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
ELK3	2004	broad.mit.edu	37	12	96641178	96641179	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:96641178_96641179CC>TA	uc001teo.1	+	2	947_948	c.668_669CC>TA	c.(667-669)tcc>tTA	p.S223L		NM_005230	NP_005221	P41970	ELK3_HUMAN	Homo sapiens ELK3, ETS-domain protein (SRF accessory protein 2) (ELK3), mRNA.	223					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	p.S223C(2)		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)					GCCAAGATCTCCTCTTTAATGT	0.619000														80			33		0	0	0.004672	0	0
DSC1	1823	broad.mit.edu	37	18	28742522	28742522	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:28742522G>A	uc002kwn.3	-	0	298	c.36C>T	c.(34-36)ttC>ttT	p.F12F	DSC1_uc002kwm.3_Silent_p.F12F	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	12					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)			GCTGCTTACAGAAGATGCTCC	0.542000														38			14		0	0	0.003163	0	0
HBD	3045	broad.mit.edu	37	11	5255304	5255304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:5255304G>A	uc001maf.1	-	1	427	c.232C>T	c.(232-234)Cac>Tac	p.H78Y		NM_000519	NP_000510	P02042	HBD_HUMAN	Homo sapiens hemoglobin, delta (HBD), mRNA.	78					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGTCCAGGTGAGCCAGGCCA	0.542000														34			28		0	0	0.004656	0	0
SNORD116-1	100033413	broad.mit.edu	37	15	25296652	25296652	+	RNA	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:25296652A>G	uc001yxg.3	+	0		c.30A>G								Homo sapiens small nucleolar RNA, C/D box 116-1 (SNORD116-1), small nucleolar RNA.																		CTATAAAAACATTCCTTGGAA	0.478000														85			34		0	0	0.005524	0	0
ASGR1	432	broad.mit.edu	37	17	7081841	7081841	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:7081841C>T	uc002ges.4	-	1	442	c.42G>A	c.(40-42)gaG>gaA	p.E14E	ASGR1_uc021toy.1_Silent_p.E14E|ASGR1_uc010clx.1_5'Flank	NM_001671	NP_001662	P07306	ASGR1_HUMAN	Homo sapiens asialoglycoprotein receptor 1 (ASGR1), transcript variant 1, mRNA.	14					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						GGTCACTCTCCTCATTGTCCA	0.587000														29			17		0	0	0.006122	0	0
DROSHA	29102	broad.mit.edu	37	5	31472318	31472318	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:31472318G>A	uc003jhg.2	-	15	2452	c.2093C>T	c.(2092-2094)tCc>tTc	p.S698F	DROSHA_uc003jhh.2_Missense_Mutation_p.S661F|DROSHA_uc003jhi.2_Missense_Mutation_p.S661F	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	698	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						CTGGTGCATGGACAGCACTTC	0.493000														50			19		0	0	0.007413	0	0
XIRP2	129446	broad.mit.edu	37	2	167760257	167760257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:167760257G>A	uc002udx.3	+	1	354	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	XIRP2_uc010fpn.3_Missense_Mutation_p.E89K|XIRP2_uc010fpo.3_Missense_Mutation_p.E89K	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.R88R(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						CAACACCAGGGAATATGGTCG	0.512000														41			21		0	0	0.010504	0	0
OR1J4	26219	broad.mit.edu	37	9	125281862	125281862	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:125281862C>T	uc011lyw.2	+	0	443	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						GTCACTGTGTCCTGGATCCTC	0.512000														74			29		0	0	0.009535	0	0
PCLO	27445	broad.mit.edu	37	7	82544827	82544827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:82544827G>A	uc003uhx.2	-	6	12764	c.12475C>T	c.(12475-12477)Cca>Tca	p.P4159S	PCLO_uc003uhv.2_Missense_Mutation_p.P4159S|PCLO_uc010lec.3_Missense_Mutation_p.P1124S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4090					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						TCAGATTTTGGAAAATGTCTG	0.388000														75			33		0	0	0.005524	0	0
SLC17A9	63910	broad.mit.edu	37	20	61595008	61595008	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:61595008C>T	uc002yea.4	+	6	982	c.798C>T	c.(796-798)ttC>ttT	p.F266F	SLC17A9_uc002ydz.4_Silent_p.F260F|SLC17A9_uc011aap.1_Silent_p.F286F	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	266					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						CCACCTTCTTCGAGGAGACCT	0.662000														8			4		0	0	0.009096	0	0
CDC20B	166979	broad.mit.edu	37	5	54423134	54423134	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:54423134G>A	uc003jpo.2	-	7	1117	c.940C>T	c.(940-942)Cat>Tat	p.H314Y	CDC20B_uc003jpn.2_Missense_Mutation_p.H314Y|CDC20B_uc010ivu.2_Missense_Mutation_p.H314Y|CDC20B_uc010ivv.2_Missense_Mutation_p.H314Y	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	314										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)			ACTGACAAATGACCAAGCATA	0.398000														70			35		0	0	0.004878	0	0
STOX1	219736	broad.mit.edu	37	10	70644268	70644268	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:70644268C>T	uc001jos.2	+	2	803	c.716C>T	c.(715-717)tCc>tTc	p.S239F	STOX1_uc001joq.3_Missense_Mutation_p.S129F|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Missense_Mutation_p.S129F	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	239						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GCCCCCATATCCCACTGTCAG	0.527000														49			23		0	0	0.003330	0	0
CCDC67	159989	broad.mit.edu	37	11	93170756	93170756	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:93170756C>T	uc001pdq.3	+	13	1786	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F		NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	562										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				CACAGCATTTCCTTCTGGAAG	0.363000														23			27		0	0	0.004656	0	0
IPO4	79711	broad.mit.edu	37	14	24651015	24651015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:24651015G>A	uc001wmv.1	-	26	3863	c.2842C>T	c.(2842-2844)Ctc>Ttc	p.L948F	IPO4_uc001wmt.1_Missense_Mutation_p.L426F|IPO4_uc001wmu.2_Missense_Mutation_p.L610F|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Missense_Mutation_p.L812F|IPO4_uc001wmy.1_Missense_Mutation_p.L812F|IPO4_uc001wmz.2_Missense_Mutation_p.L948F	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	948					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)		CGCGCCAGGAGGGGAAAAAGG	0.622000														29			11		0	0	0.008291	0	0
PRDM9	56979	broad.mit.edu	37	5	23522948	23522948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:23522948G>A	uc003jgo.3	+	7	1018	c.836G>A	c.(835-837)cGa>cAa	p.R279Q		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	279	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R279*(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						TATGAGGGCCGAATTACAGAA	0.547000										HNSCC(3;0.000094)				55			14		0	0	0.002450	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811469	5811469	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:5811469G>A	uc010ndi.3	-	6	2415	c.1951C>T	c.(1951-1953)Cct>Tct	p.P651S	NLGN4X_uc004crp.3_Missense_Mutation_p.P634S|NLGN4X_uc010ndh.3_Missense_Mutation_p.P614S|NLGN4X_uc004crq.3_Missense_Mutation_p.P614S|NLGN4X_uc004crr.3_Missense_Mutation_p.P614S|NLGN4X_uc010ndj.3_Missense_Mutation_p.P614S	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	614					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TCTGGTGGAGGAACCTTTGTG	0.502000														97			39		0	0	0.002852	0	0
DYSF	8291	broad.mit.edu	37	2	71778824	71778824	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:71778824C>T	uc010fen.3	+	18	1921	c.1780C>T	c.(1780-1782)Cct>Tct	p.P594S	DYSF_uc010fei.3_Missense_Mutation_p.P593S|DYSF_uc010feh.3_Missense_Mutation_p.P562S|DYSF_uc002sig.4_Missense_Mutation_p.P562S|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P607S|DYSF_uc010fee.3_Missense_Mutation_p.P576S|DYSF_uc010fef.3_Missense_Mutation_p.P593S|DYSF_uc002sie.3_Missense_Mutation_p.P576S|DYSF_uc010feo.3_Missense_Mutation_p.P608S|DYSF_uc010fej.3_Missense_Mutation_p.P563S|DYSF_uc010fel.3_Missense_Mutation_p.P563S|DYSF_uc010fem.3_Missense_Mutation_p.P577S|DYSF_uc002sif.3_Missense_Mutation_p.P577S|DYSF_uc010fek.3_Missense_Mutation_p.P594S	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	576						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						GGAGGACCTTCCTGCGGATGA	0.652000														32			7		0	0	0.001984	0	0
ZRANB3	84083	broad.mit.edu	37	2	135960445	135960445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:135960445G>A	uc002tum.3	-	19	3215	c.3098C>T	c.(3097-3099)tCc>tTc	p.S1033F	ZRANB3_uc002tuk.3_Missense_Mutation_p.S576F|ZRANB3_uc002tul.3_Missense_Mutation_p.S1031F	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.	1033						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTTGTCCAGGGAACACTGTCC	0.463000														11			4		0	0	0.009096	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269469	30269469	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:30269469G>A	uc022buh.1	+	0	859	c.859G>A	c.(859-861)Gag>Aag	p.E287K	MAGEB1_uc004dcc.3_Missense_Mutation_p.E287K|MAGEB1_uc004dcd.3_Missense_Mutation_p.E287K|MAGEB1_uc004dce.3_Missense_Mutation_p.E287K	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	287	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						GAAAGTCCTCGAGTTTTTGGC	0.512000														68			20		0	0	0.001882	0	0
DNAH11	8701	broad.mit.edu	37	7	21698497	21698497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:21698497G>A	uc003svc.3	+	29	5222	c.5191G>A	c.(5191-5193)Gag>Aag	p.E1731K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1731	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						AGTGGCCTACGAGGAAAAACC	0.448000									Kartagener syndrome					13			4		0	0	0.009096	0	0
SORL1	6653	broad.mit.edu	37	11	121481797	121481797	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:121481797C>T	uc001pxx.3	+	38	5381	c.5252C>T	c.(5251-5253)cCa>cTa	p.P1751L	SORL1_uc010rzp.1_Missense_Mutation_p.P597L|SORL1_uc010rzq.1_Missense_Mutation_p.P366L	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1751	Fibronectin type-III 3.				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)		ATCCCACCACCAGATATCCAC	0.418000														49			20		0	0	0.010504	0	0
LINS	55180	broad.mit.edu	37	15	101109545	101109545	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:101109545G>A	uc002bwg.3	-	6	2395	c.2172C>T	c.(2170-2172)tgC>tgT	p.C724C	LINS_uc002bwd.3_Silent_p.C311C	NM_001040616	NP_001035706	Q8NG48	LINES_HUMAN	Homo sapiens lines homolog (Drosophila) (LINS), transcript variant 6, mRNA.	724										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TTTGCAAACGGCAGATGGCAT	0.348000														68			28		0	0	0.009535	0	0
FA2H	79152	broad.mit.edu	37	16	74752907	74752907	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:74752907G>A	uc002fde.2	-	4	841	c.765C>T	c.(763-765)gtC>gtT	p.V255V	FA2H_uc002fdd.2_5'Flank|FA2H_uc010vmy.2_Non-coding_Transcript	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.	255					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						GGCCGTGCATGACGAAGTGCA	0.637000														45			16		0	0	0.004990	0	0
BRWD1	54014	broad.mit.edu	37	21	40574346	40574346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:40574346G>A	uc002yxk.2	-	37	4785	c.4490C>T	c.(4489-4491)tCt>tTt	p.S1497F	BRWD1_uc010goc.1_Missense_Mutation_p.S140F|BRWD1_uc021wjf.1_Missense_Mutation_p.S1497F|BRWD1_uc010god.1_Missense_Mutation_p.S415F	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.I1496F(1)		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)				AACACCTGAAGAGATACCAGC	0.413000														39			15		0	0	0.002450	0	0
MYH7	4625	broad.mit.edu	37	14	23886452	23886452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:23886452G>A	uc001wjx.3	-	31	4535	c.4429C>T	c.(4429-4431)Ctc>Ttc	p.L1477F		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1477					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)		TCTGTGCTGAGGGAGCGAGCC	0.577000														90			45		0	0	0.002852	0	0
LRP1B	53353	broad.mit.edu	37	2	141986902	141986902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:141986902C>T	uc002tvj.1	-	5	1672	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	234					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)		GTATGAATTTCATTTCCATTG	0.294000										TSP Lung(27;0.18)				33			10		0	0	0.008291	0	0
C18orf34	374864	broad.mit.edu	37	18	30950043	30950043	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:30950043C>T	uc010xbr.1	-	4	461	c.319G>A	c.(319-321)Gag>Aag	p.E107K	C18orf34_uc002kxn.2_Missense_Mutation_p.E107K|C18orf34_uc010dmf.1_Missense_Mutation_p.E107K|C18orf34_uc002kxo.2_Missense_Mutation_p.E107K|C18orf34_uc002kxp.3_Missense_Mutation_p.E107K	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	107										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						ATTTTGGACTCCACATCTTGG	0.383000														46			15		0	0	0.002450	0	0
WNT8B	7479	broad.mit.edu	37	10	102239763	102239763	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:102239763C>T	uc001krb.3	+	2	349	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C		NM_003393	NP_003384	Q93098	WNT8B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8B (WNT8B), mRNA.	79					Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		TGGTGGGCTTCGCAGTGGTAA	0.577000														32			13		0	0	0.002450	0	0
NEB	4703	broad.mit.edu	37	2	152432773	152432773	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:152432773G>A	uc021vrb.1	-	76	11726	c.11697C>T	c.(11695-11697)atC>atT	p.I3899I	NEB_uc002txr.3_Silent_p.I365I|NEB_uc002txu.3_Silent_p.I5600I|NEB_uc021vrc.1_Silent_p.I5600I|NEB_uc010fnx.3_Silent_p.I3887I|NEB_uc021vrd.1_Silent_p.I3899I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3899					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)		TGTCACAAAAGATATTCTGGG	0.478000														53			31		0	0	0.002836	0	0
EPHA3	2042	broad.mit.edu	37	3	89390143	89390143	+	Missense_Mutation	SNP	G	A	A	rs142109561	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:89390143G>A	uc003dqy.3	+	3	1117	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	EPHA3_uc003dqx.1_Missense_Mutation_p.E298K|EPHA3_uc021xbf.1_Missense_Mutation_p.E298K	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	298	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTCTACTCAGGAAGATGGTTC	0.463000										TSP Lung(6;0.00050)				61			31		0	0	0.002096	0	0
KLK6	5653	broad.mit.edu	37	19	51465129	51465129	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:51465129G>A	uc002puh.3	-	3	545	c.480C>T	c.(478-480)ttC>ttT	p.F160F	KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Silent_p.F151F|KLK6_uc002puj.3_Silent_p.F44F|KLK6_uc010ycn.2_Silent_p.F44F|KLK6_uc002pul.3_Silent_p.F151F|KLK6_uc002pum.3_Silent_p.F44F	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	151	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TGGTGTCAGGGAAATCACCTG	0.587000														46			22		0	0	0.003330	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156939110	156939110	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:156939110C>T	uc001fqo.3	-	8	1709	c.669G>A	c.(667-669)ttG>ttA	p.L223L	ARHGEF11_uc001fqn.3_Silent_p.L263L	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	223					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)					TCCCAGAGTCCAAGCCACTGT	0.562000														20			5		0	0	0.001168	0	0
LRFN2	57497	broad.mit.edu	37	6	40400332	40400332	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:40400332T>C	uc003oph.1	-	1	986	c.521A>G	c.(520-522)aAc>aGc	p.N174S		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	174						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)					CTGGTGGAGGTTGACCATGCG	0.587000														53			21		0	0	0.001882	0	0
CYP4X1	260293	broad.mit.edu	37	1	47504382	47504382	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:47504382G>A	uc001cqt.3	+	6	1076	c.826G>A	c.(826-828)Gat>Aat	p.D276N	CYP4X1_uc001cqr.3_Missense_Mutation_p.D275N|CYP4X1_uc001cqs.3_Missense_Mutation_p.D211N	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	276						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.D276N(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						GGTAAAGCAGGATAACACTCC	0.393000														35			17		0	0	0.006122	0	0
ZFP36L2	678	broad.mit.edu	37	2	43451460	43451460	+	Nonstop_Mutation	SNP	A	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:43451460A>T	uc002rsv.4	-	1	1774	c.1483T>A	c.(1483-1485)Tga>Aga	p.*495R	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 2 (ZFP36L2), mRNA.	0					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)				CTCTTGCCTCAGTCGTCGGAG	0.682000														11			4		0	0	0.001984	0	0
ZNF804B	219578	broad.mit.edu	37	7	88962805	88962805	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:88962805G>A	uc011khi.2	+	3	1047	c.509G>A	c.(508-510)gGa>gAa	p.G170E		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	170						intracellular	zinc ion binding	p.G170E(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)			CTCCTTAAAGGAAAAAATCTC	0.443000										HNSCC(36;0.09)				33			16		0	0	0.004007	0	0
TESPA1	9840	broad.mit.edu	37	12	55356606	55356606	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:55356606G>A	uc010spd.1	-	8	1209	c.1076C>T	c.(1075-1077)cCa>cTa	p.P359L	TESPA1_uc001sgl.3_Missense_Mutation_p.P221L|TESPA1_uc001sgm.3_Missense_Mutation_p.P106L|TESPA1_uc010spb.1_Missense_Mutation_p.P106L|TESPA1_uc010spc.1_Missense_Mutation_p.P221L|TESPA1_uc001sgn.3_Missense_Mutation_p.P359L	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	359																	GAAGACACATGGATAGGGAGA	0.522000														31			4		0	0	0.009096	0	0
PSG2	5670	broad.mit.edu	37	19	43579737	43579737	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:43579737C>T	uc002ovr.3	-	2	650	c.478G>A	c.(478-480)Gag>Aag	p.E160K	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	160	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TCCATGGCCTCCCTGGGGTTT	0.517000														159			62		0	0	0.003610	0	0
KRT19P2	160313	broad.mit.edu	37	12	95228418	95228418	+	RNA	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:95228418G>A	uc001tdk.2	+	0		c.245G>A								Homo sapiens keratin 19 pseudogene 2 (KRT19P2), non-coding RNA.																		GCATGAGGAGGAAATCAATGC	0.557000														12			7		0	0	0.003080	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69420265	69420265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:69420265G>A	uc004dxx.1	+	3	525	c.428G>A	c.(427-429)aGg>aAg	p.R143K		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	143					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						ACCTTAGAAAGGATATTTTGG	0.413000														40			10		0	0	0.000978	0	0
STEAP4	79689	broad.mit.edu	37	7	87908728	87908728	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:87908728C>T	uc022agz.1	-	5	1588	c.1365G>A	c.(1363-1365)agG>agA	p.R455R	STEAP4_uc003ujs.3_Silent_p.R455R|STEAP4_uc010lek.3_Silent_p.R279R	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	455					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)					GTTTTGAGTTCCTTTCCCAGC	0.378000														57			22		0	0	0.003954	0	0
FAM83B	222584	broad.mit.edu	37	6	54806553	54806553	+	Silent	SNP	A	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:54806553A>T	uc003pck.3	+	4	2900	c.2784A>T	c.(2782-2784)tcA>tcT	p.S928S		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	928										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)					GATCTCATTCAACTGATCGGC	0.443000														46			19		0	0	0.007413	0	0
GMEB1	10691	broad.mit.edu	37	1	29028969	29028969	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:29028969C>T	uc001bra.3	+	6	790	c.648C>T	c.(646-648)gcC>gcT	p.A216A	GMEB1_uc001bqz.3_Silent_p.A206A|GMEB1_uc001brb.3_Silent_p.A206A	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 1 (GMEB1), transcript variant 1, mRNA.	216					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)		CGCAGATTGCCATCTCAGAAG	0.463000														67			21		0	0	0.002780	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159388	118159388	+	Silent	SNP	C	T	T	rs114650878	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:118159388C>T	uc003yoh.3	+	1	497	c.267C>T	c.(265-267)gtC>gtT	p.V89V	SLC30A8_uc010mcz.3_Silent_p.V40V|SLC30A8_uc003yog.3_Silent_p.V40V|SLC30A8_uc011lia.2_Silent_p.V40V|SLC30A8_uc022bab.1_Silent_p.V40V	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	89					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)			TTGCAGAGGTCGTGGGTGAGT	0.413000														144			61		0	0	0.003610	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891712	18891712	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:18891712G>A	uc001rdy.3	+	0	668	c.510G>A	c.(508-510)tgG>tgA	p.W170*	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.	170					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)				ACGGACTTTGGAAATCTAAAT	0.388000														29			11		0	0	0.008291	0	0
RNASEL	6041	broad.mit.edu	37	1	182555381	182555381	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:182555381G>A	uc009wxz.2	-	1	818	c.561C>T	c.(559-561)ctC>ctT	p.L187L	RNASEL_uc001gpk.3_Silent_p.L187L|RNASEL_uc009wya.1_Silent_p.L187L	NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	187					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						TCTCATCAAGGAGAATCTTCA	0.517000														49			22		0	0	0.010504	0	0
CUEDC1	404093	broad.mit.edu	37	17	55962751	55962751	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:55962751G>A	uc002ivd.1	-	1	894	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	CUEDC1_uc002ive.1_Missense_Mutation_p.P59S	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	Homo sapiens CUE domain containing 1 (CUEDC1), mRNA.	59	CUE.									endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						TCCATGTTGGGGAACATGGTC	0.647000														81			25		0	0	0.004656	0	0
NDC80	10403	broad.mit.edu	37	18	2578003	2578003	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:2578003C>T	uc002kli.3	+	4	521	c.339C>T	c.(337-339)tcC>tcT	p.S113S		NM_006101	NP_006092	O14777	NDC80_HUMAN	Homo sapiens NDC80 kinetochore complex component homolog (S. cerevisiae) (NDC80), mRNA.	113	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	Ndc80 complex|condensed nuclear chromosome outer kinetochore|cytosol	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						ATAATGTGTCCATGAAATCTC	0.358000														39			16		0	0	0.004007	0	0
C7	730	broad.mit.edu	37	5	40972624	40972624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:40972624C>T	uc003jmh.3	+	14	2116	c.2002C>T	c.(2002-2004)Cct>Tct	p.P668S	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	668	Sushi 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CTTAGAAGGTCCTTCAGCATT	0.483000														98			35		0	0	0.005524	0	0
ANXA2	302	broad.mit.edu	37	15	60653147	60653147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:60653147G>A	uc002agm.3	-	4	477	c.404C>T	c.(403-405)tCc>tTc	p.S135F	ANXA2_uc002agk.3_Missense_Mutation_p.S117F|ANXA2_uc002agn.3_Missense_Mutation_p.S117F|ANXA2_uc002agl.3_Missense_Mutation_p.S117F|ANXA2_uc010uhd.2_Non-coding_Transcript|ANXA2_uc010bgj.3_Missense_Mutation_p.S117F	NM_001002858	NP_001002858	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 1, mRNA.	117					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)	TACCTTCATGGAAGCTTTTAG	0.418000														21			6		0	0	0.001168	0	0
NLRP2	55655	broad.mit.edu	37	19	55501423	55501423	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:55501423G>A	uc021vbq.1	+	8	2511	c.2400G>A	c.(2398-2400)tgG>tgA	p.W800*	NLRP2_uc010yfp.2_Nonsense_Mutation_p.W777*|NLRP2_uc002qij.3_Nonsense_Mutation_p.W800*|NLRP2_uc010esp.3_Nonsense_Mutation_p.W778*|NLRP2_uc010esn.3_Nonsense_Mutation_p.W776*|NLRP2_uc010eso.3_Nonsense_Mutation_p.W797*	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	800					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)		CTCAGCAGTGGGCTGATCTCT	0.488000														79			36		0	0	0.006230	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28476714	28476714	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:28476714C>T	uc003ceh.3	+	3	614	c.446C>T	c.(445-447)tCa>tTa	p.S149L	ZCWPW2_uc003cei.3_Missense_Mutation_p.S149L|ZCWPW2_uc010hfo.3_5'UTR	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 2 (ZCWPW2), mRNA.	149	PWWP.						zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						CATTCAAGATCATGGATAAAG	0.363000														47			17		0	0	0.006122	0	0
CHL1	10752	broad.mit.edu	37	3	382569	382569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:382569C>T	uc003bot.3	+	5	1120	c.478C>T	c.(478-480)Cca>Tca	p.P160S	CHL1_uc003bou.3_Missense_Mutation_p.P160S|CHL1_uc003bow.2_Missense_Mutation_p.P160S|CHL1_uc011asi.2_Missense_Mutation_p.P160S	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.	160	Ig-like C2-type 2.				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)		CAAAGGCCTCCCACCTTTACA	0.398000														17			4		0	0	0.009096	0	0
CLGN	1047	broad.mit.edu	37	4	141313412	141313412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:141313412C>T	uc011chi.2	-	13	1830	c.1612G>A	c.(1612-1614)Gag>Aag	p.E538K	CLGN_uc003iii.3_Missense_Mutation_p.E538K	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	538					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)					TTTTTTTCCTCTTCCAGGTCC	0.363000														143			50		0	0	0.003610	0	0
USP10	9100	broad.mit.edu	37	16	84796689	84796689	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:84796689A>G	uc010voe.2	+	9	1912	c.1661A>G	c.(1660-1662)aAt>aGt	p.N554S	USP10_uc002fii.3_Missense_Mutation_p.N550S|USP10_uc010vof.2_Missense_Mutation_p.N112S|USP10_uc002fij.3_Missense_Mutation_p.N76S	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	550					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						TCACCAAGTAATGAAAGTAGG	0.433000														80			22		0	0	0.002299	0	0
HMCN1	83872	broad.mit.edu	37	1	186089163	186089163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:186089163C>T	uc001grq.1	+	79	12344	c.12115C>T	c.(12115-12117)Cct>Tct	p.P4039S	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4039	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						TGCAGTTCTTCCTAGTGGCGG	0.453000														26			28		0	0	0.007291	0	0
EIF4EBP1	1978	broad.mit.edu	37	8	37914672	37914672	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:37914672G>A	uc003xks.3	+	1	291	c.219G>A	c.(217-219)agG>agA	p.R73R		NM_004095	NP_004086	Q13541	4EBP1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E binding protein 1 (EIF4EBP1), mRNA.	73					G1/S transition of mitotic cell cycle|TOR signaling cascade|insulin receptor signaling pathway|positive regulation of mitotic cell cycle|translation	cytosol				endometrium(1)|lung(1)|ovary(1)|urinary_tract(1)	4	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)				CACCCCCAAGGGATCTGCCCA	0.572000														55			29		0	0	0.006320	0	0
DNAH7	56171	broad.mit.edu	37	2	196825573	196825573	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:196825573G>A	uc002utj.4	-	17	2403	c.2302C>T	c.(2302-2304)Cgt>Tgt	p.R768C		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	768	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						TCATAAAGACGAAGATAAGGG	0.403000														61			33		0	0	0.002836	0	0
PYROXD2	84795	broad.mit.edu	37	10	100152729	100152729	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:100152729G>A	uc001kpc.3	-	8	983	c.897C>T	c.(895-897)acC>acT	p.T299T	PYROXD2_uc001kpb.3_Non-coding_Transcript	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	299							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CTCCATGTGTGGTGGCTGAGC	0.577000														46			29		0	0	0.009535	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013428	149013428	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:149013428C>T	uc022cgq.1	+	0	382	c.382C>T	c.(382-384)Caa>Taa	p.Q128*	MAGEA8_uc022cgo.1_Nonsense_Mutation_p.Q128*|MAGEA8_uc004fdw.2_Nonsense_Mutation_p.Q128*|MAGEA8_uc022cgp.1_Nonsense_Mutation_p.Q128*	NM_005364	NP_005355	P43361	MAGA8_HUMAN	Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA.	128	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CCGCAAATATCAAATTAAGGA	0.488000														87			31		0	0	0.009535	0	0
CARD11	84433	broad.mit.edu	37	7	2979560	2979560	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:2979560G>A	uc003smv.3	-	5	1021	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	229					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)		TTAGCTGATCGATCTGAAATA	0.498000			Mis		DLBCL									69			23		0	0	0.002780	0	0
COL6A2	1292	broad.mit.edu	37	21	47531982	47531982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:47531982C>T	uc002zia.1	+	2	287	c.205C>T	c.(205-207)Cac>Tac	p.H69Y	COL6A2_uc002zhz.1_Missense_Mutation_p.H69Y|COL6A2_uc002zhy.1_Missense_Mutation_p.H69Y	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	69	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)		CCTGCTCTTCCACATGAAGCA	0.617000														45			15		0	0	0.003163	0	0
COL4A6	1288	broad.mit.edu	37	X	107464577	107464577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:107464577C>T	uc004enw.4	-	3	278	c.175G>A	c.(175-177)Ggc>Agc	p.G59S	COL4A6_uc004env.4_Missense_Mutation_p.G58S|COL4A6_uc011msn.2_Missense_Mutation_p.G58S|COL4A6_uc010npk.3_Missense_Mutation_p.G58S	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	59	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						CCTGTTGGGCCTTGAATTCCA	0.478000									Alport syndrome with Diffuse Leiomyomatosis					79			24		0	0	0.002780	0	0
CACNA1C	775	broad.mit.edu	37	12	2693743	2693743	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:2693743A>T	uc009zdu.1	+	15	2612	c.2299A>T	c.(2299-2301)Aag>Tag	p.K767*	CACNA1C_uc001qkc.2_Nonsense_Mutation_p.K767*|CACNA1C_uc001qjz.2_Nonsense_Mutation_p.K767*|CACNA1C_uc001qkd.2_Nonsense_Mutation_p.K767*|CACNA1C_uc001qke.2_Nonsense_Mutation_p.K767*|CACNA1C_uc001qkf.2_Nonsense_Mutation_p.K767*|CACNA1C_uc009zdw.1_Nonsense_Mutation_p.K767*|CACNA1C_uc001qkg.2_Nonsense_Mutation_p.K767*|CACNA1C_uc001qkh.2_Nonsense_Mutation_p.K767*|CACNA1C_uc001qkl.2_Nonsense_Mutation_p.K767*|CACNA1C_uc001qkj.2_Nonsense_Mutation_p.K767*|CACNA1C_uc001qkk.2_Nonsense_Mutation_p.K767*|CACNA1C_uc001qkn.2_Nonsense_Mutation_p.K767*|CACNA1C_uc001qkm.2_Nonsense_Mutation_p.K767*|CACNA1C_uc001qko.2_Nonsense_Mutation_p.K767*|CACNA1C_uc001qkp.2_Nonsense_Mutation_p.K767*|CACNA1C_uc001qkq.2_Nonsense_Mutation_p.K767*|CACNA1C_uc001qku.2_Nonsense_Mutation_p.K767*|CACNA1C_uc001qkr.2_Nonsense_Mutation_p.K767*|CACNA1C_uc001qks.2_Nonsense_Mutation_p.K767*|CACNA1C_uc001qkt.2_Nonsense_Mutation_p.K767*|CACNA1C_uc009zdv.1_Nonsense_Mutation_p.K764*|CACNA1C_uc001qkb.2_Nonsense_Mutation_p.K767*|CACNA1C_uc001qka.1_Nonsense_Mutation_p.K302*|CACNA1C_uc001qki.1_Nonsense_Mutation_p.K503*	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	767					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)	ATCTGCCCaaaaggaggagga	0.512000														50			14		0	0	0.003163	0	0
ADAM19	8728	broad.mit.edu	37	5	156946990	156946990	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:156946990G>A	uc003lwz.3	-	5	536	c.457C>T	c.(457-459)Cct>Tct	p.P153S	ADAM19_uc003lww.2_5'UTR|ADAM19_uc011ddr.1_Missense_Mutation_p.P84S	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	153					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding	p.L153I(1)		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)			TTGCTGTCAGGGAGGGGCTCG	0.517000														88			48		0	0	0.003610	0	0
NOTCH4	4855	broad.mit.edu	37	6	32163515	32163515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:32163515C>T	uc003obb.3	-	29	5850	c.5711G>A	c.(5710-5712)gGa>gAa	p.G1904E	GPSM3_uc003oay.4_5'Flank|GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_3'UTR|NOTCH4_uc003oba.3_Missense_Mutation_p.G564E|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.	1904					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						TCCTCCTGCTCCTACTCCCGA	0.672000														149			80		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179641767	179641767	+	Silent	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179641767T>C	uc021vsy.1	-	27	5049	c.4824A>G	c.(4822-4824)ggA>ggG	p.G1608G	TTN_uc021vsz.1_Silent_p.G1562G|TTN_uc021vta.1_Silent_p.G1562G|TTN_uc021vtb.1_Silent_p.G1562G|TTN_uc002unb.2_Silent_p.G1608G|AK123298_uc002unc.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1608	Ig-like 7.						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)			CTCCCTTGGTTCCTTCAATTC	0.398000														35			19		0	0	0.010504	0	0
LRP1	4035	broad.mit.edu	37	12	57573329	57573329	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:57573329C>T	uc001snd.3	+	28	5422	c.4956C>T	c.(4954-4956)gtC>gtT	p.V1652V		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1652					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)	TGGAGACAGTCGTCTCTGCAG	0.627000														28			10		0	0	0.006214	0	0
MC2R	4158	broad.mit.edu	37	18	13885119	13885119	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:13885119G>A	uc002ksp.1	-	1	576	c.399C>T	c.(397-399)ttC>ttT	p.F133F	MC2R_uc021uhs.1_Silent_p.F133F	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	133					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)	GCAGTGCGTGGAAGATGGTGA	0.582000														40			13		0	0	0.001368	0	0
GPR34	2857	broad.mit.edu	37	X	41555682	41555682	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:41555682C>T	uc022bvc.1	+	0	796	c.796C>T	c.(796-798)Cgt>Tgt	p.R266C	CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR34_uc004dfp.4_Missense_Mutation_p.R266C|GPR34_uc004dfq.4_Missense_Mutation_p.R266C|GPR34_uc010nhg.3_Missense_Mutation_p.R266C|GPR34_uc004dfr.4_Missense_Mutation_p.R266C	NM_005300	NP_005291	Q9UPC5	GPR34_HUMAN	Homo sapiens G protein-coupled receptor 34 (GPR34), transcript variant 1, mRNA.	266						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						CACTACAGCTCGTAACTCCTT	0.313000														19			7		0	0	0.001984	0	0
TMEM202	338949	broad.mit.edu	37	15	72699072	72699073	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:72699072_72699073CC>TT	uc002auq.3	+	2	467_468	c.467_468CC>TT	c.(466-468)tcc>tTT	p.S156F	TMEM202_uc002aur.3_Non-coding_Transcript	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	Homo sapiens transmembrane protein 202 (TMEM202), mRNA.	156						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTGAAGGTATCCATGCTCAGCT	0.446000														120			50		0	0	0.004672	0	0
FAM86HP	729375	broad.mit.edu	37	3	129817239	129817239	+	RNA	SNP	C	G	G	rs142691368	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:129817239C>G	uc003ene.2	-	2		c.1272G>C			FAM86HP_uc011ble.1_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member H, pseudogene (FAM86HP), non-coding RNA.																		CCCCAGGGCCCCTGCTGTCCT	0.587000														21			6		0	0	0.003080	0	0
MYO3A	53904	broad.mit.edu	37	10	26414365	26414365	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:26414365G>A	uc001isn.2	+	18	2302	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	MYO3A_uc009xko.1_Missense_Mutation_p.E648K|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	648	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						TGAGCTACAAGAAGCTCTCAC	0.433000														54			11		0	0	0.000978	0	0
AKAP6	9472	broad.mit.edu	37	14	33293838	33293838	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:33293838C>T	uc001wrq.3	+	12	6989	c.6819C>T	c.(6817-6819)gcC>gcT	p.A2273A		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	2273					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)		CTGCTTCAGCCAAATCTAAAG	0.428000														50			17		0	0	0.004990	0	0
FAM70A	55026	broad.mit.edu	37	X	119419545	119419545	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:119419545T>C	uc004eso.4	-	5	657	c.430A>G	c.(430-432)Agt>Ggt	p.S144G	FAM70A_uc004esp.4_Intron|FAM70A_uc010nqo.3_Intron	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	144						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						GTTGAGGAACTTATGACCTTA	0.433000														49			25		0	0	0.004656	0	0
ERGIC1	57222	broad.mit.edu	37	5	172324007	172324009	+	Missense_Mutation	DNP	TC	CT	CT			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:172324007_172324009TC>CT	uc003mbw.4	+	2	279_281	c.85_87TC>CT	c.(85-87)tcc>CT	p.S29del	ERGIC1_uc003mby.4_5'UTR	NM_001031711	NP_001026881	Q969X5	ERGI1_HUMAN	Homo sapiens endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 (ERGIC1), mRNA.	29					ER to Golgi vesicle-mediated transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTTCCAGTCTCCATCTGCTGCT	0.522000														46			18		0	0	0.004672	0	0
CNTN4	152330	broad.mit.edu	37	3	2928874	2928874	+	Silent	SNP	G	A	A	rs141461698	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:2928874G>A	uc003bpc.3	+	9	1245	c.906G>A	c.(904-906)ggG>ggA	p.G302G	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Silent_p.G302G|CNTN4_uc003bpd.1_Silent_p.G302G	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	302	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)		ATTCCAGAGGGAAAAATGTAG	0.373000														26			8		0	0	0.003080	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702972	27702972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:27702972C>T	uc001itu.2	-	0	326	c.208G>A	c.(208-210)Gag>Aag	p.E70K		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	70					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						TCGTCCCCCTCTGGCAGGGGT	0.716000														50			23		0	0	0.002299	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42396720	42396720	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:42396720C>T	uc002orx.3	+	6	523	c.414C>T	c.(412-414)ttC>ttT	p.F138F	ARHGEF1_uc002orw.1_Silent_p.F138F|ARHGEF1_uc002ory.3_Silent_p.F105F|ARHGEF1_uc002orz.3_5'UTR|ARHGEF1_uc002osa.3_Silent_p.F153F|ARHGEF1_uc002osb.3_Silent_p.F120F|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.	138	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)		AGCGGCGGTTCGTGCAGGAGG	0.662000														32			23		0	0	0.004656	0	0
COL5A1	1289	broad.mit.edu	37	9	137622145	137622145	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:137622145G>A	uc004cfe.3	+	6	1370	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	330	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)		GGCTGGGAAGGAAGAGGACGT	0.617000														90			43		0	0	0.003610	0	0
ABCD2	225	broad.mit.edu	37	12	39998563	39998563	+	Splice_Site	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:39998563C>T	uc001rmb.2	-	4	1831	c.1405_splice	c.e4+1	p.G469_splice		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	469					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						GAGTTTAATACCTTTAATTGC	0.328000														38			19		0	0	0.001882	0	0
MBTPS2	51360	broad.mit.edu	37	X	21863441	21863441	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:21863441C>T	uc004dae.3	+	2	574	c.377C>T	c.(376-378)tCt>tTt	p.S126F	MBTPS2_uc004dab.2_Missense_Mutation_p.S126F	NM_015884	NP_056968	O43462	MBTP2_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 2 (MBTPS2), mRNA.	126	Poly-Ser.				cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						tcttcttcctcttcctcttct	0.423000														31			13		0	0	0.001368	0	0
CYP4B1	1580	broad.mit.edu	37	1	47282773	47282773	+	Missense_Mutation	SNP	G	T	T	rs144321901		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:47282773G>T	uc001cqn.4	+	8	1211	c.1127G>T	c.(1126-1128)cGc>cTc	p.R376L	CYP4B1_uc001cqm.4_Missense_Mutation_p.R375L|CYP4B1_uc009vym.3_Missense_Mutation_p.R361L|CYP4B1_uc010omk.2_Missense_Mutation_p.R212L	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	375					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)					GAGAGCTTCCGCCTCTACCCA	0.552000														76			30		3.99451e-17	4.09142e-17	0.009535	1	0
KLF5	688	broad.mit.edu	37	13	73636401	73636402	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:73636401_73636402CC>TT	uc001vje.3	+	1	988_989	c.664_665CC>TT	c.(664-666)cct>TTt	p.P222F	KLF5_uc001vjd.3_Missense_Mutation_p.P131F	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Homo sapiens Kruppel-like factor 5 (intestinal) (KLF5), mRNA.	222					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)		TCTTTCTGTCCCTACCCAGCAG	0.455000														57			28		0	0	0.004672	0	0
FAM214A	56204	broad.mit.edu	37	15	52892394	52892394	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:52892394A>C	uc010ugf.2	-	7	2734	c.2600T>G	c.(2599-2601)aTt>aGt	p.I867S	FAM214A_uc002acg.4_Missense_Mutation_p.I860S|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Missense_Mutation_p.I772S	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	860																	TTTTTCATGAATATCTGGATC	0.318000														32			14		0	0	0.003163	0	0
CXorf22	170063	broad.mit.edu	37	X	35993312	35993312	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:35993312C>A	uc004ddj.3	+	13	2369	c.2303C>A	c.(2302-2304)aCt>aAt	p.T768N	CXorf22_uc010ngv.3_Intron	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	768										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						TCTCCAAATACTCATCTACTT	0.328000														65			26		1.17739e-12	1.20071e-12	0.005443	1	0
MAGEC3	139081	broad.mit.edu	37	X	140953268	140953268	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:140953268G>A	uc011mwp.2	+	1	135	c.135G>A	c.(133-135)aaG>aaA	p.K45K		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	45										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)					CCCGGAAAAAGGCCACAGATA	0.483000														44			19		0	0	0.008871	0	0
PTPRT	11122	broad.mit.edu	37	20	40727112	40727112	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:40727112G>A	uc002xkg.3	-	26	3979	c.3795C>T	c.(3793-3795)ttC>ttT	p.F1265F	PTPRT_uc010ggj.3_Silent_p.F1284F|PTPRT_uc010ggi.3_Silent_p.F468F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1265	Tyrosine-protein phosphatase 2.				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.F1287F(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)				AGTTGTAATCGAACACCAGCC	0.592000														48			23		0	0	0.002780	0	0
PHF14	9678	broad.mit.edu	37	7	11022442	11022442	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:11022442C>T	uc003sry.2	+	2	1008	c.556C>T	c.(556-558)Cga>Tga	p.R186*	PHF14_uc011jxi.2_Intron|PHF14_uc011jxj.2_Intron	NM_014660	NP_055475	O94880	PHF14_HUMAN	Homo sapiens PHD finger protein 14 (PHF14), transcript variant 2, mRNA.	186							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		ATGGAACCTTCGACGAAACCG	0.483000														34			12		0	0	0.001855	0	0
EEF1A2	1917	broad.mit.edu	37	20	62127295	62127295	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:62127295A>G	uc002yfe.1	-	2	404	c.238T>C	c.(238-240)Ttc>Ctc	p.F80L		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	80						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GTGGTCTCGAACTTCCAGAGG	0.577000											OREG0026129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		92			45		0	0	0.009718	0	0
CUL1	8454	broad.mit.edu	37	7	148427274	148427274	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:148427274C>T	uc010lpg.3	+	1	586	c.60C>T	c.(58-60)atC>atT	p.I20I	CUL1_uc003wey.3_Silent_p.I20I|CUL1_uc003wez.3_5'UTR	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	20					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)			TGGACCAGATCTGGGACGACC	0.567000														117			30		0	0	0.002096	0	0
HRG	3273	broad.mit.edu	37	3	186395141	186395141	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:186395141C>T	uc003fqq.3	+	6	1070	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	349					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)		CCAGTGACCTccatccccata	0.483000														42			36		0	0	0.004289	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008598	142008598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142008598C>T	uc003vxf.3	+	1	120	c.71C>T	c.(70-72)tCc>tTc	p.S24F	TRBV2_uc011kro.1_Intron|TRBV3-1_uc022amz.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		ACAGCTGTTTCCCAGACTCCA	0.453000														51			13		0	0	0.001368	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147546	26147546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:26147546G>A	uc002dof.3	+	1	1740	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	450					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TTTTCAGTGGGAACAGGAAGA	0.463000														16			5		0	0	0.001168	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457951	45457951	+	RNA	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:45457951C>T	uc001rol.3	-	0		c.1244G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		TGAGGAATTTCTCTTTCAGCT	0.423000														43			11		0	0	0.000978	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751569	140751569	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:140751569C>T	uc003ljw.2	+	0	1608	c.1608C>T	c.(1606-1608)gaC>gaT	p.D536D	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_Silent_p.D536D|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	538	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)			AGGCCCGCGACCAGGGCTCGC	0.692000														35			13		0	0	0.001855	0	0
TNC	3371	broad.mit.edu	37	9	117845000	117845000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:117845000C>T	uc004bjj.4	-	4	2630	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	TNC_uc010mvf.3_Missense_Mutation_p.E740K|TNC_uc022bmj.1_Missense_Mutation_p.E740K	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	740	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						TCCCAGGTTTCAAAAGCAATG	0.433000														41			23		0	0	0.004656	0	0
MYO3B	140469	broad.mit.edu	37	2	171248994	171248994	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:171248994T>C	uc002ufy.3	+	15	1923	c.1780T>C	c.(1780-1782)Ttc>Ctc	p.F594L	MYO3B_uc002ufv.3_Missense_Mutation_p.F581L|MYO3B_uc010fqb.1_Missense_Mutation_p.F594L|MYO3B_uc002ufz.3_Missense_Mutation_p.F594L|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.	594	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						GATTATAGGGTTCACGGACAA	0.393000														14			6		0	0	0.003080	0	0
PNPLA7	375775	broad.mit.edu	37	9	140389596	140389596	+	Silent	SNP	C	T	T	rs141852500	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:140389596C>T	uc010ncj.1	-	18	2353	c.2016G>A	c.(2014-2016)gtG>gtA	p.V672V	PNPLA7_uc011mfa.1_Intron|PNPLA7_uc004cnf.2_Silent_p.V647V	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	647					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)		TCAGTGTCTCCACCTGAGGAC	0.687000														38			25		0	0	0.003330	0	0
ADCY8	114	broad.mit.edu	37	8	131955651	131955651	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:131955651C>T	uc003ytd.4	-	3	1555	c.1299G>A	c.(1297-1299)caG>caA	p.Q433Q	ADCY8_uc010mds.3_Silent_p.Q433Q	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	433					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)			TGACCAGCTCCTGAGCAGACA	0.483000										HNSCC(32;0.087)				23			10		0	0	0.000978	0	0
CCR1	1230	broad.mit.edu	37	3	46244743	46244743	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:46244743C>T	uc003cph.1	-	1	1133	c.1062G>A	c.(1060-1062)ggG>ggA	p.G354G	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Silent_p.G354G	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	354					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)		TGAGTCAGAACCCAGCAGAGA	0.592000														39			13		0	0	0.001855	0	0
OR5K1	26339	broad.mit.edu	37	3	98188564	98188564	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:98188564G>A	uc003dsm.3	+	0	144	c.144G>A	c.(142-144)ctG>ctA	p.L48L		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	48					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						TGGTGGCACTGATATTTACAC	0.463000														274			73		0	0	0.003610	0	0
KEL	3792	broad.mit.edu	37	7	142655516	142655516	+	Splice_Site	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142655516C>T	uc003wcb.3	-	5	611	c.401_splice	c.e5-1	p.E134_splice		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	134					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)					TTCTGGACCTCTAGAAAGGAA	0.488000														70			12		0	0	0.000978	0	0
NLRC5	84166	broad.mit.edu	37	16	57070087	57070087	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:57070087G>A	uc021tiu.1	+	12	2830	c.2703G>A	c.(2701-2703)agG>agA	p.R901R	NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Silent_p.R706R|NLRC5_uc021tiw.1_Silent_p.R706R|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.	901					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	p.A900T(1)		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)				ACATCGCCAGGAAGCTGGAGT	0.617000														25			13		0	0	0.002450	0	0
CAPN11	11131	broad.mit.edu	37	6	44141075	44141075	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:44141075C>T	uc003owt.1	+	6	821	c.783C>T	c.(781-783)ctC>ctT	p.L261L		NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	261	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			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)			TGCTCAGGCTCCTTAGGAAGG	0.592000														24			14		0	0	0.001855	0	0
COL5A3	50509	broad.mit.edu	37	19	10080595	10080595	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:10080595G>A	uc002mmq.1	-	54	4026	c.3940C>T	c.(3940-3942)Cct>Tct	p.P1314S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1314	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)			TGGCCTGAAGGACCCTTGGAA	0.612000														78			29		0	0	0.002836	0	0
NLRP1	22861	broad.mit.edu	37	17	5462569	5462569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:5462569C>T	uc002gci.3	-	3	2002	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	NLRP1_uc002gcg.1_Missense_Mutation_p.E483K|NLRP1_uc002gch.4_Missense_Mutation_p.E483K|NLRP1_uc002gck.3_Missense_Mutation_p.E483K|NLRP1_uc002gcj.3_Missense_Mutation_p.E483K|NLRP1_uc002gcl.3_Missense_Mutation_p.E483K|NLRP1_uc010clh.3_Missense_Mutation_p.E483K	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	483	NACHT.				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)				CTGCTGGACTCAGAGAACCCC	0.502000														51			16		0	0	0.004007	0	0
ACSM1	116285	broad.mit.edu	37	16	20696586	20696586	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:20696586C>T	uc002dhm.1	-	1	400	c.332G>A	c.(331-333)gGa>gAa	p.G111E	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.G111E	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	111					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			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CAGATGGTCTCCCTGTTGTAG	0.572000														80			29		0	0	0.008361	0	0
MYH4	4622	broad.mit.edu	37	17	10352194	10352194	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:10352194C>T	uc002gmn.3	-	30	4463	c.4352G>A	c.(4351-4353)aGa>aAa	p.R1451K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1451					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						GTCAAAGTTTCTTTGCTTCTT	0.438000														61			28		0	0	0.006320	0	0
RHPN2	85415	broad.mit.edu	37	19	33493752	33493752	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:33493752G>A	uc002nuf.3	-	7	981	c.915C>T	c.(913-915)ttC>ttT	p.F305F	RHPN2_uc010xro.2_Silent_p.F154F|RHPN2_uc002nue.3_Silent_p.F35F	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.	305	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding	p.F304L(1)		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)					TCACCAGCATGAAGAATTCAT	0.547000														53			15		0	0	0.006122	0	0
BSND	7809	broad.mit.edu	37	1	55470708	55470708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:55470708C>T	uc001cye.3	+	1	434	c.191C>T	c.(190-192)cCt>cTt	p.P64L		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.	64						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						ACCTTCGTCCCTGCTGACTCT	0.582000														38			18		0	0	0.010504	0	0
PAK2	5062	broad.mit.edu	37	3	196533475	196533475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:196533475C>T	uc003fwy.4	+	5	816	c.494C>T	c.(493-495)cCc>cTc	p.P165L		NM_002577	NP_002568	Q13177	PAK2_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 (PAK2), mRNA.	165					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)		ACAGAAGCACCCGCAGTAGTG	0.488000														47			23		0	0	0.003954	0	0
OR4K5	79317	broad.mit.edu	37	14	20388785	20388785	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:20388785C>T	uc010tkw.2	+	0	20	c.20C>T	c.(19-21)tCa>tTa	p.S7L		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	7					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)		TCCAATTCTTCAGTGGTGTCT	0.358000														42			15		0	0	0.002450	0	0
ST7L	54879	broad.mit.edu	37	1	113153619	113153619	+	Nonsense_Mutation	SNP	C	A	A	rs140260708	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:113153619C>A	uc001ecd.3	-	2	600	c.295G>T	c.(295-297)Gaa>Taa	p.E99*	ST7L_uc009wgh.3_Non-coding_Transcript|ST7L_uc001ecc.3_5'UTR|ST7L_uc010owg.2_Nonsense_Mutation_p.E99*|ST7L_uc010owh.2_Nonsense_Mutation_p.E99*|ST7L_uc001ecf.3_Nonsense_Mutation_p.E82*|ST7L_uc001ece.3_Nonsense_Mutation_p.E99*|ST7L_uc001ecg.3_Non-coding_Transcript|ST7L_uc010owi.2_Nonsense_Mutation_p.E34*|ST7L_uc001ech.3_Nonsense_Mutation_p.E82*|ST7L_uc001eci.3_Nonsense_Mutation_p.E99*|ST7L_uc009wgi.1_Non-coding_Transcript|ST7L_uc010owj.1_Nonsense_Mutation_p.E82*	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	Homo sapiens suppression of tumorigenicity 7 like (ST7L), transcript variant 1, mRNA.	99					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)		TACCACCATTCAAATATCTAT	0.383000														19			13		3.27435e-08	3.32156e-08	0.002450	1	0
BCMO1	53630	broad.mit.edu	37	16	81303877	81303877	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:81303877C>T	uc002fgn.1	+	6	1175	c.957C>T	c.(955-957)atC>atT	p.I319I	BCMO1_uc010vnp.1_Silent_p.I250I	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	319					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						ACGGCTGCATCGTGTTTGACG	0.552000														41			54		0	0	0.003610	0	0
BCL11A	53335	broad.mit.edu	37	2	60687865	60687865	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:60687865G>A	uc002sae.1	-	3	2410	c.2182C>T	c.(2182-2184)Ccg>Tcg	p.P728S	BCL11A_uc002sab.3_Missense_Mutation_p.P728S|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.P397S|BCL11A_uc010ypj.2_Missense_Mutation_p.P694S|BCL11A_uc002sad.1_Missense_Mutation_p.P576S|BCL11A_uc002saf.1_Missense_Mutation_p.P694S	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	728					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.P728L(1)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCCGGGCCCGGACCACTAATA	0.627000			T	IGH@	B-CLL									262			109		0	0	0.003610	0	0
UBC	7316	broad.mit.edu	37	17	21731248	21731248	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:21731248G>A	uc002gyy.3	+	1	675	c.550G>A	c.(550-552)Gat>Aat	p.D184N				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	336	Ubiquitin-like 3.				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)		CAAGATCCAAGATAAAGAAGG	0.527000														56			17		0	0	0.008871	0	0
MCOLN2	255231	broad.mit.edu	37	1	85424216	85424216	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:85424216T>A	uc001dkm.3	-	2	648	c.407A>T	c.(406-408)aAt>aTt	p.N136I	MCOLN2_uc001dkn.3_Non-coding_Transcript	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	136						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)		ACTTGCCTGATTAATAGCAAA	0.338000														73			28		0	0	0.002096	0	0
ASAP2	8853	broad.mit.edu	37	2	9490987	9490987	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:9490987C>T	uc002qzh.2	+	11	1414	c.1074C>T	c.(1072-1074)acC>acT	p.T358T	ASAP2_uc002qzi.2_Silent_p.T358T	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	358	PH.				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						AGGTGAAGACCAACCCTGAGG	0.512000														28			11		0	0	0.000978	0	0
FAM65C	140876	broad.mit.edu	37	20	49218800	49218800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:49218800G>A	uc010zyt.2	-	12	1719	c.1468C>T	c.(1468-1470)Cac>Tac	p.H490Y	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.H486Y|FAM65C_uc002xvn.1_Missense_Mutation_p.H486Y	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	486										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						GTGCCGCTGTGGAACAGGGAG	0.682000														22			9		0	0	0.008291	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150129122	150129122	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:150129122C>T	uc001ett.3	+	3	614	c.336C>T	c.(334-336)ttC>ttT	p.F112F	PLEKHO1_uc001ets.3_5'UTR|PLEKHO1_uc001etu.3_5'UTR|PLEKHO1_uc021oyc.1_5'Flank	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA.	112	PH.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|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)			ACCTGATCTTCCTGGCAGTGA	0.502000														82			35		0	0	0.007835	0	0
BNC1	646	broad.mit.edu	37	15	83933428	83933428	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:83933428G>A	uc002bjt.1	-	3	663	c.575C>T	c.(574-576)tCc>tTc	p.S192F	BNC1_uc010uos.1_Missense_Mutation_p.S180F	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	192					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TATGATGATGGATTGCTCTTC	0.473000														114			39		0	0	0.006999	0	0
SLC25A47	283600	broad.mit.edu	37	14	100795794	100795794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:100795794G>A	uc001yhc.3	+	5	812	c.739G>A	c.(739-741)Gca>Aca	p.A247T	SLC25A47_uc001yhd.3_Missense_Mutation_p.A101T	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	Homo sapiens solute carrier family 25, member 47 (SLC25A47), nuclear gene encoding mitochondrial protein, mRNA.	247					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						GAGACTGCAGGCAGACGGGCA	0.667000														65			25		0	0	0.005443	0	0
AKT2	208	broad.mit.edu	37	19	40762863	40762863	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:40762863G>A	uc002onf.3	-	2	444	c.145C>T	c.(145-147)Cta>Tta	p.L49L	AKT2_uc010egs.3_Silent_p.L49L|AKT2_uc010xvj.2_5'UTR|AKT2_uc010egt.3_5'UTR|AKT2_uc010egu.2_5'UTR|AKT2_uc010xvk.1_Silent_p.L49L	NM_001626	NP_001229957	P31751	AKT2_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA.	49	PH.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			AAGGGGGGTAGAGTCTGATCA	0.562000			A		"""ovarian, pancreatic """									371			119		0	0	0.003610	0	0
ENTHD1	150350	broad.mit.edu	37	22	40140033	40140033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:40140033C>T	uc003ayg.3	-	6	1726	c.1475G>A	c.(1474-1476)gGa>gAa	p.G492E		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	492										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TGGAAGAATTCCCAGTAGATT	0.408000														32			9		0	0	0.006214	0	0
MUC16	94025	broad.mit.edu	37	19	9090293	9090293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:9090293C>T	uc002mkp.3	-	0	1726	c.1522G>A	c.(1522-1524)Gca>Aca	p.A508T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	508	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						GAAGTGGTTGCCCTCAGGATG	0.557000														58			20		0	0	0.007413	0	0
PRMT5	10419	broad.mit.edu	37	14	23392336	23392336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:23392336G>A	uc001whm.1	-	12	1500	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	PRMT5_uc001whl.1_Missense_Mutation_p.S453F|PRMT5_uc010tnf.1_Missense_Mutation_p.S364F|PRMT5_uc010tnh.1_Missense_Mutation_p.S426F|PRMT5_uc010tng.1_Missense_Mutation_p.S409F|PRMT5_uc001whn.1_Missense_Mutation_p.S299F	NM_006109	NP_006100	O14744	ANM5_HUMAN	Homo sapiens protein arginine methyltransferase 5 (PRMT5), transcript variant 1, mRNA.	470					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	p.T469T(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		AGCCAGAAAGGAAGTGTACTC	0.512000														17			8		0	0	0.004482	0	0
SEMA3E	9723	broad.mit.edu	37	7	82997226	82997226	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:82997226G>A	uc003uhy.2	-	16	2625	c.2004C>T	c.(2002-2004)atC>atT	p.I668I	SEMA3E_uc022agy.1_Silent_p.I608I	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	668	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CCTCCAAGGTGATTTTACGGA	0.468000														57			31		0	0	0.009535	0	0
TBX19	9095	broad.mit.edu	37	1	168282176	168282176	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:168282176C>T	uc001gfl.3	+	7	1334	c.1283C>T	c.(1282-1284)cCc>cTc	p.P428L	TBX19_uc001gfj.4_Missense_Mutation_p.P296L|TBX19_uc001gfm.3_Missense_Mutation_p.P131L	NM_005149	NP_005140	O60806	TBX19_HUMAN	Homo sapiens T-box 19 (TBX19), mRNA.	428					anatomical structure morphogenesis	nucleus	DNA binding			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)					GCCTCGCATCCCTTCGCGGGC	0.622000														49			17		0	0	0.004990	0	0
PRC1	9055	broad.mit.edu	37	15	91517854	91517854	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:91517854C>T	uc002bqm.3	-	9	1468	c.1311G>A	c.(1309-1311)gaG>gaA	p.E437E	PRC1_uc002bqn.3_Silent_p.E437E|PRC1_uc002bqo.3_Silent_p.E437E|PRC1_uc010uqs.2_Silent_p.E396E	NM_003981	NP_003972	O43663	PRC1_HUMAN	Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.	437	Spectrin-fold.				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)					ATCGATGCATCTCCCATTGTT	0.433000														602			253		0	0	0.003610	0	0
UPRT	139596	broad.mit.edu	37	X	74520769	74520769	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:74520769C>T	uc004ecb.2	+	5	988	c.792C>T	c.(790-792)atC>atT	p.I264I	UPRT_uc004ecc.2_Non-coding_Transcript|UPRT_uc004ecd.2_Silent_p.I264I	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	Homo sapiens uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) (UPRT), transcript variant 1, mRNA.	264					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						CCAGTGTTATCATCCTACTCA	0.408000														47			22		0	0	0.003954	0	0
ZNF208	7757	broad.mit.edu	37	19	22156775	22156775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:22156775G>A	uc021urr.1	-	3	1210	c.1061C>T	c.(1060-1062)tCa>tTa	p.S354L	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.									p.S354F(4)|p.S354L(4)|p.S354S(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)				AGTAAGGATTGAGAACTTACT	0.403000														50			16		0	0	0.004990	0	0
CCR2	729230	broad.mit.edu	37	3	46399826	46399826	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:46399826G>A	uc003cpn.4	+	1	1293	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	CCR2_uc003cpm.4_Missense_Mutation_p.E270K|CCR2_uc021wxa.1_Missense_Mutation_p.E270K	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	270					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)		CACCTTCCAGGAATTCTTCGG	0.473000														124			52		0	0	0.003610	0	0
LPHN3	23284	broad.mit.edu	37	4	62363066	62363066	+	Splice_Site	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:62363066G>A	uc010ihh.3	+	1	228	c.55_splice	c.e1+1	p.A19_splice	LPHN3_uc003hcq.4_Splice_Site_p.A19_splice|LPHN3_uc010ihg.1_Splice_Site_p.G19_splice	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	19					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						AATAATTCATGGTAAGATTTT	0.378000														21			6		0	0	0.003080	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112705126	112705126	+	Silent	SNP	C	A	A	rs149868902	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:112705126C>A	uc004bei.2	+	6	849	c.657C>A	c.(655-657)acC>acA	p.T219T	PALM2-AKAP2_uc004beg.3_Silent_p.T187T|PALM2-AKAP2_uc004beh.4_Silent_p.T219T|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.	485							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						CAGGAGGCACCGTAGTAGAAA	0.468000														42			4		0.000602214	0.000606814	0.000602	1	0
MAGEA10	4109	broad.mit.edu	37	X	151303792	151303792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:151303792G>A	uc022cgz.1	-	0	301	c.301C>T	c.(301-303)Cca>Tca	p.P101S	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.P101S|MAGEA10_uc004ffm.2_Missense_Mutation_p.P101S|MAGEA10_uc004ffl.3_Missense_Mutation_p.P101S	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	101										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGATCTAATGGAAGGGAAGCA	0.542000														209			73		0	0	0.003610	0	0
PYGM	5837	broad.mit.edu	37	11	64519471	64519471	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:64519471C>T	uc001oax.4	-	13	2510	c.1693G>A	c.(1693-1695)Gac>Aac	p.D565N	PYGM_uc001oay.4_Missense_Mutation_p.D477N	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	565					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	p.D565N(2)		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)	ACCTGGATGTCGAAGAGTGAG	0.517000														46			36		0	0	0.004289	0	0
OR6F1	343169	broad.mit.edu	37	1	247875979	247875979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:247875979G>A	uc001idj.1	-	0	79	c.79C>T	c.(79-81)Ctc>Ttc	p.L27F		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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;0.0168)			AGCATAAAGAGAGAGAGCTGA	0.458000														155			42		0	0	0.002852	0	0
SALL1	6299	broad.mit.edu	37	16	51174819	51174819	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:51174819C>T	uc021tif.1	-	1	1345	c.1023G>A	c.(1021-1023)gcG>gcA	p.A341A	SALL1_uc021tid.1_Silent_p.A341A|SALL1_uc021tie.1_Silent_p.A438A|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	438					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.A438A(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)			AAGTACTTTTCGCTTCAAAGG	0.488000														88			25		0	0	0.004656	0	0
KCNQ3	3786	broad.mit.edu	37	8	133492557	133492557	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:133492557C>T	uc003ytj.3	-	0	448	c.223G>A	c.(223-225)Gac>Aac	p.D75N	KCNQ3_uc010mdt.3_Missense_Mutation_p.D75N	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	75					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)			TGCCCCTCGTCGCGGCCGCCG	0.711000														8			3		0	0	0.009096	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55360348	55360348	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:55360348C>T	uc003pcn.3	-	7	913	c.754G>A	c.(754-756)Gga>Aga	p.G252R	HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Missense_Mutation_p.G222R|HMGCLL1_uc010jzx.3_Missense_Mutation_p.G123R|HMGCLL1_uc011dxc.2_Missense_Mutation_p.G190R|HMGCLL1_uc011dxd.2_Missense_Mutation_p.G119R	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	252							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)			GTTCCCACTCCAATTGTGTCT	0.418000														28			14		0	0	0.001855	0	0
HYDIN	54768	broad.mit.edu	37	16	70889137	70889137	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:70889137C>T	uc002ezr.3	-	72	12485	c.12334G>A	c.(12334-12336)Gag>Aag	p.E4112K	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4113										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)				AACCCCTGCTCCTCCTTGTTA	0.547000														69			24		0	0	0.005443	0	0
HRG	3273	broad.mit.edu	37	3	186387769	186387769	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:186387769G>A	uc003fqq.3	+	2	366	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	115	Cystatin 1.				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)		ACATTCCCATGAATCTCAGGA	0.393000														47			35		0	0	0.004289	0	0
KIAA0913	23053	broad.mit.edu	37	10	75552441	75552441	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:75552441C>T	uc001jvj.3	+	9	2399	c.2144C>T	c.(2143-2145)aCc>aTc	p.T715I	KIAA0913_uc001jve.3_Missense_Mutation_p.T715I|KIAA0913_uc009xrl.3_Missense_Mutation_p.T715I|KIAA0913_uc001jvf.3_Missense_Mutation_p.T715I|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.T138I|KIAA0913_uc010qkr.2_Missense_Mutation_p.T138I	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	715							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					CTTCCCAAAACCAAAGAGGCA	0.602000														27			14		0	0	0.002450	0	0
UBR4	23352	broad.mit.edu	37	1	19433125	19433125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:19433125G>A	uc001bbi.3	-	82	12335	c.12331C>T	c.(12331-12333)Cgt>Tgt	p.R4111C	UBR4_uc001bbg.3_5'Flank|UBR4_uc001bbh.3_5'Flank	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4111					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)		TTCCCCCGACGACTCAGGAAC	0.557000														63			60		0	0	0.003610	0	0
PCNX	22990	broad.mit.edu	37	14	71568710	71568710	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:71568710C>T	uc001xmo.2	+	30	6039	c.5593C>T	c.(5593-5595)Cat>Tat	p.H1865Y	PCNX_uc010are.1_Missense_Mutation_p.H1754Y|PCNX_uc010arf.1_Missense_Mutation_p.H653Y|PCNX_uc001xmp.2_5'UTR	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1865						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)		TATTTAGGATCATTTTACTTC	0.323000														26			15		0	0	0.002450	0	0
MCTP2	55784	broad.mit.edu	37	15	94945245	94945245	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:94945245C>T	uc002btj.3	+	15	2147	c.2082C>T	c.(2080-2082)ttC>ttT	p.F694F	MCTP2_uc010boj.3_Silent_p.F423F|MCTP2_uc010bok.3_Silent_p.F694F|MCTP2_uc002btk.4_Silent_p.F282F|MCTP2_uc002btl.3_Silent_p.F282F	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	694					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)			CAATAGCATTCGCGGTAAGCT	0.383000														35			11		0	0	0.000978	0	0
UBC	7316	broad.mit.edu	37	17	21731256	21731256	+	Silent	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:21731256A>G	uc002gyy.3	+	1	683	c.558A>G	c.(556-558)gaA>gaG	p.E186E				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	338	Ubiquitin-like 3.				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)		AAGATAAAGAAGGCATCCCCC	0.532000														57			18		0	0	0.008871	0	0
SI	6476	broad.mit.edu	37	3	164714552	164714552	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:164714552C>T	uc003fei.3	-	38	4612	c.4549G>A	c.(4549-4551)Gaa>Aaa	p.E1517K		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1517	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)	AGACTAAATTCCATCATACCT	0.194000										HNSCC(35;0.089)				0			2		0	0	0.004672	0	0
SLC4A10	57282	broad.mit.edu	37	2	162661004	162661004	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:162661004G>A	uc002ubx.4	+	2	360	c.176G>A	c.(175-177)aGa>aAa	p.R59K	SLC4A10_uc010fpa.1_Missense_Mutation_p.R71K|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.R70K|SLC4A10_uc002uby.4_Missense_Mutation_p.R59K	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	59					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						TTGGGAGGAAGAAAAAGCCAT	0.428000														29			8		0	0	0.003080	0	0
TMEM198	130612	broad.mit.edu	37	2	220409514	220409514	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:220409514G>A	uc002vme.3	+	2	650	c.65G>A	c.(64-66)tGg>tAg	p.W22*	CHPF_uc010zlh.2_5'Flank|CHPF_uc002vmc.4_5'Flank|TMEM198_uc002vmf.3_Nonsense_Mutation_p.W22*	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	Homo sapiens transmembrane protein 198 (TMEM198), mRNA.	22						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)		GATGCCTTCTGGGGTGCACCT	0.592000														45			23		0	0	0.002299	0	0
TSIX	9383	broad.mit.edu	37	X	73048905	73048905	+	RNA	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:73048905C>T	uc004ebn.2	+	0		c.36866C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		CAACTTACTTCATTCAGCTAT	0.453000														47			9		0	0	0.008291	0	0
KIT	3815	broad.mit.edu	37	4	55593610	55593610	+	Missense_Mutation	SNP	T	C	C	rs121913517		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:55593610T>C	uc010igr.3	+	10	1763	c.1676T>C	c.(1675-1677)gTt>gCt	p.V559A	KIT_uc010igs.3_Missense_Mutation_p.V555A|KIT_uc010igt.2_Missense_Mutation_p.V8A	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	559			Missing (in GIST).|Missing (in GIST; somatic mutation).|V -> A (in GIST).|V -> D (in GIST; somatic mutation).		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.W557_K558del(407)|p.V559D(239)|p.V559A(78)|p.V559del(61)|p.W557_E561del(59)|p.V559G(54)|p.W557_V559>C(44)|p.K550_K558del(43)|p.W557_V559>F(33)|p.E554_K558del(31)|p.K558_E562del(30)|p.V559_E561del(25)|p.K558_V559del(25)|p.V559?(21)|p.W557_V559del(21)|p.K558_V560del(20)|p.Q556_V560del(19)|p.V559_V560del(18)|p.V559_G565del(18)|p.K558>NP(18)|p.K558_V560>N(16)|p.W557_V560>C(14)|p.Y553_K558del(14)|p.K558_G565>R(13)|p.K558_V559>N(12)|p.V555_V559del(11)|p.K558_D572del(10)|p.Q556_V559>H(9)|p.M552_V559>I(9)|p.W557_Q575del(9)|p.Q556_V560>H(9)|p.W557_K558>E(8)|p.Y553_K558>(8)|p.V555_P573del(8)|p.W557_V560del(8)|p.Q556_D572del(8)|p.K558N(8)|p.Q556_V559del(8)|p.E554_V559del(8)|p.V555_K558del(8)|p.V555_I571del(7)|p.K558_V560>I(7)|p.Q556_V559>HT(7)|p.E554_V560>D(7)|p.V555_V560del(7)|p.K558_I563del(6)|p.Y553_T574>S(6)|p.Q556_K558del(6)|p.V559_T574del(6)|p.W557_V560>F(5)|p.K550_V559del(5)|p.K558del(5)|p.Q556_L576del(5)|p.V559I(5)|p.M552_D572del(5)|p.W557_P573>S(4)|p.Q556_D572>H(4)|p.W557_E562del(4)|p.M552_K558del(4)|p.K558_V559>SS(4)|p.P551_V559del(4)|p.V555_E562del(4)|p.Q556_T574del(4)|p.K558_N564del(4)|p.P551_K558del(3)|p.M552_E561>K(3)|p.W557_K558>CP(3)|p.W557_K558>S(3)|p.E554_I571del(3)|p.E554_D572>A(3)|p.K558E(3)|p.K558K(3)|p.K558R(3)|p.V555_D572del(3)|p.K558_V559>I(3)|p.K550_K558>Q(3)|p.Q556_K558>R(3)|p.Q556_P573del(3)|p.K558_G565del(3)|p.V559_E562del(3)|p.W557_I571del(3)|p.K558_E561del(3)|p.K558_Y570>N(3)|p.P551_V559>I(2)|p.Y553_E561>LK(2)|p.Y553_D572del(2)|p.W557_T574del(2)|p.L548_K558>Q(2)|p.K558_Q575del(2)|p.V555_Y570del(2)|p.M552_T574>TESA(2)|p.Q556_D572>PS(2)|p.V559_D572del(2)|p.W557_K558>CT(2)|p.E554_K558>G(2)|p.V559_P573>A(2)|p.V559_L576del(2)|p.M552_K558>T(2)|p.E554_E562del(2)|p.W557_K558>F(2)|p.Q556_N566>SNNLQLY(2)|p.W557_K558>Q(2)|p.V555_V560>V(2)|p.V559F(2)|p.V559K(2)|p.P551_V569del(2)|p.K558_L576>NV(2)|p.E554_N567del(2)|p.Q556_V560>TTF(2)|p.K558Q(2)|p.V559_I571del(2)|p.P551_V559del>L(2)|p.E554_D572del(2)|p.Y553_V559del(2)|p.V555_G565del(2)|p.W557_D572del(2)|p.V555_N566>D(2)|p.V559_N564del(2)|p.Q556_V560>HNLQLY(2)|p.Y553_E561del(2)|p.Q556_K558>HT(2)|p.Q556_N564>R(2)|p.K558_V560>M(2)|p.W557_N564del(2)|p.V555_Q575del(2)|p.V555_I563del(2)|p.Y547_K558>Q(2)|p.Q556_V560>F(2)|p.Q556_E561del(2)|p.Q556_E561>HH(2)|p.E554_N564del(2)|p.V559_N566>D(2)|p.Y553_V559>E(2)|p.K558>NQ(2)|p.Q556_E561>P(2)|p.Q556_N564>H(2)|p.Q556_L576>H(1)|p.K558_V559>TG(1)|p.Q556_K558>HPCR(1)|p.E554_Y568>D(1)|p.Q556_I563del(1)|p.W557_I563>FP(1)|p.K558_N564>R(1)|p.K558_E561>NP(1)|p.K550_Y568del(1)|p.Q556_K558>PT(1)|p.M552_K558>NE(1)|p.V555_V559>G(1)|p.E554_N564>D(1)|p.E554_I571>A(1)|p.P551_E561>Q(1)|p.K558_V559insS(1)|p.K550_V560>L(1)|p.M552_V559>IT(1)|p.W557_T575>CP(1)|p.E554_Y570del(1)|p.E554_E561del(1)|p.W557_K558>C(1)|p.Y553_P573del(1)|p.Q556_V559>PF(1)|p.K558_V560>NH(1)|p.E554_L576>DNCSHLSPQQP(1)|p.V555_V560>T(1)|p.W557_E561>PS(1)|p.K558*(1)|p.K558_G565>A(1)|p.Y553_K558>SE(1)|p.W557_K558>FP(1)|p.K558_G565>N(1)|p.W557_K558>FQ(1)|p.W557_K558>SS(1)|p.Y553_N564>L(1)|p.Q556_V559>HF(1)|p.K558_V560>R(1)|p.W557_I563>T(1)|p.K558_V560>Q(1)|p.K558_T574>NRS(1)|p.W557_P573del(1)|p.V555_V560>H(1)|p.K558_L576>N(1)|p.P551_V569>L(1)|p.K558_P573del(1)|p.Q556_N564del(1)|p.E554_V560>K(1)|p.V559_S590del(1)|p.(550_592)ins7(1)|p.K550_K558>G(1)|p.W557_V559>I(1)|p.K558_L576del(1)|p.Y553_L576>NCLHLYSSQ(1)|p.Q556_K558>N(1)|p.Q556_K558>T(1)|p.K558_V559>S(1)|p.W557_N564>C(1)|p.W557_K558>CQ(1)|p.M552_Y570del(1)|p.K558_V559>QP(1)|p.E554_N566del(1)|p.Y553_K558>L(1)|p.M552_V560del(1)|p.W557_Y570del(1)|p.M552_I563del(1)|p.W557_K558>Y(1)|p.Q556_K558>H(1)|p.V555_N564del(1)|p.W557_V559>PF(1)|p.K558_P573>R(1)|p.W557_V559>E(1)|p.K558_D572>N(1)|p.V559_P573del(1)|p.Q556_Q575del(1)|p.V559_V569del(1)|p.Q556_E561>PS(1)|p.Y553_V559>L(1)		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)	CAGTGGAAGGTTGTTGAGGAG	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					45			18		0	0	0.006122	0	0
UNC13C	440279	broad.mit.edu	37	15	54306661	54306661	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:54306661G>A	uc021smr.1	+	0	1561	c.1561G>A	c.(1561-1563)Gaa>Aaa	p.E521K	UNC13C_uc021sms.1_Missense_Mutation_p.E521K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	521					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)		AGATATCTTGGAAAAGCAAAC	0.373000														37			17		0	0	0.006122	0	0
ZBBX	79740	broad.mit.edu	37	3	166960300	166960300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:166960300C>T	uc011bpc.2	-	20	2723	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K	ZBBX_uc003feq.3_Missense_Mutation_p.E728K|ZBBX_uc003fep.3_Missense_Mutation_p.E757K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	757						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						TACCTCAATTCCTCAACTCCA	0.353000														39			37		0	0	0.006999	0	0
abParts	0	broad.mit.edu	37	14	106691775	106691775	+	RNA	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:106691775C>T	uc021ser.1	-	1156		c.25218G>A								Parts of antibodies, mostly variable regions.																		ATCGGCCCTTCACTGAGTCTG	0.517000														198			68		0	0	0.003610	0	0
CPA3	1359	broad.mit.edu	37	3	148596485	148596485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:148596485C>T	uc003ewm.3	+	4	476	c.424C>T	c.(424-426)Cgt>Tgt	p.R142C		NM_001870	NP_001861	P15088	CBPA3_HUMAN	Homo sapiens carboxypeptidase A3 (mast cell) (CPA3), mRNA.	142					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	p.R142C(2)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AATGGTCTCTCGTATTAAAAT	0.294000														73			46		0	0	0.003610	0	0
XPOT	11260	broad.mit.edu	37	12	64825499	64825499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:64825499C>T	uc001ssb.3	+	17	2664	c.2158C>T	c.(2158-2160)Ctt>Ttt	p.L720F		NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	720	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)		GGAAGAAGTTCTTCCGTTCAT	0.418000														39			7		0	0	0.001984	0	0
LCT	3938	broad.mit.edu	37	2	136566146	136566146	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:136566146C>T	uc002tuu.1	-	7	3782	c.3771G>A	c.(3769-3771)ctG>ctA	p.L1257L		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1257	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)		TGATCCAGTTCAGCAGCCTTC	0.552000														94			38		0	0	0.003755	0	0
TRPV4	59341	broad.mit.edu	37	12	110252501	110252501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:110252501G>A	uc001tpj.2	-	0	196	c.101C>T	c.(100-102)tCc>tTc	p.S34F	TRPV4_uc001tpg.2_Intron|TRPV4_uc021rdp.1_Missense_Mutation_p.S34F|TRPV4_uc001tph.2_Missense_Mutation_p.S34F|TRPV4_uc001tpi.2_Missense_Mutation_p.S34F|TRPV4_uc001tpk.2_Missense_Mutation_p.S34F	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	34					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	p.L33F(1)		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						GGCCAGGGAGGAGAGAGGAAA	0.682000														9			6		0	0	0.001168	0	0
DNAH7	56171	broad.mit.edu	37	2	196728872	196728872	+	Splice_Site	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:196728872C>T	uc002utj.4	-	41	7607	c.7506_splice	c.e41+1	p.Q2502_splice		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2502	AAA 4 (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						CATGACAATACCTGAAACCAG	0.388000														20			13		0	0	0.001368	0	0
TMEM104	54868	broad.mit.edu	37	17	72832415	72832415	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:72832415C>T	uc002jls.4	+	9	1242	c.1080C>T	c.(1078-1080)ttC>ttT	p.F360F	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.3_Silent_p.F360F	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	Homo sapiens transmembrane protein 104 (TMEM104), mRNA.	360						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TGGGCCTCTTCCCCGTCTTCA	0.627000														147			66		0	0	0.003610	0	0
EPHA7	2045	broad.mit.edu	37	6	94067992	94067992	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:94067992G>A	uc003poe.3	-	3	1211	c.970C>T	c.(970-972)Cca>Tca	p.P324S	EPHA7_uc003pof.3_Missense_Mutation_p.P324S|EPHA7_uc011eac.2_Missense_Mutation_p.P324S	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	324	Cys-rich.					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)		GCAACGTATGGTGGGTCAGAT	0.418000														37			22		0	0	0.003330	0	0
ZNF404	342908	broad.mit.edu	37	19	44377351	44377351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:44377351C>T	uc002oxs.4	-	1	1006	c.1006G>A	c.(1006-1008)Ggc>Agc	p.G336S		NM_001033719	NP_001028891	Q494X3	ZN404_HUMAN	Homo sapiens zinc finger protein 404 (ZNF404), mRNA.	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				AGGCTTGAGCCCTTACCAAAA	0.398000														48			20		0	0	0.008871	0	0
COL27A1	85301	broad.mit.edu	37	9	117063375	117063375	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:117063375C>T	uc011lxl.2	+	51	4725	c.4725C>T	c.(4723-4725)ccC>ccT	p.P1575P	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1575	Collagen-like 16.|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						TCGTCGGGCCCCTCGGAATCC	0.612000														44			12		0	0	0.000978	0	0
FAM75E1	286234	broad.mit.edu	37	9	90503550	90503550	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:90503550C>T	uc004app.4	+	3	4183	c.4148C>T	c.(4147-4149)cCc>cTc	p.P1383L		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	1383						integral to membrane											AAAGCCACCCCCAAGGGCCAC	0.627000														37			20		0	0	0.008871	0	0
ITSN1	6453	broad.mit.edu	37	21	35237482	35237482	+	Silent	SNP	C	G	G	rs141656361		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:35237482C>G	uc002yta.1	+	31	4186	c.3918C>G	c.(3916-3918)tcC>tcG	p.S1306S	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Silent_p.S1301S|ITSN1_uc002ytj.2_Silent_p.S1301S|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.	1306	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						AGAAGATGTCCGGGGAGAAGA	0.592000														17			12		0	0	0.001368	0	0
KIF26B	55083	broad.mit.edu	37	1	245850315	245850316	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:245850315_245850316TC>AT	uc001ibf.1	+	11	4470_4471	c.4030_4031TC>AT	c.(4030-4032)tct>ATt	p.S1344I	KIF26B_uc001ibg.1_Missense_Mutation_p.S962I|KIF26B_uc001ibh.1_Missense_Mutation_p.S586I	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1344					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)			GCTCATCCTGTCTGAGATGGGA	0.554000														14			42		0	0	0.004672	0	0
PLCB1	23236	broad.mit.edu	37	20	8713986	8713986	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:8713986C>T	uc002wnb.3	+	18	1993	c.1990C>T	c.(1990-1992)Cca>Tca	p.P664S	PLCB1_uc010zrb.1_Missense_Mutation_p.P563S|PLCB1_uc002wna.3_Missense_Mutation_p.P664S|PLCB1_uc002wnc.1_Missense_Mutation_p.P563S|PLCB1_uc002wnd.1_Missense_Mutation_p.P241S	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	664	C2.				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						GCATTTTGATCCATTTACTGA	0.413000														41			13		0	0	0.003163	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826249	43826249	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:43826249C>T	uc010skx.2	-	20	2954	c.2954G>A	c.(2953-2955)gGg>gAg	p.G985E	ADAMTS20_uc001rno.1_Missense_Mutation_p.G139E|ADAMTS20_uc001rnp.1_Missense_Mutation_p.G139E	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	985	TSP type-1 4.					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)		AGACCTTTCCCCTCCTCCACA	0.363000														54			14		0	0	0.003163	0	0
CCBE1	147372	broad.mit.edu	37	18	57136752	57136752	+	Missense_Mutation	SNP	C	T	T	rs115982879	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:57136752C>T	uc002lib.3	-	3	423	c.353G>A	c.(352-354)cGa>cAa	p.R118Q		NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	118					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)				CCGGTCATATCGGTATCCCGG	0.512000														99			54		0	0	0.003610	0	0
NPFFR2	10886	broad.mit.edu	37	4	72994359	72994359	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:72994359G>A	uc003hgg.2	+	1	455	c.357G>A	c.(355-357)tgG>tgA	p.W119*	NPFFR2_uc010iig.2_Intron|NPFFR2_uc003hgi.2_Nonsense_Mutation_p.W20*|NPFFR2_uc003hgh.2_Nonsense_Mutation_p.W17*	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	119					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)			ATCCCATCTGGAATGTCAATG	0.358000														20			10		0	0	0.008291	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315735	30315736	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:30315735_30315736GG>AA	uc009xle.2	-	2	3478_3479	c.3341_3342CC>TT	c.(3340-3342)ccc>cTT	p.P1114L	KIAA1462_uc001iux.3_Missense_Mutation_p.P1114L|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.P976L	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1114										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						CACTTGCATCGGGCTCAGCAGG	0.634000														57			19		0	0	0.004672	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174302	150174302	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:150174302C>T	uc003whj.3	+	4	1762	c.1432C>T	c.(1432-1434)Cag>Tag	p.Q478*		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	478						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)		CAAGACCAGCCAGAGTGGCAG	0.612000														59			15		0	0	0.001882	0	0
IREB2	3658	broad.mit.edu	37	15	78780998	78780998	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:78780998C>T	uc002bdr.2	+	15	2123	c.1961C>T	c.(1960-1962)cCc>cTc	p.P654L	IREB2_uc010unb.1_Missense_Mutation_p.P404L	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	654							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)		GGTACTGACCCCACCGGCAAG	0.343000														27			14		0	0	0.007413	0	0
COL14A1	7373	broad.mit.edu	37	8	121381648	121381648	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:121381648G>A	uc003yox.3	+	46	5500	c.5235G>A	c.(5233-5235)ggG>ggA	p.G1745G	COL14A1_uc003yoz.3_Silent_p.G710G	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1745	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GTCATCTGGGGGTTCCTGGAC	0.592000														53			27		0	0	0.005443	0	0
BCAP31	10134	broad.mit.edu	37	X	152981133	152981133	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:152981133C>T	uc004fid.2	-	3	836	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	BCAP31_uc011myz.1_Missense_Mutation_p.E69K|BCAP31_uc011mza.1_Missense_Mutation_p.E69K|BCAP31_uc004fie.2_Missense_Mutation_p.E69K	NM_001139457	NP_005736	P51572	BAP31_HUMAN	Homo sapiens B-cell receptor-associated protein 31 (BCAP31), transcript variant 1, mRNA.	69					cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	ER-Golgi intermediate compartment membrane|cytosol|endoplasmic reticulum membrane|integral to plasma membrane	receptor binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCCGAATTTCGCGCACGGCA	0.552000														132			62		0	0	0.003610	0	0
NCOR2	9612	broad.mit.edu	37	12	124824657	124824657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:124824657G>A	uc021rga.1	-	36	5720	c.5603C>T	c.(5602-5604)tCc>tTc	p.S1868F	NCOR2_uc021rgb.1_Missense_Mutation_p.S1852F|NCOR2_uc010tbb.2_Missense_Mutation_p.S1861F|NCOR2_uc010tbc.2_Missense_Mutation_p.S1851F|NCOR2_uc021rgc.1_Missense_Mutation_p.S1851F|NCOR2_uc010tba.2_Missense_Mutation_p.S1869F|NCOR2_uc010tax.2_5'UTR	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1872					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)		GGTCCGAGGGGAGATGGGCGA	0.677000														43			22		0	0	0.003954	0	0
RNASEL	6041	broad.mit.edu	37	1	182555226	182555227	+	Missense_Mutation	DNP	CC	TG	TG			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:182555226_182555227CC>TG	uc009wxz.2	-	1	972_973	c.715_716GG>CA	c.(715-717)ggg>CAg	p.G239Q	RNASEL_uc001gpk.3_Missense_Mutation_p.G239Q|RNASEL_uc009wya.1_Missense_Mutation_p.G239Q	NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	239	2-5A binding (P-loop) 1.				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						GGGAGTCTTCCCTCTTTCTCCC	0.515000														42			25		0	0	0.004672	0	0
LAD1	3898	broad.mit.edu	37	1	201356024	201356024	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:201356024G>A	uc001gwm.3	-	2	700	c.465C>T	c.(463-465)gcC>gcT	p.A155A	LAD1_uc009wzu.1_Silent_p.A177A	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	155			A -> P (in dbSNP:rs1128316).			basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CCTCCTCCAGGGCCCAGGGGC	0.592000														168			33		0	0	0.006999	0	0
LYG2	254773	broad.mit.edu	37	2	99861749	99861749	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:99861749C>T	uc002szw.1	-	3	470	c.357G>A	c.(355-357)agG>agA	p.R119R	MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Silent_p.R119R|LYG2_uc002szx.1_Silent_p.R119R	NM_175735	NP_783862	Q86SG7	LYG2_HUMAN	Homo sapiens lysozyme G-like 2 (LYG2), mRNA.	119					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						ATTTAAGTCCCCTGTGGTCCC	0.517000														48			11		0	0	0.001368	0	0
PDCD4	27250	broad.mit.edu	37	10	112641009	112641009	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:112641009A>G	uc001kzh.3	+	2	348	c.62A>G	c.(61-63)gAc>gGc	p.D21G	PDCD4_uc001kzg.3_Missense_Mutation_p.D10G|PDCD4_uc010qre.2_Intron	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	Homo sapiens programmed cell death 4 (neoplastic transformation inhibitor) (PDCD4), transcript variant 1, mRNA.	21					apoptosis|cell aging|negative regulation of JUN kinase activity|negative regulation of cell cycle|negative regulation of transcription, DNA-dependent	cytosol|nucleus	RNA binding|protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		AACTTAAGTGACTCTCTCTTT	0.313000														74			27		0	0	0.005443	0	0
LPHN2	23266	broad.mit.edu	37	1	82431800	82431800	+	Silent	SNP	G	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:82431800G>T	uc001dit.4	+	10	2206	c.2025G>T	c.(2023-2025)ctG>ctT	p.L675L	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Silent_p.L675L|LPHN2_uc001div.3_Silent_p.L675L|LPHN2_uc009wcd.3_Silent_p.L675L|LPHN2_uc001diw.3_Silent_p.L259L	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	688					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.P674S(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)		AATTTCCTCTGGGCATCAAAG	0.438000														54			18		1.56452e-12	1.59474e-12	0.007413	1	0
ZNF556	80032	broad.mit.edu	37	19	2878084	2878084	+	Silent	SNP	G	A	A	rs45599940	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:2878084G>A	uc002lwp.1	+	3	1215	c.1128G>A	c.(1126-1128)ggG>ggA	p.G376G	ZNF556_uc002lwq.3_Silent_p.G375G	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	376					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)		AAACGTGTGGGAAAACGTATG	0.502000														36			11		0	0	0.008291	0	0
PCSK5	5125	broad.mit.edu	37	9	78789959	78789959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:78789959C>T	uc004akc.2	+	13	2352	c.1814C>T	c.(1813-1815)cCa>cTa	p.P605L	PCSK5_uc004ajy.2_Missense_Mutation_p.P605L|PCSK5_uc004ajz.3_Missense_Mutation_p.P605L|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.	605					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						CCATATTCACCAACCAATGAA	0.463000														54			16		0	0	0.004007	0	0
CPAMD8	27151	broad.mit.edu	37	19	17038878	17038878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:17038878G>A	uc002nfb.3	-	24	3484	c.3452C>T	c.(3451-3453)aCc>aTc	p.T1151I		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1104						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						GACCCCCAGGGTGAAGGCCTC	0.637000														48			39		0	0	0.004878	0	0
CLCA1	1179	broad.mit.edu	37	1	86965350	86965350	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:86965350C>T	uc001dlt.3	+	13	2627	c.2367C>T	c.(2365-2367)atC>atT	p.I789I		NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	789					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)		ACAAGTATATCATTCGAATAA	0.308000														32			15		0	0	0.002450	0	0
abParts	0	broad.mit.edu	37	2	90260185	90260185	+	RNA	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:90260185C>T	uc010yts.2	+	40		c.5453C>T								Parts of antibodies, mostly variable regions.																		TCACTCTCACCATCAGTTGCC	0.488000														130			54		0	0	0.003610	0	0
CACNA1F	778	broad.mit.edu	37	X	49072916	49072916	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:49072916A>C	uc004dnb.3	-	26	3257	c.3195T>G	c.(3193-3195)agT>agG	p.S1065R	CACNA1F_uc010nip.3_Missense_Mutation_p.S1054R	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1065	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)	AGTTGAAATCACTGTTGACCC	0.567000														26			12		0	0	0.001368	0	0
PDE8B	8622	broad.mit.edu	37	5	76708041	76708041	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:76708041G>A	uc003kfa.3	+	15	1738	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K	PDE8B_uc003kfd.3_Missense_Mutation_p.E518K|PDE8B_uc003kfe.3_Missense_Mutation_p.E468K|PDE8B_uc003kfb.3_Missense_Mutation_p.E545K|PDE8B_uc003kfc.3_Missense_Mutation_p.E510K	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	565					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)		CTTTGAATTGGAAGCCATTAC	0.433000														239			125		0	0	0.003610	0	0
CD163	9332	broad.mit.edu	37	12	7639223	7639223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:7639223C>T	uc001qsz.3	-	9	2458	c.2330G>A	c.(2329-2331)gGa>gAa	p.G777E	CD163_uc001qta.3_Missense_Mutation_p.G777E|CD163_uc009zfw.2_Missense_Mutation_p.G810E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	777	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						GGGCCCTGTTCCTTCCCCAAA	0.542000														142			70		0	0	0.003610	0	0
ZNF519	162655	broad.mit.edu	37	18	14106164	14106164	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:14106164C>T	uc002kst.2	-	2	588	c.375G>A	c.(373-375)caG>caA	p.Q125Q	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.	125					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						GAGGCTTCTTCTGAAATATTC	0.299000														34			13		0	0	0.001855	0	0
LAMA3	3909	broad.mit.edu	37	18	21364004	21364004	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:21364004G>A	uc002kuq.3	+	11	1572	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	LAMA3_uc010dlv.2_Missense_Mutation_p.E496K|LAMA3_uc002kur.3_Missense_Mutation_p.E496K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	496	Domain V.|Laminin EGF-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)	CTGTAATCTGGAAGGTGTTCT	0.517000														117			39		0	0	0.006999	0	0
FAM83G	644815	broad.mit.edu	37	17	18874806	18874806	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:18874806G>A	uc002guw.3	-	5	2505	c.2338C>T	c.(2338-2340)Ccg>Tcg	p.P780S	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.	780								p.P780P(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						AAGGGACTCGGATGCTCCTCG	0.622000														126			48		0	0	0.003610	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12939587	12939587	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:12939587G>A	uc001aun.2	-	3	1286	c.1215C>T	c.(1213-1215)atC>atT	p.I405I		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	405										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		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)		TTTTGAGTATGATTGTGTGGC	0.532000														259			9		0	0	0.001855	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298602	125298602	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:125298602A>G	uc004euk.2	-	0	1479	c.1306T>C	c.(1306-1308)Tac>Cac	p.Y436H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	436										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						GGCCAGTTGTAGCAGTGGGTG	0.587000														121			37		0	0	0.006230	0	0
FEZF1	389549	broad.mit.edu	37	7	121944265	121944265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:121944265G>A	uc003vkd.3	-	0	301	c.227C>T	c.(226-228)cCc>cTc	p.P76L	FEZF1_uc003vkc.3_Missense_Mutation_p.P76L|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.	76					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						AGGCACGAAGGGGATCATGCA	0.687000														53			13		0	0	0.001368	0	0
CALCRL	10203	broad.mit.edu	37	2	188223828	188223828	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:188223828G>A	uc010frt.3	-	10	1254	c.871C>T	c.(871-873)Ctc>Ttc	p.L291F	CALCRL_uc002upv.4_Missense_Mutation_p.L291F	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	291						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ATAATGTAGAGGAGATGGGTA	0.313000														71			43		0	0	0.002852	0	0
BACH1	571	broad.mit.edu	37	21	30698572	30698572	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:30698572A>C	uc002ynk.3	+	2	670	c.427A>C	c.(427-429)Aaa>Caa	p.K143Q	BACH1_uc002ynj.3_Missense_Mutation_p.K143Q|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.	143						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						ATGCCCAAGAAAAAAATGCTT	0.373000														29			15		0	0	0.003163	0	0
BCOR	54880	broad.mit.edu	37	X	39933510	39933510	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:39933510C>T	uc004den.4	-	3	1381	c.1089G>A	c.(1087-1089)agG>agA	p.R363R	BCOR_uc004dep.4_Silent_p.R363R|BCOR_uc004deo.4_Silent_p.R363R|BCOR_uc004dem.4_Silent_p.R363R|BCOR_uc004deq.4_Silent_p.R363R	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	363					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			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						AGGTGGAGATCCTGGCATAGT	0.607000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							33			13		0	0	0.002450	0	0
MUSK	4593	broad.mit.edu	37	9	113459612	113459613	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:113459612_113459613CC>TT	uc022blv.1	+	4	628_629	c.494_495CC>TT	c.(493-495)tcc>tTT	p.S165F	MUSK_uc022blt.1_Missense_Mutation_p.S165F|MUSK_uc004bez.2_Missense_Mutation_p.S165F|MUSK_uc022blu.1_Missense_Mutation_p.S165F	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	165	Ig-like 2.				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						CAGGAAAATTCCCGAATTGCAG	0.401000														155			48		0	0	0.004672	0	0
OR5V1	81696	broad.mit.edu	37	6	29323635	29323635	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:29323635A>G	uc011dlo.2	-	0	420	c.338T>C	c.(337-339)cTc>cCc	p.L113P		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGCCAGTAGGAGACACTCTGA	0.403000														45			20		0	0	0.007413	0	0
DMRTC2	63946	broad.mit.edu	37	19	42354496	42354496	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:42354496G>A	uc010xwe.2	+	6	955	c.872G>A	c.(871-873)gGa>gAa	p.G291E	DMRTC2_uc002orr.1_Missense_Mutation_p.G168E|DMRTC2_uc002ors.3_Intron	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	275	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.Q291H(1)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CCTGGGGAAGGAAAAAGCAGG	0.602000														65			32		0	0	0.008361	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173782587	173782587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:173782587G>A	uc002uhv.4	+	4	689	c.502G>A	c.(502-504)Ggc>Agc	p.G168S	RAPGEF4_uc002uhu.2_Missense_Mutation_p.G168S|RAPGEF4_uc002uhw.4_Missense_Mutation_p.G24S|RAPGEF4_uc010zec.1_Missense_Mutation_p.G15S|RAPGEF4_uc010zed.1_Missense_Mutation_p.G15S|RAPGEF4_uc010zee.1_Missense_Mutation_p.G15S|RAPGEF4_uc010fqo.2_Missense_Mutation_p.G15S	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	168					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)			TATGGAAACGGGCTCTAACAA	0.363000														62			25		0	0	0.008361	0	0
SERPINA11	256394	broad.mit.edu	37	14	94909132	94909132	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:94909132C>T	uc001ydd.1	-	4	1140	c.1080G>A	c.(1078-1080)gcG>gcA	p.A360A		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	360					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TGTCCACCATCGCCTTGTGTG	0.562000														27			7		0	0	0.003080	0	0
CEACAM7	1087	broad.mit.edu	37	19	42187889	42187889	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:42187889A>G	uc002ori.1	-	2	535	c.533T>C	c.(532-534)cTg>cCg	p.L178P	CEACAM7_uc010ehx.2_Missense_Mutation_p.L178P|CEACAM7_uc010ehy.1_Intron	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	178	Ig-like C2-type.					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)		TACCCACCACAGGTAGGTTGT	0.507000														93			40		0	0	0.006999	0	0
USP29	57663	broad.mit.edu	37	19	57640381	57640381	+	Missense_Mutation	SNP	C	T	T	rs147501741	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:57640381C>T	uc002qny.3	+	3	694	c.338C>T	c.(337-339)tCt>tTt	p.S113F	USP29_uc021vci.1_Missense_Mutation_p.S113F	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	113					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		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;0.026)		CCCATGAAATCTGATGATGAT	0.353000														24			8		0	0	0.003080	0	0
DCDC5	100506627	broad.mit.edu	37	11	30902748	30902748	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:30902748C>A	uc009yjk.1	-	24	3594	c.3525G>T	c.(3523-3525)atG>atT	p.M1175I	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.M834I|DCDC5_uc009yjj.2_Non-coding_Transcript	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	77					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						CACAGATGACCATATCTCGCT	0.448000														21			7		5.18039e-06	5.23244e-06	0.003080	1	0
PRB3	5544	broad.mit.edu	37	12	11420803	11420803	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:11420803C>T	uc001qzs.3	-	2	418	c.380G>A	c.(379-381)gGa>gAa	p.G127E	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	127	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			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTGGTTTCCTCCTTGTGGGGG	0.647000														103			48		0	0	0.003610	0	0
THSD7B	80731	broad.mit.edu	37	2	138208496	138208496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:138208496C>T	uc002tva.1	+	13	2948	c.2948C>T	c.(2947-2949)tCa>tTa	p.S983L	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)		TCTTGCAGTTCATCTTGTGGA	0.403000														24			7		0	0	0.003080	0	0
SLC5A1	6523	broad.mit.edu	37	22	32439338	32439338	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:32439338C>T	uc003amc.3	+	0	320	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C		NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	24					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						CGAGCTCATTCGCAATGCAGC	0.612000														26			13		0	0	0.001368	0	0
FARP1	10160	broad.mit.edu	37	13	99047564	99047565	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:99047564_99047565GG>AA	uc001vnh.3	+	12	1487_1488	c.1248_1249GG>AA	c.(1246-1251)aaggtt>aaAAtt	p.V417I	FARP1_uc001vnj.3_Missense_Mutation_p.V417I	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	417					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)			AGGAACCGAAGGTTTCCGCCGG	0.688000														33			21		0	0	0.004672	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20072457	20072457	+	Silent	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:20072457T>C	uc003wzp.3	+	9	1270	c.1056T>C	c.(1054-1056)ccT>ccC	p.P352P		NM_001693	NP_001684	P21281	VATB2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 (ATP6V1B2), mRNA.	352					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)		CTCAAATCCCTATTCTAACCA	0.413000														49			26		0	0	0.005443	0	0
RGPD2	729857	broad.mit.edu	37	2	88125213	88125213	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:88125213G>A	uc010fhc.2	-	0	74	c.36C>T	c.(34-36)ctC>ctT	p.L12L	RGPD2_uc021vkn.1_Intron	NM_001078170	NP_001071638	Q68DN6	RGPD1_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 2 (RGPD2), mRNA.	0					intracellular transport		binding			breast(1)|pancreas(1)	2						GCACCGAGGCGAGGTACCGCT	0.701000														7			5		0	0	0.001984	0	0
ERCC6	2074	broad.mit.edu	37	10	50740990	50740990	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:50740990G>A	uc001jhs.4	-	1	175	c.21C>T	c.(19-21)ccC>ccT	p.P7P	ERCC6_uc009xoe.3_Silent_p.P7P|ERCC6_uc001jhu.3_Silent_p.P7P	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	7					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						GACTTGAGTGGGGGATTCCCT	0.373000								Direct reversal of damage;Nucleotide excision repair (NER)						32			20		0	0	0.001882	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136898	40136898	+	Nonsense_Mutation	SNP	C	T	T	rs151083424		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:40136898C>T	uc021qgf.1	-	0	945	c.945G>A	c.(943-945)tgG>tgA	p.W315*	LRRC4C_uc001mxc.1_Nonsense_Mutation_p.W311*|LRRC4C_uc001mxd.1_Nonsense_Mutation_p.W311*|LRRC4C_uc001mxa.1_Nonsense_Mutation_p.W315*|LRRC4C_uc001mxb.1_Nonsense_Mutation_p.W311*	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	315	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding	p.W315*(2)		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)				TGTCTTTTATCCACCAGCTGA	0.493000														14			20		0	0	0.008871	0	0
COL28A1	340267	broad.mit.edu	37	7	7571467	7571467	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:7571467C>T	uc003src.1	-	2	310	c.193G>A	c.(193-195)Gat>Aat	p.D65N	COL28A1_uc011jxe.1_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	65	VWFA 1.				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)		TTCTGTTTATCAAAGAGGGCA	0.388000														40			15		0	0	0.004007	0	0
RAB7L1	8934	broad.mit.edu	37	1	205739572	205739572	+	Silent	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:205739572A>G	uc001hdf.4	-	5	850	c.510T>C	c.(508-510)atT>atC	p.I170I	RAB7L1_uc009xbp.3_Silent_p.I98I|RAB7L1_uc001hde.4_Silent_p.I170I|RAB7L1_uc010prr.2_Silent_p.I146I|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.	170					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)			TCATCTTTTCAATGAGGACTC	0.408000														12			9		0	0	0.008291	0	0
OR10G2	26534	broad.mit.edu	37	14	22102994	22102994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:22102994C>T	uc010tmc.2	-	0	5	c.5G>A	c.(4-6)gGa>gAa	p.G2E		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	2					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)		TTTGGTCTTTCCCATGTCTTT	0.438000														74			24		0	0	0.003954	0	0
FEM1A	55527	broad.mit.edu	37	19	4793243	4793243	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:4793243C>T	uc002mbf.3	+	0	1516	c.1377C>T	c.(1375-1377)atC>atT	p.I459I	AK126532_uc002mbg.1_Non-coding_Transcript	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	Homo sapiens fem-1 homolog a (C. elegans) (FEM1A), mRNA.	459					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)		GCACCCAGATCGGCTTTGCAG	0.647000														158			84		0	0	0.003610	0	0
C3	718	broad.mit.edu	37	19	6684423	6684423	+	Missense_Mutation	SNP	G	T	T	rs139100972		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:6684423G>T	uc002mfm.3	-	32	4210	c.4148C>A	c.(4147-4149)aCt>aAt	p.T1383N		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1383					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)		AAGGATCATAGTGTTCTTGGC	0.453000														101			36		1.57019e-19	1.60907e-19	0.007835	1	0
CLK1	1195	broad.mit.edu	37	2	201718044	201718044	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:201718044C>T	uc002uwe.2	-	12	1621	c.1440G>A	c.(1438-1440)ctG>ctA	p.L480L	CLK1_uc010zhi.1_Silent_p.L522L|CLK1_uc002uwf.2_Silent_p.L254L|CLK1_uc002uwg.2_Silent_p.L329L	NM_004071	NP_004062	P49759	CLK1_HUMAN	Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 1, mRNA.	480					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						TACTTTTCTTCAGAAGGTCAA	0.348000														32			10		0	0	0.006214	0	0
ABCA8	10351	broad.mit.edu	37	17	66871838	66871838	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:66871838C>T	uc002jhq.3	-	35	4747	c.4407G>A	c.(4405-4407)agG>agA	p.R1469R	ABCA8_uc002jhp.3_Silent_p.R1429R|ABCA8_uc010wqq.2_Silent_p.R1464R	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1429	ABC transporter 2.					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)					GGAGGGCACCCCTTTCCGTGT	0.502000														32			14		0	0	0.004007	0	0
NCOA3	8202	broad.mit.edu	37	20	46264370	46264370	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:46264370C>T	uc002xtk.3	+	10	1678	c.1417C>T	c.(1417-1419)Ctt>Ttt	p.L473F	NCOA3_uc002xtl.3_Missense_Mutation_p.L473F|NCOA3_uc002xtn.3_Missense_Mutation_p.L473F|NCOA3_uc010ght.2_Missense_Mutation_p.L483F|NCOA3_uc002xtm.3_Missense_Mutation_p.L473F|NCOA3_uc010zyc.2_Missense_Mutation_p.L268F	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	473					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						GAGTCCTGGTCTTGCCCCAAA	0.493000														47			20		0	0	0.008871	0	0
CXXC11	285093	broad.mit.edu	37	2	242814397	242814397	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:242814397C>T	uc010fzu.1	+	1	713	c.690C>T	c.(688-690)ctC>ctT	p.L230L		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	230						integral to membrane											GGGCCTCTCTCCCTGTGACTG	0.662000														32			10		0	0	0.008291	0	0
LAMA3	3909	broad.mit.edu	37	18	21330960	21330960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:21330960G>A	uc002kuq.3	+	4	849	c.763G>A	c.(763-765)Gca>Aca	p.A255T	LAMA3_uc010dlv.2_Missense_Mutation_p.A255T|LAMA3_uc002kur.3_Missense_Mutation_p.A255T	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	255	Laminin N-terminal.				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)	GTTTACCAAGGCAACAAACAT	0.473000														54			32		0	0	0.002096	0	0
OR2H2	7932	broad.mit.edu	37	6	29556057	29556057	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:29556057C>T	uc003nmr.1	+	0	375	c.336C>T	c.(334-336)ctC>ctT	p.L112L	GABBR1_uc003nmp.4_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA.	112					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						AGTGCATCCTCTTGACAGTGA	0.577000														114			34		0	0	0.004289	0	0
MUC17	140453	broad.mit.edu	37	7	100685898	100685898	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:100685898C>T	uc003uxp.1	+	2	11254	c.11201C>T	c.(11200-11202)tCt>tTt	p.S3734F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3734	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S3733*(1)		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)					GCCATTTCATCTTCTGCAACT	0.507000														153			70		0	0	0.003610	0	0
DCHS2	54798	broad.mit.edu	37	4	155157007	155157007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:155157007C>T	uc003inw.2	-	24	7432	c.7432G>A	c.(7432-7434)Gga>Aga	p.G2478R		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2478	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G2478R(2)|p.G2478G(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)		TAAATATTTCCATTGGTTTTA	0.383000														46			15		0	0	0.002450	0	0
FGA	2243	broad.mit.edu	37	4	155507595	155507595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:155507595C>T	uc003iod.1	-	4	1044	c.986G>A	c.(985-987)gGa>gAa	p.G329E	FGA_uc003ioe.1_Missense_Mutation_p.G329E|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	329					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)	TCCAGTACTTCCAGGTCCAGA	0.562000														95			61		0	0	0.003610	0	0
POTEF	728378	broad.mit.edu	37	2	130832596	130832596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:130832596C>T	uc010fmh.2	-	16	2849	c.2449G>A	c.(2449-2451)Gag>Aag	p.E817K		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	817	Actin-like.					cell cortex	ATP binding	p.R816H(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GTCATCTTCTCGCGGTTGGCC	0.597000														130			49		0	0	0.003610	0	0
VIPR2	7434	broad.mit.edu	37	7	158896545	158896545	+	Splice_Site	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:158896545C>T	uc003woh.3	-	4	446	c.260_splice	c.e4-1	p.G87_splice	VIPR2_uc010lqx.3_Splice_Site|VIPR2_uc010lqy.3_Splice_Site	NM_003382	NP_003373	P41587	VIPR2_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA.	87					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)		GCTTATGTTTCCTGGAAAGTG	0.478000														57			18		0	0	0.004990	0	0
LRP1B	53353	broad.mit.edu	37	2	141208193	141208193	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:141208193C>T	uc002tvj.1	-	62	10973	c.10001G>A	c.(10000-10002)tGg>tAg	p.W3334*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3334	LDL-receptor class A 21.				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)		GTCACATTTCCACCAGAATGG	0.338000										TSP Lung(27;0.18)				46			14		0	0	0.004007	0	0
MYOM2	9172	broad.mit.edu	37	8	2077143	2077143	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:2077143C>T	uc003wpx.4	+	31	3861	c.3723C>T	c.(3721-3723)ctC>ctT	p.L1241L	MYOM2_uc011kwi.2_Silent_p.L666L	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1241					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGAAGGTACTCTGCACCCCAG	0.453000														29			10		0	0	0.008291	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722338	58722338	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:58722338C>T	uc001nnh.2	+	4	425	c.375C>T	c.(373-375)atC>atT	p.I125I	GLYATL1_uc001nnf.3_Silent_p.I94I|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Silent_p.I94I|GLYATL1_uc001nnj.2_Silent_p.I94I	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	94						mitochondrion	glycine N-acyltransferase activity	p.I125I(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	ATTGTGAGATCGTAAACTGGA	0.393000														8			9		0	0	0.004482	0	0
PRSS1	5644	broad.mit.edu	37	7	142459658	142459658	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142459658C>T	uc003wak.2	+	2	251	c.234C>T	c.(232-234)atC>atT	p.I78I	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.I18I	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	78	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			AGCACAACATCGAAGTCCTGG	0.547000														253			5		0	0	0.001984	0	0
DSG3	1830	broad.mit.edu	37	18	29055931	29055931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:29055931G>A	uc002kws.3	+	15	2817	c.2708G>A	c.(2707-2709)gGa>gAa	p.G903E	DSG3_uc002kwt.3_Missense_Mutation_p.G185E	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	903					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.S902L(1)		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)			ACTTTGTCAGGAAGTCAAGGA	0.502000														61			23		0	0	0.002299	0	0
ABCB5	340273	broad.mit.edu	37	7	20785030	20785030	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:20785030A>T	uc010kuh.3	+	25	3635	c.3398A>T	c.(3397-3399)aAt>aTt	p.N1133I	ABCB5_uc003suw.4_Missense_Mutation_p.N688I	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	688					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						AATGCAGCAAATATCCATTCT	0.438000														26			14		0	0	0.003163	0	0
IL7R	3575	broad.mit.edu	37	5	35873737	35873737	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:35873737C>T	uc003jjs.3	+	4	782	c.693C>T	c.(691-693)atC>atT	p.I231I	IL7R_uc011coo.2_Silent_p.I231I|IL7R_uc011cop.2_Intron	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	231					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)			CTCCAGAGATCAATAATAGCT	0.408000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							33			7		0	0	0.006214	0	0
SLC4A5	57835	broad.mit.edu	37	2	74462281	74462281	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:74462281C>T	uc002sko.1	-	16	2382	c.2380G>A	c.(2380-2382)Gat>Aat	p.D794N	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.D794N|SLC4A5_uc010ffc.1_Missense_Mutation_p.D794N|SLC4A5_uc002skp.1_Intron|SLC4A5_uc002sks.1_Intron	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	794						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						AAACAGGCATCGATTCCACAG	0.522000														30			11		0	0	0.001368	0	0
LMNA	4000	broad.mit.edu	37	1	156105716	156105716	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:156105716C>T	uc001fni.2	+	5	1210	c.961C>T	c.(961-963)Cga>Tga	p.R321*	LMNA_uc001fnf.1_Nonsense_Mutation_p.R321*|LMNA_uc001fng.2_Nonsense_Mutation_p.R321*|LMNA_uc001fnh.2_Nonsense_Mutation_p.R321*|LMNA_uc009wro.1_Nonsense_Mutation_p.R321*|LMNA_uc010pgz.1_Nonsense_Mutation_p.R209*|LMNA_uc001fnj.2_Nonsense_Mutation_p.R240*|LMNA_uc001fnk.2_Nonsense_Mutation_p.R222*|LMNA_uc009wrp.3_Silent_p.F48F|LMNA_uc010pha.1_5'UTR	NM_170707	NP_733821	P02545	LMNA_HUMAN	Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA.	321	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GGCGAAGCTTCGAGACCTGGA	0.657000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome					307			65		0	0	0.003610	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	G	G	rs138671696	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:62968690A>G	uc002jez.3	-	3		c.641T>C			AMZ2P1_uc002jfa.3_Non-coding_Transcript|AMZ2P1_uc002jfb.3_Non-coding_Transcript|AMZ2P1_uc010del.2_Non-coding_Transcript					Homo sapiens archaelysin family metallopeptidase 2 pseudogene 1 (AMZ2P1), non-coding RNA.																		AAAATTCCACAAGTCTCTTGG	0.373000														108			5		0	0	0.000602	0	0
ELOVL3	83401	broad.mit.edu	37	10	103988208	103988208	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:103988208G>A	uc001kut.3	+	2	431	c.268G>A	c.(268-270)Ggg>Agg	p.G90R		NM_152310	NP_689523	Q9HB03	ELOV3_HUMAN	Homo sapiens ELOVL fatty acid elongase 3 (ELOVL3), mRNA.	90					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)		GGGCATTATGGGGACTGTGCT	0.507000														34			16		0	0	0.004990	0	0
APOB	338	broad.mit.edu	37	2	21245703	21245703	+	Splice_Site	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:21245703C>T	uc002red.3	-	18	2944	c.2816_splice	c.e18+1	p.G939_splice		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	939	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)	AAAGAATTACCCTCCACTGAG	0.468000														169			74		0	0	0.003610	0	0
CALHM1	255022	broad.mit.edu	37	10	105215174	105215174	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:105215174G>A	uc001kxe.2	-	1	1026	c.886C>T	c.(886-888)Caa>Taa	p.Q296*	CALHM2_uc001kxd.1_5'Flank	NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	Homo sapiens calcium homeostasis modulator 1 (CALHM1), mRNA.	296						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						ATGGTGCCTTGATCCGTGATG	0.672000														21			6		0	0	0.001168	0	0
TMCC2	9911	broad.mit.edu	37	1	205238736	205238736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:205238736C>T	uc021pia.1	+	2	2061	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F	TMCC2_uc010prf.2_Missense_Mutation_p.S391F|TMCC2_uc001hca.3_Missense_Mutation_p.S244F|TMCC2_uc001hcb.2_Missense_Mutation_p.S229F|TMCC2_uc001hcc.2_Missense_Mutation_p.S90F|TMCC2_uc001hcd.3_Missense_Mutation_p.S236F	NM_014858	NP_001229854	O75069	TMCC2_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2), transcript variant 1, mRNA.	469						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)			ACACTCGTCTCCAGCCCCAAG	0.682000														94			24		0	0	0.003330	0	0
GUCY2F	2986	broad.mit.edu	37	X	108696842	108696842	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:108696842C>T	uc022cch.1	-	2	1364	c.1279G>A	c.(1279-1281)Gaa>Aaa	p.E427K	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.E427K	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	427					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						AGCTCCATTTCCATGTCCACA	0.478000														57			31		0	0	0.002096	0	0
TTN	7273	broad.mit.edu	37	2	179640850	179640850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179640850G>A	uc021vsy.1	-	27	5966	c.5741C>T	c.(5740-5742)gCg>gTg	p.A1914V	TTN_uc021vsz.1_Missense_Mutation_p.A1868V|TTN_uc021vta.1_Missense_Mutation_p.A1868V|TTN_uc021vtb.1_Missense_Mutation_p.A1868V|TTN_uc002unb.2_Missense_Mutation_p.A1914V|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1914	Ig-like 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A1868V(4)|p.A1914V(4)		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)			AGGATTTTCCGCGGTGACCTT	0.458000														116			75		0	0	0.003610	0	0
CLEC4C	170482	broad.mit.edu	37	12	7883451	7883451	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:7883451G>A	uc001qtg.1	-	4	613	c.439C>T	c.(439-441)Cca>Tca	p.P147S	CLEC4C_uc001qth.1_Missense_Mutation_p.P147S|CLEC4C_uc001qti.1_Missense_Mutation_p.P116S	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.	147	C-type lectin.				innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		CGACCCCCTGGATCTGACAGC	0.443000														67			22		0	0	0.003954	0	0
PNPLA5	150379	broad.mit.edu	37	22	44280191	44280191	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:44280191C>T	uc003beg.3	-	6	1117	c.984G>A	c.(982-984)cgG>cgA	p.R328R	PNPLA5_uc003beh.3_Silent_p.R214R|PNPLA5_uc021wqw.1_Silent_p.R328R|PNPLA5_uc021wqx.1_Silent_p.R214R|PNPLA5_uc011aqc.2_Silent_p.R188R	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	Homo sapiens patatin-like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA.	328					lipid catabolic process		hydrolase activity	p.R328W(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AGCGGGCCCACCGGCTGGGAT	0.627000											OREG0026622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		76			21		0	0	0.010504	0	0
C3orf23	285343	broad.mit.edu	37	3	44449140	44449140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:44449140C>T	uc003cnd.4	+	10	1884	c.1457C>T	c.(1456-1458)cCt>cTt	p.P486L	C3orf23_uc010him.3_Missense_Mutation_p.P486L|C3orf23_uc003cne.4_Missense_Mutation_p.P342L	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	Homo sapiens chromosome 3 open reading frame 23 (C3orf23), transcript variant 1, mRNA.	486						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)		CTTTGTATTCCTTGGAATTGG	0.328000														41			20		0	0	0.001882	0	0
DSC3	1825	broad.mit.edu	37	18	28604315	28604315	+	Splice_Site	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:28604315C>T	uc002kwj.4	-	6	930	c.775_splice	c.e6+1	p.G259_splice	DSC3_uc002kwi.4_Splice_Site_p.G259_splice	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	259	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)			GCAGACTTACCAGGTCTACTA	0.368000														24			4		0	0	0.009096	0	0
BAAT	570	broad.mit.edu	37	9	104125007	104125007	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:104125007G>A	uc010mtd.3	-	3	1069	c.960C>T	c.(958-960)ttC>ttT	p.F320F	BAAT_uc004bbd.4_Silent_p.F320F	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	320					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)	CAATGAAGAGGAATTGCCCCT	0.473000														74			38		0	0	0.006230	0	0
SNCAIP	9627	broad.mit.edu	37	5	121739548	121739548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:121739548G>A	uc003ksw.1	+	2	324	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.3_Missense_Mutation_p.E40K|SNCAIP_uc003ksy.1_Silent_p.T24T|SNCAIP_uc003ksx.1_Missense_Mutation_p.E87K|SNCAIP_uc003ksz.1_Silent_p.T24T|SNCAIP_uc010jcu.2_Silent_p.T24T|SNCAIP_uc011cwm.1_Silent_p.T24T|SNCAIP_uc003kta.1_Silent_p.T22T|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.T24T|SNCAIP_uc010jcx.1_Missense_Mutation_p.E40K	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	40					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)		TACGCAAAACGAAGACAGATC	0.478000														61			25		0	0	0.003954	0	0
PRSS1	5644	broad.mit.edu	37	7	142459673	142459673	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142459673G>A	uc003wak.2	+	2	266	c.249G>A	c.(247-249)ggG>ggA	p.G83G	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.G23G	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	83	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			TCCTGGAGGGGAATGAGCAGT	0.547000														233			45		0	0	0.003214	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815460	23815461	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:23815460_23815461TC>AT	uc003gqs.3	-	7	1765_1766	c.1645_1646GA>AT	c.(1645-1647)gat>ATt	p.D549I	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.	549					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)				TGACACAGAATCTCTACATGGA	0.446000														37			19		0	0	0.004672	0	0
SPDYE5	442590	broad.mit.edu	37	7	75124567	75124567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:75124567G>A	uc011kfy.2	+	0	269	c.133G>A	c.(133-135)Gag>Aag	p.E45K		NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	Homo sapiens speedy homolog E5 (Xenopus laevis) (SPDYE5), mRNA.	45																	GCCGGAGAAGGAGCTCGCCCC	0.592000														20			17		0	0	0.006122	0	0
FGFR4	2264	broad.mit.edu	37	5	176524653	176524653	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:176524653C>T	uc003mfl.3	+	17	2552	c.2385C>T	c.(2383-2385)ccC>ccT	p.P795P	FGFR4_uc003mfm.3_Silent_p.P795P|FGFR4_uc011dfu.2_Silent_p.P727P|FGFR4_uc003mfo.3_Silent_p.P755P	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	795					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)	GCTCCTTCCCCTTCGGGTCTG	0.637000										TSP Lung(9;0.080)				39			50		0	0	0.003610	0	0
DNAH7	56171	broad.mit.edu	37	2	196728875	196728875	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:196728875G>A	uc002utj.4	-	40	7605	c.7504C>T	c.(7504-7506)Cag>Tag	p.Q2502*		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2502	AAA 4 (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						GACAATACCTGAAACCAGTCA	0.393000														24			12		0	0	0.000978	0	0
DUOX2	50506	broad.mit.edu	37	15	45398008	45398008	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:45398008C>T	uc001zun.3	-	17	2370	c.2167G>A	c.(2167-2169)Gaa>Aaa	p.E723K	DUOX2_uc010bea.3_Missense_Mutation_p.E723K	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	723					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CGTTCCTCTTCAGAACTAAAC	0.592000														58			18		0	0	0.004990	0	0
AAED1	195827	broad.mit.edu	37	9	99408285	99408285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:99408285G>A	uc004awm.3	-	4	479	c.443C>T	c.(442-444)tCa>tTa	p.S148L		NM_153698	NP_714542	Q7RTV5	CI021_HUMAN	Homo sapiens chromosome 9 open reading frame 21 (C9orf21), mRNA.	148							antioxidant activity|oxidoreductase activity										GAGTAGATTTGATTTTATGTG	0.408000														53			16		0	0	0.004990	0	0
XKR5	389610	broad.mit.edu	37	8	6673346	6673346	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:6673346G>A	uc022aqv.1	-	6	1052	c.901C>T	c.(901-903)Ctg>Ttg	p.L301L	XKR5_uc003wqq.3_Missense_Mutation_p.P138L	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA.	301						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)		AATCCAGACAGGACCCCAGCT	0.507000											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			7		0	0	0.001984	0	0
MGAM	8972	broad.mit.edu	37	7	141708362	141708362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:141708362C>T	uc003vwy.3	+	2	238	c.184C>T	c.(184-186)Cct>Tct	p.P62S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	62	Ser/Thr-rich.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TACCCCAGATCCTGGAACAAC	0.478000														31			10		0	0	0.006214	0	0
ZNF791	163049	broad.mit.edu	37	19	12738595	12738595	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:12738595C>T	uc002mua.2	+	3	414	c.252C>T	c.(250-252)ttC>ttT	p.F84F	ZNF791_uc010xml.1_Silent_p.F52F|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.	84	KRAB.				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						CAGAAAACTTCAGTCCCAATC	0.428000														95			54		0	0	0.003610	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984415	41984415	+	Silent	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:41984415A>G	uc003gwk.2	+	0	703	c.606A>G	c.(604-606)gcA>gcG	p.A202A		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 1 (DCAF4L1), mRNA.	202										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GCTTTAGTGCAGGCTTGTCTC	0.567000														96			52		0	0	0.003610	0	0
RPP30	10556	broad.mit.edu	37	10	92634652	92634652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:92634652C>T	uc001khd.2	+	1	379	c.109C>T	c.(109-111)Cat>Tat	p.H37Y	RPP30_uc010qnj.2_Missense_Mutation_p.H37Y|RPP30_uc009xtx.3_Missense_Mutation_p.H37Y	NM_001104546	NP_001098016	P78346	RPP30_HUMAN	Homo sapiens ribonuclease P/MRP 30kDa subunit (RPP30), transcript variant 1, mRNA.	37					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						TGCTATCAATCATATCGTTGA	0.289000														30			14		0	0	0.008871	0	0
ANKRD29	147463	broad.mit.edu	37	18	21218861	21218861	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:21218861G>A	uc002kun.3	-	3	437	c.282C>T	c.(280-282)gtC>gtT	p.V94V	ANKRD29_uc002kuo.3_Silent_p.V94V	NM_173505	NP_775776	Q8N6D5	ANR29_HUMAN	Homo sapiens ankyrin repeat domain 29 (ANKRD29), mRNA.	94										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAAATCTCACGACATCATTAT	0.413000														45			21		0	0	0.002299	0	0
APLP1	333	broad.mit.edu	37	19	36362174	36362175	+	Missense_Mutation	DNP	GA	TC	TC			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:36362174_36362175GA>TC	uc002oce.3	+	3	598_599	c.460_461GA>TC	c.(460-462)gaa>TCa	p.E154S	APLP1_uc010xsz.2_Missense_Mutation_p.E115S|APLP1_uc002ocf.3_Missense_Mutation_p.E154S|APLP1_uc002ocg.3_Missense_Mutation_p.E57S|APLP1_uc010xta.2_Missense_Mutation_p.E148S	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	154					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	p.E154D(1)		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)			GCTGGTGCCTGAAGGCTGCCGG	0.609000														16			4		0	0	0.004672	0	0
DHRS3	9249	broad.mit.edu	37	1	12639420	12639420	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:12639420C>T	uc001auc.3	-	2	827	c.360G>A	c.(358-360)ctG>ctA	p.L120L	DHRS3_uc001aub.3_Silent_p.L35L|DHRS3_uc009vnm.3_Silent_p.L120L	NM_004753	NP_004744	O75911	DHRS3_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA.	120					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)	CATTGTTCACCAGGATGGTGA	0.557000														23			15		0	0	0.004007	0	0
CPNE4	131034	broad.mit.edu	37	3	131624125	131624125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:131624125G>A	uc011blq.2	-	1	327	c.217C>T	c.(217-219)Cat>Tat	p.H73Y	CPNE4_uc003eok.3_Missense_Mutation_p.H55Y|CPNE4_uc003eol.3_Missense_Mutation_p.H73Y|CPNE4_uc003eom.3_Missense_Mutation_p.H55Y	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	55	C2 1.									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						CACTGCCCATGAGACTGCATC	0.473000														99			33		0	0	0.004878	0	0
OR4C16	219428	broad.mit.edu	37	11	55339783	55339783	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:55339783C>T	uc010rih.2	+	0	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGTTCTTCTTCCTTTTCTACT	0.398000														44			39		0	0	0.005524	0	0
DSN1	79980	broad.mit.edu	37	20	35396435	35396435	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:35396435C>T	uc010gfr.3	-	3	739	c.366G>A	c.(364-366)cgG>cgA	p.R122R	DSN1_uc002xfz.3_Silent_p.R122R|DSN1_uc002xfy.4_5'UTR|DSN1_uc010zvs.2_Silent_p.R15R|DSN1_uc002xga.3_Silent_p.R122R|DSN1_uc002xgc.3_Silent_p.R106R|DSN1_uc002xgb.3_Silent_p.R106R	NM_001145316	NP_001138790	Q9H410	DSN1_HUMAN	Homo sapiens DSN1, MIND kinetochore complex component, homolog (S. cerevisiae) (DSN1), transcript variant 1, mRNA.	122					cell division|chromosome segregation|mitotic prometaphase	MIS12/MIND type complex|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				CACTGATAGACCGGCTGAGCT	0.393000														43			26		0	0	0.006320	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209933640	209933640	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:209933640G>A	uc001hho.3	+	2	676	c.256G>A	c.(256-258)Gag>Aag	p.E86K	TRAF3IP3_uc001hhm.2_Missense_Mutation_p.E86K|TRAF3IP3_uc001hhn.3_Missense_Mutation_p.E86K|TRAF3IP3_uc009xcr.3_Missense_Mutation_p.E86K	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	86						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)		CCAGGCCAGGGAGCAAGGGCC	0.602000														20			14		0	0	0.002450	0	0
PTPRK	5796	broad.mit.edu	37	6	128304414	128304414	+	Silent	SNP	A	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:128304414A>T	uc003qbk.3	-	22	3724	c.3357T>A	c.(3355-3357)tcT>tcA	p.S1119S	PTPRK_uc010kfc.3_Silent_p.S1126S|PTPRK_uc003qbj.3_Silent_p.S1120S|PTPRK_uc011ebu.2_Silent_p.S1142S	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1119	Tyrosine-protein phosphatase 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)		TAATACGCCGAGATCTTAAGG	0.373000														5			5		0	0	0.000602	0	0
ACADSB	36	broad.mit.edu	37	10	124802592	124802592	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:124802592G>A	uc001lhb.3	+	5	829	c.712G>A	c.(712-714)Gat>Aat	p.D238N	ACADSB_uc010qub.2_Missense_Mutation_p.D136N	NM_001609	NP_001600	P45954	ACDSB_HUMAN	Homo sapiens acyl-CoA dehydrogenase, short/branched chain (ACADSB), nuclear gene encoding mitochondrial protein, mRNA.	238					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)	CTTCTTAGTAGATCGTGATAC	0.403000														35			59		0	0	0.003610	0	0
NLRP13	126204	broad.mit.edu	37	19	56421954	56421954	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:56421954G>A	uc010ygg.2	-	5	2282	c.2257C>T	c.(2257-2259)Cca>Tca	p.P753S		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	753							ATP binding	p.N752K(2)		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)		TTGCATCTTGGATTTTTCAGT	0.458000														61			21		0	0	0.002780	0	0
PTPRG	5793	broad.mit.edu	37	3	62259508	62259508	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:62259508A>T	uc003dlb.3	+	22	4173	c.3454A>T	c.(3454-3456)Aag>Tag	p.K1152*	PTPRG_uc003dlc.3_Nonsense_Mutation_p.K1123*|PTPRG_uc011bfi.2_Nonsense_Mutation_p.K398*|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.	1152	Tyrosine-protein phosphatase 2.				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)		ACGACTGGAAAAGCAATTCAA	0.388000														34			12		0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9066121	9066121	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:9066121G>A	uc002mkp.3	-	2	21529	c.21325C>T	c.(21325-21327)Cct>Tct	p.P7109S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7111	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						GAAATGGGAGGAGGTGAGGTT	0.522000														44			14		0	0	0.004990	0	0
DNAH3	55567	broad.mit.edu	37	16	21069505	21069505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:21069505G>A	uc010vbe.2	-	26	3826	c.3826C>T	c.(3826-3828)Cac>Tac	p.H1276Y		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1276	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)		AAGACCCAGTGATTTCGAGGG	0.507000														31			9		0	0	0.008291	0	0
HRNR	388697	broad.mit.edu	37	1	152185640	152185640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:152185640C>T	uc001ezt.1	-	2	8541	c.8465G>A	c.(8464-8466)gGa>gAa	p.G2822E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2822					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)			GCCAGAACTTCCCCCATCATG	0.438000														78			106		0	0	0.003610	0	0
APOB	338	broad.mit.edu	37	2	21249823	21249823	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:21249823C>T	uc002red.3	-	14	2209	c.2081G>A	c.(2080-2082)gGa>gAa	p.G694E		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	694					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)	AAAGCCTTTTCCTTCCAAGCC	0.418000														176			84		0	0	0.003610	0	0
PLCB4	5332	broad.mit.edu	37	20	9391683	9391683	+	Splice_Site	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:9391683G>A	uc021wam.1	+	21	1979	c.1964_splice	c.e21-1	p.D655_splice	PLCB4_uc010gbw.1_Splice_Site_p.D655_splice|PLCB4_uc010gbx.3_Splice_Site_p.D667_splice|PLCB4_uc021wal.1_Splice_Site_p.D655_splice|PLCB4_uc002wnh.3_Splice_Site_p.D502_splice	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	655	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						TCTCTTGACAGATTTAGCGAT	0.378000														49			9		0	0	0.004482	0	0
ZNF512B	57473	broad.mit.edu	37	20	62598119	62598119	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:62598119G>A	uc002yhl.1	-	4	463	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	137					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)					AAGGCCAGGCGATCTGAGATG	0.652000														24			15		0	0	0.002450	0	0
AFM	173	broad.mit.edu	37	4	74354356	74354356	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:74354356G>A	uc003hhb.3	+	6	754	c.723G>A	c.(721-723)gcG>gcA	p.A241A		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	241	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)			GATATATTGCGATACTCAGTC	0.338000														49			17		0	0	0.006122	0	0
SLC7A1	6541	broad.mit.edu	37	13	30091756	30091756	+	Silent	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:30091756A>G	uc001uso.3	-	9	1851	c.1464T>C	c.(1462-1464)ccT>ccC	p.P488P		NM_003045	NP_003036	P30825	CTR1_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 (SLC7A1), mRNA.	488					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)	AGATTTTGGAAGGCTCCATGT	0.458000														104			38		0	0	0.002522	0	0
DCAF8	50717	broad.mit.edu	37	1	160194883	160194883	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:160194883G>A	uc001fvo.2	-	8	1482	c.1170C>T	c.(1168-1170)atC>atT	p.I390I	DCAF8_uc001fvn.2_Silent_p.I390I|DCAF8_uc009wth.2_Silent_p.I390I|DCAF8_uc010pjb.1_Silent_p.I390I|DCAF8_uc010pjc.1_Silent_p.I544I	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8 (DCAF8), transcript variant 1, mRNA.	390						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						CAAGACAGGTGATGTTTGCTT	0.547000														76			15		0	0	0.004990	0	0
ZNF536	9745	broad.mit.edu	37	19	30934865	30934865	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:30934865C>T	uc002nsu.1	+	1	534	c.396C>T	c.(394-396)tgC>tgT	p.C132C	ZNF536_uc010edd.1_Silent_p.C132C	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	132					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)					AGTACCCGTGCCCACTCTGCG	0.622000														43			17		0	0	0.006122	0	0
SLC25A13	10165	broad.mit.edu	37	7	95799394	95799394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:95799394G>A	uc003uog.4	-	12	1468	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L	SLC25A13_uc003uof.4_Missense_Mutation_p.S425L|SLC25A13_uc011kik.2_Missense_Mutation_p.S317L	NM_001160210	NP_001153682	Q9UJS0	CMC2_HUMAN	Homo sapiens solute carrier family 25, member 13 (citrin) (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	425					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding	p.S425L(2)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	AAGTGGGACCGAACCATCTTT	0.353000														81			23		0	0	0.003954	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:16279248C>T	uc010gqp.2	-	3	1027	c.975G>A	c.(973-975)gtG>gtA	p.V325V	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.V44V|POTEH_uc002zlj.1_Silent_p.V160V	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000														287			25		0	0	0.002096	0	0
ANO4	121601	broad.mit.edu	37	12	101381320	101381320	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:101381320C>T	uc010svm.1	+	7	1178	c.606C>T	c.(604-606)atC>atT	p.I202I	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Silent_p.I167I|ANO4_uc001thx.2_Silent_p.I202I	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	202						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						ACCACAGGATCGATAAACAAA	0.498000										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		274			128		0	0	0.003610	0	0
SLC9A5	6553	broad.mit.edu	37	16	67289037	67289037	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:67289037C>T	uc002esm.3	+	2	667	c.604C>T	c.(604-606)Ctc>Ttc	p.L202F	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.	202				L -> V (in Ref. 4; AAA87678).	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)		CAATGAGACTCTCTTTATCAT	0.587000														64			24		0	0	0.003330	0	0
SAMD11	148398	broad.mit.edu	37	1	865651	865651	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:865651C>T	uc001abw.1	+	2	269	c.189C>T	c.(187-189)ccC>ccT	p.P63P	SAMD11_uc001abv.1_Silent_p.P63P	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	Homo sapiens sterile alpha motif domain containing 11 (SAMD11), mRNA.	63						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)		GGAGTGGCCCCACCTGTGGGC	0.637000														5			4		0	0	0.009096	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142162112	142162112	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142162112G>A	uc011krx.2	-	1	178	c.163C>T	c.(163-165)Cga>Tga	p.R55*	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc022ani.1_Non-coding_Transcript|BV13S6J2.1_uc011krw.2_Nonsense_Mutation_p.R55*					SubName: Full=BV13S6J2.1 protein; Flags: Fragment;																		GGGTCTTGTCGATACCAGTAC	0.478000														171			41		0	0	0.002852	0	0
ADCY7	113	broad.mit.edu	37	16	50339454	50339454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:50339454G>A	uc002egd.1	+	11	1904	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N	ADCY7_uc002egc.2_Missense_Mutation_p.D546N	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	546					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)	TGACTCGTACGATGACGAGAT	0.607000														117			50		0	0	0.003610	0	0
PSG3	5671	broad.mit.edu	37	19	43233375	43233375	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:43233375G>A	uc002oue.3	-	4	1275	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.I381I	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	381	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)				TAATCTGGGGGATAAAGAGCT	0.458000														201			80		0	0	0.003610	0	0
CSTF2	1478	broad.mit.edu	37	X	100088234	100088234	+	Silent	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:100088234T>C	uc004egh.3	+	10	1331	c.1273T>C	c.(1273-1275)Tta>Cta	p.L425L	CSTF2_uc010nnd.3_Silent_p.L445L|CSTF2_uc004egi.3_Silent_p.L408L	NM_001325	NP_001316	P33240	CSTF2_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa (CSTF2), mRNA.	425	12 X 5 AA tandem repeats of M-E-A-R-[AG].				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	RNA binding|nucleotide binding|protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GGCAAGAGGGTTAGATGCCAG	0.557000														15			8		0	0	0.008291	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31146151	31146151	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:31146151G>A	uc003tca.2	+	15	1549	c.1260G>A	c.(1258-1260)gtG>gtA	p.V420V	ADCYAP1R1_uc003tcg.3_Silent_p.V448V|ADCYAP1R1_uc003tce.2_Silent_p.V447V|ADCYAP1R1_uc003tcb.2_Silent_p.V399V|ADCYAP1R1_uc003tcc.2_Silent_p.V448V	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	420					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GCTGGAAGGTGAACCGTTACT	0.592000														25			15		0	0	0.004007	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687745	27687745	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:27687745G>A	uc001itu.2	-	3	1900	c.1782C>T	c.(1780-1782)ccC>ccT	p.P594P		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	594					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						TTGTGAGAAAGGGGCCAAAAT	0.363000														20			7		0	0	0.001984	0	0
PCDH18	54510	broad.mit.edu	37	4	138450971	138450971	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:138450971C>T	uc003ihe.4	-	0	2659	c.2272G>A	c.(2272-2274)Gac>Aac	p.D758N	PCDH18_uc003ihf.4_Missense_Mutation_p.D751N|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.D538N|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	758					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)					AATGTGATGTCCCCTTTGTGA	0.498000														50			21		0	0	0.003330	0	0
SLC16A9	220963	broad.mit.edu	37	10	61443980	61443980	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:61443980A>G	uc010qig.1	-	1	519	c.70T>C	c.(70-72)Ttt>Ctt	p.F24L		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	24					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TAACACAAAAACTGAGTAAGG	0.478000														91			36		0	0	0.006230	0	0
SIRPD	128646	broad.mit.edu	37	20	1532446	1532446	+	Silent	SNP	G	A	A	rs111431969		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:1532446G>A	uc002wfi.3	-	1	356	c.312C>T	c.(310-312)atC>atT	p.I104I		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.	104	Ig-like V-type.					extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						AGATTTCACGGATGCGGGTGG	0.458000														62			40		0	0	0.006999	0	0
RETNLB	84666	broad.mit.edu	37	3	108475996	108475996	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:108475996G>A	uc003dxh.2	-	0	135	c.37C>T	c.(37-39)Ccc>Tcc	p.P13S		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	13					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						TGGAGAAGGGGGATTAGGATG	0.502000														23			25		0	0	0.005443	0	0
TACR2	6865	broad.mit.edu	37	10	71175909	71175909	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:71175909G>A	uc001jpn.2	-	0	766	c.171C>T	c.(169-171)atC>atT	p.I57I		NM_001057	NP_001048	P21452	NK2R_HUMAN	Homo sapiens tachykinin receptor 2 (TACR2), mRNA.	57					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)	GGGCCAGGATGATCCAGATGA	0.602000														40			18		0	0	0.006122	0	0
DSG1	1828	broad.mit.edu	37	18	28934464	28934464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:28934464C>T	uc002kwp.3	+	14	2517	c.2305C>T	c.(2305-2307)Cca>Tca	p.P769S	DSG1_uc010xbp.2_Missense_Mutation_p.P128S	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	769					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)			AGAATCATATCCAGACCTTGA	0.478000														83			33		0	0	0.002445	0	0
MYO15A	51168	broad.mit.edu	37	17	18025411	18025412	+	Silent	DNP	CC	TT	TT			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:18025411_18025412CC>TT	uc021trm.1	+	0	3516_3517	c.3297_3298CC>TT	c.(3295-3300)cccctg>ccTTtg	p.1099_1100PL>PL	MYO15A_uc021trl.1_Silent_p.1099_1100PL>PL	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1099	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)					CCCCAGAGCCCCTGCCCAAGGG	0.683000														61			27		0	0	0.004672	0	0
CDH8	1006	broad.mit.edu	37	16	61747794	61747794	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:61747794G>A	uc002eog.2	-	9	2560	c.1605C>T	c.(1603-1605)ctC>ctT	p.L535L		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	535	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)		TTTCTGGAAGGAGACTGTATA	0.348000														38			10		0	0	0.006214	0	0
GRB14	2888	broad.mit.edu	37	2	165404212	165404212	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:165404212G>A	uc002ucl.3	-	2	980	c.439C>T	c.(439-441)Cac>Tac	p.H147Y	GRB14_uc010zcv.2_Missense_Mutation_p.H60Y	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	147	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						GTCCAGCTGTGGTCATCAATG	0.448000														23			7		0	0	0.004482	0	0
AFAP1	60312	broad.mit.edu	37	4	7787987	7787987	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:7787987G>A	uc011bwk.1	-	11	1737	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S	AFAP1_uc003gkg.1_Silent_p.S488S	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	488						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CATAGCCGTTGGAGGTGCCCC	0.483000														83			41		0	0	0.002852	0	0
CCDC142	84865	broad.mit.edu	37	2	74709906	74709906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:74709906C>T	uc002slr.3	-	0	452	c.59G>A	c.(58-60)aGg>aAg	p.R20K	TTC31_uc002sls.2_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.3_Non-coding_Transcript|CCDC142_uc002slq.3_Missense_Mutation_p.R20K|CCDC142_uc002slp.2_Missense_Mutation_p.R20K	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	Homo sapiens coiled-coil domain containing 142 (CCDC142), mRNA.	20										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GGGTTGCGCCCTCAGCGGGGG	0.667000														74			20		0	0	0.008871	0	0
OTUD7B	56957	broad.mit.edu	37	1	149942998	149942998	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:149942998G>A	uc001etn.3	-	2	623	c.267C>T	c.(265-267)atC>atT	p.I89I	OTUD7B_uc001eto.3_Missense_Mutation_p.S55L	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	89					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)			TACCTTGAACGATGTCATCCT	0.522000														63			56		0	0	0.003610	0	0
OR1J4	26219	broad.mit.edu	37	9	125282145	125282145	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:125282145C>T	uc011lyw.2	+	0	726	c.726C>T	c.(724-726)ggC>ggT	p.G242G		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CCACCTGTGGCTCTCACCTCT	0.473000														44			25		0	0	0.003954	0	0
DCC	1630	broad.mit.edu	37	18	50278691	50278691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:50278691C>T	uc002lfe.2	+	1	975	c.359C>T	c.(358-360)tCt>tTt	p.S120F	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	120	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)		TGTGAGGCATCTTTAGGAGAT	0.448000														80			30		0	0	0.009535	0	0
ZNF679	168417	broad.mit.edu	37	7	63727078	63727078	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:63727078A>T	uc003tsx.3	+	4	1336	c.1067A>T	c.(1066-1068)gAa>gTa	p.E356V		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	356					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						AAATGTAAAGAATGTGGGAAA	0.393000														18			5		0	0	0.000602	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148887936	148887936	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:148887936G>A	uc003ilf.3	+	17	1662	c.1662G>A	c.(1660-1662)atG>atA	p.M554I	ARHGAP10_uc003ilg.3_Missense_Mutation_p.M203I|ARHGAP10_uc003ilh.3_Missense_Mutation_p.M135I	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.	554	Rho-GAP.				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)		CTGCCCTCATGGACTTGAAGT	0.403000														47			18		0	0	0.007413	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150526424	150526424	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:150526424G>A	uc009wlw.3	+	4	1115	c.957G>A	c.(955-957)acG>acA	p.T319T	ADAMTSL4_uc001euw.3_Silent_p.T319T|ADAMTSL4_uc001eux.3_Silent_p.T319T|ADAMTSL4_uc010pcg.2_Silent_p.T319T	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	319					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)			CTTGGGGAACGGGGGGGACTC	0.721000														16			12		0	0	0.000978	0	0
NSUN7	79730	broad.mit.edu	37	4	40778152	40778152	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:40778152G>A	uc003gvj.4	+	6	1407	c.912G>A	c.(910-912)tgG>tgA	p.W304*	NSUN7_uc003gvi.4_Nonsense_Mutation_p.W304*	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						CAGGCTCATGGTACACAGTTT	0.368000														34			13		0	0	0.001368	0	0
POU5F2	134187	broad.mit.edu	37	5	93076823	93076823	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:93076823G>A	uc003kkl.1	-	0	487	c.447C>T	c.(445-447)atC>atT	p.I149I	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.	149	POU-specific.					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)		CTCCCACAGCGATCCCCACAT	0.582000														32			7		0	0	0.003080	0	0
PYGO2	90780	broad.mit.edu	37	1	154931902	154931902	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:154931902G>A	uc001fft.3	-	2	780	c.574C>T	c.(574-576)Ccc>Tcc	p.P192S		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA.	192	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding	p.P192S(2)|p.G191C(1)		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)			GAGATCATGGGACCAAATCCC	0.587000														112			23		0	0	0.003330	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765833	77765833	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:77765833A>C	uc003yau.2	+	9	7063	c.6676A>C	c.(6676-6678)Aaa>Caa	p.K2226Q	ZFHX4_uc003yaw.1_Missense_Mutation_p.K2181Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2181						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)			ATCATTCAGTAAAAGGTCTTC	0.373000										HNSCC(33;0.089)				40			22		0	0	0.010504	0	0
MUSK	4593	broad.mit.edu	37	9	113496637	113496637	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:113496637G>A	uc022blv.1	+	5	869	c.735G>A	c.(733-735)tgG>tgA	p.W245*	MUSK_uc022blt.1_Nonsense_Mutation_p.W245*|MUSK_uc004bez.2_Nonsense_Mutation_p.W255*|MUSK_uc022blu.1_Nonsense_Mutation_p.W245*	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	245	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						CCATCACCTGGATTGAAAACG	0.512000														47			25		0	0	0.006320	0	0
C8orf4	56892	broad.mit.edu	37	8	40011284	40011284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:40011284C>T	uc003xnq.2	+	0	298	c.233C>T	c.(232-234)aCg>aTg	p.T78M		NM_020130	NP_064515	Q9NR00	CH004_HUMAN	Homo sapiens chromosome 8 open reading frame 4 (C8orf4), mRNA.	78					apoptosis					breast(1)|large_intestine(1)|ovary(1)	3	Ovarian(28;0.0173)	all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141)	LUSC - Lung squamous cell carcinoma(45;0.000149)	KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		GAGGAGAAAACGCGTGCCCTG	0.433000														62			21		0	0	0.002780	0	0
SLC12A3	6559	broad.mit.edu	37	16	56928554	56928554	+	Splice_Site	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:56928554C>T	uc002ekd.4	+	22	2689	c.2660_splice	c.e22+1	p.A887_splice	SLC12A3_uc010ccm.3_Splice_Site_p.A878_splice|SLC12A3_uc010ccn.3_Splice_Site_p.A886_splice	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	878					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)	GAGAGAAAGGCGTAAGTGTGG	0.582000														20			7		0	0	0.001984	0	0
DNAJC13	23317	broad.mit.edu	37	3	132172289	132172289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:132172289G>A	uc003eor.3	+	6	750	c.685G>A	c.(685-687)Gat>Aat	p.D229N	DNAJC13_uc010htq.2_Missense_Mutation_p.D229N|DNAJC13_uc003eos.1_5'Flank	NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	229							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						ATACAGCACTGATGAATCCAT	0.363000														42			22		0	0	0.002780	0	0
BBS10	79738	broad.mit.edu	37	12	76740304	76740304	+	Silent	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:76740304T>C	uc001syd.1	-	1	1545	c.1461A>G	c.(1459-1461)ttA>ttG	p.L487L		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Homo sapiens Bardet-Biedl syndrome 10 (BBS10), mRNA.	487					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						AATGTACTTTTAAATATGTTT	0.368000									Bardet-Biedl syndrome					61			24		0	0	0.002780	0	0
PRKDC	5591	broad.mit.edu	37	8	48801780	48801781	+	Silent	DNP	GG	AA	AA			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:48801780_48801781GG>AA	uc003xqi.3	-	33	4128_4129	c.4071_4072CC>TT	c.(4069-4074)ctcctg>ctTTtg	p.1357_1358LL>LL	PRKDC_uc003xqj.3_Silent_p.1357_1358LL>LL	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	1358					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)				TCCTTCTTCAGGAGCTGTAACA	0.480000								Non-homologous end-joining						19			7		0	0	0.004672	0	0
EPRS	2058	broad.mit.edu	37	1	220192405	220192405	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:220192405G>A	uc001hly.1	-	10	1636	c.1366C>T	c.(1366-1368)Cct>Tct	p.P456S	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Missense_Mutation_p.P207S|EPRS_uc001hlz.1_Missense_Mutation_p.P456S|EPRS_uc009xdt.1_Missense_Mutation_p.P179S	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	456	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CGAACCGTAGGAAATCTTGGG	0.378000														50			23		0	0	0.004656	0	0
PKD2L2	27039	broad.mit.edu	37	5	137235267	137235267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:137235267G>A	uc003lby.3	+	4	643	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	PKD2L2_uc010jep.1_Missense_Mutation_p.R136Q|PKD2L2_uc003lbw.1_Missense_Mutation_p.R196Q|PKD2L2_uc003lbx.3_Missense_Mutation_p.R196Q|PKD2L2_uc011cyi.1_5'UTR	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA.	196						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)			GGTGTTTACCGAAATGGGGGA	0.383000														43			17		0	0	0.010504	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55360232	55360232	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:55360232G>A	uc003pcn.3	-	7	1029	c.870C>T	c.(868-870)atC>atT	p.I290I	HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Silent_p.I260I|HMGCLL1_uc010jzx.3_Silent_p.I161I|HMGCLL1_uc011dxc.2_Silent_p.I228I|HMGCLL1_uc011dxd.2_Silent_p.I157I	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	290							hydroxymethylglutaryl-CoA lyase activity|metal ion binding	p.I290F(1)		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)			GGGCCGTAAGGATATTTGCTA	0.388000														20			11		0	0	0.001368	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417327	150417327	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:150417327G>A	uc003whq.3	+	2	375	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	GIMAP1-GIMAP5_uc022apw.1_Missense_Mutation_p.E79K	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.									p.E79K(1)									GTGCCACGTGGAAGTCGTGGA	0.637000														72			24		0	0	0.002780	0	0
KCNQ5	56479	broad.mit.edu	37	6	73751747	73751747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:73751747G>A	uc011dyh.2	+	2	925	c.578G>A	c.(577-579)gGa>gAa	p.G193E	KCNQ5_uc003pgj.4_Missense_Mutation_p.G193E|KCNQ5_uc011dyi.2_Missense_Mutation_p.G193E|KCNQ5_uc010kat.3_Missense_Mutation_p.G193E|KCNQ5_uc003pgk.3_Missense_Mutation_p.G193E|KCNQ5_uc011dyj.2_Missense_Mutation_p.G193E|KCNQ5_uc011dyk.2_Intron	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	193					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)		GGATGGCAAGGAAGACTGAGG	0.438000														46			53		0	0	0.003610	0	0
KIAA0090	23065	broad.mit.edu	37	1	19568942	19568942	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:19568942G>A	uc001bbo.3	-	4	449	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L	KIAA0090_uc001bbp.3_Silent_p.L136L|KIAA0090_uc001bbq.3_Silent_p.L136L|KIAA0090_uc001bbr.3_Silent_p.L114L	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	136						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)		GACTCCTGCAGGCCAACCAGC	0.557000														26			15		0	0	0.004990	0	0
SLC22A16	85413	broad.mit.edu	37	6	110746124	110746124	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:110746124C>T	uc003puf.3	-	7	1753	c.1686G>A	c.(1684-1686)ctG>ctA	p.L562L	SLC22A16_uc003pue.3_Silent_p.L543L	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	562					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CCGTTTTTTCCAGCCCACTAT	0.443000														51			20		0	0	0.010504	0	0
CNTN5	53942	broad.mit.edu	37	11	100169958	100169958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:100169958G>A	uc001pga.3	+	19	2954	c.2450G>A	c.(2449-2451)gGa>gAa	p.G817E	CNTN5_uc001pfz.3_Missense_Mutation_p.G817E|CNTN5_uc021qpb.1_Missense_Mutation_p.G817E|CNTN5_uc021qpc.1_Missense_Mutation_p.G743E|CNTN5_uc010ruk.2_Missense_Mutation_p.G88E	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	817	Fibronectin type-III 2.				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)		AGACCCAATGGAACACGTGGC	0.393000														10			8		0	0	0.003080	0	0
TPO	7173	broad.mit.edu	37	2	1499897	1499897	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:1499897C>T	uc002qwr.3	+	11	2229	c.2143C>T	c.(2143-2145)Ccc>Tcc	p.P715S	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.P715S|TPO_uc002qwx.3_Missense_Mutation_p.P658S|TPO_uc002qwu.3_Missense_Mutation_p.P658S|TPO_uc010yio.2_Missense_Mutation_p.P542S|TPO_uc010yip.2_Missense_Mutation_p.P715S|TPO_uc002qwy.1_Missense_Mutation_p.P55S|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	715					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	p.F714F(1)		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)	CGGCAAATTCCCCGAAGACTT	0.562000														15			3		0	0	0.003080	0	0
GPR111	222611	broad.mit.edu	37	6	47649895	47649895	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:47649895T>A	uc010jzj.1	+	5	1601	c.1600T>A	c.(1600-1602)Ttc>Atc	p.F534I	GPR111_uc003oyy.3_Missense_Mutation_p.F466I	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	534					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTCTGTATTTTTCTGGATGCT	0.443000														35			12		0	0	0.000978	0	0
CEP135	9662	broad.mit.edu	37	4	56878146	56878146	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:56878146C>T	uc003hbi.3	+	20	3031	c.2797C>T	c.(2797-2799)Caa>Taa	p.Q933*	CEP135_uc003hbj.3_Nonsense_Mutation_p.Q639*	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.	933					G2/M transition of mitotic cell cycle|centriole replication|centriole-centriole cohesion	centriole|cytosol	protein C-terminus binding	p.Q933E(2)		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)					AAAAGAAATTCAAGAGGTAAT	0.299000														10			5		0	0	0.000602	0	0
OR6V1	346517	broad.mit.edu	37	7	142750181	142750181	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142750181C>T	uc011ksv.2	+	0	744	c.744C>T	c.(742-744)atC>atT	p.I248I		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TGGTCTTCATCGGCTACAGTA	0.552000														116			41		0	0	0.008740	0	0
ABLIM2	84448	broad.mit.edu	37	4	8009875	8009875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:8009875G>A	uc003gko.3	-	14	1570	c.1427C>T	c.(1426-1428)tCt>tTt	p.S476F	ABLIM2_uc003gkk.3_Missense_Mutation_p.S140F|ABLIM2_uc003gkl.3_Missense_Mutation_p.S204F|ABLIM2_uc003gkm.4_Missense_Mutation_p.S424F|ABLIM2_uc003gkp.3_Missense_Mutation_p.S435F|ABLIM2_uc003gkq.3_Missense_Mutation_p.S476F|ABLIM2_uc003gkr.3_Missense_Mutation_p.S425F|ABLIM2_uc003gkj.4_Missense_Mutation_p.S510F|ABLIM2_uc003gks.3_Missense_Mutation_p.S436F	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	476					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						CAGGTCTGGAGAATTGGTCCT	0.532000														62			33		0	0	0.002096	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450336	85450336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:85450336G>A	uc001tac.3	+	7	1876	c.1765G>A	c.(1765-1767)Gaa>Aaa	p.E589K	LRRIQ1_uc021rbo.1_Missense_Mutation_p.E467K|LRRIQ1_uc001taa.1_Missense_Mutation_p.E564K	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	589										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)		AGTAGAAAAAGAAGAGATACA	0.289000														15			4		0	0	0.009096	0	0
KCTD16	57528	broad.mit.edu	37	5	143586533	143586533	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:143586533C>T	uc003lnm.1	+	2	885	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L	KCTD16_uc003lnn.1_Silent_p.L86L	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	86	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CCGTTATATTCTGGACTATCT	0.458000														21			12		0	0	0.001855	0	0
SMCR7	125170	broad.mit.edu	37	17	18167891	18167891	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:18167891C>T	uc010vxq.2	+	3	1237	c.1211C>T	c.(1210-1212)aCg>aTg	p.T404M	SMCR7_uc002gsu.3_3'UTR|SMCR7_uc002gst.3_Missense_Mutation_p.T393M	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.	393						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					GTGGATTGGACGGAGGAGGCC	0.667000														66			26		0	0	0.006320	0	0
NLRP4	147945	broad.mit.edu	37	19	56369832	56369832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:56369832G>A	uc002qmd.4	+	2	1495	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	NLRP4_uc002qmf.3_Missense_Mutation_p.G283E|NLRP4_uc010etf.3_Missense_Mutation_p.G189E	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	358	NACHT.						ATP binding	p.G358R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATGCAGAAAGGAAAAGACCTG	0.512000														43			17		0	0	0.004007	0	0
TECPR2	9895	broad.mit.edu	37	14	102881014	102881014	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:102881014C>T	uc001ylw.2	+	4	748	c.522C>T	c.(520-522)tcC>tcT	p.S174S	TECPR2_uc010txw.2_Silent_p.S174S|TECPR2_uc010awl.3_Silent_p.S174S|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	174							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						AGCCATCTTCCATTGTGCAGC	0.493000														69			37		0	0	0.006999	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454215	114454215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:114454215C>T	uc001eeg.3	+	3	1295	c.1001C>T	c.(1000-1002)cCa>cTa	p.P334L	DCLRE1B_uc001eeh.3_Missense_Mutation_p.P208L|DCLRE1B_uc001eei.3_Missense_Mutation_p.P208L	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	334					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)		TCTAGAAAACCAAGCCTTCTC	0.522000								Other identified genes with known or suspected DNA repair function						42			18		0	0	0.007413	0	0
MPO	4353	broad.mit.edu	37	17	56348085	56348085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:56348085G>A	uc002ivu.1	-	11	2347	c.2170C>T	c.(2170-2172)Ccc>Tcc	p.P724S		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	724					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)	AAGTCCCGGGGATATGAGTTG	0.562000														28			15		0	0	0.002450	0	0
CRMP1	1400	broad.mit.edu	37	4	5868472	5868472	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:5868472G>A	uc003gis.3	-	1	482	c.393C>T	c.(391-393)ctC>ctT	p.L131L	CRMP1_uc003giq.3_Silent_p.L17L|CRMP1_uc003gir.3_Silent_p.L12L	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA.	17					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	p.R130P(1)		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)		CTTTGATGAGGAGTCGGTCAC	0.393000														44			15		0	0	0.004990	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480581	140480581	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:140480581C>T	uc003lio.3	+	0	348	c.348C>T	c.(346-348)ttC>ttT	p.F116F	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	116	Cadherin 1.				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)			CTTTGCAATTCGTTACAAACG	0.418000														48			40		0	0	0.004878	0	0
SCN11A	11280	broad.mit.edu	37	3	38908887	38908887	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:38908887G>A	uc021wvy.1	-	22	4075	c.3876C>T	c.(3874-3876)atC>atT	p.I1292I		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1292					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)	AGCCAAAGATGATAAAGACTA	0.333000														38			20		0	0	0.001882	0	0
ESM1	11082	broad.mit.edu	37	5	54281315	54281315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:54281315G>A	uc003jpk.3	-	0	100	c.31C>T	c.(31-33)Ctc>Ttc	p.L11F	ESM1_uc010ivt.3_Missense_Mutation_p.L11F	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	Homo sapiens endothelial cell-specific molecule 1 (ESM1), transcript variant 1, mRNA.	11					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			GCAGGCACGAGGAGCGTGGTC	0.602000														29			11		0	0	0.001368	0	0
PDGFRB	5159	broad.mit.edu	37	5	149497194	149497194	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:149497194G>A	uc003lro.3	-	21	3593	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S	PDGFRB_uc010jhd.3_Missense_Mutation_p.P881S	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	1042					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)	GCTAGGCTGGGGGAACCCTCC	0.617000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									49			10		0	0	0.003163	0	0
CASR	846	broad.mit.edu	37	3	121980863	121980863	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:121980863C>T	uc003eew.4	+	3	1419	c.981C>T	c.(979-981)atC>atT	p.I327I	CASR_uc003eev.4_Silent_p.I327I	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	327					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)	CTGGGCAGATCCCAGGCTTCC	0.567000														53			23		0	0	0.002299	0	0
CNGB3	54714	broad.mit.edu	37	8	87738864	87738864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:87738864G>A	uc003ydx.3	-	2	281	c.233C>T	c.(232-234)tCc>tTc	p.S78F		NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	78					signal transduction|visual perception	integral to membrane	cGMP binding	p.S78F(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATCTCCAGAGGAATTTTTCTT	0.428000														172			71		0	0	0.003610	0	0
DNALI1	7802	broad.mit.edu	37	1	38025064	38025064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:38025064C>T	uc001cbj.3	+	2	440	c.430C>T	c.(430-432)Cct>Tct	p.P144S	DNALI1_uc010oie.2_Intron	NM_003462	NP_003453	O14645	IDLC_HUMAN	Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA.	122					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGCATCTGCCCTGTCCGCAG	0.592000														31			18		0	0	0.002299	0	0
MEP1A	4224	broad.mit.edu	37	6	46803009	46803009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:46803009G>A	uc011dwh.1	+	11	1899	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K	MEP1A_uc010jzh.1_Missense_Mutation_p.E603K|MEP1A_uc011dwg.1_Missense_Mutation_p.E325K|MEP1A_uc011dwi.1_Missense_Mutation_p.E503K	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	603					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.S630L(1)		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)			CAGCCAGACTGAAGTTCCCAC	0.488000														10			3		0	0	0.004672	0	0
ATP8A1	10396	broad.mit.edu	37	4	42448649	42448649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:42448649C>T	uc003gwr.2	-	30	3141	c.2909G>A	c.(2908-2910)gGa>gAa	p.G970E	ATP8A1_uc003gwq.2_Missense_Mutation_p.G196E|ATP8A1_uc003gws.2_Missense_Mutation_p.G955E	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	970					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)	TTTCCCATTTCCAAATGCAGT	0.398000														35			11		0	0	0.001368	0	0
KL	9365	broad.mit.edu	37	13	33638239	33638239	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:33638239C>T	uc001uus.3	+	4	2963	c.2955C>T	c.(2953-2955)ttC>ttT	p.F985F		NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	985					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)		TACTGGCTTTCATAGCTTTTC	0.373000														40			24		0	0	0.002299	0	0
SUSD2	56241	broad.mit.edu	37	22	24579589	24579589	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:24579589C>T	uc002zzn.1	+	2	458	c.414C>T	c.(412-414)ttC>ttT	p.F138F		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	138					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						GCCACTCCTTCCCTCGTGCGG	0.637000														43			13		0	0	0.001368	0	0
KRT1	3848	broad.mit.edu	37	12	53070165	53070165	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:53070165C>T	uc001sau.1	-	6	1428	c.1369G>A	c.(1369-1371)Gac>Aac	p.D457N	KRT1_uc001sav.1_Missense_Mutation_p.D457N	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	457	Coil 2.|Rod.				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						CGGGCCAGGTCTTCCTTGGCC	0.592000														41			16		0	0	0.006122	0	0
CALCRL	10203	broad.mit.edu	37	2	188210982	188210982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:188210982C>T	uc010frt.3	-	13	1698	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	CALCRL_uc002upv.4_Missense_Mutation_p.E439K	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	439						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TTTAAGTGTTCACTAGGACAG	0.353000														26			6		0	0	0.001984	0	0
TRIM62	55223	broad.mit.edu	37	1	33625345	33625345	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:33625345C>T	uc001bxb.3	-	2	1343	c.705G>A	c.(703-705)cgG>cgA	p.R235R		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	Homo sapiens tripartite motif containing 62 (TRIM62), mRNA.	235						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)				TTTCAGCCAGCCGCTCCTGCA	0.692000														29			23		0	0	0.002780	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751914	26751914	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:26751914G>A	uc003cdp.3	+	1	1340	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	LRRC3B_uc003cdq.3_Missense_Mutation_p.E251K|LRRC3B_uc021wuj.1_Missense_Mutation_p.E251K	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	251						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GAAAGCAGATGAACCTGATGA	0.413000														35			12		0	0	0.003163	0	0
CYLC2	1539	broad.mit.edu	37	9	105767323	105767323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:105767323G>A	uc004bbs.2	+	4	480	c.410G>A	c.(409-411)gGa>gAa	p.G137E		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	137	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)				TTAaaacaaggaaaaaaagat	0.328000														24			3		0	0	0.004672	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839460	27839460	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:27839460G>A	uc022bud.1	+	0	37	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	MAGEB10_uc004dbw.3_Missense_Mutation_p.E13K	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.	13										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						CCGTGCCAGGGAAAAACGCCG	0.527000														39			15		0	0	0.006122	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564501	66564501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:66564501G>A	uc002lkk.2	+	7	1322	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	CCDC102B_uc002lki.2_Missense_Mutation_p.E367K|CCDC102B_uc002lkj.1_Missense_Mutation_p.E367K	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	367										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GGACAAGAGGGAAATACTTGA	0.403000														62			15		0	0	0.004990	0	0
GPX1	2876	broad.mit.edu	37	3	49395482	49395482	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:49395482G>C	uc021wxw.1	-	0	310	c.230C>G	c.(229-231)cCg>cGg	p.P77R	GPX1_uc021wxx.1_Missense_Mutation_p.P77R	NM_000581	NP_000572	P07203	GPX1_HUMAN	Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1, mRNA.	77					UV protection|anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion	cytosol|mitochondrion	SH3 domain binding|endopeptidase inhibitor activity|glutathione peroxidase activity			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CTGGTTGCACGGGAAGCCGAG	0.726000														20			3		0	0	0.004672	0	0
LAD1	3898	broad.mit.edu	37	1	201354881	201354881	+	Missense_Mutation	SNP	C	T	T	rs143101113		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:201354881C>T	uc001gwm.3	-	3	1314	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	LAD1_uc009wzu.1_Missense_Mutation_p.R382Q	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	360						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCTGTAGGTTCGCTGTGTGGG	0.597000											OREG0014078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		112			146		0	0	0.003610	0	0
ASAP1	50807	broad.mit.edu	37	8	131179807	131179807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:131179807G>A	uc003yta.2	-	10	1112	c.884C>T	c.(883-885)tCc>tTc	p.S295F	ASAP1_uc003ysz.2_Missense_Mutation_p.S103F|ASAP1_uc011liw.2_Missense_Mutation_p.S288F	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	295					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	p.K294*(1)		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						TTGAAGAGAGGATTTTATTAA	0.358000														166			62		0	0	0.003610	0	0
ARMC4	55130	broad.mit.edu	37	10	28233336	28233336	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:28233336C>T	uc009xky.3	-	11	1656	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	ARMC4_uc010qds.2_Missense_Mutation_p.E45K|ARMC4_uc010qdt.2_Missense_Mutation_p.E212K|ARMC4_uc001itz.3_Missense_Mutation_p.E520K|ARMC4_uc010qdu.1_Missense_Mutation_p.E212K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	520							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGACTGATTTCCTTCAGTATT	0.343000														17			12		0	0	0.000978	0	0
EPHA7	2045	broad.mit.edu	37	6	93974317	93974317	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:93974317C>T	uc003poe.3	-	7	1978	c.1737G>A	c.(1735-1737)ggG>ggA	p.G579G	EPHA7_uc003pof.3_Silent_p.G574G|EPHA7_uc011eac.2_Silent_p.G579G	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	579						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)		TCTACCTTCTCCCAATGATGA	0.348000														21			17		0	0	0.006122	0	0
CSTL1	128817	broad.mit.edu	37	20	23420962	23420962	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:23420962G>A	uc002wte.3	+	1	304	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	CSTL1_uc010zsu.2_Non-coding_Transcript|CSTL1_uc010zsv.2_Non-coding_Transcript	NM_138283	NP_612140	Q9H114	CST1L_HUMAN	Homo sapiens cystatin-like 1 (CSTL1), mRNA.	20						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					GGTCCTGTCAGCCAAGCTGGG	0.512000														35			20		0	0	0.008871	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256963	24256963	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:24256963C>T	uc003xdz.2	+	9	1207	c.987C>T	c.(985-987)tcC>tcT	p.S329S	ADAMDEC1_uc010lub.2_Silent_p.S250S|ADAMDEC1_uc011lab.1_Silent_p.S250S	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	329	Peptidase M12B.				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)		CCTTGTGTTCCCCATCTTCGG	0.418000														54			16		0	0	0.001882	0	0
SCN11A	11280	broad.mit.edu	37	3	38908899	38908899	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:38908899G>A	uc021wvy.1	-	22	4063	c.3864C>T	c.(3862-3864)ttC>ttT	p.F1288F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1288					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)	TAAAGACTACGAAGTAAATGT	0.338000														46			11		0	0	0.001368	0	0
MAP4K4	9448	broad.mit.edu	37	2	102486842	102486842	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:102486842A>G	uc002tbc.3	+	22	3103	c.2725A>G	c.(2725-2727)Acc>Gcc	p.T909A	MAP4K4_uc002tbf.3_Missense_Mutation_p.T798A|MAP4K4_uc002tbd.3_Missense_Mutation_p.T801A|MAP4K4_uc010yvy.2_Missense_Mutation_p.T824A|MAP4K4_uc002tbh.3_Missense_Mutation_p.T746A|MAP4K4_uc002tbg.3_Missense_Mutation_p.T828A|MAP4K4_uc002tbi.3_Missense_Mutation_p.T631A|MAP4K4_uc010yvz.2_Missense_Mutation_p.T804A|MAP4K4_uc002tbk.3_Missense_Mutation_p.T283A|MAP4K4_uc021vlq.1_Missense_Mutation_p.T14A|MAP4K4_uc002tbl.3_Missense_Mutation_p.T14A	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	828	Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.T909T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCCGGCCATGACCCCATCCAA	0.478000														14			5		0	0	0.001168	0	0
TP63	8626	broad.mit.edu	37	3	189455613	189455613	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:189455613C>T	uc003fry.2	+	1	236	c.147C>T	c.(145-147)ttC>ttT	p.F49F	TP63_uc003frx.2_Silent_p.F49F|TP63_uc003frz.2_Silent_p.F49F|TP63_uc010hzc.1_Silent_p.F49F	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	49	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	p.E48*(1)		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)		CAAATGAATTCCTCAGTCCAG	0.388000										HNSCC(45;0.13)				46			36		0	0	0.003755	0	0
IGFBP5	3488	broad.mit.edu	37	2	217543705	217543705	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:217543705G>A	uc002vgj.4	-	1	1209	c.435C>T	c.(433-435)tcC>tcT	p.S145S		NM_000599	NP_000590	P24593	IBP5_HUMAN	Homo sapiens insulin-like growth factor binding protein 5 (IGFBP5), mRNA.	145					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)		CCTTCAGCTCGGAGATGCGGG	0.602000														63			23		0	0	0.001882	0	0
CLIP2	7461	broad.mit.edu	37	7	73815895	73815895	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:73815895G>A	uc003uam.3	+	15	3454	c.3127G>A	c.(3127-3129)Gag>Aag	p.E1043K	CLIP2_uc003uan.3_Missense_Mutation_p.E1008K	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	1043						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						TCAGAAACAAGAGGTGAGGGG	0.557000											OREG0018117	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			7		0	0	0.006214	0	0
CPT1A	1374	broad.mit.edu	37	11	68560846	68560846	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:68560846G>A	uc001oog.4	-	8	1074	c.904C>T	c.(904-906)Cca>Tca	p.P302S	CPT1A_uc001oof.4_Missense_Mutation_p.P302S	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	302					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GAGCAGAGTGGAATCGTGGAT	0.507000														5			7		0	0	0.004482	0	0
DCHS2	54798	broad.mit.edu	37	4	155157406	155157406	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:155157406G>A	uc003inw.2	-	24	7033	c.7033C>T	c.(7033-7035)Ccg>Tcg	p.P2345S		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2345	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P2345S(2)|p.P2345L(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)		TCTCCATACGGACCAGCATCA	0.403000														52			20		0	0	0.007413	0	0
GDF2	2658	broad.mit.edu	37	10	48413649	48413649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:48413649C>T	uc001jfa.1	-	1	1379	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	407					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						CCCATGTCATCCTTGTAGAGG	0.612000														22			6		0	0	0.001168	0	0
DLEC1	9940	broad.mit.edu	37	3	38104270	38104270	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:38104270C>T	uc003chp.1	+	4	1093	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	DLEC1_uc003cho.1_Nonsense_Mutation_p.Q358*|DLEC1_uc010hgv.1_Nonsense_Mutation_p.Q358*|DLEC1_uc010hgw.1_Nonsense_Mutation_p.Q57*|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.	358					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)		AGGAGAATTCCAGAGTACAGA	0.468000														38			9		0	0	0.004482	0	0
FAM47C	442444	broad.mit.edu	37	X	37029438	37029438	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:37029438C>T	uc004ddl.2	+	0	3007	c.2955C>T	c.(2953-2955)ttC>ttT	p.F985F		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	985										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						TTAAGGATTTCATTCTAAGCA	0.448000														104			47		0	0	0.003610	0	0
NEK11	79858	broad.mit.edu	37	3	130748605	130748605	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:130748605C>T	uc003eny.3	+	2	379	c.53C>T	c.(52-54)tCc>tTc	p.S18F	NEK11_uc003enx.3_Missense_Mutation_p.S18F|NEK11_uc003eoa.3_Missense_Mutation_p.S18F|NEK11_uc003enz.3_5'UTR|NEK11_uc011blk.2_5'UTR|NEK11_uc011bll.2_Missense_Mutation_p.S18F|NEK11_uc003enw.1_Missense_Mutation_p.S18F|NEK11_uc011blm.2_Missense_Mutation_p.S18F|ASTE1_uc010htm.1_5'Flank|ASTE1_uc003env.1_5'Flank|ASTE1_uc011blj.1_5'Flank	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 11 (NEK11), transcript variant 1, mRNA.	18					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						ACAGCCATTTCCACTTATCCA	0.403000														39			24		0	0	0.003330	0	0
DHX38	9785	broad.mit.edu	37	16	72130758	72130759	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:72130758_72130759CC>TT	uc002fcb.3	+	2	716_717	c.361_362CC>TT	c.(361-363)ccg>TTg	p.P121L	TXNL4B_uc010vmn.2_5'Flank|TXNL4B_uc010vmo.2_5'Flank|DHX38_uc010vmp.2_Intron|DHX38_uc010cgn.1_Non-coding_Transcript	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	121					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.P121P(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)				TCCATCCCATCCGGGTGGTGTG	0.540000														177			53		0	0	0.004672	0	0
IDH3B	3420	broad.mit.edu	37	20	2644629	2644629	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:2644629G>A	uc002wgp.3	-	1	68	c.59C>T	c.(58-60)cCt>cTt	p.P20L	IDH3B_uc002wgq.3_Missense_Mutation_p.P20L|IDH3B_uc002wgr.3_5'UTR|IDH3B_uc010zpz.1_Missense_Mutation_p.P20L	NM_006899	NP_008830	O43837	IDH3B_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) beta (IDH3B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	20					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	CCATGCCCCAGGGTTCCCGGC	0.617000														41			8		0	0	0.004482	0	0
PRR11	55771	broad.mit.edu	37	17	57274953	57274953	+	Silent	SNP	C	T	T	rs140410241	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:57274953C>T	uc002ixf.2	+	7	1218	c.906C>T	c.(904-906)gtC>gtT	p.V302V	PRR11_uc021uar.1_Non-coding_Transcript	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	Homo sapiens proline rich 11 (PRR11), mRNA.	302								p.K301K(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTAGAAAAGTCGATGTAGAGA	0.378000														48			10		0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179516677	179516677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179516677C>T	uc021vsy.1	-	158	32236	c.32011G>A	c.(32011-32013)Gaa>Aaa	p.E10671K	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.	11598	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)			AGGGCAACTTCCTCAGGCTCC	0.468000														16			5		0	0	0.001984	0	0
PCID2	55795	broad.mit.edu	37	13	113835476	113835476	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:113835476G>A	uc021rmt.1	-	9	997	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L	PCID2_uc001vtb.2_Silent_p.L85L|PCID2_uc021rmq.1_Silent_p.L252L|PCID2_uc021rmr.1_Silent_p.L252L|PCID2_uc021rms.1_Silent_p.L252L	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.	252	PCI.				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			AAATAGATCAGAATCATCCTT	0.413000														36			6		0	0	0.003080	0	0
MYEF2	50804	broad.mit.edu	37	15	48451941	48451941	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:48451941C>T	uc001zwi.4	-	5	710	c.586G>A	c.(586-588)Gga>Aga	p.G196R	MYEF2_uc001zwj.4_Missense_Mutation_p.G196R|MYEF2_uc001zwl.3_Missense_Mutation_p.G36R	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	Homo sapiens myelin expression factor 2 (MYEF2), mRNA.	196					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)		GGGACGTGTCCTCCTGGAAAT	0.433000														19			9		0	0	0.004482	0	0
LEP	3952	broad.mit.edu	37	7	127894587	127894587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:127894587G>A	uc003vml.2	+	2	332	c.275G>A	c.(274-276)aGa>aAa	p.R92K	LEP_uc003vmm.2_Missense_Mutation_p.R91K	NM_000230	NP_000221	P41159	LEP_HUMAN	Homo sapiens leptin (LEP), mRNA.	92					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						ATGCCTTCCAGAAACGTGATC	0.547000														108			34		0	0	0.004289	0	0
KIAA1804	84451	broad.mit.edu	37	1	233518443	233518443	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:233518443G>A	uc001hvt.4	+	9	3358	c.3097G>A	c.(3097-3099)Gaa>Aaa	p.E1033K	KIAA1804_uc001hvu.4_Missense_Mutation_p.E479K	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	1033					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)				ACTGGAGAAAGAATTCCTGTC	0.423000														19			26		0	0	0.003330	0	0
CPN2	1370	broad.mit.edu	37	3	194062955	194062955	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:194062955G>A	uc003fts.3	-	1	567	c.477C>T	c.(475-477)gcC>gcT	p.A159A	CPN2_uc021xix.1_Silent_p.A159A	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	159					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)		TCCTGGGCAGGGCCTGGAGCT	0.632000														25			31		0	0	0.008361	0	0
CCR2	729230	broad.mit.edu	37	3	46399689	46399689	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:46399689G>A	uc003cpn.4	+	1	1156	c.671G>A	c.(670-672)gGa>gAa	p.G224E	CCR2_uc003cpm.4_Missense_Mutation_p.G224E|CCR2_uc021wxa.1_Missense_Mutation_p.G224E	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	224					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)		TGCTACTCGGGAATCCTGAAA	0.473000														242			118		0	0	0.003610	0	0
DNAH7	56171	broad.mit.edu	37	2	196774856	196774856	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:196774856C>T	uc002utj.4	-	24	4100	c.3999G>A	c.(3997-3999)ggG>ggA	p.G1333G		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1333	AAA 1 (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						TTTCAGTCTTCCCAGTGCCAG	0.418000														28			12		0	0	0.001855	0	0
GLRA1	2741	broad.mit.edu	37	5	151234728	151234728	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:151234728C>T	uc003lut.3	-	5	857	c.570G>A	c.(568-570)acG>acA	p.T190T	GLRA1_uc003lur.3_Silent_p.T190T|GLRA1_uc003lus.3_Silent_p.T107T	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	190					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGTCATTCATCGTATATCCAA	0.483000														70			29		0	0	0.006320	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996502	140996503	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:140996502_140996503GG>AA	uc004fbt.3	+	3	3636_3637	c.3312_3313GG>AA	c.(3310-3315)aaggat>aaAAat	p.D1105N	MAGEC1_uc010nsl.2_Missense_Mutation_p.D172N|MAGEC1_uc022cfi.1_Missense_Mutation_p.D764N	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	1105	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)					CCTCTTACAAGGATGCTTTGAA	0.465000										HNSCC(15;0.026)				122			55		0	0	0.004672	0	0
abParts	0	broad.mit.edu	37	14	106237789	106237789	+	RNA	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:106237789G>A	uc001ysh.1	-	0		c.1325C>T			abParts_uc021ser.1_Splice_Site|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron|IGHG1_uc001yse.3_Intron|abParts_uc001ysi.1_Non-coding_Transcript					Homo sapiens mRNA for FLJ00385 protein.																		GACAGAGCTGGGCCCAGGGCG	0.672000														25			10		0	0	0.006214	0	0
KCNN2	3781	broad.mit.edu	37	5	113822788	113822788	+	Silent	SNP	A	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:113822788A>T	uc003kqo.3	+	5	1753	c.1296A>T	c.(1294-1296)ctA>ctT	p.L432L	KCNN2_uc003kqp.3_Silent_p.L84L|KCNN2_uc010jcg.3_Non-coding_Transcript|AK097686_uc003kqr.1_Intron	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.	432	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.L432Q(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		AAACATGGCTAATTTACAAAA	0.328000														37			23		0	0	0.002780	0	0
PSAT1	29968	broad.mit.edu	37	9	80919745	80919745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:80919745G>A	uc004ala.3	+	3	354	c.286G>A	c.(286-288)Gga>Aga	p.G96R	PSAT1_uc004alb.3_Missense_Mutation_p.G96R	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA.	96					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	CTTGAAAGCAGGAAGGTGTGC	0.498000														75			35		0	0	0.004289	0	0
SMC3	9126	broad.mit.edu	37	10	112364028	112364028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:112364028G>A	uc001kze.3	+	28	3748	c.3622G>A	c.(3622-3624)Gac>Aac	p.D1208N		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	1208					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)		GATGGCCAAAGACTTTGTAGA	0.333000														30			12		0	0	0.001855	0	0
KRT80	144501	broad.mit.edu	37	12	52567548	52567548	+	Splice_Site	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:52567548C>T	uc001rzw.3	-	3	823	c.772_splice	c.e3-1	p.E258_splice	KRT80_uc001rzy.3_Splice_Site_p.E223_splice|KRT80_uc001rzx.3_Splice_Site_p.E223_splice	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	223	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TCCTTCAGCTCCTGACCGGGC	0.647000														38			13		0	0	0.001855	0	0
ADH1C	126	broad.mit.edu	37	4	100261800	100261800	+	RNA	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:100261800G>A	uc021xqi.1	-	6		c.981C>T				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GAGGTTCTGGGAATCAGGAGG	0.448000														139			68		0	0	0.003610	0	0
FAM72A	729533	broad.mit.edu	37	1	206145485	206145485	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:206145485C>T	uc001hdr.4	+	2	656	c.262C>T	c.(262-264)Cca>Tca	p.P88S		NM_001123168	NP_001116640	Q5TYM5	FA72A_HUMAN	Homo sapiens family with sequence similarity 72, member A (FAM72A), mRNA.	88										endometrium(2)	2						TGTGATTGTTCCATGTAGTTC	0.373000														150			139		0	0	0.003610	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993458	140993458	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:140993458G>A	uc004fbt.3	+	3	592	c.268G>A	c.(268-270)Gac>Aac	p.D90N	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	90							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)					TCCTGAGGGCGACGACACCCA	0.582000										HNSCC(15;0.026)				121			45		0	0	0.003214	0	0
BTNL3	10917	broad.mit.edu	37	5	180432688	180432688	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:180432688G>A	uc003mmr.3	+	7	1401	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q	BTNL3_uc010jlp.3_Missense_Mutation_p.R191Q	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	406	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)			CCTCCTACACGAGTAGGGGTC	0.483000														71			23		0	0	0.002299	0	0
ZNF563	147837	broad.mit.edu	37	19	12430286	12430286	+	Nonsense_Mutation	SNP	G	A	A	rs150045277		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:12430286G>A	uc002mtp.3	-	3	791	c.553C>T	c.(553-555)Cga>Tga	p.R185*	ZNF563_uc002mtq.2_Nonsense_Mutation_p.R185*	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	Homo sapiens zinc finger protein 563 (ZNF563), mRNA.	185					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						ATGTGTCTTCGAAGGTTTCTA	0.418000														100			38		0	0	0.005524	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130381273	130381273	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:130381273C>T	uc003qbt.3	+	9	1028	c.852C>T	c.(850-852)ctC>ctT	p.L284L	L3MBTL3_uc003qbu.3_Silent_p.L259L	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA.	284					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		ACTGTGTCCTCACCGTCGCGG	0.383000														10			9		0	0	0.006214	0	0
AVPR1A	552	broad.mit.edu	37	12	63541150	63541150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:63541150C>T	uc001sro.1	-	1	3220	c.1246G>A	c.(1246-1248)Gtt>Att	p.V416I		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	416					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			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)	CAAGTTGAAACAGGAATGAAT	0.383000														48			18		0	0	0.008871	0	0
RNF133	168433	broad.mit.edu	37	7	122338180	122338180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:122338180G>A	uc003vkj.1	-	0	1029	c.793C>T	c.(793-795)Cct>Tct	p.P265S	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	Homo sapiens ring finger protein 133 (RNF133), mRNA.	265						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						ATGTCATTAGGCTTATAGCGT	0.403000														108			32		0	0	0.003271	0	0
ATP8B4	79895	broad.mit.edu	37	15	50209220	50209220	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:50209220G>A	uc001zxu.3	-	19	2194	c.2052C>T	c.(2050-2052)atC>atT	p.I684I	ATP8B4_uc010ber.3_Silent_p.I557I|ATP8B4_uc010ufd.2_Silent_p.I494I|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	684					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)		AGGCATAACCGATGTTGATGG	0.383000														59			20		0	0	0.010504	0	0
ELOVL3	83401	broad.mit.edu	37	10	103987394	103987395	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:103987394_103987395TC>AT	uc001kut.3	+	1	276_277	c.113_114TC>AT	c.(112-114)ttc>tAT	p.F38Y		NM_152310	NP_689523	Q9HB03	ELOV3_HUMAN	Homo sapiens ELOVL fatty acid elongase 3 (ELOVL3), mRNA.	38					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	p.S37*(1)		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)		GCAACCTCATTCCCCATAGCCC	0.559000														101			35		0	0	0.004672	0	0
TTC7B	145567	broad.mit.edu	37	14	91161911	91161911	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:91161911C>T	uc001xyp.3	-	5	832	c.710G>A	c.(709-711)aGa>aAa	p.R237K	BC039357_uc001xyr.1_5'Flank	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	Homo sapiens tetratricopeptide repeat domain 7B (TTC7B), mRNA.	237							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)				TCCGACTCCTCTTGTCAAGTT	0.398000														22			10		0	0	0.008291	0	0
C12orf63	374467	broad.mit.edu	37	12	97150267	97150267	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:97150267G>A	uc021rcc.1	+	23	3225	c.3147G>A	c.(3145-3147)gaG>gaA	p.E1049E				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	1049										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						TAATGGAAGAGAAATCTCCAA	0.308000														22			5		0	0	0.000602	0	0
LPCAT1	79888	broad.mit.edu	37	5	1494882	1494882	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:1494882G>A	uc003jcm.3	-	2	543	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA.	142					phospholipid biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TGGTCACAGGGATGGCGTCGA	0.657000														48			20		0	0	0.002780	0	0
SVEP1	79987	broad.mit.edu	37	9	113170129	113170129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:113170129G>A	uc010mtz.3	-	37	8088	c.7751C>T	c.(7750-7752)cCt>cTt	p.P2584L	SVEP1_uc010mty.3_Missense_Mutation_p.P510L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2584	Sushi 20.				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						CTGAAACCCAGGGAAGCAACT	0.488000														67			17		0	0	0.004990	0	0
KIF22	3835	broad.mit.edu	37	16	29816160	29816160	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:29816160C>T	uc002dts.3	+	11	1726	c.1703C>T	c.(1702-1704)cCt>cTt	p.P568L	BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Missense_Mutation_p.P500L|KIF22_uc010vdw.1_Missense_Mutation_p.P500L|KIF22_uc002frc.1_Non-coding_Transcript|MAZ_uc010vdx.2_5'Flank|MAZ_uc002dtx.3_5'Flank|MAZ_uc002dty.3_5'Flank|MAZ_uc002dtz.1_5'Flank	NM_007317	NP_015556	Q14807	KIF22_HUMAN	Homo sapiens kinesin family member 22 (KIF22), transcript variant 1, mRNA.	568					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						GCCCTAGAGCCTGAGGAGAAG	0.597000														12			6		0	0	0.001984	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110520061	110520061	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:110520061A>G	uc003yne.3	+	68	11268	c.11164A>G	c.(11164-11166)Aag>Gag	p.K3722E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3722					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)			CAGAATTCCTAAGGCGATGCT	0.433000										HNSCC(38;0.096)				58			29		0	0	0.009535	0	0
KCNK13	56659	broad.mit.edu	37	14	90651053	90651053	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:90651053G>A	uc001xye.1	+	1	1375	c.933G>A	c.(931-933)agG>agA	p.R311R		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	311						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)				GATCACGCAGGAACGTGGTGA	0.592000														60			35		0	0	0.003271	0	0
OR6C4	341418	broad.mit.edu	37	12	55945204	55945204	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:55945204C>T	uc010spp.2	+	0	194	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S65F(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CGGAATTTCTCCTTCTTAGAA	0.428000														89			47		0	0	0.003610	0	0
SBK1	388228	broad.mit.edu	37	16	28331844	28331844	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:28331844C>T	uc002dpd.3	+	3	1666	c.877C>T	c.(877-879)Cag>Tag	p.Q293*		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	293	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						GCGCATGTTCCAGCGCTTACT	0.726000														14			7		0	0	0.001984	0	0
SYNM	23336	broad.mit.edu	37	15	99670160	99670160	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:99670160C>T	uc002bup.3	+	4	1712	c.1592C>T	c.(1591-1593)tCc>tTc	p.S531F	SYNM_uc002buo.3_Missense_Mutation_p.S531F|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	532	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						GAGAAGGCTTCCGAGGAGAGA	0.443000														13			5		0	0	0.000602	0	0
TKTL2	84076	broad.mit.edu	37	4	164393468	164393468	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:164393468G>A	uc003iqp.4	-	0	1580	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	473						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGGTTCGAATGAAGCACATTC	0.453000														67			37		0	0	0.003755	0	0
TF	7018	broad.mit.edu	37	3	133478170	133478170	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:133478170C>T	uc003epu.2	+	13	2928	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	TF_uc011blt.2_Silent_p.I273I|TF_uc003epw.2_Intron|TF_uc003epv.2_Silent_p.I400I	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	400	Transferrin-like 2.				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)	TCGCCAAGATCATGGTATGTC	0.532000														55			47		0	0	0.003610	0	0
FER1L6	654463	broad.mit.edu	37	8	125083777	125083777	+	Missense_Mutation	SNP	G	A	A	rs139878625		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:125083777G>A	uc003yqw.3	+	30	4203	c.3997G>A	c.(3997-3999)Gat>Aat	p.D1333N	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1333						integral to membrane		p.D1333N(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)			AAGCCCCCAGGATTCTAGCTC	0.522000														42			19		0	0	0.008871	0	0
EPHA6	285220	broad.mit.edu	37	3	97311571	97311571	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:97311571G>A	uc010how.1	+	11	2545	c.2502G>A	c.(2500-2502)agG>agA	p.R834R	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Silent_p.R200R|EPHA6_uc003drs.4_Silent_p.R226R|EPHA6_uc003drr.4_Silent_p.R226R|EPHA6_uc003drt.3_Silent_p.R226R|EPHA6_uc010hox.1_Intron	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	739	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.T834S(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						TGCCCCCCAGGATTCCTGCTG	0.507000														35			6		0	0	0.001984	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144865923	144865923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:144865923G>A	uc021ouh.1	-	34	5959	c.5657C>T	c.(5656-5658)aCt>aTt	p.T1886I	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.T1886I|PDE4DIP_uc001elx.4_Missense_Mutation_p.T1780I|PDE4DIP_uc001elv.4_Missense_Mutation_p.T893I|PDE4DIP_uc001ema.3_Missense_Mutation_p.T73I	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1886					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.S1885S(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)		GAAGTTAGAAGTGGATCCTGT	0.463000			T	PDGFRB	MPD									342			85		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	106357613	106357613	+	Splice_Site	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:106357613C>T	uc021ser.1	-	3795		c.57349_splice	c.e3795-1		KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron					Parts of antibodies, mostly variable regions.																		ACCTCCTCGTCTGTTTGGGAG	0.592000														22			7		0	0	0.004482	0	0
MTM1	4534	broad.mit.edu	37	X	149839967	149839967	+	Missense_Mutation	SNP	C	T	T	rs143813478		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:149839967C>T	uc004fef.4	+	14	1787	c.1711C>T	c.(1711-1713)Ctt>Ttt	p.L571F	MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.L534F|MTM1_uc011mxz.2_Missense_Mutation_p.L456F|MTM1_uc010nte.3_Missense_Mutation_p.L439F	NM_000252	NP_000243	Q13496	MTM1_HUMAN	Homo sapiens myotubularin 1 (MTM1), mRNA.	571					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)					CATAAAGCGGCTTGAGGAACT	0.507000														64			28		0	0	0.006320	0	0
WDR16	146845	broad.mit.edu	37	17	9515667	9515667	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:9515667G>A	uc010coc.3	+	8	1155	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	WDR16_uc002gly.3_Missense_Mutation_p.R299Q|WDR16_uc002glz.3_Missense_Mutation_p.R231Q			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	299						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						ATCACACTTCGAGGAGAAGGA	0.428000														43			32		0	0	0.002445	0	0
SEMG2	6407	broad.mit.edu	37	20	43850574	43850574	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:43850574G>A	uc010ggz.3	+	1	358	c.301G>A	c.(301-303)Ggt>Agt	p.G101S	SEMG2_uc002xnk.3_Missense_Mutation_p.G101S|SEMG2_uc002xnl.3_Missense_Mutation_p.G101S	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	101	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ACAACACCTAGGTGGAAGTCA	0.373000														44			16		0	0	0.003163	0	0
TAOK2	9344	broad.mit.edu	37	16	29990326	29990326	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:29990326C>T	uc010bzm.2	+	4	419	c.384C>T	c.(382-384)atC>atT	p.I128I	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Silent_p.I128I|TAOK2_uc021tgf.1_Silent_p.I128I|TAOK2_uc002dva.2_Silent_p.I128I|TAOK2_uc002dvc.2_Silent_p.I128I|TAOK2_uc002dvd.2_5'Flank	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	128	Protein kinase.				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						AGGTAGAGATCGCAGCTGTGA	0.577000														93			27		0	0	0.008361	0	0
CCDC3	83643	broad.mit.edu	37	10	12940554	12940554	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:12940554C>T	uc001ilq.1	-	2	809	c.675G>A	c.(673-675)aaG>aaA	p.K225K	CCDC3_uc009xjb.1_Non-coding_Transcript|CCDC3_uc001ilr.2_Non-coding_Transcript|CCDC3_uc009xjc.1_Non-coding_Transcript|CCDC3_uc021pna.1_Non-coding_Transcript	NM_031455	NP_113643	Q9BQI4	CCDC3_HUMAN	Homo sapiens coiled-coil domain containing 3 (CCDC3), mRNA.	225						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			GCAAGGACCTCTTGACCTTCT	0.622000														91			22		0	0	0.009535	0	0
ALOX5AP	241	broad.mit.edu	37	13	31338126	31338126	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:31338126C>T	uc010tdr.2	+	5	788	c.540C>T	c.(538-540)ttC>ttT	p.F180F	ALOX5AP_uc001utf.2_Silent_p.F123F	NM_001204406	NP_001191335	P20292	AL5AP_HUMAN	Homo sapiens arachidonate 5-lipoxygenase-activating protein (ALOX5AP), transcript variant 2, mRNA.	123					cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		TCTTCCTGTTCCTCATGTCCG	0.433000														118			51		0	0	0.003610	0	0
EMR1	2015	broad.mit.edu	37	19	6937282	6937282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:6937282C>T	uc002mfw.3	+	18	2448	c.2410C>T	c.(2410-2412)Ctc>Ttc	p.L804F	EMR1_uc010dvc.3_Missense_Mutation_p.L739F|EMR1_uc010dvb.3_Missense_Mutation_p.L785F|EMR1_uc010xji.2_Missense_Mutation_p.L663F|EMR1_uc010xjj.2_Missense_Mutation_p.L627F	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	804					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			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)					CTTTGCCCAGCTCTTCATCCT	0.547000														70			36		0	0	0.007835	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439501	150439501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:150439501G>A	uc022apw.1	+	5	1026	c.886G>A	c.(886-888)Gat>Aat	p.D296N	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.D92N	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		GTCACAGGCCGATACCCAAGA	0.597000														89			21		0	0	0.001882	0	0
SEMA4C	54910	broad.mit.edu	37	2	97526700	97526701	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:97526700_97526701GG>AA	uc002sxg.4	-	12	2554_2555	c.2323_2324CC>TT	c.(2323-2325)ccc>TTc	p.P775F	ANKRD39_uc002sxd.4_5'Flank|SEMA4C_uc002sxf.4_Missense_Mutation_p.P222F|SEMA4C_uc002sxe.3_Missense_Mutation_p.P263F|SEMA4C_uc002sxh.4_Missense_Mutation_p.P722F	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.	722					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			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						TTCAGGACAGGGCCGGAAGGGG	0.604000														29			14		0	0	0.004672	0	0
THSD7B	80731	broad.mit.edu	37	2	138169219	138169219	+	Silent	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:138169219T>C	uc002tva.1	+	12	2643	c.2643T>C	c.(2641-2643)ctT>ctC	p.L881L	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.L771L	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)		ATTCTGACCTTTACCCTCTAG	0.403000														47			24		0	0	0.003330	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260436	44260436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:44260436G>A	uc010xcy.1	-	7	1376	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	ST8SIA5_uc002lci.1_Missense_Mutation_p.R81C|ST8SIA5_uc002lcj.1_Missense_Mutation_p.R234C|ST8SIA5_uc010xcz.1_Missense_Mutation_p.R203C	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	234					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						TGCAGCACGCGATAGAACGGC	0.637000														3			5		0	0	0.000602	0	0
CACNG3	10368	broad.mit.edu	37	16	24372881	24372881	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:24372881C>T	uc002dmf.3	+	3	1847	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	215					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 complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ACTCGGAGTTCCTGAAGAAAT	0.522000														49			16		0	0	0.004007	0	0
ANKIB1	54467	broad.mit.edu	37	7	91972374	91972374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:91972374C>T	uc003ulw.2	+	5	1200	c.824C>T	c.(823-825)tCc>tTc	p.S275F		NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	Homo sapiens ankyrin repeat and IBR domain containing 1 (ANKIB1), mRNA.	275							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)			GCTTGGATGTCCAACCCGGAG	0.433000														58			32		0	0	0.003755	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960926	73960926	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:73960926G>A	uc004eby.3	-	2	4083	c.3466C>T	c.(3466-3468)Ctg>Ttg	p.L1156L		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1156					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	p.C1155W(1)		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						AATGTTGACAGGCAAGGGTTT	0.393000														75			25		0	0	0.008361	0	0
ADD3	120	broad.mit.edu	37	10	111879043	111879043	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:111879043C>T	uc001kyu.3	+	6	948	c.792C>T	c.(790-792)gaC>gaT	p.D264D	ADD3_uc001kyt.4_Silent_p.D264D|ADD3_uc001kys.4_Silent_p.D264D|ADD3_uc001kyv.3_Silent_p.D264D|ADD3_uc001kyw.3_Silent_p.D264D	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	Homo sapiens adducin 3 (gamma) (ADD3), transcript variant 1, mRNA.	264						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)		CCTATTATGACTACCAAGGGT	0.428000														51			17		0	0	0.004007	0	0
PREPL	9581	broad.mit.edu	37	2	44573430	44573430	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:44573430C>T	uc002ruf.3	-	1	1278	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	PREPL_uc002rug.3_Missense_Mutation_p.E107K|PREPL_uc002ruh.3_Missense_Mutation_p.E107K|PREPL_uc010fax.3_Missense_Mutation_p.E107K|PREPL_uc002rui.4_Missense_Mutation_p.E18K|PREPL_uc002ruj.2_Missense_Mutation_p.E18K|PREPL_uc002ruk.2_Missense_Mutation_p.E107K	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	107					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ATTTCATATTCTTCTTGTGGC	0.318000														32			12		0	0	0.001368	0	0
OR5K1	26339	broad.mit.edu	37	3	98189280	98189280	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:98189280C>T	uc003dsm.3	+	0	860	c.860C>T	c.(859-861)cCt>cTt	p.P287L		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	287					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						TTACTAAATCCTTTCATTTAT	0.318000														35			31		0	0	0.002836	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823280	38823280	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:38823280G>A	uc003avs.1	-	1	955	c.858C>T	c.(856-858)atC>atT	p.I286I	KCNJ4_uc003avt.1_Silent_p.I286I|KCNJ4_uc021wpp.1_Silent_p.I286I	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	286					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)					GGATGACCACGATCTCAAAGT	0.622000														30			15		0	0	0.002450	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338968	13338968	+	RNA	SNP	G	A	A	rs61751720	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:13338968G>A	uc003gms.3	+	0		c.3932G>A								Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene (HSP90AB2P), non-coding RNA.											kidney(3)|lung(1)	4						AGCCTATTTGGACCAGAAACA	0.408000														18			10		0	0	0.008291	0	0
SH3TC1	54436	broad.mit.edu	37	4	8239372	8239372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:8239372G>A	uc003gkv.4	+	16	3829	c.3728G>A	c.(3727-3729)gGt>gAt	p.G1243D	SH3TC1_uc003gkw.4_Missense_Mutation_p.G1167D|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	1243							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						CTGGTGCTCGGTGACATCATC	0.617000														26			9		0	0	0.000978	0	0
IRF5	3663	broad.mit.edu	37	7	128588335	128588335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:128588335G>A	uc003voh.3	+	7	1325	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	IRF5_uc003vog.3_Missense_Mutation_p.E418K|IRF5_uc010llt.3_Missense_Mutation_p.E316K|IRF5_uc003voi.3_Missense_Mutation_p.E402K|IRF5_uc003voj.4_Missense_Mutation_p.E402K	NM_001098630	NP_116032	Q13568	IRF5_HUMAN	Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 6, mRNA.	402					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						CTTTGGGGAAGAATGGCCTGA	0.517000														112			35		0	0	0.003755	0	0
NXF3	56000	broad.mit.edu	37	X	102338549	102338549	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:102338549G>A	uc004eju.3	-	3	494	c.423C>T	c.(421-423)ttC>ttT	p.F141F	NXF3_uc010noi.1_5'UTR|NXF3_uc011mrw.1_Silent_p.F141F|NXF3_uc011mrx.1_Silent_p.F52F	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	141	RRM.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.P140T(1)		NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CAACTGGGACGAAGGGTACAC	0.458000														88			42		0	0	0.002852	0	0
OASL	8638	broad.mit.edu	37	12	121458471	121458471	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:121458471C>T	uc001tzj.1	-	5	1444	c.1438G>A	c.(1438-1440)Ggc>Agc	p.G480S	OASL_uc001tzk.1_3'UTR	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	480	Ubiquitin-like 2.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGACTTGGCCTTGGAATTCC	0.537000														267			109		0	0	0.003610	0	0
PIF1	80119	broad.mit.edu	37	15	65112122	65112122	+	Silent	SNP	C	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:65112122C>A	uc002ant.2	-	7	1323	c.1257G>T	c.(1255-1257)ggG>ggT	p.G419G	PIF1_uc002anr.2_5'UTR|PIF1_uc002ans.2_Silent_p.G110G|PIF1_uc010uiq.1_Silent_p.G419G	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	419	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						TGGCCACAATCCCATCTCGCC	0.652000														47			27		3.73148e-12	3.80171e-12	0.007291	1	0
FGFR1	2260	broad.mit.edu	37	8	38314906	38314906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:38314906G>A	uc022aua.1	-	1	1001	c.59C>T	c.(58-60)aCc>aTc	p.T20I	FGFR1_uc011lbu.2_Missense_Mutation_p.T53I|FGFR1_uc011lbv.2_Missense_Mutation_p.T20I|FGFR1_uc011lbw.2_Missense_Mutation_p.T20I|FGFR1_uc003xlp.3_Missense_Mutation_p.T20I|FGFR1_uc022aub.1_Missense_Mutation_p.T20I|FGFR1_uc022auc.1_Missense_Mutation_p.T20I|FGFR1_uc022aud.1_Missense_Mutation_p.T20I|FGFR1_uc010lwk.3_5'UTR|FGFR1_uc011lbs.2_5'UTR|FGFR1_uc011lbt.1_Missense_Mutation_p.T20I|FGFR1_uc011lbx.1_Missense_Mutation_p.T20I|FGFR1_uc003xlv.3_Missense_Mutation_p.T20I|FGFR1_uc003xlu.3_Missense_Mutation_p.T20I|FGFR1_uc003xlw.1_Non-coding_Transcript	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	20					MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	p.T20T(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CGGCCTAGCGGTGCAGAGTGT	0.617000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""							36			12		0	0	0.001855	0	0
AUTS2	26053	broad.mit.edu	37	7	70255637	70255637	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:70255637G>A	uc003tvw.4	+	18	4170	c.3435G>A	c.(3433-3435)cgG>cgA	p.R1145R	AUTS2_uc003tvx.4_Silent_p.R1121R|AUTS2_uc011keg.2_Silent_p.R597R	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	1145	His-rich.									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)		AGCACGAGCGGGGAGGCCACC	0.692000														12			10		0	0	0.006214	0	0
FAM47C	442444	broad.mit.edu	37	X	37028054	37028054	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:37028054C>A	uc004ddl.2	+	0	1623	c.1571C>A	c.(1570-1572)cCa>cAa	p.P524Q		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	524								p.R523H(1)		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						CATCTCCGCCCAGAGCCTCCC	0.607000														113			43		1.57945e-13	1.61386e-13	0.002852	1	0
GTF2H3	2967	broad.mit.edu	37	12	124139515	124139515	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:124139515C>T	uc001ufo.1	+	7	557	c.531C>T	c.(529-531)ttC>ttT	p.F177F	GTF2H3_uc010tau.1_Silent_p.F136F	NM_001516	NP_001507	Q13889	TF2H3_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 3, 34kDa (GTF2H3), mRNA.	177					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	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		ATATGAACTTCATGAATGTCA	0.413000								Nucleotide excision repair (NER)						32			10		0	0	0.001855	0	0
C1orf177	163747	broad.mit.edu	37	1	55272741	55272741	+	Silent	SNP	T	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:55272741T>G	uc001cyb.4	+	1	231	c.177T>G	c.(175-177)cgT>cgG	p.R59R	C1orf177_uc001cya.4_Silent_p.R59R	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	59								p.R59C(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ACTCCACGCGTTATTCTACCC	0.572000														91			63		0	0	0.003610	0	0
PRUNE2	158471	broad.mit.edu	37	9	79438604	79438604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:79438604C>T	uc010mpk.3	-	5	824	c.700G>A	c.(700-702)Gag>Aag	p.E234K	PRUNE2_uc022bih.1_Missense_Mutation_p.E56K|PRUNE2_uc004akn.3_Missense_Mutation_p.E234K	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	234					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTGACAGCTCCTTTAGATCT	0.348000														51			11		0	0	0.000978	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807289	15807289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:15807289C>T	uc002nbl.3	+	11	1483	c.1364C>T	c.(1363-1365)cCt>cTt	p.P455L		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.									p.S454P(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)					GGGAGGTCACCTCTGGCTTTT	0.557000														103			48		0	0	0.003610	0	0
C12orf63	374467	broad.mit.edu	37	12	97147538	97147538	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:97147538C>G	uc021rcc.1	+	22	3055	c.2977C>G	c.(2977-2979)Caa>Gaa	p.Q993E				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	993										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						AGTGGCCAAGCAAGTATATTA	0.428000														56			12		0	0	0.001855	0	0
PCDH18	54510	broad.mit.edu	37	4	138452127	138452127	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:138452127C>T	uc003ihe.4	-	0	1503	c.1116G>A	c.(1114-1116)ggG>ggA	p.G372G	PCDH18_uc003ihf.4_Silent_p.G365G|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.G152G|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	372	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)					CAATAGGATCCCCTTCAAAAA	0.348000														32			17		0	0	0.004990	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130656950	130656950	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:130656950G>A	uc004bsp.1	-	3	257	c.138C>T	c.(136-138)ttC>ttT	p.F46F	ST6GALNAC6_uc004bsn.1_Silent_p.F12F|ST6GALNAC6_uc011man.1_5'UTR|ST6GALNAC6_uc004bso.1_Silent_p.F46F|ST6GALNAC6_uc004bsq.1_Silent_p.F12F|ST6GALNAC6_uc004bsr.2_Silent_p.F12F|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.	46					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						AGAGGATCACGAACACTGCTG	0.632000														69			32		0	0	0.002096	0	0
TRIM26	7726	broad.mit.edu	37	6	30166566	30166566	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:30166566G>A	uc003npr.3	-	2	524	c.315C>T	c.(313-315)caC>caT	p.H105H	TRIM26_uc003nps.3_Silent_p.H105H|TRIM26_uc003npt.3_Silent_p.H105H|TRIM26_uc010jry.3_5'UTR|TRIM26_uc003npu.1_Silent_p.H105H	NM_003449	NP_003440	Q12899	TRI26_HUMAN	Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA.	105							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						GCTTCTCTCGGTGTCGCTCGC	0.642000														56			28		0	0	0.008361	0	0
HMGB4	127540	broad.mit.edu	37	1	34330328	34330328	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:34330328G>A	uc021oky.1	+	0	536	c.536G>A	c.(535-537)aGa>aAa	p.R179K	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Missense_Mutation_p.R179K|HMGB4_uc001bxq.3_Missense_Mutation_p.R105K	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.	179						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AACCGGTGCAGAGGGAAAAGA	0.453000														33			13		0	0	0.001855	0	0
FRMPD4	9758	broad.mit.edu	37	X	12708397	12708397	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:12708397G>A	uc004cuz.2	+	7	1271	c.765G>A	c.(763-765)ggG>ggA	p.G255G	FRMPD4_uc011mij.2_Silent_p.G247G	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	255	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GGACAGAAGGGGCTGGAACGA	0.483000														89			40		0	0	0.006999	0	0
EWSR1	2130	broad.mit.edu	37	22	29684726	29684726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:29684726C>T	uc003aet.3	+	7	1253	c.925C>T	c.(925-927)Cgt>Tgt	p.R309C	EWSR1_uc003aes.4_Missense_Mutation_p.R309C|EWSR1_uc003aev.3_Missense_Mutation_p.R315C|EWSR1_uc003aex.3_Missense_Mutation_p.R309C|EWSR1_uc003aew.3_Missense_Mutation_p.R253C|EWSR1_uc003aey.3_Missense_Mutation_p.R104C|EWSR1_uc003aez.3_5'Flank	NM_005243	NP_005234	Q01844	EWS_HUMAN	Homo sapiens Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 2, mRNA.	309	Arg/Gly/Pro-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						GGGATTTGATCGTGGAGGCAT	0.547000			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"""									19			8		0	0	0.003080	0	0
NTRK1	4914	broad.mit.edu	37	1	156845906	156845906	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:156845906C>T	uc001fqh.1	+	12	1592	c.1536C>T	c.(1534-1536)ctC>ctT	p.L512L	NTRK1_uc001fqf.1_Silent_p.L476L|NTRK1_uc009wsi.1_Silent_p.L211L|NTRK1_uc001fqi.1_Silent_p.L506L|NTRK1_uc009wsk.1_Silent_p.L509L	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	512	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)	ACATCGTGCTCAAGTGGGAGC	0.622000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				81			119		0	0	0.003610	0	0
CCDC40	55036	broad.mit.edu	37	17	78022533	78022533	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:78022533C>T	uc010dht.3	+	4	859	c.828C>T	c.(826-828)tcC>tcT	p.S276S	CCDC40_uc010wub.2_Silent_p.S276S|CCDC40_uc021uem.1_Silent_p.S276S|CCDC40_uc002jxm.4_Silent_p.S59S	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	276					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)			ACGAAGGGTCCCAGCTGGTGG	0.592000														10			10		0	0	0.006214	0	0
MIR519D	574480	broad.mit.edu	37	19	54216635	54216635	+	RNA	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:54216635C>T	uc021vaf.1	+	0		c.35C>T								Homo sapiens microRNA 519d (MIR519D), microRNA.																		GAAGCGCTTTCTGTTTGTTTT	0.438000														58			27		0	0	0.007291	0	0
GABRE	2564	broad.mit.edu	37	X	151138774	151138774	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:151138774C>T	uc004ffi.3	-	1	211	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	53					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)					GACTTTGTTTCCTCAGAGAGG	0.507000														135			63		0	0	0.003610	0	0
HUWE1	10075	broad.mit.edu	37	X	53564554	53564554	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:53564554G>A	uc004dsp.3	-	77	12502	c.12100C>T	c.(12100-12102)Ctg>Ttg	p.L4034L	HUWE1_uc004dsn.3_Silent_p.L2842L|HUWE1_uc004dsq.1_Silent_p.L334L	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	4034					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						TTGCGATGCAGCTCACGATAG	0.547000														34			6		0	0	0.001168	0	0
CDH17	1015	broad.mit.edu	37	8	95177987	95177987	+	Splice_Site	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:95177987A>G	uc003ygh.2	-	10	1407	c.1282_splice	c.e10+1	p.D428_splice	CDH17_uc011lgo.1_Splice_Site_p.D214_splice|CDH17_uc011lgp.1_Splice_Site_p.D428_splice	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	428	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)			TATGATACTAACCTTTGTCAG	0.383000														28			15		0	0	0.003163	0	0
MMD	23531	broad.mit.edu	37	17	53481219	53481219	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:53481219G>A	uc002iui.3	-	4	640	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C		NM_012329	NP_036461	Q15546	PAQRB_HUMAN	Homo sapiens monocyte to macrophage differentiation-associated (MMD), mRNA.	119					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CCAAGTTCACGAAGATTTAAC	0.383000														55			21		0	0	0.001882	0	0
NEDD4L	23327	broad.mit.edu	37	18	55992244	55992244	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:55992244T>A	uc002lgy.3	+	8	813	c.530T>A	c.(529-531)gTt>gAt	p.V177D	NEDD4L_uc002lgz.3_Missense_Mutation_p.V177D|NEDD4L_uc002lgx.3_Missense_Mutation_p.V177D|NEDD4L_uc010xee.1_Missense_Mutation_p.V56D|NEDD4L_uc002lhc.2_Missense_Mutation_p.V169D|NEDD4L_uc002lhd.2_Missense_Mutation_p.V56D|NEDD4L_uc002lhb.2_Missense_Mutation_p.V56D|NEDD4L_uc002lhe.2_Missense_Mutation_p.V169D|NEDD4L_uc002lhf.3_Missense_Mutation_p.V56D|NEDD4L_uc002lhg.3_Missense_Mutation_p.V56D|NEDD4L_uc002lhh.2_Missense_Mutation_p.V56D|NEDD4L_uc010dpm.1_Missense_Mutation_p.V28D	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	177					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						TGGGAAGTTGTTGACTCAAAT	0.507000														146			67		0	0	0.003610	0	0
GK	2710	broad.mit.edu	37	4	166200720	166200720	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:166200720C>T	uc003ird.3	-	0	456	c.78G>A	c.(76-78)ttG>ttA	p.L26L	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.	26					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						AATTGAAAACCAAAAAGCGCG	0.498000														31			15		0	0	0.004007	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150416147	150416147	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:150416147G>A	uc003whq.3	+	1	152	c.12G>A	c.(10-12)agG>agA	p.R4R	GIMAP1-GIMAP5_uc022apw.1_Silent_p.R4R	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		TGGGAGGAAGGAAGATGGCGA	0.413000														49			16		0	0	0.004007	0	0
DCC	1630	broad.mit.edu	37	18	51053115	51053115	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:51053115G>A	uc002lfe.2	+	27	4856	c.4240G>A	c.(4240-4242)Gag>Aag	p.E1414K	DCC_uc010dpf.2_Missense_Mutation_p.E1047K	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1414					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)		CAAACCAACAGAGGATTCAGC	0.483000														51			14		0	0	0.002450	0	0
KIAA1804	84451	broad.mit.edu	37	1	233489572	233489572	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:233489572G>A	uc001hvt.4	+	2	1267	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K	KIAA1804_uc001hvs.1_Missense_Mutation_p.E336K	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	336	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	p.E336K(2)		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)				GCTGCTGTGGGAACTGCTCAC	0.488000														47			57		0	0	0.003610	0	0
COL15A1	1306	broad.mit.edu	37	9	101798462	101798462	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:101798462G>A	uc004azb.1	+	19	2506	c.2300G>A	c.(2299-2301)gGa>gAa	p.G767E		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	767	Triple-helical region 3 (COL3).				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)				GGTCTCAAAGGAGAGAAAGGA	0.493000														54			17		0	0	0.004007	0	0
ATP1B4	23439	broad.mit.edu	37	X	119500515	119500515	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:119500515G>A	uc004esr.3	+	1	283	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	ATP1B4_uc004esq.3_Missense_Mutation_p.E67K|ATP1B4_uc011mtx.2_Missense_Mutation_p.E67K|ATP1B4_uc011mty.2_Missense_Mutation_p.E67K	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 4 polypeptide (ATP1B4), transcript variant 1, mRNA.	67	Glu-rich.				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						ggaagaggaggaaaaggagga	0.527000														35			13		0	0	0.001368	0	0
SLC10A2	6555	broad.mit.edu	37	13	103703705	103703705	+	Silent	SNP	G	A	A	rs140751551		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:103703705G>A	uc001vpy.4	-	3	1260	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	221					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.I221I(2)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGGGAGCAATGATCCAGGCGC	0.478000														46			21		0	0	0.002299	0	0
ZNF530	348327	broad.mit.edu	37	19	58117086	58117086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:58117086C>T	uc002qpk.2	+	2	413	c.193C>T	c.(193-195)Cct>Tct	p.P65S	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.	65	KRAB.				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)		TGAGGGGACGCCTTCTGCAGA	0.468000														60			14		0	0	0.001855	0	0
MIR216A	406998	broad.mit.edu	37	2	56216086	56216086	+	Splice_Site	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:56216086C>T	uc010ype.1	-	1		c.110_splice	c.e1+1		BC043355_uc002rzk.3_Intron|CCDC85A_uc021vhw.1_Intron					Homo sapiens microRNA 216a (MIR216A), microRNA.																		TCTTTTGATTCGTGAGGGCTA	0.423000														105			39		0	0	0.003610	0	0
FAM123B	139285	broad.mit.edu	37	X	63412488	63412488	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:63412488C>T	uc022byb.1	-	0	679	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	FAM123B_uc004dvo.3_Missense_Mutation_p.E227K	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	227					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						TTAGCATTTTCCTTTCTAGGG	0.552000														78			36		0	0	0.005524	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29883583	29883583	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:29883583G>A	uc010vec.2	-	16	2912	c.2667C>T	c.(2665-2667)ttC>ttT	p.F889F	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Silent_p.F819F|SEZ6L2_uc002dur.4_Silent_p.F806F|SEZ6L2_uc002duq.4_Silent_p.F876F|SEZ6L2_uc010ved.2_Silent_p.F845F|SEZ6L2_uc002dus.4_Silent_p.F775F	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	876						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						CCGAGAAGCCGAAAAGGGACT	0.602000														34			22		0	0	0.002299	0	0
DOCK10	55619	broad.mit.edu	37	2	225681370	225681370	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:225681370G>A	uc010fwz.1	-	29	3567	c.3328C>T	c.(3328-3330)Cct>Tct	p.P1110S	DOCK10_uc002vob.2_Missense_Mutation_p.P1104S|DOCK10_uc002voc.2_5'UTR	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1110							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)		AGACACAAAGGGATAAAGTGT	0.363000														14			6		0	0	0.001168	0	0
SCN9A	6335	broad.mit.edu	37	2	167056272	167056272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:167056272C>T	uc010fpl.3	-	26	5185	c.4844G>A	c.(4843-4845)gGa>gAa	p.G1615E	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1626						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)	CCCCTTTGCTCCTTTGACTAG	0.498000														101			45		0	0	0.002852	0	0
UNC13C	440279	broad.mit.edu	37	15	54916041	54916041	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:54916041C>T	uc021smr.1	+	29	6242	c.6242C>T	c.(6241-6243)cCc>cTc	p.P2081L	UNC13C_uc021sms.1_Missense_Mutation_p.P2083L|UNC13C_uc002acm.3_Missense_Mutation_p.P4L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	2083	C2 2.				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)		ATGTTCCGCCCCTTTGTGGAA	0.383000														26			11		0	0	0.000978	0	0
POM121L12	285877	broad.mit.edu	37	7	53103886	53103886	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:53103886C>T	uc003tpz.3	+	0	538	c.522C>T	c.(520-522)acC>acT	p.T174T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	174										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACCCCTGCACCCGGGAGACTC	0.716000														27			11		0	0	0.000978	0	0
ZNF238	10472	broad.mit.edu	37	1	244217611	244217611	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:244217611C>T	uc001iad.4	+	1	708	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	ZNF238_uc001iae.3_Silent_p.L170L|ZNF238_uc001iaf.1_Silent_p.L170L	NM_205768	NP_006343	Q99592	ZN238_HUMAN	Homo sapiens zinc finger protein 238 (ZNF238), transcript variant 1, mRNA.	170				KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHAT AAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSS LSGVENLNSSYFSSQ -> IEHPAQQKGLGGRAWEHVDAIA LRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE (in Ref. 1; AAA81368).	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	p.E179V(1)|p.E179*(1)		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)			ATTGAACATCCTGCCCAGCAA	0.562000														90			15		0	0	0.007413	0	0
BMP1	649	broad.mit.edu	37	8	22037291	22037291	+	Missense_Mutation	SNP	C	T	T	rs73670368	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:22037291C>T	uc003xbg.3	+	6	1176	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	BMP1_uc003xbf.3_Missense_Mutation_p.R53W|BMP1_uc003xbb.3_Missense_Mutation_p.R304W|BMP1_uc003xbc.3_Missense_Mutation_p.R53W|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Missense_Mutation_p.R53W|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.	304	Metalloprotease.				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	p.R304R(1)		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)		CCAAAGGACACGGCTCAGCAA	0.582000														39			11		0	0	0.000978	0	0
SPAG11B	10407	broad.mit.edu	37	8	7308311	7308311	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:7308311C>T	uc003wrl.3	-	2	493	c.326G>A	c.(325-327)tGg>tAg	p.W109*	SPAG11B_uc003wrg.1_Intron|SPAG11B_uc003wrh.1_Intron|SPAG11B_uc003wri.3_3'UTR|SPAG11B_uc003wrj.3_Nonsense_Mutation_p.W56*|SPAG11B_uc003wrk.3_3'UTR	NM_058201	NP_478108	Q08648	SG11B_HUMAN	Homo sapiens sperm associated antigen 11B (SPAG11B), transcript variant D, mRNA.	0					spermatogenesis	extracellular region				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		ACACCTATTCCAGGGATCAGA	0.448000														72			5		0	0	0.000602	0	0
ROCK2	9475	broad.mit.edu	37	2	11389844	11389844	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:11389844G>A	uc002rbd.1	-	3	854	c.405C>T	c.(403-405)gcC>gcT	p.A135A		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	135	Protein kinase.				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)		CCCAAAAAAAGGCAGAATCTG	0.353000														79			32		0	0	0.002445	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226757	23226757	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:23226757G>A	uc002dlm.1	+	12	2056	c.1917G>A	c.(1915-1917)caG>caA	p.Q639Q		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	639					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)	TTTCCAACCAGCTCACAGATA	0.572000														56			22		0	0	0.001882	0	0
ABAT	18	broad.mit.edu	37	16	8866690	8866690	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:8866690C>T	uc002czc.4	+	11	1036	c.870C>T	c.(868-870)atC>atT	p.I290I	ABAT_uc002czd.4_Silent_p.I290I|ABAT_uc010buh.3_Silent_p.I232I|ABAT_uc010bui.3_Silent_p.I290I	NM_020686	NP_065737	P80404	GABT_HUMAN	Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	290					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)	TGGCCGGGATCATCGTGGAGC	0.557000														41			17		0	0	0.004007	0	0
ALX4	60529	broad.mit.edu	37	11	44331188	44331189	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:44331188_44331189CC>TT	uc001myb.3	-	0	528_529	c.424_425GG>AA	c.(424-426)ggc>AAc	p.G142N		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	Homo sapiens ALX homeobox 4 (ALX4), mRNA.	142					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GCCGCTGCTGCCTTCCTGGAGT	0.693000														6			9		0	0	0.004672	0	0
KIF4B	285643	broad.mit.edu	37	5	154395498	154395498	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:154395498C>T	uc010jih.1	+	0	2239	c.2079C>T	c.(2077-2079)ttC>ttT	p.F693F		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	693	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)			AAAGAAACTTCCAGAAACAAT	0.433000														70			21		0	0	0.002780	0	0
RASSF5	83593	broad.mit.edu	37	1	206711563	206711563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:206711563G>A	uc001hed.3	+	1	577	c.520G>A	c.(520-522)Gag>Aag	p.E174K	RASSF5_uc001hec.1_Missense_Mutation_p.E174K|RASSF5_uc001hee.3_Missense_Mutation_p.E174K	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 5 (RASSF5), transcript variant 1, mRNA.	174					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding	p.E174Q(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CAGTCAGCAGGAGGGTTTATC	0.547000														229			39		0	0	0.006999	0	0
THSD7B	80731	broad.mit.edu	37	2	138163337	138163337	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:138163337G>A	uc002tva.1	+	11	2562	c.2562G>A	c.(2560-2562)acG>acA	p.T854T	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.T744T	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)		CCTGCTCCACGAACTGTGAAG	0.498000														12			6		0	0	0.003080	0	0
SMARCA4	6597	broad.mit.edu	37	19	11123651	11123651	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:11123651C>T	uc010dxp.3	+	16	2661	c.2301C>T	c.(2299-2301)tcC>tcT	p.S767S	SMARCA4_uc010dxo.3_Silent_p.S767S|SMARCA4_uc002mqf.4_Silent_p.S767S|SMARCA4_uc002mqg.1_Silent_p.S767S|SMARCA4_uc010dxq.3_Silent_p.S767S|SMARCA4_uc010dxr.3_Silent_p.S767S|SMARCA4_uc002mqj.4_Silent_p.S767S|SMARCA4_uc010dxs.3_Silent_p.S767S|SMARCA4_uc010dxt.1_5'UTR	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.	767	Helicase ATP-binding.				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.S767F(1)|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)				GGCTGGTGTCCCTGTACAACA	0.592000			"""F, N, Mis"""		NSCLC									38			20		0	0	0.001882	0	0
BZRAP1	9256	broad.mit.edu	37	17	56389042	56389042	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:56389042G>A	uc002ivx.4	-	17	3842	c.2971C>T	c.(2971-2973)Ccc>Tcc	p.P991S	BZRAP1_uc010dcs.3_Missense_Mutation_p.P931S|BZRAP1_uc010wnt.2_Missense_Mutation_p.P991S	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	991	Fibronectin type-III 3.					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)					CCAGGGGAGGGCCCAGGCTCG	0.617000														27			13		0	0	0.001855	0	0
RNF213	57674	broad.mit.edu	37	17	78362453	78362453	+	Silent	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:78362453A>G	uc002jyh.2	+	64	15254	c.15111A>G	c.(15109-15111)gaA>gaG	p.E5037E	RNF213_uc021uen.1_Silent_p.E4988E|LOC100294362_uc002jyi.2_Intron|RNF213_uc010dhx.2_5'UTR	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	1145										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)			GGAACTATGAACATCTCTTTA	0.433000														153			77		0	0	0.003610	0	0
AGAP1	116987	broad.mit.edu	37	2	236957847	236957847	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:236957847C>T	uc002vvs.3	+	15	2634	c.2036C>T	c.(2035-2037)tCc>tTc	p.S679F	AGAP1_uc002vvt.3_Missense_Mutation_p.S626F	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	679	Arf-GAP.				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						GTGATGTCATCCATCGGGAAC	0.567000														72			29		0	0	0.006320	0	0
FRMD7	90167	broad.mit.edu	37	X	131216439	131216439	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:131216439G>A	uc004ewn.3	-	8	1035	c.857C>T	c.(856-858)tCa>tTa	p.S286L	FRMD7_uc022cdy.1_Missense_Mutation_p.S166L|FRMD7_uc011muy.2_Missense_Mutation_p.S271L	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	286					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)					TTTGGGCTTTGATTTGGGCTC	0.468000														295			133		0	0	0.003610	0	0
PHKB	5257	broad.mit.edu	37	16	47621611	47621611	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:47621611C>T	uc002eev.4	+	8	859	c.807C>T	c.(805-807)ctC>ctT	p.L269L	PHKB_uc002eeu.4_Silent_p.L262L	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	269					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)				TTGTGGATCTCGATGCTCACA	0.358000														41			12		0	0	0.001855	0	0
BCOR	54880	broad.mit.edu	37	X	39932229	39932229	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:39932229G>A	uc004den.4	-	3	2662	c.2370C>T	c.(2368-2370)aaC>aaT	p.N790N	BCOR_uc004dep.4_Silent_p.N790N|BCOR_uc004deo.4_Silent_p.N790N|BCOR_uc004dem.4_Silent_p.N790N|BCOR_uc004deq.4_Silent_p.N790N	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	790					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			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						CTTGATTCCAGTTGGGGTTCG	0.483000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							208			84		0	0	0.003610	0	0
SNX20	124460	broad.mit.edu	37	16	50707821	50707821	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:50707821G>A	uc002egk.2	-	3	620	c.447C>T	c.(445-447)ttC>ttT	p.F149F	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	149	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TCTCCTCAGCGAAGTTCCCAG	0.617000														22			19		0	0	0.008871	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49687743	49687743	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:49687743G>A	uc001jgu.3	-	3	684	c.387C>T	c.(385-387)tcC>tcT	p.S129S	ARHGAP22_uc001jgs.3_Silent_p.S39S|ARHGAP22_uc001jgt.3_Silent_p.S129S|ARHGAP22_uc010qgl.2_Intron|ARHGAP22_uc010qgm.2_Silent_p.S135S|ARHGAP22_uc001jgv.3_5'UTR|BC043540_uc001jgw.3_5'Flank	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	129	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGTCACGCTGGGAGCTGGCCA	0.677000														11			8		0	0	0.003080	0	0
FAM83A	84985	broad.mit.edu	37	8	124219708	124219708	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:124219708A>C	uc003ypv.3	+	4	3099	c.1085A>C	c.(1084-1086)cAc>cCc	p.H362P	FAM83A_uc003ypw.3_Intron|FAM83A_uc003ypx.3_Missense_Mutation_p.H362P|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.	362	Pro-rich.									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)			GCGGCCCCACACCCGCCTCCA	0.766000														4			6		0	0	0.003080	0	0
KRT14	3861	broad.mit.edu	37	17	39742796	39742796	+	Silent	SNP	A	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:39742796A>C	uc002hxf.2	-	0	352	c.291T>G	c.(289-291)ggT>ggG	p.G97G	JUP_uc010wfs.2_Intron	NM_000526	NP_000517	P02533	K1C14_HUMAN	Homo sapiens keratin 14 (KRT14), mRNA.	97	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				caaagccaccacccaagccag	0.622000														59			9		0	0	0.005443	0	0
CXorf22	170063	broad.mit.edu	37	X	35993308	35993308	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:35993308A>T	uc004ddj.3	+	13	2365	c.2299A>T	c.(2299-2301)Aat>Tat	p.N767Y	CXorf22_uc010ngv.3_Intron	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	767										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						GAACTCTCCAAATACTCATCT	0.313000														65			23		0	0	0.003330	0	0
OBSCN	84033	broad.mit.edu	37	1	228451914	228451914	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:228451914C>T	uc009xez.1	+	15	4727	c.4683C>T	c.(4681-4683)gcC>gcT	p.A1561A	OBSCN_uc001hsn.3_Silent_p.A1561A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1561	Ig-like 16.				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)				TGGCCCAGGCCCAGACAGAGG	0.657000														67			38		0	0	0.006999	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881246	228881246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:228881246C>T	uc002vpq.2	-	6	4371	c.4324G>A	c.(4324-4326)Gaa>Aaa	p.E1442K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1442K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1442K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1442						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)		GGTTCAGGTTCCCCAGCACAG	0.498000														55			25		0	0	0.003330	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64558668	64558668	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:64558668G>A	uc003jtp.3	-	12	2556	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.S202F	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	581	TSP type-1 1.				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)		GTGTCTTAGGGATGAGGAGAC	0.532000														8			5		0	0	0.000602	0	0
MYH15	22989	broad.mit.edu	37	3	108135742	108135742	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:108135742G>A	uc003dxa.1	-	29	3982	c.3925C>T	c.(3925-3927)Ctg>Ttg	p.L1309L		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1309						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						TGGTTTATCAGAGCCTCCTTC	0.428000														66			19		0	0	0.010504	0	0
TECRL	253017	broad.mit.edu	37	4	65175598	65175598	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:65175598G>A	uc003hcv.3	-	5	712	c.603C>T	c.(601-603)acC>acT	p.T201T	TECRL_uc003hcw.3_Silent_p.T201T	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	201					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GAACAAATAAGGTTTCCAAAA	0.323000														53			18		0	0	0.001882	0	0
HAVCR2	84868	broad.mit.edu	37	5	156522378	156522378	+	Silent	SNP	G	A	A	rs7727003	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:156522378G>A	uc003lwk.2	-	4	869	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Homo sapiens hepatitis A virus cellular receptor 2 (HAVCR2), mRNA.	205						integral to membrane		p.I205I(2)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCCTGCTCCGATGTAGATGC	0.448000														348			121		0	0	0.003610	0	0
COL21A1	81578	broad.mit.edu	37	6	55924020	55924020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:55924020C>T	uc003pcs.3	-	28	2861	c.2629G>A	c.(2629-2631)Gaa>Aaa	p.E877K	COL21A1_uc010jzz.3_Missense_Mutation_p.E262K|COL21A1_uc011dxg.2_Missense_Mutation_p.E250K|COL21A1_uc011dxh.2_Missense_Mutation_p.E228K|COL21A1_uc003pcr.3_Missense_Mutation_p.E234K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	877	Collagen-like 6.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.E877K(1)		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)			CTCCCTTTTTCCCCATTTCTT	0.448000														33			9		0	0	0.000978	0	0
MYL9	10398	broad.mit.edu	37	20	35176481	35176481	+	Silent	SNP	C	T	T	rs146334996		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:35176481C>T	uc002xfl.1	+	2	325	c.231C>T	c.(229-231)gcC>gcT	p.A77A	BC039668_uc002xfk.3_Intron|MYL9_uc002xfm.1_Intron	NM_006097	NP_006088	P24844	MYL9_HUMAN	Homo sapiens myosin, light chain 9, regulatory (MYL9), transcript variant 1, mRNA.	77					axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TGAGCGAGGCCCCGGGGCCCA	0.617000														26			8		0	0	0.004482	0	0
USH2A	7399	broad.mit.edu	37	1	216348792	216348792	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:216348792C>T	uc001hku.1	-	20	4816	c.4429G>A	c.(4429-4431)Gga>Aga	p.G1477R	USH2A_uc001hkv.3_Missense_Mutation_p.G1477R	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1477					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)		CTGTTGATTCCTTTAACCAGA	0.413000										HNSCC(13;0.011)				28			11		0	0	0.000978	0	0
CHL1	10752	broad.mit.edu	37	3	391095	391095	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:391095G>A	uc003bot.3	+	9	1544	c.902G>A	c.(901-903)aGa>aAa	p.R301K	CHL1_uc003bou.3_Missense_Mutation_p.R285K|CHL1_uc003bow.2_Missense_Mutation_p.R285K|CHL1_uc011asi.2_Missense_Mutation_p.R301K	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.	285	Ig-like C2-type 3.				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)		CCAAAGGGGAGAGAAACAAAA	0.373000														18			18		0	0	0.004990	0	0
AZGP1	563	broad.mit.edu	37	7	99569411	99569411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:99569411C>T	uc003ush.3	-	1	387	c.295G>A	c.(295-297)Gag>Aag	p.E99K		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	99					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)					TTCAGGGTCTCCATAAAGATG	0.537000														71			35		0	0	0.003755	0	0
TGM7	116179	broad.mit.edu	37	15	43577113	43577113	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:43577113G>A	uc001zrf.1	-	6	908	c.903C>T	c.(901-903)tcC>tcT	p.S301S		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	301					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)	AACGGAAATTGGAAACAACAC	0.418000														47			20		0	0	0.007413	0	0
CDK3	1018	broad.mit.edu	37	17	73998027	73998027	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:73998027C>T	uc002jqg.4	+	4	2025	c.273C>T	c.(271-273)atC>atT	p.I91I	CDK3_uc010dgt.3_Silent_p.I63I	NM_001258	NP_001249	Q00526	CDK3_HUMAN	Homo sapiens cyclin-dependent kinase 3 (CDK3), mRNA.	63	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						ACCCCAACATCGTCCGGTGAG	0.597000														35			13		0	0	0.001368	0	0
ZBTB11	27107	broad.mit.edu	37	3	101370483	101370483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:101370483C>T	uc003dve.4	-	10	2919	c.2689G>A	c.(2689-2691)Gat>Aat	p.D897N		NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	897					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A896T(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GATCGGGCATCAGCCCAAGCT	0.433000														63			38		0	0	0.006999	0	0
RGS6	9628	broad.mit.edu	37	14	72925077	72925077	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:72925077C>T	uc001xna.4	+	4	857	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C	RGS6_uc021rvv.1_Missense_Mutation_p.R77C|RGS6_uc010ttn.2_Missense_Mutation_p.R112C|RGS6_uc021rvw.1_Missense_Mutation_p.R112C|RGS6_uc021rvx.1_Missense_Mutation_p.R112C|RGS6_uc021rvy.1_Missense_Mutation_p.R112C|RGS6_uc021rvz.1_Missense_Mutation_p.R112C|RGS6_uc001xmy.4_Missense_Mutation_p.R112C|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.R112C|RGS6_uc021rwa.1_Missense_Mutation_p.R112C|RGS6_uc021rwb.1_Missense_Mutation_p.R112C|RGS6_uc010ttp.1_Missense_Mutation_p.R43C|RGS6_uc010arg.3_Non-coding_Transcript	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	112	DEP.				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|signal transducer activity	p.R112C(2)|p.R112H(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CACCTTTTATCGTTTCCAGGT	0.453000														59			19		0	0	0.010504	0	0
SEPT8	23176	broad.mit.edu	37	5	132087726	132087726	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:132087726C>T	uc003kxr.2	-	9	1672	c.1434G>A	c.(1432-1434)tgG>tgA	p.W478*	CCNI2_uc011cxh.1_Silent_p.L282L|CCNI2_uc003kxq.1_Silent_p.L281L|CCNI2_uc011cxg.1_Silent_p.L297L	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	Homo sapiens septin 8 (SEPT8), transcript variant 1, mRNA.	478					cell cycle	septin complex	GTP binding|protein binding		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)			ATCCTTCCCTCCACGTCGCAT	0.572000														15			5		0	0	0.001984	0	0
SEMA3A	10371	broad.mit.edu	37	7	83758442	83758442	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:83758442G>A	uc003uhz.3	-	2	645	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	110	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						TGCTTACCAGGATGTCTTTTC	0.348000														30			10		0	0	0.000978	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373909	86373909	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:86373909G>A	uc010sum.2	-	5	826	c.667C>T	c.(667-669)Cgt>Tgt	p.R223C	MGAT4C_uc001tal.4_Missense_Mutation_p.R199C|MGAT4C_uc001taj.4_Missense_Mutation_p.R199C|MGAT4C_uc001tak.4_Missense_Mutation_p.R199C|MGAT4C_uc001tai.4_Missense_Mutation_p.R199C|MGAT4C_uc001tah.4_Missense_Mutation_p.R199C	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	199					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGCTTGGAACGAAATTTGACT	0.338000														54			20		0	0	0.001882	0	0
RPH3A	22895	broad.mit.edu	37	12	113321148	113321148	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:113321148G>A	uc010syl.2	+	15	1739	c.1377G>A	c.(1375-1377)tgG>tgA	p.W459*	RPH3A_uc001ttz.3_Nonsense_Mutation_p.W459*|RPH3A_uc001tty.3_Nonsense_Mutation_p.W455*|RPH3A_uc009zwe.1_Nonsense_Mutation_p.W455*|RPH3A_uc010sym.2_Nonsense_Mutation_p.W410*|RPH3A_uc001tua.3_Nonsense_Mutation_p.W219*	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	459	C2 1.				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)		ACCCCATCTGGAATGAGACCC	0.567000														25			7		0	0	0.001984	0	0
GPR112	139378	broad.mit.edu	37	X	135390975	135390975	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:135390975G>A	uc004ezu.1	+	3	330	c.39G>A	c.(37-39)ttG>ttA	p.L13L	GPR112_uc010nsb.1_Silent_p.L13L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	13					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)					TTTATGGATTGATTCTCATGT	0.294000														84			33		0	0	0.002836	0	0
NADK	65220	broad.mit.edu	37	1	1688036	1688036	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:1688036G>A	uc001aic.3	-	4	627	c.405C>T	c.(403-405)atC>atT	p.I135I	NADK_uc001aid.4_Silent_p.I135I|NADK_uc001aie.3_Silent_p.I280I|NADK_uc010nyv.2_Silent_p.I103I|NADK_uc009vkx.1_Silent_p.I13I	NM_023018	NP_075394	O95544	NADK_HUMAN	Homo sapiens NAD kinase (NADK), transcript variant 1, mRNA.	135					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ kinase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CCACATACACGATCATGTTCT	0.547000														19			15		0	0	0.003163	0	0
ACSL4	2182	broad.mit.edu	37	X	108926538	108926538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:108926538G>A	uc004eoi.2	-	3	683	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C	ACSL4_uc004eoj.2_Missense_Mutation_p.R19C|ACSL4_uc004eok.2_Missense_Mutation_p.R19C|ACSL4_uc010npp.1_Missense_Mutation_p.R60C	NM_022977	NP_004449	O60488	ACSL4_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 4 (ACSL4), transcript variant 2, mRNA.	60					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	GTGACAGAGCGATATGGACTT	0.403000														181			84		0	0	0.003610	0	0
PEAK1	79834	broad.mit.edu	37	15	77472206	77472206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:77472206G>A	uc021sqy.1	-	4	2639	c.2063C>T	c.(2062-2064)aCt>aTt	p.T688I	PEAK1_uc002bcn.2_Missense_Mutation_p.T688I|PEAK1_uc021sqz.1_Missense_Mutation_p.T86I	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	688					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										AAACCCTTTAGTTTGAAGACA	0.408000														140			44		0	0	0.002852	0	0
VPRBP	9730	broad.mit.edu	37	3	51475452	51475452	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:51475452G>A	uc003dbe.2	-	7	1160	c.975C>T	c.(973-975)atC>atT	p.I325I	VPRBP_uc021wys.1_Silent_p.I324I|VPRBP_uc003dbg.2_Silent_p.I325I	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	325					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)		GTCGCTGCTCGATAGCAGGAG	0.433000														26			9		0	0	0.004482	0	0
EGFL6	25975	broad.mit.edu	37	X	13624618	13624618	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:13624618G>A	uc004cvj.3	+	5	928	c.641G>A	c.(640-642)cGa>cAa	p.R214Q	EGFL6_uc004cvi.3_Missense_Mutation_p.R214Q|EGFL6_uc011mik.1_Missense_Mutation_p.R115Q	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	214					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						ATCAGTGGACGATATGACTGT	0.403000														82			36		0	0	0.004878	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998321	27998321	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:27998321C>T	uc004dbx.1	-	0	1246	c.1131G>A	c.(1129-1131)aaG>aaA	p.K377K		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	377										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						GAGTGAATTTCTTGAGTACTC	0.423000														57			20		0	0	0.007413	0	0
TULP1	7287	broad.mit.edu	37	6	35477426	35477426	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:35477426C>T	uc003okv.4	-	6	715	c.703G>A	c.(703-705)Gcc>Acc	p.A235T	TULP1_uc003okw.4_Missense_Mutation_p.A182T|TULP1_uc021yyx.1_Missense_Mutation_p.A235T|TULP1_uc021yyy.1_Missense_Mutation_p.A235T	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	235					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						TTCTTCAGGGCTTTCTTGTCA	0.597000														66			41		0	0	0.009718	0	0
TM7SF3	51768	broad.mit.edu	37	12	27132786	27132786	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:27132786T>G	uc010sjl.2	-	8	1358	c.1120A>C	c.(1120-1122)Atc>Ctc	p.I374L		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.	374						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)					AGCATGCAGATCGAGAGGATT	0.483000														19			10		0	0	0.006214	0	0
LOC643486	643486	broad.mit.edu	37	X	95592237	95592237	+	RNA	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:95592237C>T	uc010nmx.3	-	0		c.665G>A								Homo sapiens bromodomain, testis-specific pseudogene (LOC643486), non-coding RNA.																		GAGTTTTAATCAAAGTTGTTT	0.338000														7			5		0	0	0.001168	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377661	138377661	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:138377661C>T	uc022bpi.1	+	0	1305	c.1305C>T	c.(1303-1305)gaC>gaT	p.D435D	PPP1R26_uc004cfr.1_Silent_p.D435D	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	435						nucleolus	protein binding										AGACCATGGACCCTGGTCCAG	0.592000														21			7		0	0	0.004482	0	0
CYP4F12	66002	broad.mit.edu	37	19	15806853	15806853	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:15806853T>A	uc002nbl.3	+	9	1342	c.1223T>A	c.(1222-1224)cTc>cAc	p.L408H		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)					GACATTGTTCTCCCAGATGGC	0.612000														57			34		0	0	0.004878	0	0
KALRN	8997	broad.mit.edu	37	3	123987692	123987692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:123987692G>A	uc003ehg.3	+	4	680	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	KALRN_uc010hrv.1_Missense_Mutation_p.E185K|KALRN_uc003ehf.1_Missense_Mutation_p.E185K|KALRN_uc011bjy.1_Missense_Mutation_p.E185K	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	185					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						GGAGTGGATCGAACTGCGGCT	0.602000														42			22		0	0	0.002299	0	0
BIRC6	57448	broad.mit.edu	37	2	32832604	32832604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:32832604C>T	uc010ezu.3	+	71	14287	c.14153C>T	c.(14152-14154)cCc>cTc	p.P4718L		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4718					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)					AGAGGCACTCCCAGTGGCACA	0.418000														83			43		0	0	0.009718	0	0
LPIN3	64900	broad.mit.edu	37	20	39981294	39981294	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:39981294C>T	uc010ggh.3	+	9	1506	c.1415C>T	c.(1414-1416)cCc>cTc	p.P472L	LPIN3_uc002xjx.3_Missense_Mutation_p.P471L|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	471					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				ACCAAAAACCCCGGACTTTTG	0.542000														195			66		0	0	0.003610	0	0
SHH	6469	broad.mit.edu	37	7	155599042	155599042	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:155599042G>A	uc003wmk.1	-	1	661	c.510C>T	c.(508-510)ttC>ttT	p.F170F	SHH_uc003wmh.1_Non-coding_Transcript|SHH_uc003wmi.1_Silent_p.F83F|SHH_uc003wmj.1_Silent_p.F83F	NM_000193	NP_000184	Q15465	SHH_HUMAN	Homo sapiens sonic hedgehog (SHH), mRNA.	170			F -> C (in HPE3).		CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of T cell differentiation in thymus|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACACCCAGTCGAAGCCGGCCT	0.647000														82			18		0	0	0.006122	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48605530	48605530	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:48605530G>A	uc010wmr.2	+	15	2597	c.2435G>A	c.(2434-2436)cGa>cAa	p.R812Q	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	775					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CAGCTGTGGCGAGATGTGATT	0.532000														17			12		0	0	0.001368	0	0
DSG1	1828	broad.mit.edu	37	18	28914104	28914104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:28914104G>A	uc002kwp.3	+	7	1156	c.944G>A	c.(943-945)gGa>gAa	p.G315E		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	315	Cadherin 3.				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)			GGAAATGAAGGAAATTGGTTT	0.299000														52			20		0	0	0.008871	0	0
DNAH5	1767	broad.mit.edu	37	5	13862836	13862836	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:13862836C>T	uc003jfd.2	-	28	4659	c.4617G>A	c.(4615-4617)gtG>gtA	p.V1539V		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1539	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A1538V(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)					CTCTCTCTTTCACCGCACTGA	0.428000									Kartagener syndrome					34			28		0	0	0.009535	0	0
MYO1G	64005	broad.mit.edu	37	7	45006396	45006396	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:45006396C>T	uc003tmh.2	-	14	1968	c.1824G>A	c.(1822-1824)aaG>aaA	p.K608K	MYO1G_uc003tmg.2_Silent_p.K370K|MYO1G_uc010kym.2_Silent_p.K493K|MYO1G_uc003tmi.1_Silent_p.K520K	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	608	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						TCCCAGCTACCTTGTCCTCAT	0.637000														124			50		0	0	0.003610	0	0
ABCC12	94160	broad.mit.edu	37	16	48119526	48119526	+	Missense_Mutation	SNP	C	T	T	rs139931213		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:48119526C>T	uc002efc.1	-	26	4152	c.3806G>A	c.(3805-3807)cGa>cAa	p.R1269Q	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	1269	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R1269*(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GAGAAGAGCTCGGGCCACACA	0.448000														69			14		0	0	0.004007	0	0
MYH13	8735	broad.mit.edu	37	17	10214431	10214431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:10214431C>T	uc002gmk.1	-	32	4735	c.4645G>A	c.(4645-4647)Gaa>Aaa	p.E1549K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1549					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						TCCACTTCTTCTAAGGCGACC	0.493000														55			35		0	0	0.004878	0	0
NPFFR2	10886	broad.mit.edu	37	4	73003829	73003829	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:73003829T>A	uc003hgg.2	+	2	805	c.707T>A	c.(706-708)tTt>tAt	p.F236Y	NPFFR2_uc010iig.2_Missense_Mutation_p.F18Y|NPFFR2_uc003hgi.2_Missense_Mutation_p.F137Y|NPFFR2_uc003hgh.2_Missense_Mutation_p.F134Y	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	236					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)			GCTTCAGTCTTTACGTTAGTT	0.398000														31			13		0	0	0.002450	0	0
OR7D4	125958	broad.mit.edu	37	19	9325379	9325379	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:9325379G>A	uc002mla.2	-	0	169	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	45					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						CGGCCAGAATGATGAGCAGGT	0.552000														95			26		0	0	0.003954	0	0
TRANK1	9881	broad.mit.edu	37	3	36897228	36897228	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:36897228C>T	uc003cgj.3	-	11	4101	c.3853G>A	c.(3853-3855)Gaa>Aaa	p.E1285K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1285					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.E735K(2)|p.E1285K(1)		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						GGCCATATTTCATTTTTGAAC	0.468000														118			50		0	0	0.003610	0	0
DNM2	1785	broad.mit.edu	37	19	10909219	10909219	+	Missense_Mutation	SNP	C	T	T	rs121909091		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:10909219C>T	uc002mpt.2	+	10	1583	c.1393C>T	c.(1393-1395)Cgg>Tgg	p.R465W	DNM2_uc010dxk.2_Non-coding_Transcript|DNM2_uc002mps.2_Missense_Mutation_p.R465W|DNM2_uc010dxl.2_Missense_Mutation_p.R465W|DNM2_uc002mpu.2_Missense_Mutation_p.R465W|DNM2_uc002mpv.2_Missense_Mutation_p.R465W|DNM2_uc002mpw.3_Missense_Mutation_p.R198W	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	465			R -> W (in ADCNM; reduced association with the centrosome; COS7 cells show a reduced uptake of transferrin and low- density lipoprotein complex).		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)			CACTTACATCCGGGAACGGGA	0.527000			"""F, N, Splice, Mis, O"""		ETP ALL									43			16		0	0	0.007413	0	0
FCRL5	83416	broad.mit.edu	37	1	157485415	157485415	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:157485415G>A	uc009wsm.3	-	16	3132	c.2974C>T	c.(2974-2976)Ccc>Tcc	p.P992S	FCRL5_uc001fqu.3_3'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	0						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)				TCCCCCAAGGGGAACTTTGGG	0.532000														147			43		0	0	0.007835	0	0
TKTL2	84076	broad.mit.edu	37	4	164393562	164393562	+	Missense_Mutation	SNP	C	T	T	rs3811750	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:164393562C>T	uc003iqp.4	-	0	1486	c.1325G>A	c.(1324-1326)cGa>cAa	p.R442Q		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	442			R -> Q (in dbSNP:rs3811750).			cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGGAATGCTTCGGAACATGGC	0.468000														47			25		0	0	0.004656	0	0
OSMR	9180	broad.mit.edu	37	5	38881786	38881786	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:38881786G>A	uc003jln.2	+	3	740	c.338G>A	c.(337-339)aGa>aAa	p.R113K	OSMR_uc003jlm.2_Missense_Mutation_p.R113K	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	113					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)					CACTTTGTAAGAATAAAGAGT	0.483000														56			27		0	0	0.004656	0	0
VN1R2	317701	broad.mit.edu	37	19	53762570	53762570	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:53762570C>T	uc002qbi.2	+	0	1026	c.942C>T	c.(940-942)atC>atT	p.I314I		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	314					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)		ACAGAGCCATCCAAAGCATCC	0.468000														93			38		0	0	0.004878	0	0
THBS1	7057	broad.mit.edu	37	15	39885299	39885299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:39885299G>A	uc001zkh.3	+	17	3045	c.2866G>A	c.(2866-2868)Gat>Aat	p.D956N	THBS1_uc010bbi.3_Missense_Mutation_p.D428N	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	956					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)	CAGTGAGACCGATTTCCGCCG	0.502000														40			19		0	0	0.007413	0	0
DCC	1630	broad.mit.edu	37	18	50432427	50432427	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:50432427C>T	uc002lfe.2	+	2	1042	c.426C>T	c.(424-426)ttC>ttT	p.F142F	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	142	Ig-like C2-type 2.				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)		CACTGAGGTTCCTTTCACAGA	0.413000														33			24		0	0	0.003954	0	0
DST	667	broad.mit.edu	37	6	56400020	56400020	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:56400020G>A	uc003pcy.4	-	43	9080	c.8972C>T	c.(8971-8973)tCc>tTc	p.S2991F		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	5403					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)			GCTGAGCAGGGACTCCAGGGC	0.557000														73			41		0	0	0.006999	0	0
GPR116	221395	broad.mit.edu	37	6	46846012	46846012	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:46846012C>T	uc003oyo.3	-	9	1456	c.1167G>A	c.(1165-1167)ttG>ttA	p.L389L	GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Silent_p.L389L|GPR116_uc010jzi.1_Silent_p.L61L|GPR116_uc003oyr.2_Silent_p.L389L	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	389	Ig-like 2.				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)			TGCAGCAGTTCAAAGATACAG	0.368000														45			13		0	0	0.002450	0	0
GABRR3	200959	broad.mit.edu	37	3	97731240	97731240	+	RNA	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:97731240C>T	uc021xbo.1	-	4		c.595G>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						ATGATATTCTCCATAGTTGTA	0.448000														49			7		0	0	0.001984	0	0
MYO15A	51168	broad.mit.edu	37	17	18045494	18045494	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:18045494C>T	uc021trm.1	+	22	5970	c.5751C>T	c.(5749-5751)ttC>ttT	p.F1917F	MYO15A_uc021trl.1_Silent_p.F1915F	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1917	IQ 1.|Neck or regulatory domain.				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)					GTGGCTTCTTCATTAAGCGGC	0.572000														37			23		0	0	0.001882	0	0
DOT1L	84444	broad.mit.edu	37	19	2228259	2228259	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:2228259C>T	uc002lvc.1	+	13	3779	c.3012C>T	c.(3010-3012)gcC>gcT	p.A1004A	DOT1L_uc002lvb.4_Intron	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1711						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)		TCCCACAGGCCAGCGCCACGG	0.731000														54			21		0	0	0.008871	0	0
SPAM1	6677	broad.mit.edu	37	7	123593837	123593837	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:123593837C>T	uc003vle.3	+	2	652	c.213C>T	c.(211-213)agC>agT	p.S71S	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Silent_p.S71S|SPAM1_uc022aks.1_Silent_p.S71S|SPAM1_uc003vlf.4_Silent_p.S71S|SPAM1_uc010lku.3_Silent_p.S71S	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	71					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TAGATATGAGCCTCTTCTCTT	0.433000														37			10		0	0	0.006214	0	0
EVPL	2125	broad.mit.edu	37	17	74006303	74006303	+	Missense_Mutation	SNP	C	T	T	rs139325619		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:74006303C>T	uc010wss.1	-	21	3277	c.3049G>A	c.(3049-3051)Gtg>Atg	p.V1017M	EVPL_uc002jqi.2_Missense_Mutation_p.V995M|EVPL_uc010wst.1_Missense_Mutation_p.V465M	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	995	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						TGGGCTGCCACTTCCAGGTCT	0.662000														57			30		0	0	0.002096	0	0
DOK2	9046	broad.mit.edu	37	8	21767052	21767052	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:21767052G>A	uc003wzx.1	-	4	1102	c.1009C>T	c.(1009-1011)Ctg>Ttg	p.L337L	DOK2_uc003wzy.1_Silent_p.L337L|DOK2_uc003wzz.1_Silent_p.L183L|DOK2_uc010lth.1_Silent_p.L183L	NM_003974	NP_003965	O60496	DOK2_HUMAN	Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.	337	Pro-rich.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CGAGGGGGCAGGGTCTCCTCA	0.642000														54			24		0	0	0.006320	0	0
SLC22A16	85413	broad.mit.edu	37	6	110752417	110752417	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:110752417G>A	uc003puf.3	-	6	1545	c.1478C>T	c.(1477-1479)cCg>cTg	p.P493L	SLC22A16_uc003pue.3_Missense_Mutation_p.P474L	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	493					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.A492A(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CACAGAGAACGGCGCCAGGAT	0.572000														27			23		0	0	0.005443	0	0
GRIK1	2897	broad.mit.edu	37	21	31045476	31045476	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:31045476G>A	uc002yno.1	-	3	1017	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	GRIK1_uc002ynn.3_Missense_Mutation_p.R185C|GRIK1_uc011acs.2_Missense_Mutation_p.R185C|GRIK1_uc011act.2_Missense_Mutation_p.R129C|GRIK1_uc010glq.1_Missense_Mutation_p.R43C|GRIK1_uc002ynr.3_Missense_Mutation_p.R185C	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	185					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCTTGTAGACGAATTAGACCT	0.393000														37			17		0	0	0.004007	0	0
SGSM1	129049	broad.mit.edu	37	22	25294301	25294301	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:25294301C>T	uc003abg.2	+	19	2707	c.2550C>T	c.(2548-2550)ttC>ttT	p.F850F	SGSM1_uc010guu.1_Silent_p.F795F|SGSM1_uc003abh.2_Silent_p.F789F|SGSM1_uc003abj.2_Silent_p.F734F|SGSM1_uc003abi.1_Silent_p.F770F	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	850	Rab-GAP TBC.					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						TGGACGAGTTCATGTCCATCA	0.627000														52			17		0	0	0.004007	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059011	152059011	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:152059011C>T	uc001ezo.1	-	2	1212	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	383							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)			TCAGATGTTTCTGAACCATTT	0.463000														132			212		0	0	0.003610	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134501399	134501399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:134501399G>A	uc022bos.1	-	9	1774	c.1615C>T	c.(1615-1617)Cct>Tct	p.P539S	RAPGEF1_uc022bot.1_Missense_Mutation_p.P521S|RAPGEF1_uc010mzm.3_Non-coding_Transcript|RAPGEF1_uc022bou.1_Missense_Mutation_p.P526S|RAPGEF1_uc022bov.1_Missense_Mutation_p.P526S	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	521					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		AATTCGACAGGGGCTGAGGAA	0.537000														29			12		0	0	0.001368	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48511977	48511977	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:48511977C>T	uc002pht.3	+	1	231	c.53C>T	c.(52-54)tCc>tTc	p.S18F		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.	18					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)		CTTCTCTATTCCTATGAGTCA	0.453000														11			5		0	0	0.001984	0	0
MGAM	8972	broad.mit.edu	37	7	141750058	141750058	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:141750058C>A	uc003vwy.3	+	22	2665	c.2611C>A	c.(2611-2613)Ctt>Att	p.L871I		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	871	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TAAAGTGTATCTTTTATGTGA	0.413000														176			47		8.04919e-23	8.25648e-23	0.003610	1	0
HIPK4	147746	broad.mit.edu	37	19	40886649	40886649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:40886649C>T	uc002onp.3	-	2	1534	c.1249G>A	c.(1249-1251)Gag>Aag	p.E417K		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	417						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)			GGTGCCTTCTCCTCTCGGAAG	0.627000														71			32		0	0	0.002096	0	0
ZNF10	7556	broad.mit.edu	37	12	133732654	133732654	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:133732654C>T	uc009zzb.3	+	4	1269	c.822C>T	c.(820-822)ttC>ttT	p.F274F	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Silent_p.F274F	NM_015394	NP_056209	P21506	ZNF10_HUMAN	Homo sapiens zinc finger protein 10 (ZNF10), mRNA.	274				Missing (in Ref. 1).	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)		GAAAATTCTTCAGCTGGCGCT	0.403000														41			19		0	0	0.007413	0	0
PASD1	139135	broad.mit.edu	37	X	150780153	150780153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:150780153G>A	uc004fev.4	+	3	467	c.135G>A	c.(133-135)atG>atA	p.M45I		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	45	PAS.					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)					ATGGCTTTATGATTACACTGA	0.308000														64			23		0	0	0.003954	0	0
ENAM	10117	broad.mit.edu	37	4	71508414	71508414	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:71508414C>T	uc011caw.1	+	8	1552	c.1271C>T	c.(1270-1272)cCt>cTt	p.P424L		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	424					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)			GGTCCCAAACCTGGCCCTGTT	0.463000														57			28		0	0	0.004656	0	0
PCYT1A	5130	broad.mit.edu	37	3	195968946	195968946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:195968946G>A	uc003fwg.3	-	7	754	c.581C>T	c.(580-582)aCa>aTa	p.T194I	PCYT1A_uc003fwh.3_Missense_Mutation_p.T194I	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA.	194	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-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;0.00259)	Choline(DB00122)	TGTCCTCTGTGTTGGAGCAAA	0.468000														86			27		0	0	0.008361	0	0
NDST1	3340	broad.mit.edu	37	5	149918882	149918882	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:149918882C>T	uc003lsk.4	+	6	2032	c.1530C>T	c.(1528-1530)aaC>aaT	p.N510N	NDST1_uc011dcj.2_Silent_p.N510N|NDST1_uc003lsl.3_Silent_p.N510N	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	510	Heparan sulfate N-deacetylase 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)			AGATCATCAACGGGGGCGAGC	0.607000														123			43		0	0	0.002522	0	0
TGM4	7047	broad.mit.edu	37	3	44952563	44952563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:44952563G>A	uc003coc.4	+	11	1793	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	574					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)	GGAGTCTAAGGAAATCATGGC	0.468000														69			25		0	0	0.003954	0	0
OR4L1	122742	broad.mit.edu	37	14	20528394	20528394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:20528394G>A	uc001vwn.1	+	0	191	c.191G>A	c.(190-192)gGa>gAa	p.G64E		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTTCTCCTTGGAAATCTCTCT	0.458000														83			18		0	0	0.008871	0	0
LRP1B	53353	broad.mit.edu	37	2	141032006	141032006	+	Missense_Mutation	SNP	C	T	T	rs150457308	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:141032006C>T	uc002tvj.1	-	84	14101	c.13129G>A	c.(13129-13131)Gat>Aat	p.D4377N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4377					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D4377Y(2)		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)		CAAAATATATCTTCACTGTCT	0.383000										TSP Lung(27;0.18)				28			10		0	0	0.008291	0	0
SIRPG	55423	broad.mit.edu	37	20	1629967	1629967	+	Missense_Mutation	SNP	G	A	A	rs143978848	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:1629967G>A	uc002wfm.1	-	1	226	c.161C>T	c.(160-162)aCt>aTt	p.T54I	SIRPG_uc002wfn.1_Missense_Mutation_p.T54I|SIRPG_uc002wfo.1_Missense_Mutation_p.T54I	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	54	Ig-like V-type.				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						GGAGGTCACAGTGCAGTGCAG	0.542000														40			29		0	0	0.006320	0	0
CDH20	28316	broad.mit.edu	37	18	59157792	59157792	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:59157792G>A	uc010dps.1	+	0	158	c.6G>A	c.(4-6)tgG>tgA	p.W2*	CDH20_uc002lif.2_5'UTR	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	2					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)				ATCCCATGTGGACTTCTGGTA	0.423000														65			27		0	0	0.002445	0	0
ETFA	2108	broad.mit.edu	37	15	76584828	76584828	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:76584828T>C	uc002bbt.2	-	3	376	c.295A>G	c.(295-297)Act>Gct	p.T99A	ETFA_uc010bkq.1_Missense_Mutation_p.T50A	NM_000126	NP_000117	P13804	ETFA_HUMAN	Homo sapiens electron-transfer-flavoprotein, alpha polypeptide (ETFA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	99					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TGCTTCTGAGTTGCCAAAATC	0.353000														36			16		0	0	0.008871	0	0
FRMPD2	143162	broad.mit.edu	37	10	49395325	49395325	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:49395325C>A	uc001jgi.3	-	16	2507	c.2176G>T	c.(2176-2178)Ggc>Tgc	p.G726C	FRMPD2_uc001jgh.3_Missense_Mutation_p.G694C|FRMPD2_uc001jgj.3_Missense_Mutation_p.G695C	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	726					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)		TGCTCCCGGCCAGTGCAGGGG	0.562000														20			7		0.000442599	0.000446193	0.006214	1	0
GLDN	342035	broad.mit.edu	37	15	51696816	51696816	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:51696816C>G	uc002aba.3	+	9	1690	c.1521C>G	c.(1519-1521)aaC>aaG	p.N507K	GLDN_uc002abb.3_Missense_Mutation_p.N383K	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	507	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)		TCAATGCAAACTTTGATTTAA	0.403000														75			40		0	0	0.006230	0	0
WBP2NL	164684	broad.mit.edu	37	22	42415351	42415351	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:42415351C>T	uc003bbt.3	+	1	193	c.99C>T	c.(97-99)ttC>ttT	p.F33F	WBP2NL_uc011apk.2_Intron|WBP2NL_uc003bbu.2_Non-coding_Transcript|WBP2NL_uc003bbv.1_5'Flank	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN	Homo sapiens WBP2 N-terminal like (WBP2NL), mRNA.	33					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						AGCTCTCCTTCCCACAGCGAT	0.408000														46			22		0	0	0.002780	0	0
CASKIN1	57524	broad.mit.edu	37	16	2229903	2229903	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:2229903C>T	uc010bsg.1	-	17	3498	c.3466G>A	c.(3466-3468)Gag>Aag	p.E1156K		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	1156	Pro-rich.				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						GCCTCCCGCTCCTTGGCCTTG	0.667000														14			4		0	0	0.000602	0	0
TUSC5	286753	broad.mit.edu	37	17	1198819	1198819	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:1198819G>A	uc002fsi.1	+	1	761	c.422G>A	c.(421-423)gGc>gAc	p.G141D		NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN	Homo sapiens tumor suppressor candidate 5 (TUSC5), mRNA.	141					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AACGTGGACGGCGCCCGGAGG	0.622000														112			65		0	0	0.003610	0	0
STT3A	3703	broad.mit.edu	37	11	125479396	125479396	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:125479396C>T	uc001qcd.2	+	9	1139	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	STT3A_uc009zbm.2_Silent_p.I343I|STT3A_uc001qce.2_Silent_p.I343I|STT3A_uc010sbg.1_Silent_p.I251I|STT3A_uc009zbn.2_Intron	NM_152713	NP_689926	P46977	STT3A_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) (STT3A), mRNA.	343					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|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;0.0996)		AGAACAACATCCCCATCATTG	0.483000														65			34		0	0	0.002836	0	0
SLC4A8	9498	broad.mit.edu	37	12	51857462	51857462	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:51857462G>A	uc001rys.1	+	10	1491	c.1313G>A	c.(1312-1314)gGg>gAg	p.G438E	SLC4A8_uc010sni.2_Missense_Mutation_p.G385E|SLC4A8_uc001rym.3_Missense_Mutation_p.G385E|SLC4A8_uc001ryn.3_Missense_Mutation_p.G385E|SLC4A8_uc001ryo.2_Missense_Mutation_p.G385E|SLC4A8_uc010snj.2_Missense_Mutation_p.G465E|SLC4A8_uc001ryq.4_Missense_Mutation_p.G438E|SLC4A8_uc001ryr.3_Missense_Mutation_p.G438E|SLC4A8_uc010snk.2_Missense_Mutation_p.G385E	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	438					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GAACCACATGGGGGTCACAGT	0.463000														98			25		0	0	0.005443	0	0
FGF5	2250	broad.mit.edu	37	4	81207613	81207613	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:81207613C>T	uc003hmd.3	+	2	831	c.594C>T	c.(592-594)gcC>gcT	p.A198A	FGF5_uc003hme.3_3'UTR	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	198					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GAGGAAAAGCCAAACGAGGGT	0.458000														70			23		0	0	0.002299	0	0
KIF21B	23046	broad.mit.edu	37	1	200972904	200972904	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:200972904G>A	uc001gvs.2	-	7	1339	c.1022C>T	c.(1021-1023)aCc>aTc	p.T341I	KIF21B_uc009wzl.2_Missense_Mutation_p.T341I|KIF21B_uc001gvr.2_Missense_Mutation_p.T341I|KIF21B_uc010ppn.2_Missense_Mutation_p.T341I|KIF21B_uc001gvt.1_Missense_Mutation_p.T199I	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	341					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						GATCATGATGGTCTGGCTGGG	0.572000														36			66		0	0	0.003610	0	0
AFM	173	broad.mit.edu	37	4	74352808	74352808	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:74352808C>T	uc003hhb.3	+	4	638	c.607C>T	c.(607-609)Caa>Taa	p.Q203*		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	203	Albumin 1.				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)			CAACTGCCTTCAAACAAGGGT	0.413000														25			9		0	0	0.004482	0	0
MGAT4C	25834	broad.mit.edu	37	12	86374166	86374166	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:86374166C>T	uc010sum.2	-	5	569	c.410G>A	c.(409-411)gGa>gAa	p.G137E	MGAT4C_uc001tal.4_Missense_Mutation_p.G113E|MGAT4C_uc001taj.4_Missense_Mutation_p.G113E|MGAT4C_uc001tak.4_Missense_Mutation_p.G113E|MGAT4C_uc001tai.4_Missense_Mutation_p.G113E|MGAT4C_uc001tah.4_Missense_Mutation_p.G113E	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	113					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TAAATAGTTTCCTTTTTTTCG	0.328000														20			14		0	0	0.001855	0	0
STK31	56164	broad.mit.edu	37	7	23871875	23871875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:23871875G>A	uc003sws.4	+	23	3017	c.2950G>A	c.(2950-2952)Gaa>Aaa	p.E984K	STK31_uc003swt.4_Missense_Mutation_p.E961K|STK31_uc011jze.2_Missense_Mutation_p.E961K|STK31_uc010kuq.3_Missense_Mutation_p.E961K|STK31_uc003swv.1_Missense_Mutation_p.E150K	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	984	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCCAAACCCAGAAAAAGATAC	0.358000														58			18		0	0	0.004990	0	0
SAMD7	344658	broad.mit.edu	37	3	169644401	169644401	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:169644401G>A	uc003fgd.3	+	5	618	c.351G>A	c.(349-351)aaG>aaA	p.K117K	SAMD7_uc003fge.3_Silent_p.K117K|SAMD7_uc011bpo.2_Silent_p.K18K	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	117										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TTAATCCCAAGGGACTAGCAG	0.478000														51			17		0	0	0.006122	0	0
LOC642846	642846	broad.mit.edu	37	12	9453702	9453702	+	RNA	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:9453702C>T	uc001qvp.2	+	0		c.13C>T			LOC642846_uc010sgp.1_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA.									p.P370S(2)									GGTGGTGCTGCCCTATCAGAT	0.662000														10			3		0	0	0.000602	0	0
TBXAS1	6916	broad.mit.edu	37	7	139706935	139706935	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:139706935G>A	uc011kqv.2	+	10	1555	c.1320G>A	c.(1318-1320)ctG>ctA	p.L440L	TBXAS1_uc003vvh.3_Silent_p.L394L|TBXAS1_uc010lne.3_Silent_p.L326L|TBXAS1_uc011kqu.2_Silent_p.L345L|TBXAS1_uc003vvi.3_Silent_p.L394L|TBXAS1_uc011kqw.2_Silent_p.L374L|TBXAS1_uc003vvj.3_Silent_p.L394L	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	393					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)					TGCCCTATCTGGACATGGTGA	0.602000														151			44		0	0	0.003214	0	0
ADCY5	111	broad.mit.edu	37	3	123008708	123008708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:123008708C>T	uc003egh.2	-	18	3421	c.3421G>A	c.(3421-3423)Gac>Aac	p.D1141N	ADCY5_uc021xdd.1_Missense_Mutation_p.D791N|ADCY5_uc003egg.2_Missense_Mutation_p.D799N	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	1141	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)		CCCACCTTGTCGTAGGTAGAG	0.542000														70			22		0	0	0.010504	0	0
TAAR6	319100	broad.mit.edu	37	6	132891816	132891816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:132891816C>T	uc011eck.2	+	0	356	c.356C>T	c.(355-357)tCt>tTt	p.S119F		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA.	119						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)		TGTTACTCTTCTCTCTTTCAC	0.483000														92			45		0	0	0.002852	0	0
TNK2	10188	broad.mit.edu	37	3	195605354	195605354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:195605354C>T	uc003fvu.1	-	7	1667	c.1124G>A	c.(1123-1125)aGa>aAa	p.R375K	TNK2_uc003fvs.1_Missense_Mutation_p.R407K|TNK2_uc003fvt.1_Missense_Mutation_p.R438K|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_Missense_Mutation_p.R205K	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	375	Protein kinase.			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)	AAACGTGGGTCTGTCCTCTGG	0.642000														76			60		0	0	0.003610	0	0
PNMA2	10687	broad.mit.edu	37	8	26365726	26365726	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:26365726C>T	uc022atc.1	-	0	546	c.546G>A	c.(544-546)gaG>gaA	p.E182E	PNMA2_uc003xez.2_Silent_p.E182E	NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN	Homo sapiens paraneoplastic antigen MA2 (PNMA2), mRNA.	182					apoptosis	nucleolus	protein binding	p.E182E(2)		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)		ccaaccagacctcaaaggact	0.582000														73			31		0	0	0.002096	0	0
LRRCC1	85444	broad.mit.edu	37	8	86044124	86044124	+	Silent	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:86044124A>G	uc003ycw.3	+	11	2104	c.1896A>G	c.(1894-1896)ttA>ttG	p.L632L	LRRCC1_uc010lzz.2_Non-coding_Transcript|LRRCC1_uc022awx.1_Silent_p.L539L|LRRCC1_uc010maa.2_Silent_p.L333L|LRRCC1_uc003ycy.3_Silent_p.L612L	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	632					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						TTGACGTGTTAAGCCAGCAGT	0.363000														26			12		0	0	0.001855	0	0
CDC5L	988	broad.mit.edu	37	6	44392179	44392179	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:44392179C>T	uc003oxl.3	+	10	1738	c.1428C>T	c.(1426-1428)ctC>ctT	p.L476L		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	476	Interaction with PPP1R8.				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)			GAGAACATCTCCGTTTAGGGT	0.388000														25			22		0	0	0.003330	0	0
PARP4	143	broad.mit.edu	37	13	25029162	25029162	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:25029162G>A	uc001upl.3	-	21	2857	c.2751C>T	c.(2749-2751)ttC>ttT	p.F917F	PARP4_uc010tdc.2_Silent_p.F917F	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	917	VWFA.				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)		CACCTGTGCCGAACTGGATAA	0.532000														136			48		0	0	0.003610	0	0
OR2A5	393046	broad.mit.edu	37	7	143748028	143748028	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:143748028C>T	uc011ktw.2	+	0	534	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ACCACTTCTTCTGTGAAATCC	0.552000														244			66		0	0	0.003610	0	0
RPSAP52	204010	broad.mit.edu	37	12	66152054	66152054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:66152054C>T	uc001sso.3	-	1	890	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K						Homo sapiens ribosomal protein SA pseudogene 52 (RPSAP52), non-coding RNA.																		TCTGCAACTTCAGGCTGAGTA	0.502000														9			7		0	0	0.001984	0	0
SPOCD1	90853	broad.mit.edu	37	1	32259361	32259361	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:32259361C>T	uc001bts.1	-	11	2579	c.2521G>A	c.(2521-2523)Gaa>Aaa	p.E841K	SPOCD1_uc001btr.1_5'Flank|SPOCD1_uc001btu.3_Missense_Mutation_p.E841K|SPOCD1_uc001btv.3_Missense_Mutation_p.E334K|SPOCD1_uc021oks.1_Missense_Mutation_p.E146K	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	841					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)		TCCTGTGGTTCCGTGGGAGAC	0.582000														72			30		0	0	0.008361	0	0
SAFB2	9667	broad.mit.edu	37	19	5616247	5616247	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:5616247A>T	uc002mcd.3	-	3	651	c.439T>A	c.(439-441)Ttt>Att	p.F147I	SAFB2_uc010xio.1_Missense_Mutation_p.F147I|SAFB2_uc010xip.1_Non-coding_Transcript	NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TCCTCCCCAAAATCTGGAGCA	0.532000														35			11		0	0	0.001368	0	0
HNF1B	6928	broad.mit.edu	37	17	36099564	36099564	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:36099564C>T	uc002hok.4	-	1	632	c.411G>A	c.(409-411)agG>agA	p.R137R	HNF1B_uc010wdi.2_Silent_p.R137R|HNF1B_uc021tvv.1_Silent_p.R137R|HNF1B_uc021tvw.1_Silent_p.R137R	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	137					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)			CGACCACCTCCCTCTGGGGGA	0.552000														475			236		0	0	0.003610	0	0
DNAJA3	9093	broad.mit.edu	37	16	4504910	4504910	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:4504910T>G	uc002cwk.3	+	10	1515	c.1438T>G	c.(1438-1440)Tca>Gca	p.S480A	DNAJA3_uc002cwl.3_Intron|DNAJA3_uc010uxk.2_Intron	NM_005147	NP_005138	Q96EY1	DNJA3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 3 (DNAJA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	480					activation of caspase activity|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|NF-kappaB binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						AATGTTTACCTCATGATATCC	0.478000														20			7		0	0	0.004482	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64635416	64635416	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:64635416G>A	uc003dmg.3	-	9	1534	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F	ADAMTS9_uc011bfo.2_Missense_Mutation_p.S473F|ADAMTS9_uc003dmh.1_Missense_Mutation_p.S330F|ADAMTS9_uc003dmk.1_Missense_Mutation_p.S501F	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	501					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GTAGGGTCTGGATTCAGGTTC	0.488000														396			125		0	0	0.003610	0	0
CPEB3	22849	broad.mit.edu	37	10	93940758	93940758	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:93940758A>G	uc001khw.2	-	3	1388	c.1184T>C	c.(1183-1185)tTc>tCc	p.F395S	CPEB3_uc001khu.2_Missense_Mutation_p.F395S|CPEB3_uc001khv.2_Missense_Mutation_p.F372S|CPEB3_uc010qnn.2_Missense_Mutation_p.F372S	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA.	395							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)				TGGATGATGGAAATTTATCCC	0.264000														32			9		0	0	0.006214	0	0
ZNF79	7633	broad.mit.edu	37	9	130207399	130207399	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:130207399G>A	uc004bqw.4	+	4	1834	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	ZNF79_uc011maf.2_Missense_Mutation_p.E450K|ZNF79_uc011mag.2_Missense_Mutation_p.E450K	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	Homo sapiens zinc finger protein 79 (ZNF79), mRNA.	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y473N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GAAACCCTACGAATGCAGCGA	0.507000														142			57		0	0	0.003610	0	0
CREBBP	1387	broad.mit.edu	37	16	3786779	3786779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:3786779C>T	uc002cvv.3	-	26	4636	c.4432G>A	c.(4432-4434)Gaa>Aaa	p.E1478K	CREBBP_uc002cvw.3_Missense_Mutation_p.E1440K	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1478	Cys/His-rich.|Interaction with TRERF1.				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)		TCATCTCCTTCACTTGGAGGA	0.512000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							68			51		0	0	0.003610	0	0
MYOM3	127294	broad.mit.edu	37	1	24434504	24434504	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:24434504G>A	uc001bin.4	-	2	384	c.221C>T	c.(220-222)aCg>aTg	p.T74M	MYOM3_uc001bio.3_Missense_Mutation_p.T74M|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	74										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)		GGAGGAGGCCGTCAGAGCCAG	0.637000														58			30		0	0	0.004289	0	0
PCNXL2	80003	broad.mit.edu	37	1	233394138	233394138	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:233394138C>T	uc001hvl.2	-	4	1705	c.1470G>A	c.(1468-1470)tgG>tgA	p.W490*	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	490						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)				ACACCGATTCCCAGGGTTCCC	0.547000														41			42		0	0	0.008740	0	0
CYP4F2	8529	broad.mit.edu	37	19	16003245	16003245	+	Splice_Site	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:16003245C>T	uc002nbs.1	-	5	448	c.398_splice	c.e5-1	p.G133_splice	CYP4F2_uc010xot.1_5'UTR|CYP4F2_uc010xou.1_Splice_Site	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	133					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						GGAGCCCATCCCCTAGCAGGG	0.592000														61			34		0	0	0.002836	0	0
CRNKL1	51340	broad.mit.edu	37	20	20028529	20028529	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:20028529C>T	uc002wrs.3	-	5	1017	c.985G>A	c.(985-987)Gcc>Acc	p.A329T	CRNKL1_uc002wrt.1_Missense_Mutation_p.A317T	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	329					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						ACCTGCCGGGCACCGGCAACG	0.502000														37			16		0	0	0.003163	0	0
C10orf120	399814	broad.mit.edu	37	10	124457628	124457628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:124457628C>T	uc001lgn.3	-	2	661	c.629G>A	c.(628-630)cGa>cAa	p.R210Q		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	210										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)				GTCTTCCTTTCGTCTGGCCTT	0.433000														15			32		0	0	0.008361	0	0
FAT4	79633	broad.mit.edu	37	4	126373565	126373565	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:126373565G>A	uc003ifj.4	+	8	11394	c.11394G>A	c.(11392-11394)gtG>gtA	p.V3798V	FAT4_uc011cgp.2_Silent_p.V2096V|FAT4_uc003ifi.1_Silent_p.V1276V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3798					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V3798A(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						GAGTAAAGGTGGAATCTGTGG	0.483000														31			13		0	0	0.002450	0	0
SMARCA1	6594	broad.mit.edu	37	X	128614696	128614696	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:128614696C>T	uc011muk.1	-	18	2537	c.2424G>A	c.(2422-2424)cgG>cgA	p.R808R	SMARCA1_uc004eun.4_Silent_p.R808R|SMARCA1_uc004eup.4_Silent_p.R796R|SMARCA1_uc011mul.1_Silent_p.R796R	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.	808					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						CTATTGTCTTCCGATAATAAA	0.323000														18			14		0	0	0.001855	0	0
SCN2A	6326	broad.mit.edu	37	2	166198926	166198926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:166198926G>A	uc002udc.3	+	14	2799	c.2509G>A	c.(2509-2511)Gaa>Aaa	p.E837K	SCN2A_uc002udd.3_Missense_Mutation_p.E837K|SCN2A_uc002ude.3_Missense_Mutation_p.E837K	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	837					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.M836I(1)		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)	TAGTTTAATGGAACTTGGTTT	0.348000														71			29		0	0	0.008361	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156716567	156716567	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:156716567G>A	uc003ipc.3	+	6	968	c.801G>A	c.(799-801)ggG>ggA	p.G267G	GUCY1B3_uc011cio.2_Silent_p.G289G|GUCY1B3_uc011cip.2_Silent_p.G247G|GUCY1B3_uc003ipd.3_Silent_p.G195G|GUCY1B3_uc010iqf.3_Silent_p.G267G|GUCY1B3_uc010iqg.3_Silent_p.G195G|GUCY1B3_uc011ciq.2_Silent_p.G195G	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	Homo sapiens guanylate cyclase 1, soluble, beta 3 (GUCY1B3), mRNA.	267					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)		GTTTCCATGGGATCCTTTCTC	0.363000														43			20		0	0	0.001882	0	0
GJD2	57369	broad.mit.edu	37	15	35045173	35045173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:35045173C>T	uc001zis.1	-	1	472	c.472G>A	c.(472-474)Gag>Aag	p.E158K	AK092087_uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.	158					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CTGGTGTTCTCTGTGTTCTGC	0.512000														156			80		0	0	0.003610	0	0
UBE2D3	7323	broad.mit.edu	37	4	103723739	103723739	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:103723739G>A	uc003hwk.3	-	4	638	c.177C>T	c.(175-177)gaC>gaT	p.D59D	UBE2D3_uc003hwi.3_Silent_p.D59D|UBE2D3_uc003hwl.3_Silent_p.D59D|UBE2D3_uc011cet.2_Silent_p.D59D|UBE2D3_uc011ceu.2_Silent_p.D59D|UBE2D3_uc003hwo.3_Silent_p.D59D|UBE2D3_uc003hwp.3_Silent_p.D59D|UBE2D3_uc003hwq.3_Silent_p.D61D|UBE2D3_uc003hwr.3_Silent_p.D59D	NM_181887	NP_871620	P61077	UB2D3_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2D 3 (UBE2D3), transcript variant 3, mRNA.	59					BMP signaling pathway|DNA repair|apoptosis|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		TGAAGGGGTAGTCTGTAGGAA	0.328000														62			38		0	0	0.003214	0	0
WASF3	10810	broad.mit.edu	37	13	27256917	27256917	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:27256917C>T	uc001uqv.3	+	8	1382	c.1157C>T	c.(1156-1158)cCc>cTc	p.P386L	WASF3_uc001uqw.3_Missense_Mutation_p.P383L	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	386					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			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)		CCTCACCCACCCTCCACCGGG	0.692000														53			15		0	0	0.004007	0	0
NRP1	8829	broad.mit.edu	37	10	33491907	33491907	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:33491907C>T	uc001iwx.4	-	10	2299	c.1776G>A	c.(1774-1776)ccG>ccA	p.P592P	NRP1_uc001iwv.4_Silent_p.P592P|NRP1_uc001iwy.4_Silent_p.P592P|NRP1_uc009xlz.3_Silent_p.P592P|NRP1_uc001iww.4_Silent_p.P411P|NRP1_uc001iwz.2_Silent_p.P592P|NRP1_uc001ixa.2_Intron|NRP1_uc001ixb.2_Silent_p.P592P	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	592					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)	TGGGAGTGGTCGGTCCAGCTG	0.502000														58			15		0	0	0.003163	0	0
BCOR	54880	broad.mit.edu	37	X	39930940	39930940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:39930940C>T	uc004den.4	-	4	3293	c.3001G>A	c.(3001-3003)Gaa>Aaa	p.E1001K	BCOR_uc004dep.4_Missense_Mutation_p.E1001K|BCOR_uc004deo.4_Intron|BCOR_uc004dem.4_Missense_Mutation_p.E1001K	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1001					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			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						TGTAATCCTTCCATCTATGTA	0.303000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							26			10		0	0	0.000978	0	0
LMOD1	25802	broad.mit.edu	37	1	201868629	201868629	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:201868629C>T	uc021phl.1	-	1	1760	c.1512G>A	c.(1510-1512)gtG>gtA	p.V504V	LMOD1_uc021phm.1_Silent_p.V504V|LMOD1_uc010ppu.2_Silent_p.V453V	NM_012134	NP_036266	P29536	LMOD1_HUMAN	Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA.	504					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						AGCCCTTAGCCACGGCCCCGG	0.592000														53			19		0	0	0.007413	0	0
INO80	54617	broad.mit.edu	37	15	41377662	41377662	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:41377662G>A	uc001zni.3	-	6	991	c.778C>T	c.(778-780)Ccc>Tcc	p.P260S	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	260	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				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						GTGCCAGGGGGAGGTGCATCG	0.463000														42			28		0	0	0.008361	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15116339	15116339	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:15116339G>A	uc003bzm.1	-	13	1919	c.1305C>T	c.(1303-1305)gcC>gcT	p.A435A	ZFYVE20_uc010hek.1_Silent_p.A435A	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.	435	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						TTCTCAAGGGGGCAGGGCCCC	0.637000														51			19		0	0	0.008871	0	0
TMEM168	64418	broad.mit.edu	37	7	112423807	112423807	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:112423807C>T	uc003vgn.3	-	1	1466	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q	TMEM168_uc010lju.3_Silent_p.Q358Q|TMEM168_uc011kmr.2_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	Homo sapiens transmembrane protein 168 (TMEM168), mRNA.	358						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						AGAACACCAACTGCTCTGAAA	0.408000														152			42		0	0	0.006230	0	0
TMEM66	51669	broad.mit.edu	37	8	29923609	29923609	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:29923609G>A	uc003xhs.3	-	4	1073	c.889C>T	c.(889-891)Ccc>Tcc	p.P297S	MIR548O2_uc022atm.1_Intron|TMEM66_uc003xhv.3_Missense_Mutation_p.P125S	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN	Homo sapiens transmembrane protein 66 (TMEM66), mRNA.	297						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		GGGTAGGAGGGAGGATAGGAC	0.478000														59			18		0	0	0.006122	0	0
ZNF841	284371	broad.mit.edu	37	19	52569316	52569316	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:52569316T>A	uc010ydh.1	-	6	2279	c.1819A>T	c.(1819-1821)Att>Ttt	p.I607F	ZNF841_uc002pyl.1_Missense_Mutation_p.I491F	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	Homo sapiens zinc finger protein 841 (ZNF841), mRNA.	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						CCACTGTCAATGAAGACCTTG	0.438000														78			37		0	0	0.006230	0	0
ITGB4	3691	broad.mit.edu	37	17	73727398	73727398	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:73727398G>A	uc002jpg.3	+	9	1351	c.1164G>A	c.(1162-1164)aaG>aaA	p.K388K	ITGB4_uc002jph.3_Silent_p.K388K|ITGB4_uc010dgo.3_Silent_p.K388K|ITGB4_uc002jpi.4_Silent_p.K388K|ITGB4_uc010dgp.1_Silent_p.K388K|ITGB4_uc002jpj.3_Silent_p.K388K|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	388					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)			TCACCTCCAAGATGTTCCAGA	0.637000														66			22		0	0	0.003330	0	0
PPP1R36	145376	broad.mit.edu	37	14	65054985	65054985	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:65054985G>A	uc001xhl.1	+	10	1150	c.1054G>A	c.(1054-1056)Gga>Aga	p.G352R	PPP1R36_uc001xhm.1_Missense_Mutation_p.G82R	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 36 (PPP1R36), mRNA.	352																	AAAGCATGTGGGAACTCTGGA	0.527000														47			28		0	0	0.007291	0	0
MAP4K1	11184	broad.mit.edu	37	19	39108532	39108533	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:39108532_39108533CC>TT	uc002oix.1	-	0	111_112	c.3_4GG>AA	c.(1-6)atggac>atAAac	p.1_2MD>IN	MAP4K1_uc002oiy.1_Missense_Mutation_p.1_2MD>IN|EIF3K_uc010xuh.2_5'Flank|EIF3K_uc002oiz.1_5'Flank	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	1					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)			TCCACGACGTCCATCCCTGGGG	0.653000														47			27		0	0	0.004672	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472390	47472390	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:47472390C>T	uc001rpm.3	-	2	1051	c.396G>A	c.(394-396)gtG>gtA	p.V132V	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Silent_p.V132V|AMIGO2_uc001rpl.3_Silent_p.V132V|AMIGO2_uc021qxg.1_Silent_p.V132V	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	132					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)					CAGCATTTTTCACCGTCTTCA	0.433000														45			25		0	0	0.003330	0	0
ASB16	92591	broad.mit.edu	37	17	42249505	42249505	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:42249505C>T	uc002ifl.1	+	1	477	c.393C>T	c.(391-393)atC>atT	p.I131I	ASB16_uc002ifm.1_Non-coding_Transcript	NM_080863	NP_543139	Q96NS5	ASB16_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 16 (ASB16), mRNA.	131					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GACACCTGATCCGGCAGGGAG	0.652000														58			33		0	0	0.002836	0	0
FCER1A	2205	broad.mit.edu	37	1	159273776	159273776	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:159273776G>A	uc001ftq.3	+	3	232	c.135G>A	c.(133-135)gaG>gaA	p.E45E		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	45	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)	TTAAAGGAGAGAATGTGACTC	0.368000														34			48		0	0	0.003610	0	0
SI	6476	broad.mit.edu	37	3	164786619	164786619	+	Splice_Site	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:164786619C>T	uc003fei.3	-	5	437	c.374_splice	c.e5-1	p.G125_splice		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	125	Isomaltase.				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)	GGCTTCAACTCCTTAAAGAAT	0.303000										HNSCC(35;0.089)				60			15		0	0	0.003163	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449092	104449092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:104449092C>T	uc004bbp.2	-	1	1691	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	GRIN3A_uc004bbq.1_Missense_Mutation_p.E364K	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	364					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)	GTCCTCAGTTCCTCCACATTC	0.512000														21			9		0	0	0.006214	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858383	9858383	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:9858383C>T	uc010uym.2	-	13	3328	c.3018G>A	c.(3016-3018)gcG>gcA	p.A1006A	GRIN2A_uc002czo.4_Silent_p.A1006A|GRIN2A_uc010uyn.2_Silent_p.A849A|GRIN2A_uc002czr.4_Silent_p.A1006A	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1006					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.A1006A(2)		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)	GTCTAGAGTTCGCTTTGGATT	0.507000														66			34		0	0	0.002836	0	0
ARSI	340075	broad.mit.edu	37	5	149676816	149676816	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:149676816G>A	uc003lrv.2	-	1	2260	c.1671C>T	c.(1669-1671)ttC>ttT	p.F557F		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	Homo sapiens arylsulfatase family, member I (ARSI), mRNA.	557						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)			TGAGTTTACGGAAAAAGGATC	0.532000														76			33		0	0	0.003271	0	0
TFEC	22797	broad.mit.edu	37	7	115580778	115580778	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:115580778C>T	uc003vhj.2	-	7	1124	c.871G>A	c.(871-873)Gat>Aat	p.D291N	TFEC_uc003vhm.2_Missense_Mutation_p.D224N|TFEC_uc003vhk.2_Missense_Mutation_p.D262N|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.	291	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.D291H(2)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			AATGATAAATCTGTGAAGTAT	0.433000														110			30		0	0	0.008361	0	0
SLC34A2	10568	broad.mit.edu	37	4	25677928	25677928	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:25677928G>A	uc003grr.3	+	12	1711	c.1630G>A	c.(1630-1632)Gtg>Atg	p.V544M	SLC34A2_uc003grs.3_Missense_Mutation_p.V543M|SLC34A2_uc010iev.3_Missense_Mutation_p.V543M	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	544					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.T543T(1)	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)				CCCGCTGACGGTGTTTGGCCT	0.607000			T	ROS1	NSCLC									98			59		0	0	0.003610	0	0
TRIM7	81786	broad.mit.edu	37	5	180622589	180622589	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:180622589C>T	uc003mmz.1	-	6	1180	c.1113G>A	c.(1111-1113)caG>caA	p.Q371Q	TRIM7_uc003mmv.1_Silent_p.Q189Q|TRIM7_uc003mmw.1_Silent_p.Q163Q|TRIM7_uc003mmy.1_Silent_p.Q163Q|TRIM7_uc003mmx.1_Silent_p.Q163Q	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA.	371	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)		TGGGCAGGTCCTGGGCCCGCT	0.682000														72			19		0	0	0.010504	0	0
KLRK1	22914	broad.mit.edu	37	12	10532318	10532318	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:10532318C>T	uc009zhj.3	-	3	399	c.222G>A	c.(220-222)tgG>tgA	p.W74*	AK096314_uc001qya.1_Non-coding_Transcript|KLRK1_uc001qyb.3_Non-coding_Transcript|KLRK1_uc001qyc.3_Nonsense_Mutation_p.W74*|KLRK1_uc009zhk.3_Nonsense_Mutation_p.W74*|KLRK1_uc001qyd.3_Nonsense_Mutation_p.W74*	NM_007360	NP_001186734	P26718	NKG2D_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily K, member 1 (KLRK1), mRNA.	74					T cell costimulation|natural killer cell activation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						ATACAGCACTCCATATTGTTA	0.338000														31			9		0	0	0.008291	0	0
SLC12A5	57468	broad.mit.edu	37	20	44664487	44664487	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:44664487C>T	uc010zxl.1	+	3	496	c.420C>T	c.(418-420)ttC>ttT	p.F140F	SLC12A5_uc002xra.2_Silent_p.F117F|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Silent_p.F117F	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	140					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)	TCATCCTCTTCCTGCGGCTCA	0.612000														32			11		0	0	0.008291	0	0
USP19	10869	broad.mit.edu	37	3	49150050	49150050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:49150050G>A	uc003cwd.2	-	16	2528	c.2209C>T	c.(2209-2211)Cgt>Tgt	p.R737C	USP19_uc003cwa.3_Missense_Mutation_p.R545C|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Missense_Mutation_p.R840C|USP19_uc011bcg.2_Missense_Mutation_p.R828C|USP19_uc003cwc.2_Missense_Mutation_p.R495C|USP19_uc011bch.2_Missense_Mutation_p.R838C	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	737					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)		CGATGAAAACGATTCTTAATT	0.522000														42			21		0	0	0.001882	0	0
AK094599	0	broad.mit.edu	37	2	133070520	133070520	+	RNA	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:133070520C>T	uc002ttk.1	+	2		c.174C>T								Homo sapiens cDNA FLJ37280 fis, clone BRAMY2012881.																		CCAGATAAACCTGTACCAAGA	0.448000														113			11		0	0	0.010504	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141970	133141970	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:133141970G>A	uc003ytj.3	-	14	2383	c.2158C>T	c.(2158-2160)Ctg>Ttg	p.L720L	KCNQ3_uc003yti.3_Silent_p.L600L|KCNQ3_uc010mdt.3_Silent_p.L708L	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	720					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)			CCTCGGGGCAGGTTCACAGGG	0.562000														33			23		0	0	0.001882	0	0
NPNT	255743	broad.mit.edu	37	4	106861357	106861357	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:106861357C>T	uc011cfd.2	+	6	934	c.721C>T	c.(721-723)Caa>Taa	p.Q241*	NPNT_uc011cfc.2_Nonsense_Mutation_p.Q228*|NPNT_uc011cfe.2_Nonsense_Mutation_p.Q241*|NPNT_uc003hya.3_Nonsense_Mutation_p.Q211*|NPNT_uc011cff.2_Nonsense_Mutation_p.Q211*	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	211	EGF-like 5; calcium-binding (Potential).				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)		AGGCAAATATCAATGTCATGG	0.443000														57			19		0	0	0.008871	0	0
OR51A2	401667	broad.mit.edu	37	11	4976460	4976461	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:4976460_4976461GG>AA	uc010qyt.2	-	0	483_484	c.483_484CC>TT	c.(481-486)ttccct>ttTTct	p.P162S		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P162H(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGTGAAAGGGAAGGGAAGAA	0.436000														48			34		0	0	0.004672	0	0
REEP5	7905	broad.mit.edu	37	5	112222717	112222717	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:112222717T>A	uc003kqe.1	-	3	659	c.515A>T	c.(514-516)aAa>aTa	p.K172I	SRP19_uc011cvu.2_Intron|REEP5_uc011cvw.1_Missense_Mutation_p.K145I|REEP5_uc011cvx.1_Non-coding_Transcript|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Non-coding_Transcript	NM_005669	NP_005660	Q00765	REEP5_HUMAN	Homo sapiens receptor accessory protein 5 (REEP5), mRNA.	172						integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		CTTACCTTCTTTAGTGATGGC	0.498000														62			27		0	0	0.006320	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128809	126128809	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:126128809C>A	uc001uhe.1	+	5	1618	c.1610C>A	c.(1609-1611)cCg>cAg	p.P537Q	TMEM132B_uc001uhf.1_Missense_Mutation_p.P49Q	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	537						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)		TGGAGGATCCCGGTTGCTGCC	0.572000														28			14		6.31663e-08	6.40154e-08	0.003163	1	0
PAMR1	25891	broad.mit.edu	37	11	35456111	35456111	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:35456111C>T	uc001mwf.3	-	10	1669	c.1626G>A	c.(1624-1626)ggG>ggA	p.G542G	PAMR1_uc001mwg.3_Silent_p.G525G|PAMR1_uc010rew.2_Silent_p.G414G|PAMR1_uc010rex.2_Silent_p.G485G	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	525	Peptidase S1.			Q -> R (in Ref. 3; CAB43317/CAI46203/ CAE45808).	proteolysis	extracellular region	serine-type endopeptidase activity	p.L541F(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GGTAGAATTTCCCCAAAACAA	0.532000														34			29		0	0	0.002836	0	0
TMEM100	55273	broad.mit.edu	37	17	53798339	53798339	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:53798339G>A	uc002iuj.4	-	1	404	c.93C>T	c.(91-93)atC>atT	p.I31I	TMEM100_uc002iuk.4_Silent_p.I31I|TMEM100_uc021uai.1_Silent_p.I31I	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	Homo sapiens transmembrane protein 100 (TMEM100), transcript variant 2, mRNA.	31						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						GGACTGTGGTGATCACAACTT	0.537000														98			58		0	0	0.003610	0	0
DYSF	8291	broad.mit.edu	37	2	71825771	71825771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:71825771G>A	uc010fen.3	+	32	3793	c.3652G>A	c.(3652-3654)Gac>Aac	p.D1218N	DYSF_uc010fei.3_Missense_Mutation_p.D1217N|DYSF_uc010feh.3_Missense_Mutation_p.D1186N|DYSF_uc002sig.4_Missense_Mutation_p.D1186N|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.D1231N|DYSF_uc010fee.3_Missense_Mutation_p.D1200N|DYSF_uc010fef.3_Missense_Mutation_p.D1217N|DYSF_uc002sie.3_Missense_Mutation_p.D1200N|DYSF_uc010feo.3_Missense_Mutation_p.D1232N|DYSF_uc010fej.3_Missense_Mutation_p.D1187N|DYSF_uc010fel.3_Missense_Mutation_p.D1187N|DYSF_uc010fem.3_Missense_Mutation_p.D1201N|DYSF_uc002sif.3_Missense_Mutation_p.D1201N|DYSF_uc010fek.3_Missense_Mutation_p.D1218N|DYSF_uc010yqy.2_Missense_Mutation_p.D81N	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1200	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						CCCCACCTGGGACCAGACGCT	0.592000														38			22		0	0	0.002780	0	0
HDX	139324	broad.mit.edu	37	X	83591836	83591836	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:83591836G>A	uc011mqv.2	-	7	1960	c.1713C>T	c.(1711-1713)gaC>gaT	p.D571D	HDX_uc004eel.2_Silent_p.D513D|HDX_uc004eek.2_Silent_p.D571D	NM_001177479	NP_001170949	Q7Z353	HDX_HUMAN	Homo sapiens highly divergent homeobox (HDX), transcript variant 1, mRNA.	571						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						CTGCATGGTGGTCCTCTTCCT	0.368000														22			9		0	0	0.006214	0	0
PTPN18	26469	broad.mit.edu	37	2	131130753	131130753	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:131130753C>T	uc002trc.3	+	14	1440	c.1339C>T	c.(1339-1341)Ccg>Tcg	p.P447S	PTPN18_uc002trb.3_Missense_Mutation_p.P340S|PTPN18_uc002tre.3_Missense_Mutation_p.P98S	NM_014369	NP_055184	Q99952	PTN18_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA.	447						cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					CATTGGGAGGCCGAAGGGTCC	0.612000														6			8		0	0	0.003080	0	0
PPARG	5468	broad.mit.edu	37	3	12458487	12458487	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:12458487C>T	uc003bwx.3	+	5	1195	c.1104C>T	c.(1102-1104)ctC>ctT	p.L368L	PPARG_uc003bwr.3_Silent_p.L340L|PPARG_uc003bws.3_Silent_p.L340L|PPARG_uc003bwu.3_Silent_p.L340L|PPARG_uc003bwv.3_Intron|PPARG_uc010hea.1_Non-coding_Transcript	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	368	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|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|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	ATGGGGTTCTCATATCCGAGG	0.443000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""							360			149		0	0	0.003610	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869895	151869895	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:151869895C>T	uc022chf.1	+	0	585	c.585C>T	c.(583-585)atC>atT	p.I195I	MAGEA6_uc004ffq.1_Silent_p.I195I|MAGEA6_uc004ffr.1_Silent_p.I195I	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	195	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ACAATCAGATCATGCCCAAGA	0.552000														148			56		0	0	0.003610	0	0
POLG	5428	broad.mit.edu	37	15	89870213	89870213	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:89870213C>T	uc002bns.4	-	7	1797	c.1515G>A	c.(1513-1515)aaG>aaA	p.K505K	POLG_uc002bnr.4_Silent_p.K505K	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	505					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)			TGGCTGGTTCCTTCTTCACCT	0.572000								DNA polymerases (catalytic subunits)						148			66		0	0	0.003610	0	0
SLC39A10	57181	broad.mit.edu	37	2	196545581	196545581	+	Missense_Mutation	SNP	T	C	C	rs148613196	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:196545581T>C	uc002utg.4	+	1	1029	c.815T>C	c.(814-816)gTa>gCa	p.V272A	SLC39A10_uc002uth.4_Missense_Mutation_p.V272A|SLC39A10_uc010zgp.2_Intron	NM_001127257	NP_065075	Q9ULF5	S39AA_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA.	272					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.R271R(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			CCTGATCGTGTACATAACCCA	0.423000														40			12		0	0	0.001368	0	0
AQP2	359	broad.mit.edu	37	12	50349313	50349313	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:50349313G>A	uc001rvn.3	+	3	828	c.738G>A	c.(736-738)tgG>tgA	p.W246*		NM_000486	NP_000477	P41181	AQP2_HUMAN	Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA.	246					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						ACACCGATTGGGAGGAGCGCG	0.692000														14			12		0	0	0.001855	0	0
C6orf222	389384	broad.mit.edu	37	6	36298397	36298397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:36298397G>A	uc003oly.3	-	1	249	c.71C>T	c.(70-72)gCc>gTc	p.A24V		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	24								p.A24A(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TTTCCCGGGGGCCTGCGGCCT	0.637000														32			50		0	0	0.003610	0	0
TRIML2	205860	broad.mit.edu	37	4	189013014	189013014	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:189013014C>T	uc011cle.1	-	7	1124	c.902G>A	c.(901-903)gGg>gAg	p.G301E	TRIML2_uc003izj.1_Missense_Mutation_p.G54E|TRIML2_uc003izk.1_Missense_Mutation_p.G34E|TRIML2_uc003izl.2_Missense_Mutation_p.G226E	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	226	B30.2/SPRY.						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)		ATCCTGCTGCCCATGTCTCAA	0.532000														67			34		0	0	0.002836	0	0
GHR	2690	broad.mit.edu	37	5	42718672	42718672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:42718672G>A	uc021xxv.1	+	9	1221	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	GHR_uc003jmt.3_Missense_Mutation_p.E355K|GHR_uc003jmu.3_Missense_Mutation_p.E355K|GHR_uc003jmv.2_Missense_Mutation_p.E355K|GHR_uc021xxw.1_Missense_Mutation_p.E355K|GHR_uc021xxx.1_Missense_Mutation_p.E355K|GHR_uc021xxy.1_Missense_Mutation_p.E355K|GHR_uc021xxz.1_Missense_Mutation_p.E355K|GHR_uc021xya.1_Missense_Mutation_p.E355K|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.E168K|GHR_uc021xyd.1_Missense_Mutation_p.E333K	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	355					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)	TGAGCCAGATGAAAAGACTGA	0.433000														67			34		0	0	0.002445	0	0
ZNF182	7569	broad.mit.edu	37	X	47842375	47842375	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:47842375C>T	uc004dir.3	-	5	609	c.263G>A	c.(262-264)gGa>gAa	p.G88E	ZNF182_uc004dis.3_Missense_Mutation_p.G69E|ZNF182_uc004dit.3_Missense_Mutation_p.G88E	NM_006962	NP_008893	P17025	ZN182_HUMAN	Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.	88	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TGGGATTTTTCCTTCTGCCGG	0.483000														45			17		0	0	0.007413	0	0
SNX18	112574	broad.mit.edu	37	5	53839021	53839021	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:53839021A>G	uc003jpi.4	+	1	1824	c.1634A>G	c.(1633-1635)aAa>aGa	p.K545R	SNX18_uc011cqg.2_3'UTR	NM_001102575	NP_001096045	Q96RF0	SNX18_HUMAN	Homo sapiens sorting nexin 18 (SNX18), transcript variant 1, mRNA.	0	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)				GCTCTTACCAAAGTCAAGGAG	0.398000														22			11		0	0	0.000978	0	0
SLC4A2	6522	broad.mit.edu	37	7	150771818	150771818	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:150771818C>T	uc022apz.1	+	18	3977	c.2937C>T	c.(2935-2937)gtC>gtT	p.V979V	SLC4A2_uc003wit.4_Silent_p.V979V|SLC4A2_uc011kve.2_Silent_p.V970V|SLC4A2_uc003wiu.4_Silent_p.V965V	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	979	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGGCTGGGTCATCAACCCCC	0.567000														117			37		0	0	0.004289	0	0
LAS1L	81887	broad.mit.edu	37	X	64738224	64738224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:64738224G>A	uc004dwa.2	-	11	1661	c.1570C>T	c.(1570-1572)Ccc>Tcc	p.P524S	LAS1L_uc004dwc.2_Missense_Mutation_p.P507S|LAS1L_uc004dwd.2_Missense_Mutation_p.P465S|LAS1L_uc004dvz.2_Missense_Mutation_p.P37S|LAS1L_uc004dvy.1_Missense_Mutation_p.P37S	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA.	524						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TTCCCAATGGGGGAGGCCTCA	0.577000														86			47		0	0	0.003610	0	0
ANKS1B	56899	broad.mit.edu	37	12	99548100	99548100	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:99548100C>T	uc001tge.2	-	14	2910	c.2493G>A	c.(2491-2493)ctG>ctA	p.L831L	ANKS1B_uc001tgf.2_Silent_p.L407L|ANKS1B_uc001tgk.3_Silent_p.L128L|ANKS1B_uc001tgd.2_Silent_p.L57L|ANKS1B_uc009ztr.3_Silent_p.L57L|ANKS1B_uc001tgj.3_Silent_p.L57L|ANKS1B_uc001tgi.3_Silent_p.L57L|ANKS1B_uc009zts.2_Silent_p.L57L|ANKS1B_uc001tgg.4_5'UTR|ANKS1B_uc010svg.2_Silent_p.L26L	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	831	SAM 1.					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)		CATTAGCCATCAGGTGGTTCT	0.478000														41			15		0	0	0.004007	0	0
ADARB2	105	broad.mit.edu	37	10	1279772	1279772	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:1279772G>A	uc009xhq.3	-	5	1703	c.1377C>T	c.(1375-1377)gaC>gaT	p.D459D		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	459	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)		ATCGCTCTGAGTCCTCGCGCC	0.522000														37			17		0	0	0.007413	0	0
DNAJB11	51726	broad.mit.edu	37	3	186293723	186293723	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:186293723C>T	uc003fqi.3	+	2	1055	c.320C>T	c.(319-321)tCa>tTa	p.S107L		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 11 (DNAJB11), mRNA.	107					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)		GACATTTTTTCACAGTGAGTA	0.398000														31			15		0	0	0.003163	0	0
MYOM3	127294	broad.mit.edu	37	1	24402672	24402672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:24402672G>A	uc001bin.4	-	20	2841	c.2678C>T	c.(2677-2679)cCc>cTc	p.P893L	MYOM3_uc001bim.4_Missense_Mutation_p.P550L|MYOM3_uc001bio.3_Missense_Mutation_p.P893L	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	893	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)		CAGGAGCACGGGATCAGTGGG	0.617000														53			18		0	0	0.004990	0	0
GUCY2C	2984	broad.mit.edu	37	12	14774015	14774015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:14774015G>A	uc001rcd.3	-	22	2874	c.2737C>T	c.(2737-2739)Cct>Tct	p.P913S		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	913	Guanylate cyclase.				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						GGGAGGCCAGGAAGATGCTCC	0.468000														35			15		0	0	0.002450	0	0
CACNA1E	777	broad.mit.edu	37	1	181767737	181767737	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:181767737G>A	uc009wxt.3	+	47	6904	c.6709G>A	c.(6709-6711)Gaa>Aaa	p.E2237K	CACNA1E_uc001gow.3_Missense_Mutation_p.E2194K|CACNA1E_uc009wxs.3_Missense_Mutation_p.E2175K	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2237					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						GGCCCTGCACGAAGACTCCCA	0.622000														24			17		0	0	0.004990	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814063	106814063	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:106814063C>T	uc003ymd.3	+	7	1776	c.1753C>T	c.(1753-1755)Cct>Tct	p.P585S	ZFPM2_uc011lhs.2_Missense_Mutation_p.P316S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	585					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	p.P585S(2)		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)			CCCAGAGTTCCCTAGTGTGTC	0.443000														118			52		0	0	0.003610	0	0
APAF1	317	broad.mit.edu	37	12	99106141	99106141	+	Silent	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:99106141T>C	uc001tfz.3	+	20	3463	c.2886T>C	c.(2884-2886)gcT>gcC	p.A962A	APAF1_uc001tfy.3_Silent_p.A951A|APAF1_uc001tga.3_Silent_p.A908A|APAF1_uc001tgb.3_Silent_p.A919A|APAF1_uc001tgc.3_Intron|APAF1_uc009zto.3_Silent_p.A328A	NM_181861	NP_863651	O14727	APAF_HUMAN	Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	962					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)	TGACTGAAGCTCAAGTTAGCT	0.378000														25			8		0	0	0.006214	0	0
MXRA5	25878	broad.mit.edu	37	X	3242075	3242075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:3242075C>T	uc004crg.4	-	4	1808	c.1651G>A	c.(1651-1653)Ggc>Agc	p.G551S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	551	Ig-like C2-type 1.					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)				TGGTACAAGCCTGAGTCAGAT	0.537000														31			8		0	0	0.003080	0	0
CSMD2	114784	broad.mit.edu	37	1	34038265	34038265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:34038265G>A	uc001bxm.1	-	49	7780	c.7603C>T	c.(7603-7605)Ccc>Tcc	p.P2535S	CSMD2_uc001bxn.1_Missense_Mutation_p.P2537S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2537	Sushi 15.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCATTCTTGGGGGCCTCAGGA	0.488000														48			21		0	0	0.001882	0	0
CNTN5	53942	broad.mit.edu	37	11	100226884	100226884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:100226884C>T	uc001pga.3	+	24	3740	c.3236C>T	c.(3235-3237)tCt>tTt	p.S1079F	CNTN5_uc021qpb.1_Missense_Mutation_p.S1079F|CNTN5_uc021qpc.1_Missense_Mutation_p.S1005F|CNTN5_uc010ruk.2_Missense_Mutation_p.S350F	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	1079			S -> T (in dbSNP:rs1216183).		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)		ACCCTTCACTCTCTCTCCACA	0.408000														5			4		0	0	0.000602	0	0
TOM1	10043	broad.mit.edu	37	22	35719851	35719851	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:35719851C>T	uc003ann.3	+	5	717	c.592C>T	c.(592-594)Ctg>Ttg	p.L198L	TOM1_uc011ami.2_Silent_p.L165L|TOM1_uc003anp.3_Silent_p.L198L|TOM1_uc011aml.2_Silent_p.L153L|TOM1_uc011amk.2_Silent_p.L160L|TOM1_uc003ano.3_Non-coding_Transcript|TOM1_uc011amj.2_Silent_p.L41L	NM_005488	NP_005479	O60784	TOM1_HUMAN	Homo sapiens target of myb1 (chicken) (TOM1), transcript variant 1, mRNA.	198					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						TGCTGCCCCTCTGCCCGCCCC	0.617000														49			26		0	0	0.004656	0	0
MPL	4352	broad.mit.edu	37	1	43805033	43805033	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:43805033C>T	uc001ciw.3	+	3	528	c.483C>T	c.(481-483)atC>atT	p.I161I	MPL_uc001civ.3_Silent_p.I161I|MPL_uc009vwr.3_Silent_p.I154I	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	161	Fibronectin type-III 1.				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCCAGAAATCAGTGATTTCC	0.592000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia							36			15		0	0	0.003163	0	0
MBTPS2	51360	broad.mit.edu	37	X	21871589	21871589	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:21871589C>T	uc004dae.3	+	4	835	c.638C>T	c.(637-639)tCg>tTg	p.S213L	MBTPS2_uc010nfr.3_5'UTR|MBTPS2_uc004dab.2_Missense_Mutation_p.S213L|YY2_uc011mjp.2_5'Flank	NM_015884	NP_056968	O43462	MBTP2_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 2 (MBTPS2), mRNA.	213					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CAACTTATATCGCCAGTCCAG	0.353000														99			43		0	0	0.003610	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396184	38396184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:38396184C>T	uc022bgy.1	+	0	439	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	ALDH1B1_uc004aay.3_Missense_Mutation_p.R147W	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	147					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)	CAAGGTGTATCGGTACTTTGC	0.557000														39			37		0	0	0.003271	0	0
RAB34	83871	broad.mit.edu	37	17	27043983	27043983	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:27043983C>T	uc010was.1	-	2	256	c.255G>A	c.(253-255)ggG>ggA	p.G85G	RAB34_uc002hce.2_Silent_p.G28G|RAB34_uc002hcg.2_Silent_p.G28G|RAB34_uc010wat.1_Silent_p.G85G|RAB34_uc002hch.2_Silent_p.G28G|RAB34_uc010wau.1_Silent_p.G28G|RAB34_uc010wav.1_Silent_p.G85G	NM_001144943	NP_114140	Q9BZG1	RAB34_HUMAN	Homo sapiens RAB34, member RAS oncogene family (RAB34), transcript variant 8, mRNA.	28					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	p.G85G(1)|p.G28G(1)		endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					AGTCTTTGTGCCCGTGCAAAG	0.637000														96			4		0	0	0.009096	0	0
BOD1L1	259282	broad.mit.edu	37	4	13621619	13621619	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:13621619G>A	uc003gmz.1	-	1	433	c.316C>T	c.(316-318)Ccg>Tcg	p.P106S	BOD1L1_uc010idr.1_5'UTR|BOD1L1_uc010ids.1_Non-coding_Transcript	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	106							DNA binding										TTGAGATGCGGACTCCATGTG	0.418000														20			6		0	0	0.001168	0	0
THBS4	7060	broad.mit.edu	37	5	79374926	79374926	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:79374926C>T	uc021yaw.1	+	18	2547	c.2356C>T	c.(2356-2358)Cat>Tat	p.H786Y	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	786	TSP C-terminal.				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)		AGGGACCTTCCATGTGAATAC	0.453000														64			25		0	0	0.008361	0	0
C1orf216	127703	broad.mit.edu	37	1	36181741	36181741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:36181741G>A	uc001bzh.1	-	1	670	c.182C>T	c.(181-183)tCc>tTc	p.S61F	C1orf216_uc021oli.1_Missense_Mutation_p.S61F	NM_152374	NP_689587	Q8TAB5	CA216_HUMAN	Homo sapiens chromosome 1 open reading frame 216 (C1orf216), mRNA.	61										kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TGACTCAGAGGAGCTCCTCCT	0.602000											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		63			24		0	0	0.006320	0	0
ITIH5	80760	broad.mit.edu	37	10	7618460	7618460	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:7618460G>A	uc021pmv.1	-	9	2040	c.1934C>T	c.(1933-1935)cCc>cTc	p.P645L	ITIH5_uc021pmu.1_Missense_Mutation_p.P431L|ITIH5_uc001ijr.2_Missense_Mutation_p.P645L	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	645					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						CACCGGTTCGGGTCCCATGGC	0.672000														26			9		0	0	0.006214	0	0
KIF2B	84643	broad.mit.edu	37	17	51900463	51900463	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:51900463C>T	uc002iua.2	+	0	225	c.69C>T	c.(67-69)ttC>ttT	p.F23F		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	23					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						AGCCACATTTCGGAGACATCC	0.562000														38			15		0	0	0.003163	0	0
DNAJB2	3300	broad.mit.edu	37	2	220146473	220146473	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:220146473G>T	uc002vkx.1	+	3	446	c.209G>T	c.(208-210)cGg>cTg	p.R70L	DNAJB2_uc010zla.1_Missense_Mutation_p.R70L|DNAJB2_uc002vkw.1_Missense_Mutation_p.R70L|DNAJB2_uc010zlb.1_5'Flank	NM_006736	NP_006727	P25686	DNJB2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 2 (DNAJB2), transcript variant 2, mRNA.	70	J.				ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	Hsp70 protein binding|heat shock protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCTATGGCCGGGAAGGGCTG	0.602000														56			18		1.99824e-07	2.02122e-07	0.004990	1	0
GPR112	139378	broad.mit.edu	37	X	135428072	135428072	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:135428072T>A	uc004ezu.1	+	5	2498	c.2207T>A	c.(2206-2208)tTt>tAt	p.F736Y	GPR112_uc010nsb.1_Missense_Mutation_p.F531Y|GPR112_uc010nsc.1_Missense_Mutation_p.F503Y	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	736					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F736Y(2)		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)					TCACCATGGTTTGCTAATTTC	0.393000														56			24		0	0	0.002780	0	0
ZNF346	23567	broad.mit.edu	37	5	176471521	176471521	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:176471521C>T	uc003mfk.1	+	4	622	c.579C>T	c.(577-579)tcC>tcT	p.S193S	ZNF346_uc003mfi.3_Silent_p.S168S|ZNF346_uc011dfr.2_Silent_p.S136S|ZNF346_uc011dfs.2_Intron|ZNF346_uc011dft.1_Intron	NM_012279	NP_036411	Q9UL40	ZN346_HUMAN	Homo sapiens zinc finger protein 346 (ZNF346), mRNA.	168						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)			AGCAGCAGTCCACTAAGGTGG	0.562000														82			21		0	0	0.002299	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33751564	33751564	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:33751564G>C	uc003jia.1	-	2	742	c.579C>G	c.(577-579)atC>atG	p.I193M	ADAMTS12_uc010iuq.1_Missense_Mutation_p.I193M|ADAMTS12_uc003jib.1_Missense_Mutation_p.I193M	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	193					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						TCCTGTAAACGATGTGCGGGT	0.458000										HNSCC(64;0.19)				85			24		0	0	0.002780	0	0
OR10A3	26496	broad.mit.edu	37	11	7960409	7960409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:7960409C>T	uc010rbi.2	-	0	659	c.659G>A	c.(658-660)cGa>cAa	p.R220Q		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R220*(2)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAACAGAACTCGAATGTAAGA	0.448000														10			10		0	0	0.006214	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43530788	43530788	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:43530788G>T	uc002ija.3	-	6	2600	c.2430C>A	c.(2428-2430)ttC>ttA	p.F810L	PLEKHM1_uc010wjm.2_Missense_Mutation_p.F782L|PLEKHM1_uc002ijb.3_Missense_Mutation_p.F285L|PLEKHM1_uc010wjn.1_Missense_Mutation_p.F759L|PLEKHM1_uc002ijc.3_Missense_Mutation_p.F264L	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.	810					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)					ACTGCAGCAGGAAGCCATTCT	0.607000														21			10		2.80697e-09	2.85155e-09	0.000978	1	0
PDE1A	5136	broad.mit.edu	37	2	183095762	183095762	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:183095762C>T	uc002uos.3	-	5	646	c.562G>A	c.(562-564)Gat>Aat	p.D188N	PDE1A_uc010zfp.1_Missense_Mutation_p.D84N|PDE1A_uc002uoq.1_Missense_Mutation_p.D188N|PDE1A_uc010zfq.1_Missense_Mutation_p.D188N|PDE1A_uc002uor.3_Missense_Mutation_p.D172N|PDE1A_uc002uou.3_Missense_Mutation_p.D154N	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	188					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	p.D188N(3)		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)			TTGATAAGATCATATCTGGTA	0.338000														65			13		0	0	0.003163	0	0
NCKAP5	344148	broad.mit.edu	37	2	133541515	133541515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:133541515C>T	uc002ttp.3	-	13	3243	c.2869G>A	c.(2869-2871)Gaa>Aaa	p.E957K	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	957							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						ACCCTGGTTTCGGACTTGGTG	0.567000														10			8		0	0	0.003080	0	0
KCNB2	9312	broad.mit.edu	37	8	73849561	73849561	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:73849561G>A	uc003xzb.3	+	2	2559	c.1971G>A	c.(1969-1971)gaG>gaA	p.E657E		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	657			E -> G (in dbSNP:rs16938507).		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)			TATCCAGAGAGAAAGGACCTG	0.567000														51			18		0	0	0.007413	0	0
FBN2	2201	broad.mit.edu	37	5	127645087	127645087	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:127645087C>T	uc003kuu.3	-	40	5644	c.5205G>A	c.(5203-5205)atG>atA	p.M1735I		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1735					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)		AGCTTTTTCTCATGTCTATAT	0.383000														30			11		0	0	0.008291	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960458	73960458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:73960458C>T	uc004eby.3	-	2	4551	c.3934G>A	c.(3934-3936)Gaa>Aaa	p.E1312K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1312					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						TCCTGAAATTCCCGTTGGTCA	0.522000														76			41		0	0	0.002522	0	0
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	T	T	rs1055042	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:18778612C>T	uc011ago.1	-	1		c.208G>A			GGT3P_uc011agp.1_Non-coding_Transcript|GGT3P_uc002zob.1_Non-coding_Transcript					Homo sapiens gamma-glutamyltransferase 3 pseudogene (GGT3P), non-coding RNA.																		GCGGCCACGGCAGCCCTGGTG	0.637000														18			5		0	0	0.003080	0	0
ATIC	471	broad.mit.edu	37	2	216197147	216197147	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:216197147T>C	uc002vex.4	+	7	918	c.731T>C	c.(730-732)tTg>tCg	p.L244S	ATIC_uc010zjo.2_Missense_Mutation_p.L185S|ATIC_uc002vey.4_Missense_Mutation_p.L243S	NM_004044	NP_004035	P31939	PUR9_HUMAN	Homo sapiens 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC), mRNA.	244					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)	TGCGATGCTTTGAACGCCTGG	0.448000			T	ALK	ALCL									44			32		0	0	0.002445	0	0
NPNT	255743	broad.mit.edu	37	4	106848586	106848586	+	Splice_Site	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:106848586G>A	uc011cfd.2	+	3	478	c.265_splice	c.e3+1	p.D89_splice	NPNT_uc011cfc.2_Splice_Site_p.D106_splice|NPNT_uc011cfe.2_Splice_Site_p.D89_splice|NPNT_uc003hya.3_Splice_Site_p.D89_splice|NPNT_uc011cff.2_Splice_Site_p.D89_splice	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	89	EGF-like 2; calcium-binding (Potential).				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)		TGTAATCAAGGTAGGAAAACA	0.398000														24			5		0	0	0.000602	0	0
SHOX	6473	broad.mit.edu	37	X	595510	595510	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:595510C>T	uc004cph.1	+	2	1126	c.435C>T	c.(433-435)ttC>ttT	p.F145F	SHOX_uc004cpi.3_Silent_p.F145F	NM_000451	NP_000442	O15266	SHOX_HUMAN	Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA.	145					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		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)				CCGACGCCTTCATGCGCGAGG	0.692000														13			6		0	0	0.001168	0	0
PDE6B	5158	broad.mit.edu	37	4	657903	657903	+	Splice_Site	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:657903G>A	uc003gap.3	+	17	2075	c.2022_splice	c.e17-1	p.K674_splice	PDE6B_uc003gao.4_Splice_Site_p.K674_splice|PDE6B_uc011buy.2_Splice_Site_p.K395_splice|PDE6B_uc011buz.2_Splice_Site_p.K106_splice	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	674					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						CTGGGTTCAGGAAGAGAGCGA	0.622000														49			27		0	0	0.009535	0	0
CAMK2B	816	broad.mit.edu	37	7	44283055	44283055	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:44283055G>A	uc003tkq.2	-	6	696	c.486C>T	c.(484-486)atC>atT	p.I162I	CAMK2B_uc003tkp.2_Silent_p.I162I|CAMK2B_uc003tkr.2_Silent_p.I162I|CAMK2B_uc003tks.2_Silent_p.I162I|CAMK2B_uc003tku.2_Silent_p.I162I|CAMK2B_uc003tkv.2_Silent_p.I162I|CAMK2B_uc003tkt.2_Silent_p.I162I|CAMK2B_uc003tkw.2_Silent_p.I162I|CAMK2B_uc010kyc.2_Silent_p.I162I	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA.	162	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CCTGCACCTCGATAGCTAGGC	0.637000														71			26		0	0	0.004656	0	0
MST1	4485	broad.mit.edu	37	3	49723577	49723577	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:49723577G>A	uc003cxg.3	-	8	1137	c.1065C>T	c.(1063-1065)ccC>ccT	p.P355P	MST1_uc011bcs.1_Missense_Mutation_p.P394L|MST1_uc010hkx.2_3'UTR|MST1_uc011bct.1_3'UTR	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	341	Kringle 3.				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)		TGAAGCACCAGGGCGCCTCTG	0.677000														15			8		0	0	0.003080	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229590	8229591	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:8229590_8229591CC>TT	uc003gkv.4	+	11	2270_2271	c.2169_2170CC>TT	c.(2167-2172)ccccac>ccTTac	p.H724Y	SH3TC1_uc003gkw.4_Missense_Mutation_p.H648Y|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.	724							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						AGTGCCTGCCCCACCTGGTGCT	0.653000														54			22		0	0	0.004672	0	0
REV1	51455	broad.mit.edu	37	2	100050810	100050810	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:100050810G>A	uc002tad.3	-	7	1634	c.1422C>T	c.(1420-1422)atC>atT	p.I474I	REV1_uc002tac.3_Silent_p.I474I	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	474	UmuC.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCCTTTCAGGATTTTATTCT	0.458000								Direct reversal of damage						48			24		0	0	0.003954	0	0
HTT	3064	broad.mit.edu	37	4	3215735	3215735	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:3215735C>T	uc021xkv.1	+	49	6970	c.6825C>T	c.(6823-6825)ctC>ctT	p.L2275L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2275					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)		GTCTGGATCTCCAGGCAGGGC	0.597000														37			20		0	0	0.008871	0	0
COL12A1	1303	broad.mit.edu	37	6	75797356	75797356	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:75797356G>A	uc021zbv.1	-	63	9153	c.9118C>T	c.(9118-9120)Cct>Tct	p.P3040S	COL12A1_uc021zbw.1_Missense_Mutation_p.P1876S|COL12A1_uc003phs.3_Missense_Mutation_p.P3040S|COL12A1_uc003pht.3_Missense_Mutation_p.P1876S	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	3040	Triple-helical region (COL1) with 2 imperfections.				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						TATCCAGGAGGACCTGGGGGT	0.577000														33			42		0	0	0.009718	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46387736	46387737	+	Silent	DNP	GG	AA	AA			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:46387736_46387737GG>AA	uc002pds.1	-	0	1640_1641	c.1296_1297CC>TT	c.(1294-1299)gccctg>gcTTtg	p.432_433AL>AL		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein 1 (IRF2BP1), mRNA.	432					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)		GAGTGGCCCAGGGCTTCGGCCA	0.728000														17			4		0	0	0.004672	0	0
SCN5A	6331	broad.mit.edu	37	3	38592513	38592513	+	Missense_Mutation	SNP	C	T	T	rs137854601		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:38592513C>T	uc021wvo.1	-	26	5402	c.5350G>A	c.(5350-5352)Gag>Aag	p.E1784K	SCN5A_uc021wvk.1_Missense_Mutation_p.E1751K|SCN5A_uc021wvl.1_Missense_Mutation_p.E1730K|SCN5A_uc021wvm.1_Missense_Mutation_p.E1766K|SCN5A_uc021wvn.1_Missense_Mutation_p.E1783K|SCN5A_uc021wvp.1_Missense_Mutation_p.E1784K|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.E1596K|SCN5A_uc021wvi.1_Missense_Mutation_p.E1650K	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1784			E -> K (in LQT3 and BRS1).		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)	CTCAGGGGCTCGGTGCTCTCC	0.498000														62			23		0	0	0.002299	0	0
CXorf36	79742	broad.mit.edu	37	X	45011047	45011047	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:45011047G>A	uc004dgg.2	-	4	1227	c.1152C>T	c.(1150-1152)tcC>tcT	p.S384S		NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	Homo sapiens chromosome X open reading frame 36 (CXorf36), transcript variant 1, mRNA.	384						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						GAACAAGGATGGAGTCTATGT	0.587000														41			20		0	0	0.007413	0	0
FAM55D	54827	broad.mit.edu	37	11	114453255	114453255	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:114453255C>T	uc001ppc.3	-	2	766	c.585G>A	c.(583-585)agG>agA	p.R195R	FAM55D_uc001ppd.3_Intron	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	195						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)		AGCCTTGGTTCCTTGCACTCC	0.532000														32			9		0	0	0.006214	0	0
NEFM	4741	broad.mit.edu	37	8	24775118	24775118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:24775118G>A	uc003xed.4	+	2	1783	c.1750G>A	c.(1750-1752)Gag>Aag	p.E584K	NEFM_uc011lac.1_Missense_Mutation_p.E584K|NEFM_uc010lue.3_Missense_Mutation_p.E208K	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	584	Tail.					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)		cgaagctaaagaggaaaagaa	0.502000														12			5		0	0	0.000602	0	0
MAP2	4133	broad.mit.edu	37	2	210561449	210561449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:210561449G>A	uc002vde.1	+	7	4612	c.4364G>A	c.(4363-4365)aGa>aAa	p.R1455K	MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.R1451K	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1455	Calmodulin-binding (Potential).				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)	ACAGTCTCCAGAGATGAAGTG	0.343000														28			10		0	0	0.008291	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	T	T	rs3969711		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:145296373G>T	uc021oul.1	+	2	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Missense_Mutation_p.V99F|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	99								p.V99F(2)		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)		TAAAGTCCTAGTTCACTCTCA	0.473000														142			4		0.000274275	0.000276634	0.004482	1	0
PIP5K1P1	206426	broad.mit.edu	37	6	7987740	7987740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:7987740G>A	uc003mxx.4	+	0	1406	c.971G>A	c.(970-972)cGa>cAa	p.R324Q	TXNDC5_uc003mxw.3_Intron					Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1 (PIP5K1P1), non-coding RNA.																		CATGCACAACGAGAGCCCTTA	0.488000														20			7		0	0	0.001984	0	0
PTPRB	5787	broad.mit.edu	37	12	70980852	70980852	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:70980852T>A	uc001swb.4	-	6	1622	c.1592A>T	c.(1591-1593)tAc>tTc	p.Y531F	PTPRB_uc010sto.2_Missense_Mutation_p.Y531F|PTPRB_uc010stp.2_Missense_Mutation_p.Y441F|PTPRB_uc001swc.4_Missense_Mutation_p.Y749F|PTPRB_uc001swa.4_Missense_Mutation_p.Y749F|PTPRB_uc001swd.4_Missense_Mutation_p.Y748F|PTPRB_uc009zrr.2_Missense_Mutation_p.Y628F	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	531	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)			TGTAGCCATGTATTTTCGTCC	0.378000														55			28		0	0	0.007291	0	0
ABCA6	23460	broad.mit.edu	37	17	67119506	67119506	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:67119506G>A	uc002jhw.1	-	9	1485	c.1310C>T	c.(1309-1311)tCa>tTa	p.S437L		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	437					transport	integral to membrane	ATP binding|ATPase activity	p.N436T(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)					ACAAGATGATGAATTCAAGAA	0.358000														22			16		0	0	0.004007	0	0
SF3A3	10946	broad.mit.edu	37	1	38453276	38453276	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:38453276A>G	uc001cci.3	-	3	396	c.272T>C	c.(271-273)aTa>aCa	p.I91T	SF3A3_uc010oik.2_Intron	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	Homo sapiens splicing factor 3a, subunit 3, 60kDa (SF3A3), mRNA.	91					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GAATTCCTTTATTTGCTTGAG	0.378000														75			29		0	0	0.008361	0	0
TFCP2L1	29842	broad.mit.edu	37	2	121995273	121995273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:121995273G>A	uc002tmx.3	-	9	1022	c.929C>T	c.(928-930)tCg>tTg	p.S310L	TFCP2L1_uc010flr.3_Missense_Mutation_p.S310L	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	310					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)					ATCCTGGATCGAAGCTGATGG	0.592000														52			18		0	0	0.006122	0	0
ZEB1	6935	broad.mit.edu	37	10	31810202	31810202	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:31810202C>T	uc001ivs.4	+	6	2002	c.1939C>T	c.(1939-1941)Cct>Tct	p.P647S	ZEB1_uc001ivr.4_Missense_Mutation_p.P429S|ZEB1_uc010qef.2_Missense_Mutation_p.P429S|ZEB1_uc009xlj.1_Missense_Mutation_p.P573S|ZEB1_uc010qeg.1_Missense_Mutation_p.P506S|ZEB1_uc009xlk.1_Missense_Mutation_p.P429S|ZEB1_uc001ivu.4_Missense_Mutation_p.P648S|ZEB1_uc010qeh.2_Missense_Mutation_p.P580S|ZEB1_uc001ivv.4_Missense_Mutation_p.P627S|ZEB1_uc001ivt.4_Missense_Mutation_p.P429S|ZEB1_uc009xlo.2_Missense_Mutation_p.P630S|ZEB1_uc009xlp.3_Missense_Mutation_p.P631S	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	647					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)				ACCATCTTCTCCTGAACCAGG	0.418000														17			13		0	0	0.001855	0	0
CD8B	926	broad.mit.edu	37	2	87085511	87085511	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:87085511C>T	uc002srw.3	-	1	131	c.72G>A	c.(70-72)caG>caA	p.Q24Q	RMND5A_uc002srs.4_Intron|CD8B_uc002srx.3_Silent_p.Q24Q|CD8B_uc002sry.3_Silent_p.Q24Q|CD8B_uc010fgt.3_Silent_p.Q24Q|CD8B_uc002srz.3_Silent_p.Q24Q|CD8B_uc010yto.2_Silent_p.Q24Q	NM_172213	NP_757362	P10966	CD8B_HUMAN	Homo sapiens CD8b molecule (CD8B), transcript variant 2, mRNA.	24	Ig-like V-type.				T cell activation|immune response|regulation of defense response to virus by virus|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	T cell receptor complex|early endosome|extracellular region|integral to plasma membrane	MHC class I protein binding|coreceptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						ATGCAGGGGTCTGCTGGAGGA	0.502000														26			10		0	0	0.000978	0	0
SPANXC	64663	broad.mit.edu	37	X	140335748	140335748	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:140335748C>T	uc004fbk.3	-	1	252	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	SPANXC_uc004fbl.3_Non-coding_Transcript	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	Homo sapiens SPANX family, member C (SPANXC), mRNA.	66						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					TTCAGCAGTTCCTCTGGAGAT	0.468000														243			87		0	0	0.003610	0	0
PLCB4	5332	broad.mit.edu	37	20	9400458	9400458	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:9400458C>T	uc021wam.1	+	21	2035	c.2020C>T	c.(2020-2022)Ctt>Ttt	p.L674F	PLCB4_uc010gbw.1_Missense_Mutation_p.L674F|PLCB4_uc010gbx.3_Missense_Mutation_p.L686F|PLCB4_uc021wal.1_Missense_Mutation_p.L674F|PLCB4_uc002wnh.3_Missense_Mutation_p.L521F	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	674	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						TACCAGGTACCTTCTCAAACC	0.428000														86			31		0	0	0.003271	0	0
ISM2	145501	broad.mit.edu	37	14	77948818	77948818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:77948818C>T	uc001xtz.3	-	3	894	c.820G>A	c.(820-822)Gac>Aac	p.D274N	ISM2_uc001xua.3_Intron|ISM2_uc001xty.3_Missense_Mutation_p.D186N	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	274						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						gaaggatagtcctcgtcttcc	0.552000														41			19		0	0	0.006122	0	0
FGF16	8823	broad.mit.edu	37	X	76711906	76711906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:76711906G>A	uc011mqp.2	+	1	244	c.244G>A	c.(244-246)Gag>Aag	p.E82K		NM_003868	NP_003859	O43320	FGF16_HUMAN	Homo sapiens fibroblast growth factor 16 (FGF16), mRNA.	173					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						CTCACCCCGGGAGGGATACAG	0.473000														55			26		0	0	0.004656	0	0
ZNF560	147741	broad.mit.edu	37	19	9580312	9580312	+	Missense_Mutation	SNP	G	A	A	rs149939433	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:9580312G>A	uc002mlp.1	-	7	733	c.523C>T	c.(523-525)Ctc>Ttc	p.L175F	ZNF560_uc010dwr.1_Missense_Mutation_p.L69F	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	175	KRAB 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TCACCTTGGAGAACTCTTGGC	0.448000														45			14		0	0	0.002450	0	0
TYK2	7297	broad.mit.edu	37	19	10463122	10463122	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:10463122C>A	uc002moc.4	-	22	3684	c.3306G>T	c.(3304-3306)caG>caT	p.Q1102H	TYK2_uc010dxe.3_Missense_Mutation_p.Q917H	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	1102	Protein kinase 2.				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)			TGGGGGGGCTCTGGCTGGAGT	0.607000														97			41		5.85753e-14	5.99091e-14	0.003610	1	0
OR4M1	441670	broad.mit.edu	37	14	20249039	20249039	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:20249039G>A	uc010tku.2	+	0	558	c.558G>A	c.(556-558)cgG>cgA	p.R186R		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V185F(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)		AGGTTGTCCGGATTGCCTGTG	0.453000														122			53		0	0	0.003610	0	0
GRM4	2914	broad.mit.edu	37	6	34026879	34026879	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:34026879G>A	uc003oir.4	-	3	1262	c.899C>T	c.(898-900)gCc>gTc	p.A300V	GRM4_uc011dsn.2_Missense_Mutation_p.A300V|GRM4_uc010jvh.3_Missense_Mutation_p.A300V|GRM4_uc010jvi.3_5'UTR|GRM4_uc003oio.3_5'UTR|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.A160V|GRM4_uc003oiq.3_Missense_Mutation_p.A167V|GRM4_uc011dsm.2_Missense_Mutation_p.A131V	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	300					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)	TGTCTGGTTGGCCCTTCGTGC	0.622000														37			18		0	0	0.010504	0	0
KIAA1109	84162	broad.mit.edu	37	4	123192757	123192757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:123192757C>T	uc003ieh.3	+	44	8123	c.8078C>T	c.(8077-8079)tCa>tTa	p.S2693L	KIAA1109_uc003iel.1_Missense_Mutation_p.S628L|KIAA1109_uc003iek.2_Missense_Mutation_p.S1312L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2693					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.V2692V(1)		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						ATTACAGTGTCAGAACAAAGT	0.373000														21			11		0	0	0.000978	0	0
RPL5	6125	broad.mit.edu	37	1	93301928	93301928	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:93301928G>T	uc001doz.3	+	4	584	c.506G>T	c.(505-507)gGa>gTa	p.G169V	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_Missense_Mutation_p.G119V|RPL5_uc001dpd.3_5'UTR|SNORD21_uc001dpe.2_5'Flank|SNORA66_uc021opt.1_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	169					endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GCTGTGGATGGAGGCTTGTCT	0.493000														58			24		7.07758e-08	7.16928e-08	0.004656	1	0
CSMD3	114788	broad.mit.edu	37	8	114326902	114326902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:114326902C>T	uc003ynu.3	-	1	458	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	CSMD3_uc003ynt.3_Missense_Mutation_p.R60Q|CSMD3_uc011lhx.2_Missense_Mutation_p.R100Q|CSMD3_uc010mcx.1_Missense_Mutation_p.R100Q|CSMD3_uc003ynx.4_Missense_Mutation_p.R100Q	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	100	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						TATTCTATTTCGTTCTTCTGC	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				60			26		0	0	0.004656	0	0
SCN10A	6336	broad.mit.edu	37	3	38791583	38791583	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:38791583G>A	uc003ciq.3	-	11	1848	c.1848C>T	c.(1846-1848)atC>atT	p.I616I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	616					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)	CGGAGGTTATGATACTGACAA	0.463000														38			11		0	0	0.002450	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559389	20559389	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:20559389C>T	uc002dhj.4	-	8	1303	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	ACSM2B_uc002dhk.4_Missense_Mutation_p.E365K|ACSM2B_uc010bwf.1_Missense_Mutation_p.E365K	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.	365					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						GGTACCGTTTCTGTCTGGCCA	0.498000														180			65		0	0	0.003610	0	0
VARS	7407	broad.mit.edu	37	6	31753447	31753447	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:31753447G>A	uc003nxe.3	-	8	1587	c.1164C>T	c.(1162-1164)acC>acT	p.T388T	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.	388					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	p.T388I(1)		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)	CCACCACCTGGGTGGCAATAC	0.632000														211			121		0	0	0.003610	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111936874	111936874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:111936874C>T	uc004bdz.1	-	25	2958	c.2663G>A	c.(2662-2664)aGa>aAa	p.R888K		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	888						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						CATCTTCTCTCTCTCCAGTTC	0.443000														18			15		0	0	0.004007	0	0
MYH3	4621	broad.mit.edu	37	17	10533023	10533023	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:10533023T>C	uc002gmq.2	-	39	5775	c.5687A>G	c.(5686-5688)aAa>aGa	p.K1896R		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1896					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.T1895T(1)		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						CTTTCGGAATTTGGTGAGATG	0.532000														56			26		0	0	0.004656	0	0
CXorf56	63932	broad.mit.edu	37	X	118676491	118676491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:118676491C>T	uc004erk.2	-	4	569	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	CXorf56_uc004erj.2_Missense_Mutation_p.E115K|CXorf56_uc011mtu.2_Missense_Mutation_p.E150K	NM_022101	NP_001164040	Q9H5V9	CX056_HUMAN	Homo sapiens chromosome X open reading frame 56 (CXorf56), transcript variant 1, mRNA.	164							protein binding			cervix(1)|endometrium(2)|lung(7)	10						TCTTCCTCTTCATCAATGGTA	0.507000														73			26		0	0	0.003954	0	0
MORC1	27136	broad.mit.edu	37	3	108682428	108682428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:108682428C>T	uc003dxl.3	-	26	2719	c.2632G>A	c.(2632-2634)Gaa>Aaa	p.E878K	MORC1_uc011bhn.2_Missense_Mutation_p.E857K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	878					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.E878D(1)		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						ATTTTTTTTTCATATTGGACC	0.279000														23			21		0	0	0.001882	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1339087	1339087	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:1339087G>A	uc003jch.3	-	3	533	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L	CLPTM1L_uc003jcg.3_Silent_p.L30L	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Homo sapiens CLPTM1-like (CLPTM1L), mRNA.	163					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GGCTCATCCAGGGCACTCGTC	0.602000														31			13		0	0	0.001368	0	0
PDE4A	5141	broad.mit.edu	37	19	10578289	10578289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:10578289C>T	uc002moj.2	+	14	2761	c.2653C>T	c.(2653-2655)Cct>Tct	p.P885S	PDE4A_uc021uow.1_Missense_Mutation_p.P863S|PDE4A_uc002mok.2_Missense_Mutation_p.P859S|PDE4A_uc002mol.2_Missense_Mutation_p.P824S|PDE4A_uc002mom.2_Missense_Mutation_p.P646S|PDE4A_uc002moo.2_3'UTR	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	885					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)	AGGTGGAGACCCTACCTGATC	0.652000														52			13		0	0	0.001855	0	0
MYH8	4626	broad.mit.edu	37	17	10315786	10315786	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:10315786G>A	uc002gmm.2	-	13	1412	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	439	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						CCATCCACAGGAACATCTTCT	0.493000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					179			68		0	0	0.003610	0	0
COL28A1	340267	broad.mit.edu	37	7	7516760	7516760	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:7516760C>T	uc003src.1	-	13	1333	c.1216G>A	c.(1216-1218)Gga>Aga	p.G406R	COL28A1_uc011jxe.1_Missense_Mutation_p.G89R|COL28A1_uc003srd.3_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	406					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)		CCTGGAAATCCTTCTCCGGGT	0.473000														54			25		0	0	0.008361	0	0
CDHR1	92211	broad.mit.edu	37	10	85972965	85972965	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:85972965C>T	uc001kcv.3	+	15	2006	c.1901C>T	c.(1900-1902)tCc>tTc	p.S634F	CDHR1_uc001kcw.3_Missense_Mutation_p.S634F|CDHR1_uc009xst.3_Missense_Mutation_p.S338F|CDHR1_uc001kcx.3_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	634	Cadherin 6.				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						CTCAAGAATTCCATCCGCTCC	0.587000														78			34		0	0	0.002836	0	0
FLNA	2316	broad.mit.edu	37	X	153577218	153577218	+	Nonstop_Mutation	SNP	C	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:153577218C>A	uc004fkk.2	-	47	8192	c.7943G>T	c.(7942-7944)tGa>tTa	p.*2648L	FLNA_uc011mzn.1_Nonstop_Mutation_p.*781L|FLNA_uc010nuu.1_Nonstop_Mutation_p.*2640L	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	0					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)					GCCCCAGACTCAGGGCACCAC	0.701000														33			22		3.28513e-13	3.35181e-13	0.003954	1	0
EML2	24139	broad.mit.edu	37	19	46119792	46119792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:46119792G>A	uc010xxm.2	-	17	2112	c.2039C>T	c.(2038-2040)tCc>tTc	p.S680F	EML2_uc002pcn.3_Missense_Mutation_p.S479F|EML2_uc002pcp.3_Missense_Mutation_p.S363F|EML2_uc002pco.3_Intron|EML2_uc010xxl.2_Missense_Mutation_p.S626F|EML2_uc010xxn.1_Non-coding_Transcript	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	479					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)		GTTGTCGTGGGAGCCCACGGC	0.706000														38			22		0	0	0.002780	0	0
TTC1	7265	broad.mit.edu	37	5	159437713	159437713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:159437713G>A	uc003lxu.3	+	1	228	c.178G>A	c.(178-180)Gag>Aag	p.E60K		NM_003314	NP_003305	Q99614	TTC1_HUMAN	Homo sapiens tetratricopeptide repeat domain 1 (TTC1), mRNA.	60					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		CCAGGGAGAAGAGGAGTGTTT	0.507000														20			12		0	0	0.000978	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361377	70361377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:70361377C>T	uc003hek.4	-	0	250	c.203G>A	c.(202-204)aGc>aAc	p.S68N	UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Missense_Mutation_p.S68N	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	68					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						AGTAGATGGGCTGTTGGGATC	0.398000														56			37		0	0	0.003755	0	0
CORIN	10699	broad.mit.edu	37	4	47663828	47663828	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:47663828C>T	uc003gxm.3	-	11	1728	c.1635G>A	c.(1633-1635)ggG>ggA	p.G545G	CORIN_uc011bzf.2_Silent_p.G406G|CORIN_uc011bzg.2_Silent_p.G478G|CORIN_uc011bzh.1_Silent_p.G508G|CORIN_uc011bzi.1_Silent_p.G508G	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	545	FZ 2.				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						GGCCCACAATCCCAAGAACAG	0.433000														27			16		0	0	0.004007	0	0
THSD7B	80731	broad.mit.edu	37	2	137990487	137990487	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:137990487C>T	uc002tva.1	+	7	1841	c.1841C>T	c.(1840-1842)cCt>cTt	p.P614L	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.P504L	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)		CCATGTCCCCCTAGTCAGGCT	0.458000														29			13		0	0	0.002450	0	0
DCC	1630	broad.mit.edu	37	18	50985602	50985602	+	Splice_Site	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:50985602G>A	uc002lfe.2	+	24	4009	c.3393_splice	c.e24-1	p.K1131_splice	DCC_uc010dpf.2_Splice_Site_p.K766_splice	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1131					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)		TGTTCCATAGGAAACGGGCCA	0.443000														32			14		0	0	0.001855	0	0
HEATR4	399671	broad.mit.edu	37	14	73989321	73989321	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:73989321G>A	uc021rwe.1	-	2	884	c.536C>T	c.(535-537)cCt>cTt	p.P179L	HEATR4_uc021rwf.1_Missense_Mutation_p.P132L|HEATR4_uc010tub.1_Missense_Mutation_p.P179L	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)		ATCTAGAGAAGGTGGCCGACC	0.572000														30			9		0	0	0.006214	0	0
AKR1C3	8644	broad.mit.edu	37	10	5141520	5141520	+	Splice_Site	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:5141520C>T	uc001ihr.3	+	5	631	c.448_splice	c.e5-1	p.A150_splice	AKR1C3_uc021pml.1_Splice_Site_p.A150_splice|AKR1C3_uc010qap.2_Splice_Site_p.A127_splice|AKR1C3_uc001ihu.3_Splice_Site_p.A150_splice	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.	150					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)	TCTCCACAGGCCATGGAGAAG	0.478000														30			14		0	0	0.003163	0	0
TPTE	7179	broad.mit.edu	37	21	10971338	10971338	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:10971338G>A	uc002yip.1	-	4	387	c.19C>T	c.(19-21)Ccg>Tcg	p.P7S	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.P7S|TPTE_uc002yir.1_Missense_Mutation_p.P7S|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	7					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)		AGGTCAGTCGGATCAGGACTA	0.448000														53			10		0	0	0.006214	0	0
MXRA5	25878	broad.mit.edu	37	X	3228225	3228225	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:3228225G>A	uc004crg.4	-	6	8176	c.8019C>T	c.(8017-8019)ctC>ctT	p.L2673L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2673	Ig-like C2-type 11.					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)				TGCCATTGGGGAGCGTCCAGG	0.602000														78			33		0	0	0.003755	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37478473	37478473	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:37478473G>A	uc021ppc.1	+	24	2431	c.2332G>A	c.(2332-2334)Gga>Aga	p.G778R	ANKRD30A_uc001iza.1_Missense_Mutation_p.G778R	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	834						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAAAATAAATGGAAAATTAGA	0.308000														26			21		0	0	0.003330	0	0
CTAGE11P	647288	broad.mit.edu	37	13	75814283	75814283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:75814283G>A	uc010ths.2	-	0	235	c.194C>T	c.(193-195)tCg>tTg	p.S65L						Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																		ACTCCTAACCGATCTAAAACT	0.378000														61			18		0	0	0.004990	0	0
C11orf9	745	broad.mit.edu	37	11	61533560	61533560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:61533560C>T	uc001nsc.1	+	2	361	c.265C>T	c.(265-267)Ccc>Tcc	p.P89S	C11orf9_uc001nse.1_Missense_Mutation_p.P80S	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	89	Pro-rich.				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						GCGCCATGGTCCCCTCCCACC	0.741000														15			12		0	0	0.000978	0	0
HTR3A	3359	broad.mit.edu	37	11	113860275	113860275	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:113860275G>A	uc010rxb.2	+	7	1574	c.1341G>A	c.(1339-1341)cgG>cgA	p.R447R	HTR3A_uc010rxa.2_Silent_p.R415R|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.R394R	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	409	HA-stretch.				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.V447G(1)|p.R441Q(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)	CACCACCTCGGGAGGCCTCGC	0.642000														36			38		0	0	0.006999	0	0
ZNF410	57862	broad.mit.edu	37	14	74388824	74388824	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:74388824C>T	uc010arz.2	+	10	1686	c.1236C>T	c.(1234-1236)aaC>aaT	p.N412N	ZNF410_uc001xoy.2_Non-coding_Transcript|ZNF410_uc010tuf.2_Intron|ZNF410_uc010tui.2_Non-coding_Transcript|ZNF410_uc001xpa.2_Silent_p.N199N|ZNF410_uc001xoz.2_Silent_p.N395N|ZNF410_uc001xpb.2_Intron|ZNF410_uc010tug.2_Silent_p.N126N|ZNF410_uc010tuh.2_Silent_p.N322N|ZNF410_uc010tuj.2_Silent_p.N199N	NM_001242924	NP_001229853	Q86VK4	ZN410_HUMAN	Homo sapiens zinc finger protein 410 (ZNF410), transcript variant 1, mRNA.	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		CCAGTAAAAACCTGGTGTCTA	0.468000														40			16		0	0	0.003163	0	0
OR4A15	81328	broad.mit.edu	37	11	55135686	55135686	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:55135686G>A	uc010rif.2	+	0	327	c.327G>A	c.(325-327)atG>atA	p.M109I		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K108N(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTCCCAAAATGATTGTTGACT	0.418000														41			29		0	0	0.006320	0	0
FAM135B	51059	broad.mit.edu	37	8	139163460	139163460	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:139163460C>T	uc003yuy.3	-	12	3429	c.3258G>A	c.(3256-3258)gaG>gaA	p.E1086E	FAM135B_uc003yux.3_Silent_p.E987E|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.E648E|FAM135B_uc003yvb.3_Silent_p.E648E	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1086								p.D1085N(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACTGACTTCCTCATCCAACG	0.468000										HNSCC(54;0.14)				24			8		0	0	0.004482	0	0
MYO16	23026	broad.mit.edu	37	13	109445940	109445940	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:109445940A>T	uc010agk.2	+	5	1315	c.693A>T	c.(691-693)ttA>ttT	p.L231F	MYO16_uc001vqt.1_Missense_Mutation_p.L209F|MYO16_uc001vqu.1_Missense_Mutation_p.L9F	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	209					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			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)			AACACTTCTTATCATCTGGAG	0.388000														39			15		0	0	0.004990	0	0
KIAA0913	23053	broad.mit.edu	37	10	75551948	75551948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:75551948G>A	uc001jvj.3	+	9	1906	c.1651G>A	c.(1651-1653)Ggc>Agc	p.G551S	KIAA0913_uc001jve.3_Missense_Mutation_p.G551S|KIAA0913_uc009xrl.3_Missense_Mutation_p.G551S|KIAA0913_uc001jvf.3_Missense_Mutation_p.G551S|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_5'UTR|KIAA0913_uc010qkr.2_5'UTR	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	551	Gly-rich.						zinc ion binding	p.R550*(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					CAAGCGAAAGGGCTTGGGTGA	0.667000														22			5		0	0	0.001168	0	0
ANK3	288	broad.mit.edu	37	10	61802491	61802491	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:61802491C>T	uc001jky.3	-	42	13430	c.13092G>A	c.(13090-13092)acG>acA	p.T4364T	ANK3_uc001jkw.3_Silent_p.T988T|ANK3_uc009xpa.3_Silent_p.T987T|ANK3_uc001jkx.3_Silent_p.T1031T|ANK3_uc010qih.2_Silent_p.T1855T|ANK3_uc001jkz.4_Silent_p.T1848T|ANK3_uc001jkv.3_Silent_p.T387T	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	4364					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						TTTCTTTCTTCGTTTTCACCT	0.398000														71			21		0	0	0.003954	0	0
TMEM50A	23585	broad.mit.edu	37	1	25679392	25679392	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:25679392C>T	uc001bke.3	+	4	466	c.294C>T	c.(292-294)ttC>ttT	p.F98F	TMEM50A_uc010oeq.2_Intron|TMEM50A_uc009vrr.3_Non-coding_Transcript|TMEM50A_uc009vrs.3_Intron	NM_014313	NP_055128	O95807	TM50A_HUMAN	Homo sapiens transmembrane protein 50A (TMEM50A), mRNA.	98						endoplasmic reticulum|integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	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;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;3.47e-27)|Colorectal(126;1.1e-08)|COAD - Colon adenocarcinoma(152;7.48e-07)|STAD - Stomach adenocarcinoma(196;0.00035)|BRCA - Breast invasive adenocarcinoma(304;0.00047)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|GBM - Glioblastoma multiforme(114;0.00106)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.204)		TTTGGCTTTTCGTTGGTTTCA	0.333000														47			12		0	0	0.001855	0	0
AGAP4	119016	broad.mit.edu	37	10	46321421	46321421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:46321421G>A	uc001jcx.4	-	6	2060	c.1934C>T	c.(1933-1935)tCc>tTc	p.S645F	AGAP4_uc021pps.1_Missense_Mutation_p.S645F|AGAP4_uc010qfl.2_Missense_Mutation_p.S668F|AGAP4_uc001jcy.4_Missense_Mutation_p.S560F|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.	645					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)|lung(1)|ovary(1)	3						CTCCTGGCTGGAGGCCTGCCG	0.582000														104			33		0	0	0.005524	0	0
PRKCI	5584	broad.mit.edu	37	3	169988339	169988339	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:169988339C>T	uc003fgs.2	+	5	819	c.581C>T	c.(580-582)tCt>tTt	p.S194F		NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	194	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	p.M194T(1)		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)			GGGCGGCATTCTTTGCCACAG	0.398000														43			10		0	0	0.008291	0	0
ADH1B	125	broad.mit.edu	37	4	100232727	100232727	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:100232727G>A	uc003hus.4	-	6	999	c.915C>T	c.(913-915)aaC>aaT	p.N305N	ADH1B_uc003hut.4_Silent_p.N265N|ADH1B_uc011ceh.2_Silent_p.N150N|ADH1B_uc011cei.1_Silent_p.N265N	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	305					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)	GCAGCATAGGGTTTATTGAGA	0.473000														103			46		0	0	0.003214	0	0
BCR	613	broad.mit.edu	37	22	23651651	23651651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:23651651C>T	uc002zww.3	+	16	3649	c.3053C>T	c.(3052-3054)aCc>aTc	p.T1018I	BCR_uc002zwx.3_Missense_Mutation_p.T974I|BCR_uc011aiy.2_Missense_Mutation_p.T607I	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	1018					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						TGGCAGCGCACCGTCATCGCC	0.607000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									15			5		0	0	0.001168	0	0
HHLA2	11148	broad.mit.edu	37	3	108076945	108076945	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:108076945G>A	uc003dwz.3	+	5	1354	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	HHLA2_uc011bhl.2_Missense_Mutation_p.E250K|HHLA2_uc010hpu.3_Missense_Mutation_p.E314K|HHLA2_uc003dwy.4_Missense_Mutation_p.E314K	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	314	Ig-like V-type 2.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						AGACAGTGGGGAATATTTATG	0.363000														111			12		0	0	0.000978	0	0
IGSF9B	22997	broad.mit.edu	37	11	133816061	133816061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:133816061C>T	uc001qgx.4	-	1	388	c.157G>A	c.(157-159)Gga>Aga	p.G53R	IGSF9B_uc001qgz.2_Non-coding_Transcript	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	53	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)		GGGGGCTGTCCCGTCACTGGG	0.622000														7			6		0	0	0.003080	0	0
SCAND3	114821	broad.mit.edu	37	6	28541289	28541289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:28541289C>T	uc003nlo.3	-	3	2995	c.2377G>A	c.(2377-2379)Gaa>Aaa	p.E793K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	793					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						tcaaagaattcttttggttgt	0.323000														31			12		0	0	0.001368	0	0
HPS1	3257	broad.mit.edu	37	10	100177398	100177398	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:100177398G>A	uc021pwv.1	-	19	2272	c.2026C>T	c.(2026-2028)Ccc>Tcc	p.P676S	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.	676					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)		AGGTCAGTGGGGATGACAGAC	0.677000									Hermansky-Pudlak syndrome					33			8		0	0	0.004482	0	0
NLRC5	84166	broad.mit.edu	37	16	57101722	57101722	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:57101722C>T	uc021tiu.1	+	34	4608	c.4481C>T	c.(4480-4482)tCt>tTt	p.S1494F	NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_Missense_Mutation_p.S36F|NLRC5_uc002ekr.1_Missense_Mutation_p.S381F	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1494					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)				CTGTCCCTCTCTGAGCTGAAG	0.537000														57			30		0	0	0.002096	0	0
MFF	56947	broad.mit.edu	37	2	228195367	228195367	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:228195367C>G	uc002vos.3	+	3	476	c.64C>G	c.(64-66)Ccc>Gcc	p.P22A	MFF_uc002vot.3_5'UTR|MFF_uc002vow.3_5'UTR|MFF_uc002voy.3_Missense_Mutation_p.P22A|MFF_uc021vxu.1_5'UTR|MFF_uc002voz.3_5'UTR	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	Homo sapiens mitochondrial fission factor (MFF), nuclear gene encoding mitochondrial protein, mRNA.	22						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						ATTTCCTTCTCCCACTGCTGC	0.438000														24			8		0	0	0.003080	0	0
ZNF718	255403	broad.mit.edu	37	4	59328	59328	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:59328C>T	uc003fzv.1	+	1	165	c.9C>T	c.(7-9)ctC>ctT	p.L3L	ZNF718_uc003fzt.4_Silent_p.L3L|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_Intron	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	3					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)		TTCAGGAACTCGTAACATTCA	0.403000														381			29		0	0	0.002445	0	0
A1CF	29974	broad.mit.edu	37	10	52603817	52603817	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:52603817G>A	uc001jjj.3	-	3	353	c.165C>T	c.(163-165)ggC>ggT	p.G55G	A1CF_uc010qho.2_Silent_p.G63G|A1CF_uc010qhn.2_Silent_p.G63G|A1CF_uc009xov.3_Silent_p.G55G|A1CF_uc001jji.3_Silent_p.G55G|A1CF_uc001jjh.3_Silent_p.G63G|A1CF_uc001jjk.1_Silent_p.G55G	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	55					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						AAATTTCACAGCCCCTTTCAG	0.423000														64			29		0	0	0.006320	0	0
ODZ2	57451	broad.mit.edu	37	5	167589726	167589726	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:167589726G>A	uc010jjd.3	+	12	2506	c.2506G>A	c.(2506-2508)Gaa>Aaa	p.E836K	ODZ2_uc003lzr.4_Missense_Mutation_p.E613K|ODZ2_uc003lzt.4_Missense_Mutation_p.E209K|ODZ2_uc010jje.3_Missense_Mutation_p.E107K	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)		CGTTGCCATGGAAACTTCCTG	0.542000														48			21		0	0	0.002780	0	0
ZNF592	9640	broad.mit.edu	37	15	85326896	85326896	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:85326896G>A	uc002bld.3	+	3	1326	c.990G>A	c.(988-990)aaG>aaA	p.K330K	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	330					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)			AGTCACCAAAGAGTCCCCGGA	0.542000														94			32		0	0	0.004289	0	0
EXOSC7	23016	broad.mit.edu	37	3	45046796	45046796	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:45046796C>T	uc003coi.2	+	5	534	c.505C>T	c.(505-507)Cga>Tga	p.R169*	EXOSC7_uc003coh.1_Nonsense_Mutation_p.R104*|EXOSC7_uc010his.1_Nonsense_Mutation_p.R88*	NM_015004	NP_055819	Q15024	EXOS7_HUMAN	Homo sapiens exosome component 7 (EXOSC7), transcript variant 1, mRNA.	169			R -> Q (in dbSNP:rs34512144).		exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|RNA binding|protein binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		ACCAAGGGTTCGAGTTTTGGA	0.438000														51			25		0	0	0.003954	0	0
DHX38	9785	broad.mit.edu	37	16	72138394	72138394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:72138394C>T	uc002fcb.3	+	14	2375	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	DHX38_uc010vmp.2_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	674	Helicase ATP-binding.				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)				GGTAGTGGCTCGGCGCTCAGA	0.607000														18			16		0	0	0.004007	0	0
MGAM	8972	broad.mit.edu	37	7	141794601	141794601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:141794601C>T	uc003vwy.3	+	39	4762	c.4708C>T	c.(4708-4710)Cgc>Tgc	p.R1570C		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1570	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GATGTGTGTTCGCTGGATGCA	0.483000														62			13		0	0	0.004007	0	0
ANK3	288	broad.mit.edu	37	10	61815475	61815475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:61815475C>T	uc001jky.3	-	41	13344	c.13006G>A	c.(13006-13008)Gat>Aat	p.D4336N	ANK3_uc001jkw.3_Missense_Mutation_p.D960N|ANK3_uc009xpa.3_Missense_Mutation_p.D960N|ANK3_uc001jkx.3_Missense_Mutation_p.D1004N|ANK3_uc010qih.2_Missense_Mutation_p.D1827N|ANK3_uc001jkz.4_Missense_Mutation_p.D1820N|ANK3_uc001jkv.3_Missense_Mutation_p.D359N	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	4336					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						GGCTTGCCATCTGCTGGAGAA	0.453000														172			65		0	0	0.003610	0	0
BTBD8	284697	broad.mit.edu	37	1	92568184	92568184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:92568184C>T	uc001doo.3	+	2	769	c.502C>T	c.(502-504)Cca>Tca	p.P168S	BTBD8_uc010otc.2_Non-coding_Transcript	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	Homo sapiens BTB (POZ) domain containing 8 (BTBD8), mRNA.	168						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)		GCATGAAATTCCAGAGGATAT	0.328000														28			17		0	0	0.006122	0	0
RP1	6101	broad.mit.edu	37	8	55541696	55541696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:55541696C>T	uc003xsd.1	+	3	5402	c.5254C>T	c.(5254-5256)Cat>Tat	p.H1752Y	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1752					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)			GAAAGAAAATCATTTGCTAAG	0.413000														30			15		0	0	0.003163	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217583	150217583	+	Missense_Mutation	SNP	G	A	A	rs80028286	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:150217583G>A	uc003whk.3	+	1	651	c.521G>A	c.(520-522)aGt>aAt	p.S174N	GIMAP7_uc022apu.1_Missense_Mutation_p.S174N	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	174							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGAAAACCAGTAAGGCAGAG	0.483000														56			11		0	0	0.008291	0	0
AIM1L	55057	broad.mit.edu	37	1	26664929	26664929	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:26664929G>A	uc001bmd.4	-	6	3534	c.3384C>T	c.(3382-3384)ccC>ccT	p.P1128P	AIM1L_uc001bmf.3_5'UTR	NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	83							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)		CCAGGATGTAGGGAGTGTCTT	0.562000														85			30		0	0	0.002445	0	0
LYST	1130	broad.mit.edu	37	1	235972340	235972340	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:235972340A>G	uc001hxj.2	-	4	1953	c.1778T>C	c.(1777-1779)aTt>aCt	p.I593T	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.I593T	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	593					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)			GAGCAAAGGAATGATTACAGA	0.388000														78			25		0	0	0.004656	0	0
FMN2	56776	broad.mit.edu	37	1	240256751	240256751	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:240256751G>A	uc010pye.2	+	0	1567	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K	FMN2_uc010pyd.2_Missense_Mutation_p.E448K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	448					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)			GAGGCGGCCGGAACCCTCCCT	0.697000														66			22		0	0	0.002780	0	0
C1R	715	broad.mit.edu	37	12	7187929	7187929	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:7187929G>A	uc010sfy.2	-	8	1850	c.1791C>T	c.(1789-1791)tcC>tcT	p.S597S		NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	675	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					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)	CGATGCCCCAGGACACGATGC	0.587000														46			22		0	0	0.002780	0	0
GZMK	3003	broad.mit.edu	37	5	54327348	54327348	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:54327348A>C	uc003jpl.1	+	3	564	c.520A>C	c.(520-522)Act>Cct	p.T174P		NM_002104	NP_002095	P49863	GRAK_HUMAN	Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA.	174	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)				AGTCACTGTTACTGTCCTAAG	0.478000														59			27		0	0	0.006320	0	0
OR2W1	26692	broad.mit.edu	37	6	29012117	29012117	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:29012117G>A	uc003nlw.2	-	0	836	c.836C>T	c.(835-837)aCc>aTc	p.T279I	LOC100129636_uc021ytq.1_5'UTR	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AGTGATGACGGTGTAAAAGAG	0.433000														20			16		0	0	0.004007	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45994014	45994014	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:45994014C>T	uc002zfk.1	+	0	409	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S	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.	127	36 X 5 AA repeats of C-C-X(3).					keratin filament		p.P127S(4)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GTGCTGTGTGCCCGTCTGCTG	0.642000														163			6		0	0	0.001984	0	0
PPP1CB	5500	broad.mit.edu	37	2	29016845	29016845	+	Silent	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:29016845T>C	uc002rmg.3	+	7	1021	c.861T>C	c.(859-861)acT>acC	p.T287T	PPP1CB_uc010ymj.2_Silent_p.T259T|PPP1CB_uc010yml.2_Silent_p.T259T|PPP1CB_uc002rmh.3_Silent_p.T287T|SPDYA_uc002rmi.3_5'UTR	NM_206876	NP_996759	P62140	PP1B_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, beta isozyme (PPP1CB), transcript variant 3, mRNA.	287					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)					TGGATGAAACTTTGATGTGTT	0.313000														30			13		0	0	0.001855	0	0
LIG1	3978	broad.mit.edu	37	19	48660362	48660362	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:48660362G>A	uc002pia.1	-	4	399	c.279C>T	c.(277-279)ccC>ccT	p.P93P	LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Silent_p.P93P|LIG1_uc010xzg.1_Silent_p.P63P|LIG1_uc010xzh.1_Non-coding_Transcript	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	93					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TGGCAGGACGGGGCGGGGAGA	0.562000								Nucleotide excision repair (NER)						101			48		0	0	0.003610	0	0
GLUD2	2747	broad.mit.edu	37	X	120182569	120182569	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:120182569A>G	uc004eto.3	+	0	1108	c.1031A>G	c.(1030-1032)gAc>gGc	p.D344G		NM_012084	NP_036216	P49448	DHE4_HUMAN	Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	344					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)	GATGGTATTGACCCAAAGGAA	0.453000														125			65		0	0	0.003610	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64766845	64766845	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:64766845G>A	uc003jtp.3	-	2	1036	c.222C>T	c.(220-222)gaC>gaT	p.D74D	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.	74					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.W74*(1)|p.E73V(1)		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)		GATCAATAGGGTCCATACTCC	0.378000														37			17		0	0	0.006122	0	0
RGPD3	653489	broad.mit.edu	37	2	107042458	107042458	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:107042458G>A	uc010ywi.1	-	18	2749	c.2692C>T	c.(2692-2694)Ccc>Tcc	p.P898S		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	898					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						ACCTTTGTGGGAGTAACATTA	0.313000														70			20		0	0	0.003954	0	0
LOC440905	440905	broad.mit.edu	37	2	130785890	130785890	+	RNA	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:130785890C>T	uc002tpy.1	-	0		c.3602G>A			LOC440905_uc002tpz.2_Non-coding_Transcript					Homo sapiens uncharacterized LOC440905 (LOC440905), non-coding RNA.																		ACCTGGGTTTCCTTCCAGTGA	0.493000														18			3		0	0	0.004672	0	0
GADL1	339896	broad.mit.edu	37	3	30891538	30891538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:30891538C>T	uc003cep.2	-	5	648	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	GADL1_uc003ceq.1_Missense_Mutation_p.E201K	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	201					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	AGCCCCTTTTCCTTAATATCA	0.323000														20			22		0	0	0.003330	0	0
NUP210	23225	broad.mit.edu	37	3	13367352	13367352	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:13367352G>A	uc003bxv.1	-	32	4670	c.4587C>T	c.(4585-4587)gcC>gcT	p.A1529A		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1529					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)					CGGATCCCACGGCCCGGGCCA	0.632000														85			35		0	0	0.006230	0	0
THSD7B	80731	broad.mit.edu	37	2	138208556	138208556	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:138208556G>A	uc002tva.1	+	13	3008	c.3008G>A	c.(3007-3009)gGa>gAa	p.G1003E	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)		CCTTACAATGGAGGACGACCA	0.393000														7			4		0	0	0.009096	0	0
TCP10	6953	broad.mit.edu	37	6	167790034	167790034	+	Splice_Site	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:167790034C>T	uc003qvv.1	-	5	788	c.576_splice	c.e5+1	p.K192_splice	TCP10_uc003qvu.3_Splice_Site_p.K192_splice|TCP10_uc003qvw.3_Silent_p.K168K	NM_004610	NP_004601	Q12799	TCP10_HUMAN	Homo sapiens t-complex 10 homolog (mouse) (TCP10), mRNA.	219						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CCGAGGTCACCTTTCCGTCTT	0.507000														49			30		0	0	0.002096	0	0
RYR3	6263	broad.mit.edu	37	15	33873807	33873807	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:33873807C>T	uc001zhi.3	+	13	1606	c.1536C>T	c.(1534-1536)gcC>gcT	p.A512A	RYR3_uc010bar.3_Silent_p.A512A	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	512					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)		GTGGCATGGCCTGGAAAGAAA	0.468000														54			18		0	0	0.008871	0	0
RNF182	221687	broad.mit.edu	37	6	13977521	13977521	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:13977521C>T	uc021ylw.1	+	2	664	c.171C>T	c.(169-171)tcC>tcT	p.S57S	RNF182_uc021ylx.1_Silent_p.S57S|RNF182_uc003nbe.3_Silent_p.S57S|RNF182_uc003nbf.3_Silent_p.S57S|RNF182_uc003nbg.3_Silent_p.S57S|RNF182_uc021yly.1_Silent_p.S57S	NM_001165034	NP_689950	Q8N6D2	RN182_HUMAN	Homo sapiens ring finger protein 182 (RNF182), transcript variant 4, mRNA.	57						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			TTGGGGACTCCCCACAAGGTG	0.463000														100			28		0	0	0.006320	0	0
SLC22A9	114571	broad.mit.edu	37	11	63173968	63173968	+	Splice_Site	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:63173968G>A	uc001nww.3	+	7	1342	c.1074_splice	c.e7-1	p.R358_splice	SLC22A9_uc001nwx.3_Splice_Site	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	358					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AATCATCACAGATTTGCAAAC	0.398000														25			23		0	0	0.003330	0	0
NOTCH1	4851	broad.mit.edu	37	9	139405216	139405216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:139405216G>A	uc004chz.3	-	16	2629	c.2629C>T	c.(2629-2631)Ccg>Tcg	p.P877S	NOTCH1_uc004cia.1_Missense_Mutation_p.P107S	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	877	EGF-like 23; 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)		TGCCGGCACGGGCTCAGAACG	0.697000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				31			12		0	0	0.001855	0	0
HECA	51696	broad.mit.edu	37	6	139487510	139487510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:139487510G>A	uc003qin.3	+	1	646	c.361G>A	c.(361-363)Gag>Aag	p.E121K		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	121					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)		GTGCAACAACGAGCACTGCCC	0.627000														38			35		0	0	0.003755	0	0
LRP1B	53353	broad.mit.edu	37	2	141773430	141773430	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:141773430C>T	uc002tvj.1	-	12	2997	c.2025G>A	c.(2023-2025)agG>agA	p.R675R	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	675					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)		CCTTCTCAATCCTTCCCACGC	0.403000										TSP Lung(27;0.18)				60			24		0	0	0.004656	0	0
FBN3	84467	broad.mit.edu	37	19	8175829	8175829	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:8175829C>T	uc002mjf.3	-	32	4250	c.4233G>A	c.(4231-4233)ggG>ggA	p.G1411G		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1411	EGF-like 22; 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						CACAGAGGTTCCCTTGCGCAC	0.632000														61			32		0	0	0.009535	0	0
HYDIN	54768	broad.mit.edu	37	16	70954575	70954575	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:70954575G>A	uc002ezr.3	-	45	7852	c.7701C>T	c.(7699-7701)ttC>ttT	p.F2567F		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2568										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)				GGATGTCTAGGAAGGGTACGC	0.607000														14			7		0	0	0.001984	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182681	140182681	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:140182681G>A	uc003lhf.2	+	0	1899	c.1899G>A	c.(1897-1899)acG>acA	p.T633T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.T633T	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	644	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)			AGATCAGCACGACCCGTGCCC	0.662000														43			24		0	0	0.005443	0	0
KLK7	5650	broad.mit.edu	37	19	51483547	51483547	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:51483547G>A	uc002puo.3	-	3	520	c.418C>T	c.(418-420)Cct>Tct	p.P140S	KLK7_uc002pup.3_Missense_Mutation_p.P140S|KLK7_uc021uyj.1_Missense_Mutation_p.P133S|KLK7_uc010eok.3_Missense_Mutation_p.P68S	NM_139277	NP_001193982	P49862	KLK7_HUMAN	Homo sapiens kallikrein-related peptidase 7 (KLK7), transcript variant 2, mRNA.	140	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)		GTGGTTCCAGGGGGTTCGCAG	0.612000														34			6		0	0	0.004482	0	0
MYH8	4626	broad.mit.edu	37	17	10300232	10300232	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:10300232A>G	uc002gmm.2	-	30	4345	c.4250T>C	c.(4249-4251)cTt>cCt	p.L1417P	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1417					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						CGTCTTCTCAAGGGAAGCACA	0.498000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					52			23		0	0	0.003330	0	0
VIL1	7429	broad.mit.edu	37	2	219299275	219299275	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:219299275G>A	uc002vib.3	+	12	1549	c.1527G>A	c.(1525-1527)ttG>ttA	p.L509L	VIL1_uc010zke.2_Silent_p.L198L|VIL1_uc002via.3_Silent_p.L509L	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	509	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTAACAACTTGGAGACCGGGC	0.577000														55			25		0	0	0.006320	0	0
GPS2	2874	broad.mit.edu	37	17	7230054	7230054	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:7230054G>A	uc002gga.1	-	3	1075	c.1068C>T	c.(1066-1068)ccC>ccT	p.P356P	GPS2_uc002ggb.1_Silent_p.P356P|GPS2_uc002ggc.1_5'UTR	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			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)				TGTCCCGAAGGGGGCGATTGG	0.542000														27			15		0	0	0.007413	0	0
PSMB11	122706	broad.mit.edu	37	14	23511897	23511897	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:23511897C>T	uc010ake.1	+	0	522	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C		NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 11 (PSMB11), mRNA.	155					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|mRNA metabolic process|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			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CGGCTGGGACCGCTCTGGCCC	0.622000														49			17		0	0	0.004990	0	0
AADACL2	344752	broad.mit.edu	37	3	151475038	151475038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:151475038C>T	uc003ezc.3	+	4	982	c.862C>T	c.(862-864)Cct>Tct	p.P288S	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.P75S	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	288						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)			TATTCTTCTTCCTGAGAAGTA	0.408000														64			18		0	0	0.006122	0	0
NEK8	284086	broad.mit.edu	37	17	27064464	27064464	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:27064464G>A	uc002hcp.3	+	4	759	c.759G>A	c.(757-759)atG>atA	p.M253I		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	253	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)					GCCACATCATGGCACAGCCCC	0.657000														35			18		0	0	0.002780	0	0
ZNF398	57541	broad.mit.edu	37	7	148876498	148876498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:148876498C>T	uc011kum.2	+	6	1690	c.1549C>T	c.(1549-1551)Ccc>Tcc	p.P517S	ZNF398_uc011kul.2_Missense_Mutation_p.P341S|ZNF398_uc003wfl.3_Missense_Mutation_p.P512S	NM_020781	NP_065832	Q8TD17	ZN398_HUMAN	Homo sapiens zinc finger protein 398 (ZNF398), transcript variant 2, mRNA.	512					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)			GCGTCCTTACCCCTGCACTGA	0.612000														34			35		0	0	0.003271	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36197713	36197713	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:36197713A>G	uc001wtj.3	-	12	1982	c.1591T>C	c.(1591-1593)Ttt>Ctt	p.F531L	RALGAPA1_uc001wti.3_Missense_Mutation_p.F531L|RALGAPA1_uc010tpv.2_Missense_Mutation_p.F531L|RALGAPA1_uc010tpw.1_Missense_Mutation_p.F531L|RALGAPA1_uc001wtk.1_Missense_Mutation_p.F382L	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	531					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						TTTATAATAAACACCTAAGAC	0.299000														21			8		0	0	0.004482	0	0
FNDC1	84624	broad.mit.edu	37	6	159644600	159644600	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:159644600G>A	uc010kjv.3	+	6	1007	c.807G>A	c.(805-807)cgG>cgA	p.R269R	FNDC1_uc010kjw.1_Silent_p.R217R	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	269	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)		TCAGCGTCCGGGTTATGTCAT	0.458000														18			8		0	0	0.003080	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390289	61390289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:61390289G>A	uc002ljk.4	+	8	1003	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	SERPINB11_uc010xes.2_Missense_Mutation_p.E104K|SERPINB11_uc010dqd.3_Missense_Mutation_p.E165K|SERPINB11_uc002ljj.4_Missense_Mutation_p.E165K|SERPINB11_uc010dqe.3_Missense_Mutation_p.E78K|SERPINB11_uc010dqf.3_Missense_Mutation_p.E77K	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	279					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TAACATGATGGAAAGAGAAGT	0.418000														15			4		0	0	0.009096	0	0
GRIN3A	116443	broad.mit.edu	37	9	104448938	104448938	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:104448938C>T	uc004bbp.2	-	1	1845	c.1244G>A	c.(1243-1245)aGc>aAc	p.S415N	GRIN3A_uc004bbq.1_Missense_Mutation_p.S415N	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	415					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	p.S415R(1)		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)	GTTCATCGTGCTGGGAATGAG	0.478000														55			30		0	0	0.007291	0	0
TRIM69	140691	broad.mit.edu	37	15	45050909	45050909	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:45050909G>A	uc001zuf.2	+	4	1565	c.670G>A	c.(670-672)Gag>Aag	p.E224K	TRIM69_uc001zug.1_Missense_Mutation_p.E224K|TRIM69_uc001zuh.1_Missense_Mutation_p.E65K|TRIM69_uc001zui.1_Missense_Mutation_p.E20K|TRIM69_uc010bdy.1_Missense_Mutation_p.E20K	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA.	224					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)		CATTTTAACTGAGCTCCGGGA	0.463000														42			8		0	0	0.003080	0	0
KRTAP1-1	81851	broad.mit.edu	37	17	39197308	39197308	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:39197308G>A	uc002hvw.1	-	0	406	c.342C>T	c.(340-342)acC>acT	p.T114T		NM_030967	NP_112229	Q07627	KRA11_HUMAN	Homo sapiens keratin associated protein 1-1 (KRTAP1-1), mRNA.	114						extracellular region|keratin filament				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACCTGATACGGGTGCTCACAG	0.662000														33			18		0	0	0.006122	0	0
SPATA18	132671	broad.mit.edu	37	4	52943113	52943113	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:52943113C>T	uc003gzl.3	+	6	1205	c.927C>T	c.(925-927)tcC>tcT	p.S309S	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Silent_p.S277S|SPATA18_uc003gzk.1_Silent_p.S309S	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	309	Ser-rich.				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)			TCAGCGATTCCTATTCCCAGG	0.632000														26			12		0	0	0.003163	0	0
PRIC285	85441	broad.mit.edu	37	20	62194489	62194489	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:62194489G>A	uc002yfm.2	-	8	6578	c.5686C>T	c.(5686-5688)Ctg>Ttg	p.L1896L	PRIC285_uc002yfl.1_Silent_p.L1327L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1896					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)			CTCGGTACCAGGAAGCCGTGC	0.692000														4			4		0	0	0.009096	0	0
JPH1	56704	broad.mit.edu	37	8	75227656	75227656	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:75227656G>A	uc003yae.3	-	1	619	c.579C>T	c.(577-579)ttC>ttT	p.F193F	JPH1_uc003yaf.3_Silent_p.F193F|JPH1_uc003yag.1_Silent_p.F57F	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	193					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		p.G192A(1)		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)			AGTTGAGCACGAAACCGCCGC	0.677000														38			25		0	0	0.003954	0	0
OR2T10	127069	broad.mit.edu	37	1	248756757	248756757	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:248756757G>A	uc010pzn.2	-	0	313	c.313C>T	c.(313-315)Ctg>Ttg	p.L105L		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	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)			CCCAACTGCAGGTAGAAGTAC	0.537000														11			14		0	0	0.001855	0	0
EAF2	55840	broad.mit.edu	37	3	121591510	121591510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:121591510C>T	uc003een.3	+	4	710	c.611C>T	c.(610-612)tCc>tTc	p.S204F	EAF2_uc003eeo.3_Missense_Mutation_p.S74F	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	204	Necessary for transactivation activity.|Ser-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding	p.S204S(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		GATTGCAAATCCTCTACTTCT	0.398000														79			19		0	0	0.007413	0	0
MYT1L	23040	broad.mit.edu	37	2	1914070	1914070	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:1914070C>T	uc002qxe.3	-	12	2586	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	MYT1L_uc002qxd.3_Missense_Mutation_p.E585K|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	587					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)		TGGTGCTTTTCCTGTGCCTTG	0.592000														40			15		0	0	0.004007	0	0
FAM120C	54954	broad.mit.edu	37	X	54209044	54209044	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:54209044C>T	uc004dsz.4	-	0	671	c.588G>A	c.(586-588)ctG>ctA	p.L196L	FAM120C_uc011moh.2_Silent_p.L196L|FAM120C_uc004dta.2_Silent_p.L196L	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	196										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						GTCCCACGATCAGTTGCGCTG	0.706000														19			8		0	0	0.004482	0	0
COBLL1	22837	broad.mit.edu	37	2	165551044	165551044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:165551044G>A	uc002ucp.3	-	11	3194	c.2972C>T	c.(2971-2973)cCa>cTa	p.P991L	COBLL1_uc002ucq.3_Missense_Mutation_p.P953L|COBLL1_uc010zcw.2_Missense_Mutation_p.P1058L|COBLL1_uc010zcx.2_Missense_Mutation_p.P999L|COBLL1_uc002ucn.3_Missense_Mutation_p.P419L|COBLL1_uc002uco.3_Missense_Mutation_p.P722L	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	1029										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						CACAGGTTTTGGAGCTATGGG	0.468000														59			25		0	0	0.005443	0	0
CYP4F11	57834	broad.mit.edu	37	19	16024623	16024623	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:16024623G>A	uc002nbu.2	-	12	1530	c.1494C>T	c.(1492-1494)ccC>ccT	p.P498P	CYP4F11_uc010eab.1_3'UTR|CYP4F11_uc002nbt.2_Silent_p.P498P	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	498					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						GTTTCCTGCGGGGTTCAGTGT	0.637000														15			11		0	0	0.008291	0	0
LPIN3	64900	broad.mit.edu	37	20	39980535	39980535	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:39980535A>T	uc010ggh.3	+	7	1271	c.1180A>T	c.(1180-1182)Aat>Tat	p.N394Y	LPIN3_uc002xjx.3_Missense_Mutation_p.N393Y|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	393					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GGACTCTGAGAATGCAGCGCT	0.582000														48			19		0	0	0.007413	0	0
PHF21B	112885	broad.mit.edu	37	22	45279175	45279175	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:45279175C>T	uc003bfn.3	-	12	1538	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	PHF21B_uc011aqk.2_Missense_Mutation_p.E409K|PHF21B_uc003bfm.3_Missense_Mutation_p.E259K|PHF21B_uc011aql.2_Missense_Mutation_p.E421K	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	463							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)		GTCTTCAACTCCAGGCATTTC	0.642000														51			14		0	0	0.002450	0	0
POTEM	641455	broad.mit.edu	37	14	20019973	20019973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:20019973G>A	uc001vwc.3	-	0	300	c.248C>T	c.(247-249)tCt>tTt	p.S83F	POTEM_uc001vwb.3_Non-coding_Transcript	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN	Homo sapiens POTE ankyrin domain family, member M (POTEM), mRNA.	83										endometrium(4)|kidney(1)|lung(4)	9						GTGGTCTCCAGAAGTGCCCAC	0.592000														190			28		0	0	0.003610	0	0
RRAD	6236	broad.mit.edu	37	16	66957471	66957471	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:66957471G>A	uc002eqn.2	-	3	749	c.597C>T	c.(595-597)atC>atT	p.I199I	RRAD_uc002eqo.2_Silent_p.I199I	NM_001128850	NP_004156	P55042	RAD_HUMAN	Homo sapiens Ras-related associated with diabetes (RRAD), transcript variant 1, mRNA.	199					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)		TGCCCACGAGGATGATGGGCA	0.622000														70			36		0	0	0.006230	0	0
LAMA1	284217	broad.mit.edu	37	18	7023254	7023254	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:7023254G>A	uc002knm.3	-	18	2704	c.2610C>T	c.(2608-2610)tgC>tgT	p.C870C	LAMA1_uc010wzj.2_Silent_p.C346C	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	870	Laminin EGF-like 8.				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)	GGCACTTCAGGCACTCCCCGG	0.612000														27			13		0	0	0.001855	0	0
MMP10	4319	broad.mit.edu	37	11	102650040	102650040	+	Missense_Mutation	SNP	C	T	T	rs142065601		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:102650040C>T	uc001phg.2	-	2	437	c.400G>A	c.(400-402)Gag>Aag	p.E134K		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	134					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)		AGAGCTTTCTCAATGGCAGAA	0.408000														47			33		0	0	0.005524	0	0
GMEB2	26205	broad.mit.edu	37	20	62221454	62221454	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:62221454G>C	uc002yfp.1	-	8	2060	c.1581C>G	c.(1579-1581)caC>caG	p.H527Q	GMEB2_uc002yfo.1_Missense_Mutation_p.H449Q|GMEB2_uc002yfq.1_Missense_Mutation_p.H527Q	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 2 (GMEB2), mRNA.	527					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	p.H527H(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			ACTTCCGCTCGTGGTCCTCTG	0.711000														30			8		0	0	0.003080	0	0
PNPLA8	50640	broad.mit.edu	37	7	108143005	108143005	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:108143005G>A	uc003vff.1	-	5	1695	c.1288C>T	c.(1288-1290)Cta>Tta	p.L430L	PNPLA8_uc003vfi.1_Silent_p.L330L|PNPLA8_uc003vfh.1_Silent_p.L430L|PNPLA8_uc003vfj.1_Silent_p.L430L|PNPLA8_uc003vfk.1_Silent_p.L330L	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	Homo sapiens patatin-like phospholipase domain containing 8 (PNPLA8), transcript variant 1, mRNA.	430					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						TAGCCAATTAGGGCCAAAATT	0.368000														48			20		0	0	0.008871	0	0
PRR12	57479	broad.mit.edu	37	19	50098289	50098289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:50098289G>A	uc002poo.4	+	3	697	c.697G>A	c.(697-699)Gac>Aac	p.D233N		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	19	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)		TGGCCCCCCAGACCCACCACC	0.697000														10			8		0	0	0.003080	0	0
KIAA0195	9772	broad.mit.edu	37	17	73488651	73488651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:73488651C>T	uc010wsa.2	+	13	1915	c.1723C>T	c.(1723-1725)Ccc>Tcc	p.P575S	KIAA0195_uc002jnz.4_Missense_Mutation_p.P565S|KIAA0195_uc010wsb.2_Missense_Mutation_p.P205S|KIAA0195_uc002job.4_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	565					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)			CCAGCAGAACCCCTCCTGCAT	0.592000														55			31		0	0	0.008361	0	0
CFLAR	8837	broad.mit.edu	37	2	202025549	202025549	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:202025549C>T	uc002uxb.4	+	8	1653	c.1188C>T	c.(1186-1188)caC>caT	p.H396H	CFLAR_uc010zhk.2_Silent_p.H300H|CFLAR_uc010zhl.2_Silent_p.H300H|CFLAR_uc002uxc.4_Silent_p.H361H|CFLAR_uc010fsw.2_Non-coding_Transcript|CFLAR_uc002uxd.4_Silent_p.H396H|CFLAR_uc010fsx.3_Intron|CFLAR_uc010fsy.3_Non-coding_Transcript|CFLAR_uc002uxf.3_Silent_p.H396H|CFLAR_uc010zhm.2_Silent_p.H300H|CFLAR_uc010fsz.3_Silent_p.H151H|CFLAR_uc002uxg.3_Silent_p.H151H	NM_003879	NP_001189446	O15519	CFLAR_HUMAN	Homo sapiens CASP8 and FADD-like apoptosis regulator (CFLAR), transcript variant 1, mRNA.	396	Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|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						GCACAGTTCACCGAGAAGCTG	0.582000														30			10		0	0	0.006214	0	0
HSD3B2	3284	broad.mit.edu	37	1	119964988	119964988	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:119964988C>T	uc001ehs.3	+	2	1637	c.864C>T	c.(862-864)acC>acT	p.T288T	HSD3B2_uc021ost.1_Silent_p.T288T|HSD3B2_uc001eht.3_Silent_p.T288T|HSD3B2_uc001ehu.3_Intron	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	288					androgen 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			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	TTCCTTTAACCCTGATGTACT	0.478000														76			31		0	0	0.002096	0	0
COMMD6	170622	broad.mit.edu	37	13	76101961	76101961	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:76101961G>A	uc001vjn.1	-	3	284	c.234C>T	c.(232-234)ctC>ctT	p.L78L	COMMD6_uc001vjo.1_Intron|COMMD6_uc010aet.1_Intron	NM_203497	NP_987093	Q7Z4G1	COMD6_HUMAN	Homo sapiens COMM domain containing 6 (COMMD6), transcript variant 1, mRNA.	69	COMM.					cytoplasm|nucleus	protein binding			breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		aagcagaaaggagactggagg	0.408000														20			5		0	0	0.001168	0	0
USP19	10869	broad.mit.edu	37	3	49149153	49149153	+	Silent	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:49149153A>G	uc003cwd.2	-	19	3007	c.2688T>C	c.(2686-2688)ggT>ggC	p.G896G	USP19_uc003cwa.3_Silent_p.G704G|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Silent_p.G999G|USP19_uc011bcg.2_Silent_p.G987G|USP19_uc003cwc.2_Silent_p.G654G|USP19_uc011bch.2_Silent_p.G997G	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	896					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)		CCTCCAGGGAACCTGTGGAGA	0.627000														42			12		0	0	0.001855	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57869688	57869688	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:57869688G>T	uc001sod.3	-	12	1645	c.1452C>A	c.(1450-1452)ttC>ttA	p.F484L	ARHGAP9_uc001sny.3_5'Flank|ARHGAP9_uc001snz.3_Missense_Mutation_p.F229L|ARHGAP9_uc001soa.3_Missense_Mutation_p.F83L|ARHGAP9_uc001sob.3_Missense_Mutation_p.F413L|ARHGAP9_uc001soc.3_Missense_Mutation_p.F413L|ARHGAP9_uc001soe.1_Missense_Mutation_p.F492L	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	413					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)			ACTGCAGCAGGAACTCGTGGC	0.647000														17			9		1.33987e-11	1.36312e-11	0.008291	1	0
NDN	4692	broad.mit.edu	37	15	23932279	23932279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:23932279G>A	uc001ywk.3	-	0	172	c.86C>T	c.(85-87)tCg>tTg	p.S29L		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	29					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		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;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AACCCCCTCCGAAACCCCAGG	0.687000									Prader-Willi syndrome					14			7		0	0	0.001984	0	0
BRWD3	254065	broad.mit.edu	37	X	79943581	79943581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:79943581G>A	uc004edt.3	-	33	4114	c.3851C>T	c.(3850-3852)tCa>tTa	p.S1284L	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.S1113L|BRWD3_uc004edq.3_Missense_Mutation_p.S880L|BRWD3_uc010nmj.2_Missense_Mutation_p.S880L|BRWD3_uc004edr.3_Missense_Mutation_p.S954L|BRWD3_uc004eds.3_Missense_Mutation_p.S880L|BRWD3_uc004edo.3_Missense_Mutation_p.S880L|BRWD3_uc004edu.3_Missense_Mutation_p.S954L|BRWD3_uc004edv.3_Missense_Mutation_p.S880L|BRWD3_uc004edw.3_Missense_Mutation_p.S880L|BRWD3_uc004edx.3_Missense_Mutation_p.S880L|BRWD3_uc004edy.3_Missense_Mutation_p.S880L|BRWD3_uc004edz.3_Missense_Mutation_p.S954L|BRWD3_uc004eea.3_Missense_Mutation_p.S954L|BRWD3_uc004eeb.3_Missense_Mutation_p.S880L	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1284										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						TCTTCCAGATGAAGTACCAGG	0.368000														66			42		0	0	0.003610	0	0
OR4E2	26686	broad.mit.edu	37	14	22134151	22134151	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:22134151C>T	uc010tmd.2	+	0	855	c.855C>T	c.(853-855)ttC>ttT	p.F285F		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TGAATCCCTTCATTTACACCT	0.453000														28			4		0	0	0.000602	0	0
CYP2C8	1558	broad.mit.edu	37	10	96802787	96802787	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:96802787G>A	uc001kkb.3	-	6	1104	c.1009C>T	c.(1009-1011)Ccc>Tcc	p.P337S	CYP2C8_uc010qoa.2_Missense_Mutation_p.P267S|CYP2C8_uc010qoc.2_Missense_Mutation_p.P235S|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.P251S|CYP2C8_uc021pwl.1_Missense_Mutation_p.P267S|CYP2C8_uc010qod.1_Missense_Mutation_p.P251S	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	337					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TGCATGCAGGGGCTCCTGTGT	0.483000														52			22		0	0	0.002780	0	0
POU3F2	5454	broad.mit.edu	37	6	99283557	99283557	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:99283557C>T	uc003ppe.3	+	0	978	c.808C>T	c.(808-810)Ctg>Ttg	p.L270L		NM_005604	NP_005595	P20265	PO3F2_HUMAN	Homo sapiens POU class 3 homeobox 2 (POU3F2), mRNA.	270	POU-specific.				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)		CTCGGACGACCTGGAGCAGTT	0.697000														66			51		0	0	0.003610	0	0
ATP6V1E1	529	broad.mit.edu	37	22	18082825	18082825	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:18082825G>A	uc002zmr.1	-	5	590	c.403C>T	c.(403-405)Cgt>Tgt	p.R135C	ATP6V1E1_uc002zms.1_Missense_Mutation_p.R105C|ATP6V1E1_uc002zmt.1_Missense_Mutation_p.R113C	NM_001696	NP_001687	P36543	VATE1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1 (ATP6V1E1), transcript variant 1, mRNA.	135					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	10		all_epithelial(15;0.206)		Lung(27;0.19)		TTCCTGCAACGAACAATCATT	0.438000														27			12		0	0	0.002450	0	0
LILRB3	11025	broad.mit.edu	37	19	54802747	54802747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:54802747G>A	uc002qfd.3	-	4	786	c.694C>T	c.(694-696)Ccg>Tcg	p.P232S	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Missense_Mutation_p.P168S	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	231	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACAGGACCCGGCTGCACTGAG	0.572000														6			20		0	0	0.002780	0	0
RHOXF1	158800	broad.mit.edu	37	X	119246802	119246802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:119246802C>T	uc004esk.1	-	1	496	c.421G>A	c.(421-423)Ggt>Agt	p.G141S	AK123976_uc004esi.1_Intron	NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN	Homo sapiens Rhox homeobox family, member 1 (RHOXF1), mRNA.	141					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						TCAGTCACACCTAAGTTTTCG	0.403000														149			54		0	0	0.003610	0	0
SAMD7	344658	broad.mit.edu	37	3	169644946	169644946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:169644946C>T	uc003fgd.3	+	5	1163	c.896C>T	c.(895-897)cCa>cTa	p.P299L	SAMD7_uc003fge.3_Missense_Mutation_p.P299L|SAMD7_uc011bpo.2_Missense_Mutation_p.P200L	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	299										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GTTTGCCCTCCAGTTCCTCGA	0.512000														75			22		0	0	0.003954	0	0
FFAR1	2864	broad.mit.edu	37	19	35842971	35842971	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:35842971G>A	uc002nzc.2	+	0	527	c.517G>A	c.(517-519)Gcc>Acc	p.A173T		NM_005303	NP_005294	O14842	FFAR1_HUMAN	Homo sapiens free fatty acid receptor 1 (FFAR1), mRNA.	173					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	CTGCCTGGAGGCCTGGGACCC	0.647000														30			14		0	0	0.003163	0	0
TCRBV21S1	0	broad.mit.edu	37	7	142223908	142223908	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142223908C>T	uc003vyi.2	-	1	276	c.259G>A	c.(259-261)Gag>Aag	p.E87K	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		TTGAGCCTCTCTGCAGAAAAT	0.532000														153			23		0	0	0.002299	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101813514	101813514	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:101813514G>A	uc003knn.3	-	2	840	c.668C>T	c.(667-669)tCa>tTa	p.S223L	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_Missense_Mutation_p.S223L|SLCO6A1_uc003knq.3_Intron	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	223						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)		TGATTGGAATGATATACCACT	0.348000														51			26		0	0	0.006320	0	0
ZNF560	147741	broad.mit.edu	37	19	9584930	9584930	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:9584930C>T	uc002mlp.1	-	3	312	c.102G>A	c.(100-102)caG>caA	p.Q34Q	ZNF560_uc010dwr.1_5'UTR	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	34	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q34L(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ATAAGTTTCTCTGAACTGGGT	0.433000														53			23		0	0	0.002299	0	0
HEPH	9843	broad.mit.edu	37	X	65478819	65478819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:65478819C>T	uc011moz.2	+	17	3333	c.3196C>T	c.(3196-3198)Cgg>Tgg	p.R1066W	HEPH_uc004dwn.3_Missense_Mutation_p.R1015W|HEPH_uc004dwo.3_Missense_Mutation_p.R745W|HEPH_uc010nkr.3_Missense_Mutation_p.R823W|HEPH_uc011mpa.2_Missense_Mutation_p.R1015W	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	1012	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			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						CTTCCTCTATCGGGTGAGCTG	0.468000														25			9		0	0	0.008291	0	0
OR4A15	81328	broad.mit.edu	37	11	55135906	55135906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:55135906C>T	uc010rif.2	+	0	547	c.547C>T	c.(547-549)Cac>Tac	p.H183Y		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	183					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						AGGCTTTCTTCACTCATTGGT	0.428000														64			25		0	0	0.005443	0	0
ANKRD7	56311	broad.mit.edu	37	7	117876961	117876961	+	Silent	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:117876961T>C	uc003vji.3	+	4	866	c.693T>C	c.(691-693)ttT>ttC	p.F231F		NM_019644	NP_062618	Q92527	ANKR7_HUMAN	Homo sapiens ankyrin repeat domain 7 (ANKRD7), mRNA.	231					male gonad development			p.L231I(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						GGAATATGTTTATTTCCATGG	0.398000														165			55		0	0	0.003610	0	0
SKIV2L	6499	broad.mit.edu	37	6	31932030	31932030	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:31932030C>T	uc003nyn.1	+	16	2271	c.1882C>T	c.(1882-1884)Ctg>Ttg	p.L628L	SKIV2L_uc011dou.1_Silent_p.L470L|SKIV2L_uc011dov.1_Silent_p.L435L	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	628	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						GTCAGAGCTCCTGAATCGCGG	0.592000														252			108		0	0	0.003610	0	0
KLHL14	57565	broad.mit.edu	37	18	30254720	30254720	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:30254720T>A	uc002kxm.1	-	8	2175	c.1787A>T	c.(1786-1788)aAa>aTa	p.K596I		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	596						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCAGGTTCCTTTCTCTGGACA	0.468000														132			56		0	0	0.003610	0	0
BRWD3	254065	broad.mit.edu	37	X	79942376	79942376	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:79942376G>A	uc004edt.3	-	34	4254	c.3991C>T	c.(3991-3993)Ctt>Ttt	p.L1331F	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.L1160F|BRWD3_uc004edq.3_Missense_Mutation_p.L927F|BRWD3_uc010nmj.2_Missense_Mutation_p.L927F|BRWD3_uc004edr.3_Missense_Mutation_p.L1001F|BRWD3_uc004eds.3_Missense_Mutation_p.L927F|BRWD3_uc004edo.3_Missense_Mutation_p.L927F|BRWD3_uc004edu.3_Missense_Mutation_p.L1001F|BRWD3_uc004edv.3_Missense_Mutation_p.L927F|BRWD3_uc004edw.3_Missense_Mutation_p.L927F|BRWD3_uc004edx.3_Missense_Mutation_p.L927F|BRWD3_uc004edy.3_Missense_Mutation_p.L927F|BRWD3_uc004edz.3_Missense_Mutation_p.L1001F|BRWD3_uc004eea.3_Missense_Mutation_p.L1001F|BRWD3_uc004eeb.3_Missense_Mutation_p.L927F	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1331	Bromo 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						TAAGAAAGAAGATCAGCTGGC	0.358000														44			16		0	0	0.004007	0	0
TLR4	7099	broad.mit.edu	37	9	120475004	120475004	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:120475004C>T	uc004bjz.3	+	2	889	c.598C>T	c.(598-600)Caa>Taa	p.Q200*	TLR4_uc004bkb.3_5'UTR|TLR4_uc004bka.3_Nonsense_Mutation_p.Q160*	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	200					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|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 production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|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	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GGTTCTACATCAAATGCCCCT	0.393000														54			24		0	0	0.002780	0	0
CS	1431	broad.mit.edu	37	12	56666955	56666955	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:56666955C>T	uc001sks.1	-	10	1504	c.1314G>A	c.(1312-1314)tgG>tgA	p.W438*	CS_uc010sql.1_Nonsense_Mutation_p.W425*|CS_uc001skr.1_Nonsense_Mutation_p.W372*|CS_uc001skt.1_Nonsense_Mutation_p.W393*	NM_004077	NP_004068	O75390	CISY_HUMAN	Homo sapiens citrate synthase (CS), nuclear gene encoding mitochondrial protein, mRNA.	438					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		AGGCTCGGCTCCAGATGAGCT	0.502000														37			24		0	0	0.003330	0	0
FMNL3	91010	broad.mit.edu	37	12	50045760	50045760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:50045760G>A	uc001ruv.1	-	13	1793	c.1559C>T	c.(1558-1560)cCa>cTa	p.P520L	FMNL3_uc001ruw.1_Missense_Mutation_p.P469L|FMNL3_uc001rut.1_Missense_Mutation_p.P86L|FMNL3_uc001ruu.1_Missense_Mutation_p.P370L	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA.	520	Pro-rich.				actin cytoskeleton organization		Rho GTPase binding|actin binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						AGCTGGTGGTGGAGGAAGAGG	0.657000														7			4		0	0	0.009096	0	0
HDAC9	9734	broad.mit.edu	37	7	18788706	18788706	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:18788706G>A	uc003sui.3	+	12	2029	c.1988G>A	c.(1987-1989)cGa>cAa	p.R663Q	HDAC9_uc003sue.3_Missense_Mutation_p.R660Q|HDAC9_uc011jyd.2_Missense_Mutation_p.R660Q|HDAC9_uc003suh.3_Missense_Mutation_p.R660Q|HDAC9_uc003suj.3_Missense_Mutation_p.R619Q|HDAC9_uc003sua.1_Missense_Mutation_p.R638Q|HDAC9_uc010kue.1_Missense_Mutation_p.R315Q	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	660	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	p.R663Q(3)		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)	CATGCTGGACGAATACAGAGT	0.433000														22			10		0	0	0.008291	0	0
CDCP1	64866	broad.mit.edu	37	3	45127448	45127448	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:45127448G>A	uc003com.3	-	8	2328	c.2193C>T	c.(2191-2193)tcC>tcT	p.S731S		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	731						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)		CATACACATGGGAGTCATTGT	0.527000														142			52		0	0	0.003610	0	0
APOH	350	broad.mit.edu	37	17	64225497	64225497	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:64225497T>C	uc002jfn.4	-	0	60	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	1					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)			GGAGAAATCATTGTGGATGAG	0.378000														12			6		0	0	0.001984	0	0
APOB	338	broad.mit.edu	37	2	21231384	21231384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:21231384C>T	uc002red.3	-	25	8484	c.8356G>A	c.(8356-8358)Gaa>Aaa	p.E2786K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2786					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)	ATACCTGCTTCGTTTGCTGAG	0.403000														445			204		0	0	0.003610	0	0
MKRN3	7681	broad.mit.edu	37	15	23811001	23811001	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:23811001G>A	uc001ywh.4	+	0	548	c.72G>A	c.(70-72)agG>agA	p.R24R	MKRN3_uc001ywi.3_Silent_p.R24R|MKRN3_uc010ayi.1_Silent_p.R24R	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	24						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.A23V(2)		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)		AGGCAGCAAGGGAGGGTGTGT	0.672000														24			16		0	0	0.008871	0	0
PTPRD	5789	broad.mit.edu	37	9	8492925	8492925	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:8492925C>T	uc003zkk.3	-	26	3147	c.2404G>A	c.(2404-2406)Gcc>Acc	p.A802T	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	802	Fibronectin type-III 5.				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)		GTTGTGTAGGCTGTGACGGTG	0.473000										TSP Lung(15;0.13)				42			26		0	0	0.008361	0	0
OR5D13	390142	broad.mit.edu	37	11	55541375	55541375	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:55541375G>A	uc010ril.2	+	0	462	c.462G>A	c.(460-462)ggG>ggA	p.G154G		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)				ATACATGGGGGATAGTGTGCT	0.398000														71			60		0	0	0.003610	0	0
CWH43	80157	broad.mit.edu	37	4	49032892	49032892	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:49032892G>A	uc003gyv.3	+	10	1605	c.1423G>A	c.(1423-1425)Ggg>Agg	p.G475R	CWH43_uc011bzl.2_Missense_Mutation_p.G448R	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	475					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						GCCCTATATGGGGAACAATGA	0.418000														86			32		0	0	0.002096	0	0
TPM1	7168	broad.mit.edu	37	15	63349295	63349295	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:63349295A>T	uc002alm.3	+	3	669	c.478A>T	c.(478-480)Aag>Tag	p.K160*	TPM1_uc002alg.3_Nonsense_Mutation_p.K118*|TPM1_uc002alh.3_Nonsense_Mutation_p.K118*|TPM1_uc002ali.3_Nonsense_Mutation_p.K118*|TPM1_uc002alj.3_Nonsense_Mutation_p.K118*|TPM1_uc002alk.3_Nonsense_Mutation_p.K118*|TPM1_uc002all.3_Nonsense_Mutation_p.K118*|TPM1_uc010uie.2_Nonsense_Mutation_p.K118*|TPM1_uc002alp.3_Nonsense_Mutation_p.K118*|TPM1_uc010uif.2_Nonsense_Mutation_p.K82*|TPM1_uc002alr.3_Nonsense_Mutation_p.K82*|TPM1_uc002als.3_Nonsense_Mutation_p.K82*|TPM1_uc010uig.2_Nonsense_Mutation_p.K82*|TPM1_uc002alt.3_Nonsense_Mutation_p.K82*	NM_001018008	NP_001018008	P09493	TPM1_HUMAN	Homo sapiens tropomyosin 1 (alpha) (TPM1), transcript variant 6, mRNA.	118					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						GGAAGCTGAGAAGGCAGCAGA	0.537000														65			29		0	0	0.008361	0	0
OR2F2	135948	broad.mit.edu	37	7	143633243	143633243	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:143633243G>A	uc011ktv.2	+	0	918	c.918G>A	c.(916-918)gaG>gaA	p.E306E		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	306					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)					AACTATTAGAGAAATTCTCTG	0.418000														38			17		0	0	0.006122	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40814	40814	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrGL000218.1:40814T>C	uc011mfn.2	-	2	205	c.116A>G	c.(115-117)cAc>cGc	p.H39R	LOC100233156_uc003jah.2_Missense_Mutation_p.H39R					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GCGCTGGGCGTGGCACAGATT	0.667000														10			3		0	0	0.001168	0	0
FAM133A	286499	broad.mit.edu	37	X	92965002	92965002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:92965002C>T	uc022bzw.1	+	2	1021	c.584C>T	c.(583-585)tCa>tTa	p.S195L	FAM133A_uc022bzu.1_Missense_Mutation_p.S195L|FAM133A_uc004efr.2_Missense_Mutation_p.S195L|FAM133A_uc022bzv.1_Missense_Mutation_p.S195L|FAM133A_uc022bzx.1_Missense_Mutation_p.S195L	NM_001171111	NP_775969	Q8N9E0	F133A_HUMAN	Homo sapiens family with sequence similarity 133, member A (FAM133A), transcript variant 4, mRNA.	195	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						TCTGAGTCCTCATCTGAATCA	0.358000														11			4		0	0	0.009096	0	0
TGFBI	7045	broad.mit.edu	37	5	135397195	135397195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:135397195G>A	uc003lbf.4	+	14	2074	c.1913G>A	c.(1912-1914)aGa>aAa	p.R638K	TGFBI_uc003lbg.4_Missense_Mutation_p.R371K|TGFBI_uc003lbh.4_Missense_Mutation_p.R464K|TGFBI_uc011cyb.2_Missense_Mutation_p.R464K|TGFBI_uc010jee.3_Non-coding_Transcript	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	638					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)			TCAGCCAACAGACCTCAGGAA	0.493000														13			3		0	0	0.004672	0	0
SRPX	8406	broad.mit.edu	37	X	38020264	38020264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:38020264C>T	uc004ddy.2	-	5	829	c.697G>A	c.(697-699)Gga>Aga	p.G233R	SRPX_uc011mki.2_Missense_Mutation_p.G233R|SRPX_uc004ddz.2_Missense_Mutation_p.G213R|SRPX_uc011mkh.2_Missense_Mutation_p.G174R	NM_006307	NP_006298	P78539	SRPX_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA.	233	HYR.				cell adhesion	cell surface|membrane		p.E232D(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TTGTGGTCTCCTTCTGGAAAG	0.418000														51			25		0	0	0.003954	0	0
BCR	613	broad.mit.edu	37	22	23657640	23657640	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:23657640C>T	uc002zww.3	+	22	4343	c.3747C>T	c.(3745-3747)ttC>ttT	p.F1249F	BCR_uc002zwx.3_Silent_p.F1205F|BCR_uc011aiy.2_Silent_p.F838F	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	1249					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						TGCTGTACTTCCTGCAGCTGG	0.622000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									51			17		0	0	0.010504	0	0
CCDC60	160777	broad.mit.edu	37	12	119978481	119978481	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:119978481G>A	uc001txe.3	+	13	2079	c.1614G>A	c.(1612-1614)cgG>cgA	p.R538R	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	538								p.S537R(1)		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)		TGCAGAGCCGGATCAACATAC	0.522000														77			16		0	0	0.004990	0	0
NUP98	4928	broad.mit.edu	37	11	3744453	3744453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:3744453G>A	uc001lyh.3	-	15	2501	c.2080C>T	c.(2080-2082)Cat>Tat	p.H694Y	NUP98_uc001lyi.3_Missense_Mutation_p.H694Y|NUP98_uc001lyj.2_Missense_Mutation_p.H694Y|NUP98_uc001lyk.2_Missense_Mutation_p.H711Y	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	711					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.H694N(2)		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)		GACTCATCATGAAAAGACGTT	0.423000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									29			28		0	0	0.008361	0	0
AADAT	51166	broad.mit.edu	37	4	171010790	171010790	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:171010790G>A	uc003isr.3	-	0	394	c.52C>T	c.(52-54)Ccc>Tcc	p.P18S	AADAT_uc003iss.3_Missense_Mutation_p.P18S|AADAT_uc003ist.3_Missense_Mutation_p.P18S	NM_016228	NP_872603	Q8N5Z0	AADAT_HUMAN	Homo sapiens aminoadipate aminotransferase (AADAT), transcript variant 1, mRNA.	18					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GTCCGGATGGGAGAAGGGTTT	0.557000											OREG0016403	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		130			51		0	0	0.003610	0	0
MYH13	8735	broad.mit.edu	37	17	10258027	10258027	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:10258027G>A	uc002gmk.1	-	10	1065	c.975C>T	c.(973-975)atC>atT	p.I325I		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	325	Myosin head-like.				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						CACTGTCATCGATACTGGCTA	0.453000														64			27		0	0	0.009535	0	0
TTN	7273	broad.mit.edu	37	2	179597410	179597410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179597410C>T	uc021vsy.1	-	52	12871	c.12646G>A	c.(12646-12648)Gat>Aat	p.D4216N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D877N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5143							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)			GGCAGAACATCCTTTGAGCCG	0.448000														16			6		0	0	0.003080	0	0
TDRKH	11022	broad.mit.edu	37	1	151754020	151754020	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:151754020C>T	uc009wnb.1	-	2	350	c.168G>A	c.(166-168)gaG>gaA	p.E56E	TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Silent_p.E56E|TDRKH_uc001ezc.4_Silent_p.E56E|TDRKH_uc001eza.4_Silent_p.E56E|TDRKH_uc001ezd.4_Silent_p.E56E|TDRKH_uc010pdn.1_5'UTR	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	56	KH 1.						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)			GAACCCGCATCTCTATCTCAA	0.463000														114			22		0	0	0.002299	0	0
FAM55D	54827	broad.mit.edu	37	11	114453576	114453576	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:114453576G>A	uc001ppc.3	-	2	445	c.264C>T	c.(262-264)ttC>ttT	p.F88F	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.	88						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)		TCACGTGGGTGAAAGGTCTGG	0.498000														66			46		0	0	0.003610	0	0
UNC5A	90249	broad.mit.edu	37	5	176305340	176305340	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:176305340C>T	uc003mey.3	+	11	2157	c.1965C>T	c.(1963-1965)tcC>tcT	p.S655S		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	655					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)			TGCGCCTATCCATCCACGATG	0.622000														65			51		0	0	0.003610	0	0
OR2F2	135948	broad.mit.edu	37	7	143633090	143633090	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:143633090G>A	uc011ktv.2	+	0	765	c.765G>A	c.(763-765)acG>acA	p.T255T		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	255					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)					ACGGCACAACGATTTTCACTT	0.512000														81			25		0	0	0.005443	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348607	30348607	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:30348607C>T	uc002hgu.3	+	0	453	c.442C>T	c.(442-444)Cag>Tag	p.Q148*	LRRC37B_uc010wbx.2_Nonsense_Mutation_p.Q66*|LRRC37B_uc010csu.3_Nonsense_Mutation_p.Q148*	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	148						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)				GGCCCTAGTTCAGCTTCCTCG	0.507000														66			26		0	0	0.004656	0	0
FAM19A1	407738	broad.mit.edu	37	3	68466547	68466547	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:68466547G>A	uc003dnd.3	+	2	452	c.236G>A	c.(235-237)aGa>aAa	p.R79K	FAM19A1_uc003dne.3_Missense_Mutation_p.R79K|FAM19A1_uc003dng.3_Missense_Mutation_p.R79K	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	79						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GGAACAACAAGAAACCGGCCT	0.418000														65			16		0	0	0.006122	0	0
INSRR	3645	broad.mit.edu	37	1	156823895	156823895	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:156823895C>T	uc010pht.2	-	1	585	c.286G>A	c.(286-288)Gac>Aac	p.D96N	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Missense_Mutation_p.D96N	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	96					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)					GGGAAGAGGTCGCGCAGGCTC	0.637000														74			17		0	0	0.004007	0	0
FAM172A	83989	broad.mit.edu	37	5	93294641	93294641	+	Silent	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:93294641A>G	uc010jbd.3	-	5	615	c.408T>C	c.(406-408)ttT>ttC	p.F136F	FAM172A_uc011cuf.2_Silent_p.F90F|FAM172A_uc011cug.2_Intron|FAM172A_uc011cuh.2_Intron|FAM172A_uc011cui.2_Non-coding_Transcript|FAM172A_uc011cuj.2_Intron|FAM172A_uc003kkm.4_Silent_p.F136F	NM_032042	NP_001156889	Q8WUF8	F172A_HUMAN	Homo sapiens family with sequence similarity 172, member A (FAM172A), transcript variant 1, mRNA.	136						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TCATAAAGATAAAACTCTTTG	0.353000														26			13		0	0	0.002450	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168538	142168538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142168538G>A	uc011kry.1	-	1	351	c.185C>T	c.(184-186)cCc>cTc	p.P62L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|TRBV5-4_uc022anj.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		GATAAACTGGGGCCCCTGACC	0.507000														87			33		0	0	0.007835	0	0
DIP2C	22982	broad.mit.edu	37	10	395384	395384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:395384G>A	uc001ifp.3	-	24	3086	c.2996C>T	c.(2995-2997)gCg>gTg	p.A999V	DIP2C_uc009xhi.1_Missense_Mutation_p.A385V	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	999						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)		CAGCGAGTTCGCTATCGCACC	0.607000														42			23		0	0	0.005443	0	0
CHSY1	22856	broad.mit.edu	37	15	101718386	101718386	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:101718386G>A	uc021sxt.1	-	2	2092	c.1616C>T	c.(1615-1617)cCt>cTt	p.P539L	CHSY1_uc010usd.2_Missense_Mutation_p.P267L	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	539					chondroitin sulfate biosynthetic process	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)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCAGACAAAGGAATCAGTAT	0.443000														60			25		0	0	0.002780	0	0
PDE3A	5139	broad.mit.edu	37	12	20803400	20803400	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:20803400G>A	uc001reh.2	+	13	2831	c.2791G>A	c.(2791-2793)Gat>Aat	p.D931N	PDE3A_uc021qwa.1_Missense_Mutation_p.D609N	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	931	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)	TGTTGGAATAGATTGGACCAA	0.308000														41			18		0	0	0.006122	0	0
TRAPPC6A	79090	broad.mit.edu	37	19	45668431	45668431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:45668431C>T	uc002paw.3	-	1	125	c.106G>A	c.(106-108)Gtc>Atc	p.V36I	TRAPPC6A_uc002pav.3_Missense_Mutation_p.V50I			O75865	TPC6A_HUMAN	Homo sapiens trafficking protein particle complex 6A (TRAPPC6A), mRNA.	36					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)		CCCTCCAGGACCGACAGGCTC	0.701000														1			3		0	0	0.009096	0	0
TTC37	9652	broad.mit.edu	37	5	94820441	94820441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:94820441G>A	uc003klb.3	-	37	4337	c.4040C>T	c.(4039-4041)aCt>aTt	p.T1347I		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	1347							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TGTGCAGAGAGTTTCAGCTTC	0.368000														29			8		0	0	0.008291	0	0
A1CF	29974	broad.mit.edu	37	10	52580326	52580326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:52580326C>T	uc001jjj.3	-	7	1041	c.853G>A	c.(853-855)Gct>Act	p.A285T	A1CF_uc010qho.2_Missense_Mutation_p.A293T|A1CF_uc010qhn.2_Missense_Mutation_p.A293T|A1CF_uc009xov.3_Missense_Mutation_p.A285T|A1CF_uc001jji.3_Missense_Mutation_p.A285T|A1CF_uc001jjh.3_Missense_Mutation_p.A293T	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	285	RRM 3.				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						CCATTTAAAGCTTTCATAGCC	0.403000														30			7		0	0	0.004482	0	0
CLK2	1196	broad.mit.edu	37	1	155233150	155233150	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:155233150G>A	uc001fjy.3	-	12	1649	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	SCAMP3_uc001fjs.3_5'Flank|SCAMP3_uc001fjt.3_5'Flank|CLK2_uc001fjw.3_Silent_p.F452F|CLK2_uc001fjx.3_Silent_p.F225F|CLK2_uc009wqm.3_Silent_p.F453F	NM_003993	NP_003984	P49760	CLK2_HUMAN	Homo sapiens CDC-like kinase 2 (CLK2), mRNA.	453	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)			CAATCAGATCGAAGAGCTGGT	0.562000								Other conserved DNA damage response genes						33			72		0	0	0.003610	0	0
DPP10	57628	broad.mit.edu	37	2	116101467	116101467	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:116101467C>T	uc002tle.3	+	2	283	c.262C>T	c.(262-264)Cca>Tca	p.P88S	DPP10_uc002tla.2_Missense_Mutation_p.P84S|DPP10_uc021vnb.1_Non-coding_Transcript|DPP10_uc002tlb.2_Missense_Mutation_p.P34S|DPP10_uc002tlc.2_Missense_Mutation_p.P80S|DPP10_uc002tlf.2_Missense_Mutation_p.P77S	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	84					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						GCTTCACGATCCAGAGGCTCG	0.333000														32			14		0	0	0.002450	0	0
ABCC10	89845	broad.mit.edu	37	6	43403587	43403587	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:43403587C>T	uc003ouy.1	+	4	1922	c.1707C>T	c.(1705-1707)gaC>gaT	p.D569D	ABCC10_uc003ouz.1_Silent_p.D526D|ABCC10_uc010jyo.1_5'UTR	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	569						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			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)			TGTCCTTGGACCGGATCCAGC	0.562000														51			28		0	0	0.006320	0	0
NXF3	56000	broad.mit.edu	37	X	102334948	102334948	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:102334948G>A	uc004eju.3	-	11	1116	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L	NXF3_uc010noi.1_Silent_p.L199L	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	349	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TACTGCTGCAGGAATTGCAGG	0.483000														171			69		0	0	0.003610	0	0
PAICS	10606	broad.mit.edu	37	4	57318118	57318118	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:57318118C>T	uc010ihd.1	+	6	936	c.855C>T	c.(853-855)atC>atT	p.I285I	PAICS_uc003hbs.1_Silent_p.I284I|PAICS_uc011cac.1_Silent_p.I284I|PAICS_uc003hbt.1_Silent_p.I291I|PAICS_uc003hbu.1_Silent_p.I284I	NM_006452	NP_006443	P22234	PUR6_HUMAN	Homo sapiens phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase (PAICS), transcript variant 2, mRNA.	284	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)	GTGAAAAAATCAAGAAGGCCT	0.408000														16			4		0	0	0.000602	0	0
PAQR4	124222	broad.mit.edu	37	16	3021895	3021895	+	Silent	SNP	C	T	T	rs138017941	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:3021895C>T	uc002csj.4	+	2	1102	c.768C>T	c.(766-768)gcC>gcT	p.A256A	PAQR4_uc002csk.4_Silent_p.A217A|PAQR4_uc002csl.4_Silent_p.A182A|PAQR4_uc010uwm.2_Silent_p.A187A	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN	Homo sapiens progestin and adipoQ receptor family member IV (PAQR4), mRNA.	256						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						AGCTGCACGCCGGCGTCGTGC	0.672000														38			10		0	0	0.000978	0	0
MYO5B	4645	broad.mit.edu	37	18	47398567	47398567	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:47398567C>T	uc002leb.2	-	26	3861	c.3573G>A	c.(3571-3573)ccG>ccA	p.P1191P	MYO5B_uc002lea.2_Silent_p.P332P|Y_RNA_uc021uka.1_5'Flank	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1191					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.P1191P(2)|p.P1191Q(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)		GATCTGCATTCGGGTCCAAAT	0.507000														285			117		0	0	0.003610	0	0
ATXN1	6310	broad.mit.edu	37	6	16327060	16327060	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:16327060G>A	uc003nbt.3	-	7	2453	c.1482C>T	c.(1480-1482)gtC>gtT	p.V494V	ATXN1_uc010jpi.3_Silent_p.V494V|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	494	Self-association.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CAGTGCTGCCGACCGGGATGA	0.662000														104			40		0	0	0.003610	0	0
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:40367841T>G	uc002omp.4	-	28	13127	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4373	TIL 10.					extracellular region	protein binding	p.A4373A(4)		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)			TCGTAAGGGGTGCAGGGGACG	0.627000														51			5		0	0	0.004007	0	0
GALNS	2588	broad.mit.edu	37	16	88902210	88902210	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:88902210G>A	uc010cid.3	-	7	940	c.699C>T	c.(697-699)ttC>ttT	p.F233F	GALNS_uc002fly.4_Silent_p.F227F|GALNS_uc002flz.4_5'UTR			P34059	GALNS_HUMAN	Homo sapiens galactosamine (N-acetyl)-6-sulfate sulfatase (GALNS), mRNA.	227			D -> N (in MPS4A).			lysosome	N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity|metal ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	CCCAGTAGAGGAAAAAGGGGT	0.617000														51			24		0	0	0.004656	0	0
DPEP1	1800	broad.mit.edu	37	16	89702702	89702702	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:89702702C>T	uc010cin.3	+	3	471	c.268C>T	c.(268-270)Cag>Tag	p.Q90*	DPEP1_uc002fnr.4_Nonsense_Mutation_p.Q90*|DPEP1_uc002fns.4_Nonsense_Mutation_p.Q90*	NM_001128141	NP_004404	P16444	DPEP1_HUMAN	Homo sapiens dipeptidase 1 (renal) (DPEP1), transcript variant 2, mRNA.	90					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)	CTGCGACACCCAGAACAAAGA	0.652000														24			7		0	0	0.003080	0	0
PAX8	7849	broad.mit.edu	37	2	113993093	113993093	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:113993093G>A	uc010yxt.2	-	8	1131	c.965C>T	c.(964-966)tCc>tTc	p.S322F	PAX8_uc010yxu.2_Intron|PAX8_uc002tjm.3_Intron|PAX8_uc002tjn.3_Intron|LOC654433_uc002tjp.2_5'Flank|LOC654433_uc002tjq.4_5'Flank|LOC654433_uc010fks.3_5'Flank|LOC654433_uc010fkt.3_5'Flank|LOC654433_uc002tjr.4_5'Flank	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	322	Ser-rich.			S -> C (in Ref. 1; X69699).	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						AGATAAAGAGGAAGGGGTGGA	0.592000			T	PPARG	follicular thyroid		Thyroid dysgenesis							25			10		0	0	0.006214	0	0
OR6V1	346517	broad.mit.edu	37	7	142749510	142749510	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142749510C>T	uc011ksv.2	+	0	73	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L25Q(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GCAGGCCCTTCTGTATGGCCC	0.512000														196			71		0	0	0.003610	0	0
PTPRT	11122	broad.mit.edu	37	20	41419868	41419868	+	Silent	SNP	G	A	A	rs140340339		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:41419868G>A	uc002xkg.3	-	2	637	c.453C>T	c.(451-453)ctC>ctT	p.L151L	PTPRT_uc010ggj.3_Silent_p.L151L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	151	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	p.L151L(4)		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)				TGCTGATGGCGAGCTCTGCCT	0.488000														89			32		0	0	0.004289	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43650774	43650774	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:43650774C>T	uc001jan.3	+	1	512	c.177C>T	c.(175-177)gcC>gcT	p.A59A	CSGALNACT2_uc001jam.1_Silent_p.A59A	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.	59					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						ATTATCAAGCCCTCCTACAGG	0.413000														26			14		0	0	0.003163	0	0
RABEPK	10244	broad.mit.edu	37	9	127994991	127994992	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:127994991_127994992GG>AA	uc004bpi.3	+	7	962_963	c.793_794GG>AA	c.(793-795)gga>AAa	p.G265K	RABEPK_uc004bpj.3_Missense_Mutation_p.G214K|RABEPK_uc004bpk.3_Missense_Mutation_p.G265K	NM_001174152	NP_005824	Q7Z6M1	RABEK_HUMAN	Homo sapiens Rab9 effector protein with kelch motifs (RABEPK), transcript variant 2, mRNA.	265					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						GACTCCTGCAGGAGCACTGGAC	0.510000														30			11		0	0	0.004672	0	0
NDRG1	10397	broad.mit.edu	37	8	134260982	134260982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:134260982G>A	uc003yuh.2	-	10	1317	c.731C>T	c.(730-732)cCg>cTg	p.P244L	NDRG1_uc003yuf.1_Missense_Mutation_p.P55L|NDRG1_uc003yug.2_Missense_Mutation_p.P244L|NDRG1_uc010mee.2_Missense_Mutation_p.P163L|NDRG1_uc010mef.2_Missense_Mutation_p.P178L|NDRG1_uc011ljh.1_Missense_Mutation_p.P72L|NDRG1_uc011lji.1_Intron	NM_001135242	NP_006087	Q92597	NDRG1_HUMAN	Homo sapiens N-myc downstream regulated 1 (NDRG1), transcript variant 1, mRNA.	244					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GTGGGTTCCCGGCATTGGTCG	0.592000			T	ERG	prostate									61			34		0	0	0.004289	0	0
SPEF2	79925	broad.mit.edu	37	5	35763670	35763670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:35763670C>T	uc003jjo.3	+	25	3778	c.3667C>T	c.(3667-3669)Ccc>Tcc	p.P1223S	SPEF2_uc003jjp.1_Missense_Mutation_p.P709S	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1223					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)			AACAGTTACACCCAAACCAAA	0.373000														41			22		0	0	0.002780	0	0
OPCML	4978	broad.mit.edu	37	11	132399032	132399032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:132399032C>T	uc010sck.2	-	2	499	c.449G>A	c.(448-450)gGa>gAa	p.G150E	OPCML_uc001qgu.3_Missense_Mutation_p.G143E|OPCML_uc001qgs.3_Missense_Mutation_p.G150E|OPCML_uc001qgt.3_Missense_Mutation_p.G150E|OPCML_uc010scl.2_Missense_Mutation_p.G109E	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	150	Ig-like C2-type 2.				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)		CACACTGCTTCCCTCATTCAC	0.468000														17			14		0	0	0.001855	0	0
SALL1	6299	broad.mit.edu	37	16	51173406	51173406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:51173406C>T	uc021tif.1	-	1	2758	c.2436G>A	c.(2434-2436)atG>atA	p.M812I	SALL1_uc021tid.1_Missense_Mutation_p.M812I|SALL1_uc021tie.1_Missense_Mutation_p.M909I|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	909					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)			TTTGGCTTTCCATGTCACCAC	0.577000														36			22		0	0	0.010504	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110510897	110510897	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:110510897G>A	uc003yne.3	+	66	10829	c.10725G>A	c.(10723-10725)ggG>ggA	p.G3575G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3575					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)			GGAGAAGTGGGATTTGTTGGC	0.393000										HNSCC(38;0.096)				20			10		0	0	0.001368	0	0
SYNE1	23345	broad.mit.edu	37	6	152831444	152831444	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:152831444C>T	uc021zhb.1	-	5	688	c.465G>A	c.(463-465)gtG>gtA	p.V155V	SYNE1_uc003qot.4_Silent_p.V162V|SYNE1_uc003qou.4_Silent_p.V155V|SYNE1_uc010kjb.1_Silent_p.V155V|SYNE1_uc003qpa.1_Silent_p.V155V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	155	Actin-binding.				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)		CTATGCTGTCCACGGAGGATG	0.478000										HNSCC(10;0.0054)				34			21		0	0	0.008871	0	0
AL117485	0	broad.mit.edu	37	22	18846165	18846165	+	RNA	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:18846165G>A	uc002zoe.3	+	4		c.2527G>A			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		TGCGGGAGGAGGGAATGTTCT	0.617000														18			3		0	0	0.001984	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734932	12734932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:12734932C>T	uc004cuz.2	+	14	2860	c.2354C>T	c.(2353-2355)tCc>tTc	p.S785F	FRMPD4_uc011mij.2_Missense_Mutation_p.S777F	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	785					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						GACCTCACATCCCTGCCCCCT	0.572000														122			47		0	0	0.003610	0	0
SOX11	6664	broad.mit.edu	37	2	5833756	5833756	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:5833756G>A	uc002qyj.3	+	0	958	c.903G>A	c.(901-903)gcG>gcA	p.A301A		NM_003108	NP_003099	P35716	SOX11_HUMAN	Homo sapiens SRY (sex determining region Y)-box 11 (SOX11), mRNA.	301					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)		GGGCCGGCGCGACCTCGGGCG	0.726000														6			3		0	0	0.004672	0	0
LMF1	64788	broad.mit.edu	37	16	1004443	1004443	+	Silent	SNP	G	A	A	rs139825245	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:1004443G>A	uc021tae.1	-	1	421	c.417C>T	c.(415-417)ttC>ttT	p.F139F	LMF1_uc010uuu.2_5'UTR|LMF1_uc021tad.1_5'UTR|LMF1_uc010bri.2_Intron|LMF1_uc002ckk.2_5'UTR|LMF1_uc010uuv.1_Non-coding_Transcript	NM_022773	NP_073610	Q96S06	LMF1_HUMAN	Homo sapiens lipase maturation factor 1 (LMF1), transcript variant 1, mRNA.	139						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				TGATCAGTACGAAAGACGAGA	0.557000														20			11		0	0	0.008291	0	0
CSMD1	64478	broad.mit.edu	37	8	3443759	3443759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:3443759G>A	uc022aqr.1	-	8	1511	c.1121C>T	c.(1120-1122)tCa>tTa	p.S374L		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	375	Sushi 2.					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)		GTCCTCACATGAAAACTGTAC	0.408000														15			7		0	0	0.003080	0	0
SLC9A6	10479	broad.mit.edu	37	X	135080653	135080653	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:135080653C>T	uc004ezk.3	+	3	692	c.616C>T	c.(616-618)Cga>Tga	p.R206*	SLC9A6_uc011mvx.2_Nonsense_Mutation_p.R154*|SLC9A6_uc004ezj.3_Nonsense_Mutation_p.R174*	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA.	174					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)					ACATTTTTTTCGAAATCTTGG	0.313000														40			19		0	0	0.007413	0	0
HNF1A	6927	broad.mit.edu	37	12	121416631	121416631	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:121416631G>A	uc001tzg.3	+	0	83	c.60G>A	c.(58-60)ggG>ggA	p.G20G	HNF1A_uc021rex.1_5'UTR|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Silent_p.G20G|HNF1A_uc001tze.2_Silent_p.G20G|HNF1A_uc001tzf.3_Silent_p.G20G|HNF1A_uc010szn.2_Silent_p.G20G|HNF1A_uc021rfa.1_Silent_p.G20G|HNF1A_uc021rfb.1_5'UTR|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	20	Dimerization.		G -> R (in MODY3; abolishes interaction with PCBD1 and DNA).		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	p.S19*(1)|p.L21fs*1(1)|p.?(1)		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)					TCGAGTCAGGGCTGAGCAAAG	0.692000									Hepatic Adenoma, Familial Clustering of					283			117		0	0	0.003610	0	0
AOX1	316	broad.mit.edu	37	2	201503015	201503015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:201503015G>A	uc002uvx.3	+	22	2659	c.2558G>A	c.(2557-2559)gGa>gAa	p.G853E	AOX1_uc010zhf.2_Missense_Mutation_p.G409E|AOX1_uc010fsu.3_Missense_Mutation_p.G219E	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	853					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.G853*(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)	CCTTACCTTGGAAAGTACAAA	0.458000														50			26		0	0	0.006320	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479463	156479463	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:156479463C>T	uc010jij.1	-	3	767	c.582G>A	c.(580-582)acG>acA	p.T194T	HAVCR1_uc011ddl.1_Silent_p.T25T|HAVCR1_uc003lwi.2_Silent_p.T194T|HAVCR1_uc021ygj.1_Silent_p.T194T|HAVCR1_uc021ygk.1_Silent_p.T25T|HAVCR1_uc011ddm.2_Silent_p.T194T	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	189	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity	p.T194T(2)		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)			TTGGAATGCTCGTTGTCGTTG	0.463000														641			199		0	0	0.003610	0	0
TNFSF15	9966	broad.mit.edu	37	9	117553070	117553070	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:117553070G>A	uc004bjh.3	-	3	534	c.418C>T	c.(418-420)Ctg>Ttg	p.L140L	TNFSF15_uc004bjg.3_Silent_p.L81L	NM_005118	NP_005109	O95150	TNF15_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.	140					activation of NF-kappaB-inducing kinase activity|activation of caspase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	p.L140R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TCTGGGATCAGCAGGAATTTG	0.488000														43			23		0	0	0.001882	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045758	142045758	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142045758C>T	uc003vxp.4	+	1	395	c.286C>T	c.(286-288)Cac>Tac	p.H96Y	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		CTTATTCCTTCACCTACACAC	0.498000														201			40		0	0	0.003610	0	0
RHBDF1	64285	broad.mit.edu	37	16	112888	112888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:112888G>A	uc002cfl.4	-	5	823	c.680C>T	c.(679-681)tCc>tTc	p.S227F	RHBDF1_uc010uty.2_Missense_Mutation_p.S250F|RHBDF1_uc010utz.2_Missense_Mutation_p.S227F|RHBDF1_uc010bqo.1_Non-coding_Transcript	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	Homo sapiens rhomboid 5 homolog 1 (Drosophila) (RHBDF1), mRNA.	227					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)				ATCCCTAACGGAGCGGCCCTG	0.642000														45			22		0	0	0.005443	0	0
OR5H2	79310	broad.mit.edu	37	3	98002453	98002453	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:98002453A>T	uc003dsj.1	+	0	722	c.722A>T	c.(721-723)aAa>aTa	p.K241I		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GGCGTAAGGAAAGCCTTTTCC	0.413000														37			44		0	0	0.009718	0	0
KIAA0368	23392	broad.mit.edu	37	9	114132741	114132741	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:114132741T>G	uc004bfe.1	-	45	5482	c.5482A>C	c.(5482-5484)Aac>Cac	p.N1828H		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						ATGACAATGTTAGAGAACTCC	0.373000														14			6		0	0	0.001984	0	0
DNAAF3	352909	broad.mit.edu	37	19	55678020	55678020	+	Splice_Site	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:55678020G>A	uc002qjl.1	-	1	1	c.-1_splice	c.e1-1		DNAAF3_uc002qji.1_5'Flank|DNAAF3_uc002qjj.1_Splice_Site|DNAAF3_uc002qjk.1_Splice_Site	NM_178837	NP_849159	Q8N9W5	CS051_HUMAN	Homo sapiens chromosome 19 open reading frame 51 (C19orf51), mRNA.																		GAAGCATGTGGGATGGGACCA	0.602000														57			20		0	0	0.001882	0	0
CCNB3	85417	broad.mit.edu	37	X	50094243	50094243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:50094243C>T	uc004dox.4	+	11	4262	c.3964C>T	c.(3964-3966)Ccc>Tcc	p.P1322S	CCNB3_uc004doy.3_Missense_Mutation_p.P1322S|CCNB3_uc004doz.3_Missense_Mutation_p.P218S|CCNB3_uc010njq.3_Missense_Mutation_p.P214S|CCNB3_uc004dpa.3_Missense_Mutation_p.P161S	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	1322					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CTTCCAGGTTCCCTTCCTGGA	0.458000														93			36		0	0	0.004289	0	0
PSIP1	11168	broad.mit.edu	37	9	15472667	15472667	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:15472667G>A	uc003zlv.4	-	9	1270	c.940C>T	c.(940-942)Cga>Tga	p.R314*	PSIP1_uc003zlw.4_Nonsense_Mutation_p.R314*|PSIP1_uc003zlz.4_Nonsense_Mutation_p.R314*|PSIP1_uc003zma.4_Nonsense_Mutation_p.R305*|PSIP1_uc003zly.3_Nonsense_Mutation_p.R314*	NM_033222	NP_150091	O75475	PSIP1_HUMAN	Homo sapiens PC4 and SFRS1 interacting protein 1 (PSIP1), transcript variant 2, mRNA.	314					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	DNA secondary structure binding|RNA polymerase II transcription coactivator activity|activating transcription factor binding|chromatin binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TTGCGTTTTCGATCTGCTGCT	0.363000														24			18		0	0	0.006122	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881890	228881890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:228881890G>A	uc002vpq.2	-	6	3727	c.3680C>T	c.(3679-3681)tCt>tTt	p.S1227F	SPHKAP_uc002vpp.2_Missense_Mutation_p.S1227F|SPHKAP_uc010zlx.1_Missense_Mutation_p.S1227F	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1227						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)		GGATCGCAGAGAAGGAGACAG	0.557000														62			38		0	0	0.004878	0	0
MYO9A	4649	broad.mit.edu	37	15	72195386	72195386	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:72195386G>A	uc002atl.4	-	21	3369	c.2896C>T	c.(2896-2898)Cat>Tat	p.H966Y	MYO9A_uc010biq.3_Missense_Mutation_p.H586Y|MYO9A_uc002atn.1_Missense_Mutation_p.H947Y	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	966	Myosin head-like 2.				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						AGAAGTACATGGAAGTGGCTC	0.269000														30			12		0	0	0.001368	0	0
DMRT3	58524	broad.mit.edu	37	9	990125	990125	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:990125C>T	uc003zgw.1	+	1	577	c.539C>T	c.(538-540)tCc>tTc	p.S180F		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	180					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)		CAGAGGAGTTCCCCAGATGTG	0.522000														28			26		0	0	0.005443	0	0
LRCH3	84859	broad.mit.edu	37	3	197557648	197557648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:197557648G>A	uc011bul.1	+	6	900	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	LRCH3_uc003fyj.1_Missense_Mutation_p.E299K|LRCH3_uc011bum.1_Missense_Mutation_p.E299K|LRCH3_uc011bun.1_Missense_Mutation_p.E173K|LRCH3_uc003fyk.2_5'UTR	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 3 (LRCH3), mRNA.	299						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)		CAGCCATGAAGAACTGTACTC	0.353000														80			25		0	0	0.005443	0	0
KRT82	3888	broad.mit.edu	37	12	52790747	52790747	+	Missense_Mutation	SNP	G	A	A	rs139209735	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:52790747G>A	uc001sai.1	-	5	1103	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	Homo sapiens keratin 82 (KRT82), mRNA.	330	Coil 2.|Rod.					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)		TTACGGTTGCGGAGGTTGTCA	0.557000														30			20		0	0	0.007413	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45686323	45686323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:45686323G>A	uc001wwf.3	-	12	3361	c.2902C>T	c.(2902-2904)Ctt>Ttt	p.L968F		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA.	968					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						TTCCTTTTAAGAGTTCCCACT	0.368000														76			32		0	0	0.002445	0	0
SLC22A20	440044	broad.mit.edu	37	11	64981824	64981824	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:64981824C>G	uc021qlg.1	+	1	442	c.409C>G	c.(409-411)Ctc>Gtc	p.L137V	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.	135					ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						GGCCCGCACTCTCCGAGACCT	0.677000														15			9		0	0	0.000978	0	0
ASB5	140458	broad.mit.edu	37	4	177142701	177142701	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:177142701G>A	uc003iuq.2	-	3	549	c.435C>T	c.(433-435)tcC>tcT	p.S145S	ASB5_uc003iup.2_Silent_p.S92S	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	145					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)		GACTGCCTTGGGAGCATGCGT	0.478000														43			16		0	0	0.003163	0	0
PPARD	5467	broad.mit.edu	37	6	35392314	35392314	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:35392314T>C	uc003okn.3	+	7	1241	c.836T>C	c.(835-837)gTt>gCt	p.V279A	PPARD_uc003okl.3_Missense_Mutation_p.V279A|PPARD_uc011dtb.2_Missense_Mutation_p.V240A|PPARD_uc011dtc.2_Missense_Mutation_p.V181A|PPARD_uc003okm.3_Missense_Mutation_p.V279A	NM_001171818	NP_006229	Q03181	PPARD_HUMAN	Homo sapiens peroxisome proliferator-activated receptor delta (PPARD), transcript variant 3, mRNA.	279	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			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)	AACGACCAGGTTACCCTTCTC	0.592000														37			12		0	0	0.001368	0	0
UNC5D	137970	broad.mit.edu	37	8	35425615	35425615	+	Splice_Site	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:35425615G>A	uc003xjr.2	+	3	651	c.323_splice	c.e3-1	p.G108_splice	UNC5D_uc003xjs.2_Splice_Site_p.G103_splice	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	108	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)		CCCACCATCAGGTTTGAAGGT	0.453000														154			60		0	0	0.003610	0	0
ASXL2	55252	broad.mit.edu	37	2	25973192	25973193	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:25973192_25973193GG>AA	uc002rgs.2	-	10	1453_1454	c.1232_1233CC>TT	c.(1231-1233)tcc>tTT	p.S411F	ASXL2_uc002rgt.1_Missense_Mutation_p.S151F	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	411					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)					ACACAGGCATGGATTTTGGTTG	0.446000														180			69		0	0	0.004672	0	0
LRBA	987	broad.mit.edu	37	4	151604791	151604791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:151604791G>A	uc010ipj.3	-	36	6077	c.5833C>T	c.(5833-5835)Cgt>Tgt	p.R1945C	LRBA_uc003ilt.4_Missense_Mutation_p.R604C|LRBA_uc003ilu.4_Missense_Mutation_p.R1945C	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	1945						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)					ACGTGGTCACGATATTTTGCT	0.408000														48			12		0	0	0.000978	0	0
KRT33B	3884	broad.mit.edu	37	17	39520160	39520160	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:39520160G>A	uc002hwl.3	-	6	1188	c.1143C>T	c.(1141-1143)ccC>ccT	p.P381P		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	381	Tail.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				AGGATCCAATGGGCTTTTCAC	0.542000														54			26		0	0	0.006320	0	0
CDH7	1005	broad.mit.edu	37	18	63547909	63547909	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:63547909G>A	uc002lkb.3	+	11	2563	c.2137G>A	c.(2137-2139)Gaa>Aaa	p.E713K	CDH7_uc002ljz.3_Missense_Mutation_p.E713K	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	713					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)				ATTTATTTGGGAAAGATTAAA	0.438000														56			23		0	0	0.002780	0	0
DMBT1	1755	broad.mit.edu	37	10	124358464	124358464	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:124358464G>A	uc001lgk.1	+	25	3237	c.3131G>A	c.(3130-3132)gGa>gAa	p.G1044E	DMBT1_uc001lgl.1_Missense_Mutation_p.G1034E|DMBT1_uc001lgm.1_Missense_Mutation_p.G545E|DMBT1_uc021qaf.1_Missense_Mutation_p.G1044E|DMBT1_uc021qag.1_Missense_Mutation_p.G1034E|DMBT1_uc021qah.1_Missense_Mutation_p.G545E|DMBT1_uc009xzz.1_Missense_Mutation_p.G1044E|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Missense_Mutation_p.G5E	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1044	SRCR 8.				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)				TCAGCCCCAGGAAATGCCCGG	0.612000														104			152		0	0	0.003610	0	0
SLC9A5	6553	broad.mit.edu	37	16	67304790	67304790	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:67304790G>A	uc002esm.3	+	15	2431	c.2368G>A	c.(2368-2370)Ggt>Agt	p.G790S	SLC9A5_uc010cee.3_Missense_Mutation_p.G495S|SLC9A5_uc010vji.2_Missense_Mutation_p.G294S	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	790					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)		CATGCAGACGGGTTGGAACCA	0.607000														57			23		0	0	0.002299	0	0
MUC16	94025	broad.mit.edu	37	19	8995693	8995693	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:8995693C>T	uc002mkp.3	-	62	41499	c.41295G>A	c.(41293-41295)ggG>ggA	p.G13765G	MUC16_uc010dwi.3_Intron|MUC16_uc010dwj.3_Silent_p.G582G|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13767				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						CTGTGGGGGTCCCAGGAGCTG	0.488000														16			6		0	0	0.001168	0	0
C5orf42	65250	broad.mit.edu	37	5	37183116	37183116	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:37183116G>A	uc011cpa.1	-	25	5398	c.5167C>T	c.(5167-5169)Cag>Tag	p.Q1723*	C5orf42_uc011coy.1_Nonsense_Mutation_p.Q224*|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Nonsense_Mutation_p.Q798*|C5orf42_uc011cpb.1_Nonsense_Mutation_p.Q604*	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1723										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)			TCATTGCACTGAATAGCTTTG	0.368000														53			11		0	0	0.008291	0	0
ZNF385B	151126	broad.mit.edu	37	2	180634320	180634320	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:180634320C>T	uc002unn.4	-	2	767	c.163G>A	c.(163-165)Ggc>Agc	p.G55S		NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	55						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)			TGGGATTTGCCGTTGGAATGC	0.567000														50			22		0	0	0.002299	0	0
ZNF594	84622	broad.mit.edu	37	17	5085533	5085533	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:5085533G>A	uc010cla.1	-	1	2175	c.2019C>T	c.(2017-2019)atC>atT	p.I673I	ZNF594_uc021tol.1_Silent_p.I673I	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	Homo sapiens zinc finger protein 594 (ZNF594), mRNA.	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTCCAGTATGGATTTTCTGGT	0.463000														57			26		0	0	0.003954	0	0
EXOC6B	23233	broad.mit.edu	37	2	72723613	72723613	+	Silent	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:72723613T>C	uc010fep.3	-	13	1551	c.1413A>G	c.(1411-1413)caA>caG	p.Q471Q	EXOC6B_uc002sij.2_Silent_p.Q471Q	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	Homo sapiens exocyst complex component 6B (EXOC6B), mRNA.	471					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						GAAATGGGAATTGTCCTACCA	0.343000														12			3		0	0	0.004672	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228854	57228854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:57228854G>A	uc010lyk.1	-	1	691	c.53C>T	c.(52-54)tCa>tTa	p.S18L	SDR16C5_uc003xsy.1_Missense_Mutation_p.S18L|SDR16C5_uc010lyl.1_Missense_Mutation_p.S18L	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	18					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						ACTAAACAGTGATTTTCCTAA	0.418000														35			8		0	0	0.004482	0	0
LMX1B	4010	broad.mit.edu	37	9	129453307	129453307	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:129453307G>A	uc011maa.2	+	2	526	c.519G>A	c.(517-519)aaG>aaA	p.K173K	LMX1B_uc004bqi.3_Silent_p.K173K|LMX1B_uc004bqj.3_Silent_p.K173K	NM_001174146	NP_001167617	O60663	LMX1B_HUMAN	Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.	150					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						AGAAGGAGAAGGACCTGCTCA	0.657000									Nail-Patella Syndrome					14			7		0	0	0.001984	0	0
EBI3	10148	broad.mit.edu	37	19	4234773	4234773	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:4234773G>A	uc002lzu.3	+	3	497	c.489G>A	c.(487-489)ctG>ctA	p.L163L		NM_005755	NP_005746	Q14213	IL27B_HUMAN	Homo sapiens Epstein-Barr virus induced 3 (EBI3), mRNA.	163	Fibronectin type-III 2.				T-helper 1 type immune response|humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTTCTCACTGAAGTACTGGA	0.642000														137			53		0	0	0.003610	0	0
CACNA1E	777	broad.mit.edu	37	1	181764100	181764100	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:181764100G>A	uc009wxt.3	+	45	6323	c.6128G>A	c.(6127-6129)aGt>aAt	p.S2043N	CACNA1E_uc001gow.3_Missense_Mutation_p.S2000N|CACNA1E_uc009wxs.3_Missense_Mutation_p.S1981N	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2043					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R2042G(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						GAGCGAAGCAGTGAAAATACC	0.527000														62			13		0	0	0.001368	0	0
MSL3	10943	broad.mit.edu	37	X	11790756	11790756	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:11790756C>T	uc004cuw.3	+	11	1503	c.1398C>T	c.(1396-1398)atC>atT	p.I466I	MSL3_uc011mig.2_Silent_p.I317I|MSL3_uc011mih.2_Silent_p.I454I|MSL3_uc004cuy.3_Silent_p.I300I	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN	Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.	466					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TTCCAGAAATCCTTGGAAAGA	0.363000														39			10		0	0	0.001368	0	0
FBP1	2203	broad.mit.edu	37	9	97369204	97369204	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:97369204C>T	uc004auw.4	-	4	929	c.598G>A	c.(598-600)Gat>Aat	p.D200N	FBP1_uc010mrl.3_Missense_Mutation_p.D200N	NM_000507	NP_001121100	P09467	F16P1_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	200					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	ATCTTCACATCCTTGTCCACC	0.507000														65			26		0	0	0.003954	0	0
LY6G6F	259215	broad.mit.edu	37	6	31677886	31677886	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:31677886G>A	uc003nwb.1	+	3	730	c.730G>A	c.(730-732)Ggc>Agc	p.G244S	ABHD16A_uc011dnz.2_Intron|LY6G6F_uc003nwa.1_Missense_Mutation_p.G244S	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA.	244						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						GCTCACAATGGGCCAGGGAGT	0.622000														309			153		0	0	0.003610	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567061	45567061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:45567061C>T	uc010dnv.3	-	2	920	c.484G>A	c.(484-486)Gag>Aag	p.E162K	ZBTB7C_uc002ldb.3_Missense_Mutation_p.E140K|ZBTB7C_uc010dnu.3_Missense_Mutation_p.E149K|ZBTB7C_uc010dnw.3_Missense_Mutation_p.E140K|ZBTB7C_uc010dnx.1_Missense_Mutation_p.E140K|ZBTB7C_uc010dny.1_Missense_Mutation_p.E140K|ZBTB7C_uc010dnz.1_Missense_Mutation_p.E162K|ZBTB7C_uc010doi.1_Missense_Mutation_p.E140K|ZBTB7C_uc010doj.1_Missense_Mutation_p.E149K|ZBTB7C_uc010dok.1_Missense_Mutation_p.E189K|ZBTB7C_uc010dol.1_Missense_Mutation_p.E149K|ZBTB7C_uc010doa.1_Missense_Mutation_p.E162K|ZBTB7C_uc010dob.1_Missense_Mutation_p.E140K|ZBTB7C_uc010doc.1_Missense_Mutation_p.E149K|ZBTB7C_uc010dod.1_Missense_Mutation_p.E162K|ZBTB7C_uc010doe.1_Missense_Mutation_p.E140K|ZBTB7C_uc010dof.1_Missense_Mutation_p.E140K|ZBTB7C_uc010dog.1_Missense_Mutation_p.E140K|ZBTB7C_uc010doh.1_Missense_Mutation_p.E149K|ZBTB7C_uc010dom.1_Missense_Mutation_p.E149K|ZBTB7C_uc010don.1_Missense_Mutation_p.E148K|ZBTB7C_uc010dop.1_Missense_Mutation_p.E140K|ZBTB7C_uc010doq.1_Missense_Mutation_p.E149K|ZBTB7C_uc010dor.1_Missense_Mutation_p.E162K|ZBTB7C_uc010dos.1_Missense_Mutation_p.E140K|ZBTB7C_uc010dot.1_Missense_Mutation_p.E140K|ZBTB7C_uc010doo.1_Missense_Mutation_p.E140K|ZBTB7C_uc010dou.1_Missense_Mutation_p.E149K	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	140	Asp-rich.|Glu-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						tcatcgtcctccttgtcatcc	0.577000														22			12		0	0	0.001368	0	0
RHBDD3	25807	broad.mit.edu	37	22	29656592	29656592	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:29656592G>A	uc003aeq.1	-	5	1078	c.706C>T	c.(706-708)Cct>Tct	p.P236S		NM_012265	NP_036397	Q9Y3P4	RHBD3_HUMAN	Homo sapiens rhomboid domain containing 3 (RHBDD3), mRNA.	236						integral to membrane	serine-type endopeptidase activity			lung(1)|ovary(1)	2						GGCGGTCCAGGGATGGGAGGC	0.672000														12			7		0	0	0.003080	0	0
SYK	6850	broad.mit.edu	37	9	93640054	93640054	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:93640054G>A	uc004aqz.3	+	9	1588	c.1383G>A	c.(1381-1383)caG>caA	p.Q461Q	SYK_uc004ara.3_Silent_p.Q438Q|SYK_uc004arb.3_Silent_p.Q438Q|SYK_uc004arc.3_Silent_p.Q461Q|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.	461	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						AGTATTTGCAGCAGAACAGGT	0.557000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									32			12		0	0	0.001368	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283839	33283840	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:33283839_33283840GG>AA	uc003oeb.3	-	1	1006_1007	c.854_855CC>TT	c.(853-855)acc>aTT	p.T285I	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.T285I|ZBTB22_uc021ywm.1_Missense_Mutation_p.T285I	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	285					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						GGGGTGTGTAGGTGGGTCTCCG	0.609000														20			53		0	0	0.004672	0	0
KIAA0196	9897	broad.mit.edu	37	8	126091068	126091068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:126091068G>A	uc003yrt.3	-	5	952	c.623C>T	c.(622-624)cCc>cTc	p.P208L	KIAA0196_uc011lir.2_Missense_Mutation_p.P60L	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	208					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)			ATAGCTCTCGGGATAGTTGGA	0.428000														30			13		0	0	0.001368	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003737	34003737	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:34003737G>A	uc002yqh.2	-	31	4407	c.4407C>T	c.(4405-4407)ttC>ttT	p.F1469F	SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Silent_p.F1383F|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.4_Silent_p.F55F	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	1430	Pro-rich.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTTCTTTGGAGAACCATGAAG	0.468000														37			19		0	0	0.006122	0	0
GYPA	2993	broad.mit.edu	37	4	145039905	145039905	+	Splice_Site	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:145039905C>T	uc003ijo.4	-	4	349	c.233_splice	c.e4-1	p.G78_splice	GYPA_uc003ijn.2_Splice_Site_p.G78_splice|GYPA_uc011cia.2_Splice_Site|GYPA_uc011cib.2_Splice_Site_p.G45_splice|GYPA_uc003ijp.4_Splice_Site_p.G46_splice|GYPA_uc010ioq.3_Intron|GYPA_uc010ior.3_Splice_Site_p.G13_splice|GYPA_uc010ios.1_Intron	NM_002099	NP_002090	P02724	GLPA_HUMAN	Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.	78			G -> R (in ERIK antigen; dbSNP:rs1800582).		interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					TACCCTTTCTCCTATAAAGCA	0.318000														47			18		0	0	0.001882	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433112	140433112	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:140433112C>T	uc003lik.1	+	0	2134	c.2057C>T	c.(2056-2058)cCa>cTa	p.P686L		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	686					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)			AAGGTAAATCCATCCACTAAA	0.408000														98			33		0	0	0.002836	0	0
HHIPL2	79802	broad.mit.edu	37	1	222713617	222713617	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:222713617G>A	uc001hnh.1	-	3	1243	c.1185C>T	c.(1183-1185)taC>taT	p.Y395Y		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	395					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)		AGGGGACTCGGTACCGCTTGC	0.537000														283			457		0	0	0.003610	0	0
ADH6	130	broad.mit.edu	37	4	100137326	100137326	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:100137326G>A	uc003huo.2	-	1	206	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_5'UTR|ADH6_uc003hup.4_Missense_Mutation_p.R38C|ADH6_uc010ile.3_Missense_Mutation_p.R38C	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	38					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)	ACCTTTATGCGAACTTCCTTT	0.393000														28			16		0	0	0.004007	0	0
MAP3K3	4215	broad.mit.edu	37	17	61744305	61744305	+	Silent	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:61744305T>C	uc002jbg.3	+	5	706	c.387T>C	c.(385-387)agT>agC	p.S129S	MAP3K3_uc002jbe.3_Silent_p.S160S|MAP3K3_uc002jbf.3_Silent_p.S160S|MAP3K3_uc002jbh.3_Silent_p.S160S|MAP3K3_uc010wpo.2_Silent_p.S44S|MAP3K3_uc010wpp.2_Silent_p.S129S	NM_002401	NP_002392	Q99759	M3K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 2, mRNA.	129					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						TACAGAACAGTTCCTCTCCCC	0.527000														55			16		0	0	0.008871	0	0
TRIM9	114088	broad.mit.edu	37	14	51467457	51467457	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:51467457C>T	uc001wyx.4	-	5	2173	c.1408G>A	c.(1408-1410)Gtg>Atg	p.V470M	TRIM9_uc001wyy.2_Missense_Mutation_p.V466M|TRIM9_uc001wyz.4_Missense_Mutation_p.V470M	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	470	Fibronectin type-III.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TCGGCGGGCACCGTGGACAGA	0.542000														39			13		0	0	0.003163	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209203253	209203253	+	Missense_Mutation	SNP	C	T	T	rs150593024	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:209203253C>T	uc002vcz.3	+	28	4791	c.4633C>T	c.(4633-4635)Cca>Tca	p.P1545S		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	1545					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGATGCATCTCCACGGAATAT	0.333000														19			6		0	0	0.001984	0	0
KCNN3	3782	broad.mit.edu	37	1	154841945	154841945	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:154841945C>T	uc021pah.1	-	0	810	c.496G>A	c.(496-498)Gac>Aac	p.D166N	KCNN3_uc001ffp.3_Missense_Mutation_p.D166N|KCNN3_uc009wox.1_Missense_Mutation_p.D166N	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.	171						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)			GGGTTGCTGTCCCGCCGGTGC	0.647000														108			10		0	0	0.006214	0	0
NPC1L1	29881	broad.mit.edu	37	7	44561318	44561318	+	Silent	SNP	C	T	T	rs143499989	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:44561318C>T	uc003tlb.3	-	11	3002	c.2946G>A	c.(2944-2946)tcG>tcA	p.S982S	NPC1L1_uc011kbw.2_Silent_p.S936S|NPC1L1_uc003tlc.3_Silent_p.S982S|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(1)		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)	CACTGACGGTCGAGGGGCAGA	0.587000														57			17		0	0	0.006122	0	0
BST1	683	broad.mit.edu	37	4	15717353	15717353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:15717353C>T	uc003goh.4	+	5	830	c.635C>T	c.(634-636)cCa>cTa	p.P212L		NM_004334	NP_004325	Q10588	BST1_HUMAN	Homo sapiens bone marrow stromal cell antigen 1 (BST1), mRNA.	212					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	NAD+ nucleosidase activity|binding			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						TATGAAATTCCAAACCTCCAG	0.333000														26			11		0	0	0.008291	0	0
COL6A3	1293	broad.mit.edu	37	2	238285478	238285478	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:238285478C>T	uc002vwl.2	-	6	3292	c.3007G>A	c.(3007-3009)Gga>Aga	p.G1003R	COL6A3_uc002vwo.2_Missense_Mutation_p.G797R|COL6A3_uc010znj.1_Missense_Mutation_p.G396R|COL6A3_uc002vwq.3_Missense_Mutation_p.G797R|COL6A3_uc002vwr.3_Missense_Mutation_p.G596R|COL6A3_uc010znk.1_Missense_Mutation_p.G803R	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1003	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)		TGAAGATCTCCAATCTTGGGA	0.498000														152			52		0	0	0.003610	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515463	140515463	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:140515463G>A	uc003liq.3	+	0	664	c.447G>A	c.(445-447)ggG>ggA	p.G149G		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	149	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)			CCCAGCCAGGGACTGTGTTTC	0.448000														60			35		0	0	0.004289	0	0
OR2M5	127059	broad.mit.edu	37	1	248308623	248308623	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:248308623C>T	uc010pze.2	+	0	174	c.174C>T	c.(172-174)ccC>ccT	p.P58P		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	58					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)			TCCACACCCCCATGTACTTCC	0.522000														209			179		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179597750	179597750	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179597750G>A	uc021vsy.1	-	51	12646	c.12421C>T	c.(12421-12423)Ccc>Tcc	p.P4141S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P802S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5068							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)			ACCCTCATGGGGAGGGAGCCT	0.473000														26			9		0	0	0.000978	0	0
RTN1	6252	broad.mit.edu	37	14	60212694	60212694	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:60212694G>A	uc001xen.1	-	1	956	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	249					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)		GGTCCTTGATGATTTTTCCCT	0.428000														100			53		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9076139	9076139	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:9076139G>A	uc002mkp.3	-	2	11511	c.11307C>T	c.(11305-11307)atC>atT	p.I3769I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3770	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						TAGCTGGGCTGATCATGGTTT	0.527000														68			46		0	0	0.003214	0	0
NOD1	10392	broad.mit.edu	37	7	30492118	30492118	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:30492118C>T	uc003tav.3	-	5	1438	c.915G>A	c.(913-915)tgG>tgA	p.W305*	NOD1_uc010kvs.2_3'UTR	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	305	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						GGGCAGGCTCCCAGGGGCAGG	0.667000														22			11		0	0	0.008291	0	0
KRTAP3-1	83896	broad.mit.edu	37	17	39165283	39165283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:39165283G>A	uc002hvt.1	-	0	84	c.44C>T	c.(43-45)cCt>cTt	p.P15L		NM_031958	NP_114164	Q9BYR8	KRA31_HUMAN	Homo sapiens keratin associated protein 3-1 (KRTAP3-1), mRNA.	15	4 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				GGTGGTGGCAGGGCCGGTGGG	0.562000														74			42		0	0	0.003610	0	0
ROCK2	9475	broad.mit.edu	37	2	11364448	11364448	+	Splice_Site	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:11364448C>T	uc002rbd.1	-	7	1456	c.1007_splice	c.e7+1	p.R336_splice		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	336	Protein kinase.				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)		TGTACATTACCTATCTGTTAA	0.318000														36			15		0	0	0.004990	0	0
ALB	213	broad.mit.edu	37	4	74283322	74283322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:74283322G>A	uc003hgs.4	+	10	1437	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	ALB_uc011cbe.2_Missense_Mutation_p.G134E|ALB_uc003hgw.4_Missense_Mutation_p.G263E|ALB_uc011cbf.2_Missense_Mutation_p.G345E	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	455	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AGAAACCTAGGAAAAGTGGGC	0.358000														46			18		0	0	0.001882	0	0
ZNF676	163223	broad.mit.edu	37	19	22364370	22364370	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:22364370G>A	uc002nqs.1	-	2	467	c.149C>T	c.(148-150)tCc>tTc	p.S50F		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	50					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)				AAACTCTTGGGAAAAATGAGA	0.274000														20			8		0	0	0.003080	0	0
FAM168A	23201	broad.mit.edu	37	11	73130926	73130926	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:73130926C>T	uc001otz.1	-	4	576	c.297G>A	c.(295-297)gcG>gcA	p.A99A	FAM168A_uc009ytp.1_Silent_p.A90A|FAM168A_uc001oty.1_Silent_p.A90A	NM_015159	NP_055974	Q92567	F168A_HUMAN	Homo sapiens family with sequence similarity 168, member A (FAM168A), mRNA.	99								p.A90A(1)		endometrium(3)|kidney(1)|lung(1)	5						TACTGAAAGCCGCAGAGGATG	0.498000														20			14		0	0	0.004007	0	0
HIPK4	147746	broad.mit.edu	37	19	40889927	40889927	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:40889927C>T	uc002onp.3	-	1	870	c.585G>A	c.(583-585)aaG>aaA	p.K195K		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	195	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)			ACACGTCCACCTTCTCGCAGA	0.632000														28			21		0	0	0.002299	0	0
PNPLA4	8228	broad.mit.edu	37	X	7894014	7894014	+	Silent	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:7894014A>G	uc011mhq.1	-	1	309	c.147T>C	c.(145-147)gcT>gcC	p.A49A	PNPLA4_uc011mhr.1_Silent_p.A49A|PNPLA4_uc011mhs.1_Intron	NM_004650	NP_001166143	P41247	PLPL4_HUMAN	Homo sapiens patatin-like phospholipase domain containing 4 (PNPLA4), transcript variant 1, mRNA.	49	Patatin.				lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				GCAGAACAGAAGCAACCAACG	0.458000											OREG0019651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			13		0	0	0.002450	0	0
HYDIN	54768	broad.mit.edu	37	16	70908799	70908799	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:70908799C>T	uc002ezr.3	-	62	10729	c.10578G>A	c.(10576-10578)gaG>gaA	p.E3526E		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3527										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)				AGACTCCTAGCTCATCCTGCA	0.517000														14			8		0	0	0.000978	0	0
USP10	9100	broad.mit.edu	37	16	84792359	84792359	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:84792359G>A	uc010voe.2	+	5	1493	c.1242G>A	c.(1240-1242)gtG>gtA	p.V414V	USP10_uc002fii.3_Silent_p.V410V|USP10_uc010vof.2_5'UTR|USP10_uc002fij.3_Intron	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	410					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						ATAAACCAGTGTCGTTGCAAC	0.448000														72			30		0	0	0.002096	0	0
ACE2	59272	broad.mit.edu	37	X	15582305	15582305	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:15582305C>T	uc004cxa.1	-	16	2319	c.2151G>A	c.(2149-2151)ctG>ctA	p.L717L	ACE2_uc004cxb.2_Silent_p.L717L	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	717					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TGTTGTCATTCAGACGGAAAG	0.438000														99			53		0	0	0.003610	0	0
OR4K1	79544	broad.mit.edu	37	14	20404752	20404752	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:20404752G>A	uc001vwj.2	+	0	986	c.927G>A	c.(925-927)tgG>tgA	p.W309*		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	309					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)		TGAACTCCTGGAAAAACTAGG	0.438000														30			12		0	0	0.001368	0	0
DNAH1	25981	broad.mit.edu	37	3	52404799	52404799	+	Silent	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:52404799T>C	uc011bef.2	+	40	6744	c.6483T>C	c.(6481-6483)agT>agC	p.S2161S		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2161					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)		CGGGCATCAGTGGCACCAACG	0.612000														11			5		0	0	0.001984	0	0
NEBL	10529	broad.mit.edu	37	10	21178808	21178808	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:21178808T>A	uc001iqi.3	-	2	621	c.224A>T	c.(223-225)aAc>aTc	p.N75I	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						TTTTACATGGTTTAGCATAGG	0.308000														34			13		0	0	0.002450	0	0
TUBA4A	7277	broad.mit.edu	37	2	220116755	220116755	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:220116755A>C	uc002vkt.1	-	1	259	c.201T>G	c.(199-201)ttT>ttG	p.F67L	TUBA4A_uc010zkz.1_Missense_Mutation_p.F52L|TUBA4B_uc002vku.3_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	Homo sapiens tubulin, alpha 4a (TUBA4A), mRNA.	67					'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)		CCAGATCCACAAAAACTGCCC	0.532000														32			18		0	0	0.008871	0	0
OR14A16	284532	broad.mit.edu	37	1	247978971	247978971	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:247978971T>C	uc001idm.1	-	0	61	c.61A>G	c.(61-63)Atg>Gtg	p.M21V		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N20K(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AAAATGCACATATTTTTATTG	0.383000														34			11		0	0	0.000978	0	0
USP33	23032	broad.mit.edu	37	1	78191348	78191348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:78191348G>A	uc001dht.3	-	11	1675	c.1328C>T	c.(1327-1329)tCa>tTa	p.S443L	USP33_uc001dhs.3_Missense_Mutation_p.S164L|USP33_uc001dhu.3_Missense_Mutation_p.S412L|USP33_uc001dhv.3_Missense_Mutation_p.S248L|USP33_uc001dhw.3_Missense_Mutation_p.S443L	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	443					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						CAAATTGCCTGATTTAGGAGG	0.408000														27			16		0	0	0.003163	0	0
KLHL13	90293	broad.mit.edu	37	X	117079528	117079528	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:117079528C>T	uc011mtp.2	-	2	251	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	KLHL13_uc004eqk.3_5'UTR|KLHL13_uc004eql.3_Missense_Mutation_p.E37K|KLHL13_uc011mtn.2_5'UTR|KLHL13_uc011mto.2_Missense_Mutation_p.E31K|KLHL13_uc011mtq.2_Missense_Mutation_p.E21K|KLHL13_uc004eqm.3_5'UTR|KLHL13_uc022cde.1_Missense_Mutation_p.E21K	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	37					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCTTCCTCTTCCACGAGAGAT	0.388000														31			7		0	0	0.003080	0	0
AOAH	313	broad.mit.edu	37	7	36633946	36633946	+	Splice_Site	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:36633946C>T	uc022abu.1	-	12	1339	c.938_splice	c.e12+1	p.G313_splice	AOAH_uc003tfh.4_Splice_Site_p.G313_splice|AOAH_uc011kba.2_Splice_Site_p.G281_splice	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	313					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GACACTTACCCAACAGTGGAG	0.443000														54			20		0	0	0.003330	0	0
DOLPP1	57171	broad.mit.edu	37	9	131847310	131847310	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:131847310C>T	uc004bxc.3	+	2	214	c.186C>T	c.(184-186)ttC>ttT	p.F62F	DOLPP1_uc004bxd.3_Silent_p.F62F|DOLPP1_uc004bxe.3_Intron	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN	Homo sapiens dolichyl pyrophosphate phosphatase 1 (DOLPP1), transcript variant 1, mRNA.	62					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						AGATCTCCTTCCTTGGGGGCC	0.612000														33			18		0	0	0.006122	0	0
PLCZ1	89869	broad.mit.edu	37	12	18876251	18876251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:18876251C>T	uc021qvx.1	-	3	552	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	PLCZ1_uc001rdv.4_Missense_Mutation_p.E17K|PLCZ1_uc001rdw.4_Intron	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	121					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					ATACCTTCTTCGATAGGCTCG	0.294000														15			4		0	0	0.000602	0	0
C3	718	broad.mit.edu	37	19	6707508	6707508	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:6707508G>A	uc002mfm.3	-	15	2078	c.2016C>T	c.(2014-2016)tcC>tcT	p.S672S		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	672					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)		TGAGCTGCACGGAACGGCGTC	0.667000														64			37		0	0	0.003610	0	0
RAPGEF6	51735	broad.mit.edu	37	5	131006312	131006312	+	Silent	SNP	G	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:131006312G>T	uc003kvs.1	-	14	3094	c.2952C>A	c.(2950-2952)atC>atA	p.I984I	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Silent_p.I956I	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0	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)		CACTCACTTCGATTAACTTTG	0.383000														66			27		2.24059e-21	2.29718e-21	0.006320	1	0
RBP3	5949	broad.mit.edu	37	10	48388515	48388515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:48388515C>T	uc001jez.3	-	0	2477	c.2363G>A	c.(2362-2364)aGc>aAc	p.S788N		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	788	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)	CGTGGAGTAGCTGCCAGGGTT	0.617000														29			4		0	0	0.000602	0	0
HCLS1	3059	broad.mit.edu	37	3	121350723	121350723	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:121350723G>A	uc003eeh.4	-	13	1556	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	HCLS1_uc011bjj.2_Silent_p.F440F	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	477	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		AATTTGCAGGGAAGAGTCCAA	0.532000														45			35		0	0	0.003271	0	0
DSG3	1830	broad.mit.edu	37	18	29038546	29038546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:29038546G>A	uc002kws.3	+	3	464	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	119	Cadherin 1.				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)			CGACCGGGAGGAAACTCCAAG	0.438000														25			9		0	0	0.006214	0	0
BC101079	0	broad.mit.edu	37	15	102292671	102292671	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:102292671C>T	uc010usj.2	+	3	318	c.259C>T	c.(259-261)Caa>Taa	p.Q87*	DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.																		ACTCTCAGACCAAGGAGTTCA	0.617000														16			4		0	0	0.009096	0	0
INHBB	3625	broad.mit.edu	37	2	121107281	121107281	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:121107281C>T	uc002tmn.2	+	1	1101	c.1055C>T	c.(1054-1056)aCg>aTg	p.T352M		NM_002193	NP_002184	P09529	INHBB_HUMAN	Homo sapiens inhibin, beta B (INHBB), mRNA.	352					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TCCTTCCACACGGCTGTGGTG	0.622000														43			17		0	0	0.004990	0	0
SEC14L3	266629	broad.mit.edu	37	22	30864642	30864642	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:30864642G>A	uc003ahy.3	-	4	365	c.276C>T	c.(274-276)gaC>gaT	p.D92D	SEC14L3_uc003ahz.3_Silent_p.D15D|SEC14L3_uc003aia.3_Silent_p.D33D|SEC14L3_uc003aib.3_Silent_p.D33D	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	92	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	AGCCATCACGGTCATAGCCAC	0.547000														87			40		0	0	0.002522	0	0
TCRBV14S1	0	broad.mit.edu	37	7	142423626	142423626	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142423626C>T	uc010lol.1	+	1	315	c.282C>T	c.(280-282)ccC>ccT	p.P94P	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|TRBV23-1_uc022ans.1_Intron|TCRBV14S1_uc011ksj.1_Non-coding_Transcript|TCRBV14S1_uc022ant.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		GGAATTTCCCCCTGATCCTGG	0.493000														51			12		0	0	0.001855	0	0
STAB2	55576	broad.mit.edu	37	12	104118760	104118760	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:104118760G>A	uc001tjw.3	+	44	4877	c.4691G>A	c.(4690-4692)gGc>gAc	p.G1564D	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1564	EGF-like 14.				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						CAGAAAAATGGCGGCTGTAGT	0.463000														185			86		0	0	0.003610	0	0
IL9R	3581	broad.mit.edu	37	X	155235098	155235098	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:155235098G>A	uc004fnv.1	+	5	914	c.735G>A	c.(733-735)tgG>tgA	p.W245*	IL9R_uc010nvn.2_Nonsense_Mutation_p.W224*|IL9R_uc004fnu.1_Nonsense_Mutation_p.W280*	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	245					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)					CAGGCCAGTGGAGTGAGTGGA	0.607000														44			18		0	0	0.008871	0	0
GPR112	139378	broad.mit.edu	37	X	135427097	135427097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:135427097C>T	uc004ezu.1	+	5	1523	c.1232C>T	c.(1231-1233)tCt>tTt	p.S411F	GPR112_uc010nsb.1_Missense_Mutation_p.S206F|GPR112_uc010nsc.1_Missense_Mutation_p.S178F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	411					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S411S(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)					GAGTCAACATCTATGTCTACA	0.403000														90			40		0	0	0.002852	0	0
PPFIA4	8497	broad.mit.edu	37	1	203015021	203015021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:203015021G>A	uc009xaj.3	+	11	1352	c.1352G>A	c.(1351-1353)cGc>cAc	p.R451H	PPFIA4_uc010pqf.2_Missense_Mutation_p.R11H			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	232					cell communication	cell surface|cytoplasm	protein binding	p.R451P(2)		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						CTGGAGAAGCGCTACCTGGCT	0.572000														223			12		0	0	0.001368	0	0
NUDT5	11164	broad.mit.edu	37	10	12221127	12221127	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:12221127A>G	uc001ilj.3	-	3	552	c.136T>C	c.(136-138)Tgg>Cgg	p.W46R		NM_014142	NP_054861	Q9UKK9	NUDT5_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 5 (NUDT5), mRNA.	46	Substrate binding; shared with dimeric partner.				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				ACTGATTCCCAAGTTCTGTTC	0.408000														276			116		0	0	0.003610	0	0
MAPK4	5596	broad.mit.edu	37	18	48190513	48190513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:48190513C>T	uc002lev.3	+	1	1185	c.185C>T	c.(184-186)gCg>gTg	p.A62V	MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Missense_Mutation_p.A62V	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	62	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		ATGAAGCACGCGCTCCGAGAG	0.612000														46			19		0	0	0.007413	0	0
CYB5A	1528	broad.mit.edu	37	18	71930586	71930586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:71930586G>A	uc002lli.3	-	1	397	c.256C>T	c.(256-258)Cca>Tca	p.P86S	CYB5A_uc021ull.1_Missense_Mutation_p.P86S|CYB5A_uc002llh.3_Missense_Mutation_p.P86S	NM_148923	NP_683725	P00167	CYB5_HUMAN	Homo sapiens cytochrome b5 type A (microsomal) (CYB5A), transcript variant 1, mRNA.	86					electron transport chain|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)	4		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)			Methoxyflurane(DB01028)	GTACTTACTGGATGGAGCTCC	0.438000														49			19		0	0	0.008871	0	0
ENAM	10117	broad.mit.edu	37	4	71510227	71510227	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:71510227C>T	uc011caw.1	+	8	3365	c.3084C>T	c.(3082-3084)tcC>tcT	p.S1028S		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	1028					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)			ATGAAGGCTCCAATCCAGAAG	0.428000														49			26		0	0	0.003330	0	0
NLRC4	58484	broad.mit.edu	37	2	32474961	32474961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:32474961C>T	uc002roi.3	-	3	2233	c.1972G>A	c.(1972-1974)Gaa>Aaa	p.E658K	NLRC4_uc021vfq.1_Missense_Mutation_p.E658K|NLRC4_uc002roj.2_Missense_Mutation_p.E658K|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	658					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)					GTCCTGAATTCCTGCTTCCAG	0.483000														106			30		0	0	0.009535	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857462	9857462	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:9857462G>A	uc010uym.2	-	13	4249	c.3939C>T	c.(3937-3939)ctC>ctT	p.L1313L	GRIN2A_uc002czo.4_Silent_p.L1313L|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.	1313					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)	CCCTGTCCTTGAGGCTTATGC	0.502000														75			34		0	0	0.003271	0	0
CNGA4	1262	broad.mit.edu	37	11	6261650	6261650	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:6261650C>T	uc001mco.3	+	3	741	c.626C>T	c.(625-627)cCt>cTt	p.P209L	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.P169L	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	209					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)		CCCGCGCAGCCTGGCTTTGAG	0.582000														66			37		0	0	0.007835	0	0
SEPT1	1731	broad.mit.edu	37	16	30392507	30392507	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:30392507G>T	uc002dxy.3	-	6	686	c.499C>A	c.(499-501)Cca>Aca	p.P167T	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.	167					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)			CCAATGACTGGGATGATGTTG	0.587000														85			32		1.06801e-11	1.08707e-11	0.009535	1	0
TNFRSF21	27242	broad.mit.edu	37	6	47253756	47253756	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:47253756G>A	uc003oyv.3	-	1	1105	c.672C>T	c.(670-672)tcC>tcT	p.S224S		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	224					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CTGTGCCAGGGGAAGGTGAGG	0.527000														35			19		0	0	0.007413	0	0
MYH10	4628	broad.mit.edu	37	17	8409749	8409749	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:8409749G>A	uc002glm.3	-	26	3369	c.3273C>T	c.(3271-3273)ctC>ctT	p.L1091L	MYH10_uc002gll.3_Silent_p.L1060L|MYH10_uc010cnx.3_Silent_p.L1069L	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1060					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						TCTCCCCGTCGAGTTTTCTTT	0.517000														88			31		0	0	0.002096	0	0
PSAP	5660	broad.mit.edu	37	10	73594158	73594158	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:73594158G>A	uc001jsm.3	-	1	249	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L		NM_002778	NP_002769	P07602	SAP_HUMAN	Homo sapiens prosaposin (PSAP), transcript variant 1, mRNA.	49	Saposin A-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						ACGGTCTGCAGGCAGTGCTTC	0.617000														18			10		0	0	0.006214	0	0
PYGM	5837	broad.mit.edu	37	11	64526124	64526124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:64526124G>A	uc001oax.4	-	1	1113	c.296C>T	c.(295-297)aCc>aTc	p.T99I	PYGM_uc001oay.4_Intron	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	99					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)	GTTCACCATGGTGTTCTGTAG	0.587000														26			24		0	0	0.006320	0	0
SLC34A2	10568	broad.mit.edu	37	4	25664129	25664129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:25664129C>T	uc003grr.3	+	1	88	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S	SLC34A2_uc003grs.3_Missense_Mutation_p.P3S|SLC34A2_uc010iev.3_Missense_Mutation_p.P3S	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	3					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)				GACCATGGCTCCCTGGCCTGA	0.532000			T	ROS1	NSCLC									27			14		0	0	0.002450	0	0
PLB1	151056	broad.mit.edu	37	2	28748155	28748155	+	Missense_Mutation	SNP	G	A	A	rs139585910		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:28748155G>A	uc002rmb.2	+	4	309	c.265G>A	c.(265-267)Gat>Aat	p.D89N	PLB1_uc010ezj.2_Missense_Mutation_p.D89N	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	89	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGGGACGGGCGATCTGGAGAA	0.507000														18			12		0	0	0.004007	0	0
KCND2	3751	broad.mit.edu	37	7	120385919	120385919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:120385919C>T	uc003vjj.1	+	4	2518	c.1553C>T	c.(1552-1554)tCa>tTa	p.S518L		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	518					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)					CACAGTCCTTCACTGTCTTCA	0.448000														81			35		0	0	0.005524	0	0
CYP2C9	1559	broad.mit.edu	37	10	96748604	96748604	+	Splice_Site	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:96748604G>A	uc001kka.4	+	9	1317	c.1292_splice	c.e9-1	p.G431_splice	CYP2C9_uc009xut.3_Splice_Site_p.G429_splice	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	431					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CTATTTTCAGGAAAACGGATT	0.438000														74			29		0	0	0.009535	0	0
TRPV3	162514	broad.mit.edu	37	17	3431398	3431398	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:3431398A>G	uc002fvr.2	-	10	1746	c.1424T>C	c.(1423-1425)cTg>cCg	p.L475P	TRPV3_uc002fvs.1_Non-coding_Transcript|TRPV3_uc010vrh.1_Missense_Mutation_p.L459P|TRPV3_uc010vri.1_Missense_Mutation_p.L430P|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.L475P|TRPV3_uc010vrj.1_Missense_Mutation_p.L459P|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Missense_Mutation_p.L459P|TRPV3_uc002fvu.3_Missense_Mutation_p.L475P|TRPV3_uc010vrn.1_Missense_Mutation_p.L57P	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	475						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)	CTTGTGCGTCAGGGCCAAGGG	0.592000														45			3		0	0	0.004672	0	0
DCC	1630	broad.mit.edu	37	18	50985695	50985695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:50985695G>A	uc002lfe.2	+	23	4102	c.3486G>A	c.(3484-3486)atG>atA	p.M1162I	DCC_uc010dpf.2_Missense_Mutation_p.M797I	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1162					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)		AAATGGAGATGAAAAATATTG	0.522000														83			33		0	0	0.003271	0	0
IGSF10	285313	broad.mit.edu	37	3	151166011	151166011	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:151166011G>A	uc011bod.2	-	3	1758	c.1758C>T	c.(1756-1758)ttC>ttT	p.F586F		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	586	Ig-like C2-type 2.				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)			TTTCACCAATGAAAACTGTGT	0.413000														62			22		0	0	0.001882	0	0
AQP2	359	broad.mit.edu	37	12	50348455	50348455	+	Missense_Mutation	SNP	G	A	A	rs104894341		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:50348455G>A	uc001rvn.3	+	2	658	c.568G>A	c.(568-570)Gct>Act	p.A190T		NM_000486	NP_000477	P41181	AQP2_HUMAN	Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA.	190			A -> T (in ANDI; mutant protein does not fold properly and is not functional).		cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						CCGCTCCCTGGCTCCAGCTGT	0.552000														77			29		0	0	0.002836	0	0
BAIAP2	10458	broad.mit.edu	37	17	79080642	79080642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:79080642C>T	uc002jzg.2	+	11	1543	c.1435C>T	c.(1435-1437)Ccc>Tcc	p.P479S	BAIAP2_uc002jyz.4_Missense_Mutation_p.P479S|BAIAP2_uc002jza.2_Missense_Mutation_p.P479S|BAIAP2_uc002jzc.2_Missense_Mutation_p.P480S|BAIAP2_uc002jzb.2_Missense_Mutation_p.P236S|BAIAP2_uc010wuh.1_Missense_Mutation_p.P401S|BAIAP2_uc002jzd.2_Missense_Mutation_p.P479S|BAIAP2_uc002jzf.2_Missense_Mutation_p.P479S|BAIAP2_uc002jze.2_Missense_Mutation_p.P512S|BAIAP2_uc002jzh.2_Missense_Mutation_p.P480S|BAIAP2_uc010wui.2_Missense_Mutation_p.P342S	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA.	479					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)			CCGGGCCTTCCCCGCCCAGAC	0.726000														18			19		0	0	0.001882	0	0
NT5M	56953	broad.mit.edu	37	17	17248135	17248135	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:17248135C>T	uc002grf.3	+	3	642	c.457C>T	c.(457-459)Cct>Tct	p.P153S	NT5M_uc002grg.3_Missense_Mutation_p.P153S	NM_020201	NP_064586	Q9NPB1	NT5M_HUMAN	Homo sapiens 5',3'-nucleotidase, mitochondrial (NT5M), nuclear gene encoding mitochondrial protein, mRNA.	153					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						GTACTTTGGCCCTGACTTTCT	0.567000														98			35		0	0	0.006999	0	0
LAIR1	3903	broad.mit.edu	37	19	54872792	54872792	+	Missense_Mutation	SNP	G	A	A	rs141229178		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:54872792G>A	uc002qfk.1	-	2	405	c.95C>T	c.(94-96)tCg>tTg	p.S32L	LAIR1_uc002qfl.1_Missense_Mutation_p.S32L|LAIR1_uc002qfm.1_Missense_Mutation_p.S31L|LAIR1_uc002qfn.1_Missense_Mutation_p.S31L|LAIR1_uc010yex.2_Missense_Mutation_p.S25L|LAIR1_uc002qfo.3_Missense_Mutation_p.S14L	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	32	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TGGCTCAGCCGAGATGGAGGG	0.587000														92			40		0	0	0.008740	0	0
FCGBP	8857	broad.mit.edu	37	19	40419615	40419615	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:40419615T>A	uc002omp.4	-	5	3387	c.3379A>T	c.(3379-3381)Agg>Tgg	p.R1127W		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1127						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)			TCTTCACTCCTCCAGGGGTGC	0.512000														83			33		0	0	0.005524	0	0
DNAH2	146754	broad.mit.edu	37	17	7726784	7726784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:7726784G>A	uc002giu.1	+	72	11181	c.11167G>A	c.(11167-11169)Gac>Aac	p.D3723N	DNAH2_uc010cnm.1_Missense_Mutation_p.D661N	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3723					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)				GGGCCAAATGGACAATCCATG	0.478000														88			33		0	0	0.004289	0	0
RGS7	6000	broad.mit.edu	37	1	241099902	241099902	+	Nonsense_Mutation	SNP	G	A	A	rs138071681		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:241099902G>A	uc001hyv.2	-	4	661	c.331C>T	c.(331-333)Caa>Taa	p.Q111*	RGS7_uc010pyh.2_Nonsense_Mutation_p.Q85*|RGS7_uc010pyj.1_Nonsense_Mutation_p.Q27*|RGS7_uc001hyu.2_Nonsense_Mutation_p.Q111*|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Nonsense_Mutation_p.Q111*	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	111	DEP.				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	p.F110L(1)		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)			AAACTTACTTGAAACCGGTAA	0.393000														61			28		0	0	0.002096	0	0
CDH7	1005	broad.mit.edu	37	18	63430284	63430284	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:63430284G>A	uc002lkb.3	+	1	632	c.206G>A	c.(205-207)gGa>gAa	p.G69E	CDH7_uc002ljz.3_Missense_Mutation_p.G69E|CDH7_uc002lka.3_Missense_Mutation_p.G69E	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	69	Cadherin 1.				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)				CTCTATGTAGGAAAGGTAGGG	0.408000														31			4		0	0	0.001168	0	0
PTGIR	5739	broad.mit.edu	37	19	47124880	47124880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:47124880C>T	uc002pex.3	-	2	931	c.818G>A	c.(817-819)gGg>gAg	p.G273E		NM_000960	NP_000951	P43119	PI2R_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) receptor (IP) (PTGIR), mRNA.	273					G-protein signaling, coupled to cyclic nucleotide second messenger|cell-cell signaling|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	AAGGAGGTCCCCCATCTCACT	0.627000														39			23		0	0	0.003954	0	0
LIG4	3981	broad.mit.edu	37	13	108861588	108861588	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:108861588C>T	uc001vqn.3	-	1	2302	c.2029G>A	c.(2029-2031)Gac>Aac	p.D677N	LIG4_uc001vqo.3_Missense_Mutation_p.D677N|LIG4_uc010agf.3_Missense_Mutation_p.D677N|LIG4_uc001vqp.3_Missense_Mutation_p.D677N|LIG4_uc010agg.1_Missense_Mutation_p.D610N|LIG4_uc021rmk.1_Missense_Mutation_p.D677N	NM_002312	NP_996820	P49917	DNLI4_HUMAN	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.	677	BRCT 1.				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)					TTCTCCAGGTCAGGCTTTGGC	0.388000								Non-homologous end-joining						33			17		0	0	0.006122	0	0
CELSR3	1951	broad.mit.edu	37	3	48677414	48677415	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:48677414_48677415CC>TT	uc003cuf.1	-	35	9897_9898	c.9897_9898GG>AA	c.(9895-9900)cgggag>cgAAag	p.E3300K	CELSR3_uc010hkf.3_Missense_Mutation_p.E492K|CELSR3_uc010hkg.3_Missense_Mutation_p.E1185K|CELSR3_uc003cul.3_Missense_Mutation_p.E3202K	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	3202					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)		TCCAGCTGCTCCCGAGAGTTCG	0.673000														41			18		0	0	0.004672	0	0
WDR72	256764	broad.mit.edu	37	15	54003658	54003658	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:54003658A>T	uc002acj.2	-	7	774	c.732T>A	c.(730-732)ttT>ttA	p.F244L	WDR72_uc010bfi.1_Missense_Mutation_p.F244L	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	244										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)		GCAGAAGGGAAAAATCACAAT	0.358000														31			10		0	0	0.008291	0	0
PCSK1	5122	broad.mit.edu	37	5	95757642	95757642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:95757642C>T	uc003kls.2	-	4	801	c.562G>A	c.(562-564)Gat>Aat	p.D188N	PCSK1_uc021ybq.1_Missense_Mutation_p.D141N	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	188	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)	TCATTAAAATCATAGCTAGCC	0.328000														93			38		0	0	0.008740	0	0
AL117485	0	broad.mit.edu	37	22	18844766	18844766	+	RNA	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:18844766G>A	uc002zoe.3	+	3		c.2020G>A			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		CAGCCTCTGAGGGCAGCAGTG	0.557000														12			7		0	0	0.001984	0	0
AKR1CL1	340811	broad.mit.edu	37	10	5203849	5203849	+	RNA	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:5203849G>A	uc009xhz.2	-	2		c.431C>T								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						GAATAATGAAGAGATCTACAT	0.413000														23			9		0	0	0.004482	0	0
EPHB6	2051	broad.mit.edu	37	7	142565436	142565436	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142565436C>T	uc011kst.2	+	11	2608	c.1821C>T	c.(1819-1821)ctC>ctT	p.L607L	EPHB6_uc011ksu.2_Silent_p.L607L|EPHB6_uc003wbs.3_Silent_p.L315L|EPHB6_uc003wbt.3_Silent_p.L81L|EPHB6_uc003wbu.3_Silent_p.L315L|EPHB6_uc003wbv.3_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	607						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)					TGGCCTTCCTCCTGCTGGCAG	0.632000														36			14		0	0	0.006122	0	0
FRMD1	79981	broad.mit.edu	37	6	168458000	168458000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:168458000C>T	uc003qwo.4	-	10	1492	c.1427G>A	c.(1426-1428)gGg>gAg	p.G476E	FRMD1_uc003qwm.4_Missense_Mutation_p.G270E|FRMD1_uc011egs.2_Missense_Mutation_p.G247E|FRMD1_uc011egt.2_Missense_Mutation_p.G411E|FRMD1_uc003qwn.4_Missense_Mutation_p.G408E	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	476						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)		CTCACTGACCCCGGCTGTCAT	0.662000														16			6		0	0	0.001168	0	0
ABCD2	225	broad.mit.edu	37	12	39997802	39997802	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:39997802A>G	uc001rmb.2	-	4	1838	c.1412T>C	c.(1411-1413)gTt>gCt	p.V471A		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	471					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						CACATCAATAACTTTTCCTGT	0.313000														46			23		0	0	0.002780	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800608	70800608	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:70800608C>A	uc003tvy.3	+	1	311	c.311C>A	c.(310-312)tCc>tAc	p.S104Y	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	104						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCTACTCTTTCCCCGGCTGAA	0.463000														39			19		8.28177e-16	8.47857e-16	0.007413	1	0
GRIN2A	2903	broad.mit.edu	37	16	9857975	9857975	+	Silent	SNP	G	A	A	rs150487431		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:9857975G>A	uc010uym.2	-	13	3736	c.3426C>T	c.(3424-3426)ccC>ccT	p.P1142P	GRIN2A_uc002czo.4_Silent_p.P1142P|GRIN2A_uc010uyn.2_Silent_p.P985P|GRIN2A_uc002czr.4_Silent_p.P1142P	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1142					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)	CCACGTTCTCGGGCAGGGTCA	0.522000														93			30		0	0	0.002096	0	0
COL6A3	1293	broad.mit.edu	37	2	238243470	238243470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:238243470C>T	uc002vwl.2	-	40	9313	c.9028G>A	c.(9028-9030)Gag>Aag	p.E3010K	COL6A3_uc002vwo.2_Missense_Mutation_p.E2804K|COL6A3_uc010znj.1_Missense_Mutation_p.E2403K|COL6A3_uc002vwj.2_Missense_Mutation_p.E391K	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	3010	Fibronectin type-III.|Nonhelical region.				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)		TCAGCCCTCTCCCAGTGGAGT	0.498000														51			26		0	0	0.003954	0	0
NTNG1	22854	broad.mit.edu	37	1	107691441	107691441	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:107691441C>T	uc001dvh.4	+	1	944	c.226C>T	c.(226-228)Cct>Tct	p.P76S	NTNG1_uc001dvc.4_Missense_Mutation_p.P76S|NTNG1_uc010out.2_Missense_Mutation_p.P76S|NTNG1_uc001dvf.4_Missense_Mutation_p.P76S|NTNG1_uc001dvd.1_Missense_Mutation_p.P76S	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	76	Laminin N-terminal.				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)		TGGAGACCCTCCTGAGACGTT	0.438000														59			22		0	0	0.002780	0	0
PIK3R6	146850	broad.mit.edu	37	17	8706699	8706699	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:8706699G>A	uc002glq.1	-	20	2394	c.2154C>T	c.(2152-2154)tcC>tcT	p.S718S	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.	719					platelet activation	cytosol											ACGGTGCCTTGGACTTCTGGG	0.552000														31			9		0	0	0.004482	0	0
LRTM2	654429	broad.mit.edu	37	12	1940547	1940547	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:1940547C>T	uc001qjt.2	+	3	1320	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.R172C|LRTM2_uc010sdx.1_Missense_Mutation_p.R172C|LRTM2_uc001qjv.2_Intron	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	172						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CCTCTCGCTTCGCTCCAACCG	0.627000														50			19		0	0	0.007413	0	0
SCN1A	6323	broad.mit.edu	37	2	166896101	166896101	+	Silent	SNP	G	A	A	rs145101180	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:166896101G>A	uc002udo.4	-	15	2648	c.2421C>T	c.(2419-2421)ttC>ttT	p.F807F	SCN1A_uc010fpk.3_Silent_p.F779F|SCN1A_uc021vsb.1_Silent_p.F796F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	807						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)	AGATCCCAGTGAAAACCTAAG	0.318000														20			10		0	0	0.000978	0	0
CXCR7	57007	broad.mit.edu	37	2	237489138	237489138	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:237489138G>A	uc021vys.1	+	0	30	c.30G>A	c.(28-30)gaG>gaA	p.E10E	CXCR7_uc010fyq.3_Silent_p.E10E|CXCR7_uc002vwd.3_Silent_p.E10E	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	10					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)		ACTACTCAGAGCCAGGGAACT	0.507000														44			17		0	0	0.010504	0	0
GRM7	2917	broad.mit.edu	37	3	7620949	7620949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:7620949G>A	uc003bqm.2	+	7	2630	c.2356G>A	c.(2356-2358)Gaa>Aaa	p.E786K	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.E786K|GRM7_uc003bql.2_Missense_Mutation_p.E786K|GRM7_uc003bqn.1_Missense_Mutation_p.E369K|GRM7_uc010hch.1_Missense_Mutation_p.E297K	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	786					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)	GAATTTTAACGAAGCCAAGCC	0.433000														28			10		0	0	0.008291	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18767584	18767584	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:18767584G>A	uc010exr.3	-	2	306	c.194C>T	c.(193-195)tCc>tTc	p.S65F	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.S125F|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.S65F|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.S125F|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.S108F|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.S142F|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.S125F|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.S65F|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.	125					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										TGGGCTCCGGGATATTCTAGA	0.493000														50			27		0	0	0.006320	0	0
FAT3	120114	broad.mit.edu	37	11	92088481	92088481	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:92088481G>A	uc001pdj.4	+	0	3220	c.3203G>A	c.(3202-3204)cGa>cAa	p.R1068Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1068	Cadherin 10.				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)				GTGACTGCTCGAGATGAAGAC	0.483000										TCGA Ovarian(4;0.039)				206			152		0	0	0.003610	0	0
FAM47A	158724	broad.mit.edu	37	X	34148678	34148678	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:34148678G>A	uc004ddg.3	-	0	1770	c.1718C>T	c.(1717-1719)cCc>cTc	p.P573L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	573										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCGAATCTTGGGAGGCTCCGA	0.517000														57			24		0	0	0.003954	0	0
ANK1	286	broad.mit.edu	37	8	41583332	41583332	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:41583332G>A	uc003xok.3	-	5	643	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.R187C|ANK1_uc003xoj.3_Missense_Mutation_p.R187C|ANK1_uc003xol.3_Missense_Mutation_p.R187C|ANK1_uc003xom.3_Missense_Mutation_p.R220C	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	187	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)			GCAGCCGTGCGCGTGTCGTCG	0.697000														19			5		0	0	0.001168	0	0
CYP4X1	260293	broad.mit.edu	37	1	47515764	47515764	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:47515764G>A	uc001cqt.3	+	11	1698	c.1448G>A	c.(1447-1449)aGg>aAg	p.R483K	CYP4X1_uc001cqr.3_Missense_Mutation_p.R482K|CYP4X1_uc001cqs.3_Missense_Mutation_p.R418K	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	483						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						GACCCCACCAGGCCTCTTACT	0.458000														75			43		0	0	0.008740	0	0
NTRK3	4916	broad.mit.edu	37	15	88678469	88678469	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:88678469C>T	uc002bme.2	-	9	1373	c.1067G>A	c.(1066-1068)gGa>gAa	p.G356E	NTRK3_uc002bmh.2_Missense_Mutation_p.G356E|NTRK3_uc002bmf.2_Missense_Mutation_p.G356E|NTRK3_uc021sua.1_Missense_Mutation_p.G356E|NTRK3_uc010upl.1_Missense_Mutation_p.G258E|NTRK3_uc010bnh.1_Missense_Mutation_p.G356E|NTRK3_uc002bmg.3_Missense_Mutation_p.G356E	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	356	Ig-like C2-type 2.				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)			GGAAATCTCTCCCTCTTGGTA	0.557000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				75			31		0	0	0.004289	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594388	140594388	+	Silent	SNP	C	T	T	rs137857098		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:140594388C>T	uc003lja.1	+	0	880	c.693C>T	c.(691-693)atC>atT	p.I231I		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	231	Cadherin 2.				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)			AGGTCTACATCGAAGTCCTGG	0.532000														138			50		0	0	0.003610	0	0
KIF21A	55605	broad.mit.edu	37	12	39703441	39703441	+	Silent	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:39703441A>G	uc001rly.3	-	32	4644	c.4224T>C	c.(4222-4224)tcT>tcC	p.S1408S	KIF21A_uc001rlv.3_Silent_p.S353S|KIF21A_uc001rlw.3_Silent_p.S678S|KIF21A_uc001rlx.3_Silent_p.S1395S|KIF21A_uc001rlz.3_Silent_p.S1355S|KIF21A_uc010skl.2_Silent_p.S1371S|KIF21A_uc001rlt.3_Silent_p.S28S|KIF21A_uc001rlu.3_Silent_p.S28S	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	1408					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)				CCTTAATATAAGATGTTGATA	0.388000														21			10		0	0	0.006214	0	0
ABCC10	89845	broad.mit.edu	37	6	43413539	43413539	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:43413539A>G	uc003ouy.1	+	14	3448	c.3233A>G	c.(3232-3234)tAc>tGc	p.Y1078C	ABCC10_uc003ouz.1_Missense_Mutation_p.Y1050C|ABCC10_uc010jyo.1_Missense_Mutation_p.Y184C	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1078	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			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)			AGCATCATGTACTATCACGTG	0.662000														51			14		0	0	0.002450	0	0
PSG7	5676	broad.mit.edu	37	19	43430593	43430593	+	Missense_Mutation	SNP	G	A	A	rs111443232		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:43430593G>A	uc002ovl.4	-	4	1084	c.982C>T	c.(982-984)Ctc>Ttc	p.L328F	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.L207F	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	329					female pregnancy	extracellular region							Prostate(69;0.00682)				TACTCACAGAGGACATTCAGG	0.522000														97			47		0	0	0.003610	0	0
KLK9	284366	broad.mit.edu	37	19	51509946	51509946	+	Silent	SNP	G	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:51509946G>T	uc002pux.1	-	2	321	c.234C>A	c.(232-234)ctC>ctA	p.L78L	KLK9_uc002puw.1_Non-coding_Transcript|KLK9_uc010eol.1_Silent_p.L49L|KLK8_uc002puv.1_5'Flank	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN	Homo sapiens kallikrein-related peptidase 9 (KLK9), mRNA.	78	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CCCATTTCCAGAGGTGGTGCT	0.582000														23			14		1.5842e-08	1.60781e-08	0.001855	1	0
ZNF812	729648	broad.mit.edu	37	19	9800950	9800950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:9800950G>A	uc021uop.1	-	5	1875	c.1229C>T	c.(1228-1230)aCt>aTt	p.T410I	ZNF812_uc010xkx.2_Missense_Mutation_p.T306I	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TCTGGTATGAGTTTGCAGGTG	0.403000														37			14		0	0	0.003163	0	0
XIRP2	129446	broad.mit.edu	37	2	168106072	168106072	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:168106072G>A	uc002udx.3	+	8	8259	c.8170G>A	c.(8170-8172)Gaa>Aaa	p.E2724K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E2549K|XIRP2_uc010fpq.3_Missense_Mutation_p.E2502K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2549					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						TACATTAAATGAAACAGACCA	0.353000														57			15		0	0	0.003163	0	0
GTPBP1	9567	broad.mit.edu	37	22	39123256	39123256	+	Silent	SNP	T	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:39123256T>G	uc003awg.3	+	8	1594	c.1440T>G	c.(1438-1440)gtT>gtG	p.V480V		NM_004286	NP_004277	O00178	GTPB1_HUMAN	Homo sapiens GTP binding protein 1 (GTPBP1), mRNA.	480					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					TGGTGATGGTTTCCCCACGTT	0.577000														76			38		0	0	0.005524	0	0
WDR16	146845	broad.mit.edu	37	17	9538849	9538849	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:9538849G>A	uc010coc.3	+	11	1707	c.1478G>A	c.(1477-1479)gGg>gAg	p.G493E	WDR16_uc002gly.3_Missense_Mutation_p.G483E|WDR16_uc002glz.3_Missense_Mutation_p.G415E			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	483						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						AGCACCGATGGGACTTGTATC	0.502000														45			14		0	0	0.001855	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765725	77765725	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:77765725G>A	uc003yau.2	+	9	6955	c.6568G>A	c.(6568-6570)Gat>Aat	p.D2190N	ZFHX4_uc003yaw.1_Missense_Mutation_p.D2145N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2145						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)			GAGAAATAAAGATTCACCATA	0.383000										HNSCC(33;0.089)				97			30		0	0	0.003271	0	0
FOLR1	2348	broad.mit.edu	37	11	71906375	71906375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:71906375G>A	uc001orz.2	+	3	505	c.229G>A	c.(229-231)Gat>Aat	p.D77N	FOLR1_uc001osa.2_Missense_Mutation_p.D77N|FOLR1_uc001osb.2_Missense_Mutation_p.D77N|FOLR1_uc001osd.2_Missense_Mutation_p.D77N	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	77					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						AGCCCATAAGGATGTTTCCTA	0.537000														75			49		0	0	0.003610	0	0
ATP2A3	489	broad.mit.edu	37	17	3844589	3844589	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:3844589G>A	uc002fwy.2	-	13	1949	c.1776C>T	c.(1774-1776)acC>acT	p.T592T	ATP2A3_uc002fwz.2_Silent_p.T592T|ATP2A3_uc002fxa.2_Silent_p.T592T|ATP2A3_uc002fxb.2_Silent_p.T592T|ATP2A3_uc002fxc.2_Silent_p.T592T|ATP2A3_uc002fxd.2_Silent_p.T592T|ATP2A3_uc002fwx.2_Silent_p.T592T	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	592					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)		AGCCCACGAAGGTCAGGTCCG	0.657000														56			15		0	0	0.002450	0	0
CCNYL1	151195	broad.mit.edu	37	2	208611847	208611847	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:208611847C>T	uc002vci.3	+	5	920	c.563C>T	c.(562-564)gCc>gTc	p.A188V	CCNYL1_uc002vch.3_Missense_Mutation_p.A169V	NM_001142300	NP_001135772	Q8N7R7	CCYL1_HUMAN	Homo sapiens cyclin Y-like 1 (CCNYL1), transcript variant 1, mRNA.	239	Cyclin N-terminal.				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)		GTTCTGGGAGCCATTCTTCTT	0.433000														40			20		0	0	0.002299	0	0
abParts	0	broad.mit.edu	37	14	106173899	106173899	+	Splice_Site	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:106173899C>T	uc021ser.1	-	4441		c.69268_splice	c.e4441-1		DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron|Ig_alpha_1-[alpha]2m_uc001ysc.3_5'Flank					Parts of antibodies, mostly variable regions.																		GAATGTGTTTCCTGGAGGGTA	0.697000														31			5		0	0	0.004482	0	0
TTBK2	146057	broad.mit.edu	37	15	43045324	43045324	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:43045324G>A	uc001zqo.2	-	13	2559	c.2120C>T	c.(2119-2121)cCa>cTa	p.P707L	TTBK2_uc010bcy.2_Missense_Mutation_p.P638L	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	707					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)		GTTTTCCCTTGGAGAGTAAAG	0.493000														82			34		0	0	0.003271	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045754	142045754	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142045754C>T	uc003vxp.4	+	1	391	c.282C>T	c.(280-282)ttC>ttT	p.F94F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		CTCACTTATTCCTTCACCTAC	0.502000														182			61		0	0	0.003610	0	0
SPTA1	6708	broad.mit.edu	37	1	158636129	158636129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:158636129C>T	uc001fst.1	-	15	2396	c.2197G>A	c.(2197-2199)Gag>Aag	p.E733K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	733					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)					ACAGCCGACTCCAGGAGGCCG	0.522000														12			10		0	0	0.008291	0	0
MYH2	4620	broad.mit.edu	37	17	10428663	10428663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:10428663C>T	uc010coi.3	-	32	4668	c.4540G>A	c.(4540-4542)Gag>Aag	p.E1514K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1514K|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.	1514					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Q1513*(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						TCAGAAATCTCCTCTGTTGTT	0.378000														42			13		0	0	0.002450	0	0
C8orf34	116328	broad.mit.edu	37	8	69434140	69434140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:69434140C>T	uc010lyz.3	+	5	1163	c.872C>T	c.(871-873)cCt>cTt	p.P291L	C8orf34_uc010lyy.2_Missense_Mutation_p.P291L|C8orf34_uc003xyb.3_Missense_Mutation_p.P180L	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	205					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)			ATGCTACAGCCTCCAATTCCA	0.443000														34			19		0	0	0.008871	0	0
OLAH	55301	broad.mit.edu	37	10	15106425	15106425	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:15106425G>A	uc001int.2	+	5	739	c.485G>A	c.(484-486)aGg>aAg	p.R162K	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Missense_Mutation_p.R109K	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA.	109					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						ATTGCTTTTAGGACTGCACTA	0.358000														41			11		0	0	0.000978	0	0
LOC727896	727896	broad.mit.edu	37	18	2946444	2946444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:2946444G>A	uc010wyu.2	-	0	178	c.91C>T	c.(91-93)Cca>Tca	p.P31S	LPIN2_uc002klo.3_Intron					Homo sapiens cysteine and histidine-rich domain (CHORD) containing 1 pseudogene (LOC727896), non-coding RNA.																		TGAAAGACTGGAACGCCTGGG	0.463000														14			5		0	0	0.000602	0	0
MSN	4478	broad.mit.edu	37	X	64959738	64959738	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:64959738G>A	uc004dwf.3	+	12	1915	c.1717G>A	c.(1717-1719)Gaa>Aaa	p.E573K		NM_002444	NP_002435	P26038	MOES_HUMAN	Homo sapiens moesin (MSN), mRNA.	573					leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	p.E573K(2)|p.D572D(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GCGCATTGACGAATTTGAGTC	0.532000			T	ALK	ALCL									73			31		0	0	0.005524	0	0
SLC30A8	169026	broad.mit.edu	37	8	118183386	118183386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:118183386C>T	uc003yoh.3	+	6	1173	c.943C>T	c.(943-945)Ctc>Ttc	p.L315F	SLC30A8_uc010mcz.3_Missense_Mutation_p.L266F|SLC30A8_uc003yog.3_Missense_Mutation_p.L266F|SLC30A8_uc011lia.2_Missense_Mutation_p.L266F|SLC30A8_uc022bab.1_Missense_Mutation_p.L266F	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	315					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	p.L315I(2)		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)			TCAAGTAATTCTCTCAGCTCA	0.423000														356			118		0	0	0.003610	0	0
SPZ1	84654	broad.mit.edu	37	5	79616892	79616892	+	RNA	SNP	A	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:79616892A>T	uc011ctk.1	-	0		c.767T>A			SPZ1_uc003kgn.3_Silent_p.G286G			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)		GAAATAATGGAGTCGGTTTCC	0.408000														56			21		0	0	0.001882	0	0
FILIP1	27145	broad.mit.edu	37	6	76124489	76124489	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:76124489C>T	uc010kbe.3	-	2	739	c.209G>A	c.(208-210)cGa>cAa	p.R70Q	FILIP1_uc003phy.1_Missense_Mutation_p.R67Q|FILIP1_uc003pia.3_Missense_Mutation_p.R67Q	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	67								p.T69I(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						CTTAGTTTTTCGTTCACATTC	0.408000														63			73		0	0	0.003610	0	0
CCDC66	285331	broad.mit.edu	37	3	56627593	56627593	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:56627593C>T	uc003dhz.3	+	8	1230	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	CCDC66_uc003dhy.3_Silent_p.F17F|CCDC66_uc003dhu.3_Silent_p.F347F|CCDC66_uc003dhx.3_Non-coding_Transcript	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.	381										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)		CTCAGCTGTTCTCTCAGTCAA	0.443000														26			12		0	0	0.001368	0	0
ODZ1	10178	broad.mit.edu	37	X	123587292	123587292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:123587292C>T	uc010nqy.3	-	22	4063	c.3999G>A	c.(3997-3999)atG>atA	p.M1333I	ODZ1_uc011muj.2_Missense_Mutation_p.M1332I|ODZ1_uc004euj.3_Missense_Mutation_p.M1326I	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1326					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						TTTTGCGAATCATAGTCCCAT	0.423000														51			29		0	0	0.006320	0	0
TTN	7273	broad.mit.edu	37	2	179596678	179596678	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179596678C>T	uc021vsy.1	-	54	13417	c.13192G>A	c.(13192-13194)Gaa>Aaa	p.E4398K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1059K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5325	Ig-like 24.						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)			GGCTTAAATTCCTTGGTAAAA	0.443000														64			31		0	0	0.008361	0	0
SLC6A20	54716	broad.mit.edu	37	3	45801376	45801376	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:45801376C>T	uc011bai.2	-	9	1726	c.1602G>A	c.(1600-1602)ctG>ctA	p.L534L	SLC6A20_uc003cow.3_Silent_p.L184L|SLC6A20_uc011baj.2_Silent_p.L497L	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	534					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)		CTTGATACTTCAGGGTCCCCG	0.572000														84			52		0	0	0.003610	0	0
DIAPH2	1730	broad.mit.edu	37	X	96192235	96192235	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:96192235C>T	uc004efu.4	+	10	1489	c.1093C>T	c.(1093-1095)Cta>Tta	p.L365L	DIAPH2_uc004eft.4_Silent_p.L365L|DIAPH2_uc004efs.2_Silent_p.L372L	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	365	GBD/FH3.				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						ATATTAGGATCTAAAAGAAAA	0.289000														15			3		0	0	0.004672	0	0
CYP4F22	126410	broad.mit.edu	37	19	15651427	15651427	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:15651427C>T	uc002nbh.4	+	7	1005	c.838C>T	c.(838-840)Cag>Tag	p.Q280*		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	280						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						TGAAGTCATCCAGGAACGGCG	0.612000														71			25		0	0	0.004656	0	0
ARRDC2	27106	broad.mit.edu	37	19	18119156	18119156	+	Silent	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:18119156T>C	uc002nhv.3	+	0	180	c.37T>C	c.(37-39)Ttg>Ctg	p.L13L	ARRDC2_uc002nhu.3_Intron	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	Homo sapiens arrestin domain containing 2 (ARRDC2), transcript variant 1, mRNA.	13										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						CTCGGTGCAGTTGGACGGCGC	0.697000														36			11		0	0	0.001368	0	0
GUCY2F	2986	broad.mit.edu	37	X	108647677	108647677	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:108647677C>A	uc022cch.1	-	8	2090	c.2005G>T	c.(2005-2007)Ggg>Tgg	p.G669W	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.G669W	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	669	Protein kinase.				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	p.H668H(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TTTAGCCTCCCATGAACAAAC	0.388000														87			31		2.80507e-11	2.85236e-11	0.002445	1	0
FRG2B	441581	broad.mit.edu	37	10	135440236	135440236	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:135440236C>T	uc010qvg.2	-	0	64	c.11G>A	c.(10-12)gGa>gAa	p.G4E		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	4						nucleus		p.G4V(2)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GTCTTCATTTCCCTTTCCCAT	0.522000														232			12		0	0	0.002450	0	0
FKBP15	23307	broad.mit.edu	37	9	115940943	115940943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:115940943C>T	uc004bgs.2	-	19	2206	c.2053G>A	c.(2053-2055)Ggc>Agc	p.G685S	FKBP15_uc010muu.1_Missense_Mutation_p.G749S|FKBP15_uc004bgr.2_Missense_Mutation_p.G122S|FKBP15_uc011lxc.1_Missense_Mutation_p.G266S|FKBP15_uc011lxd.1_Missense_Mutation_p.G617S|FKBP15_uc010mut.1_Missense_Mutation_p.G553S	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	685					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						GTGAGCTGGCCCCTGAGAAGA	0.483000														10			5		0	0	0.000602	0	0
FRAS1	80144	broad.mit.edu	37	4	79371446	79371446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:79371446C>T	uc003hlb.2	+	44	6856	c.6416C>T	c.(6415-6417)tCt>tTt	p.S2139F		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2138					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						GAGCAAATTTCTATTAAAGGC	0.502000														61			27		0	0	0.009535	0	0
ITGA5	3678	broad.mit.edu	37	12	54796786	54796786	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:54796786G>A	uc001sga.3	-	18	2031	c.1963C>T	c.(1963-1965)Ctg>Ttg	p.L655L		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	655					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						TCCAGCTGCAGGTCAGGCACA	0.552000														52			29		0	0	0.002445	0	0
DISP2	85455	broad.mit.edu	37	15	40655877	40655878	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:40655877_40655878CC>TT	uc001zlk.1	+	1	260_261	c.171_172CC>TT	c.(169-174)tccctc>tcTTtc	p.L58F		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	58					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)		GAAGCTGCTCCCTCCACAGCTG	0.644000														113			70		0	0	0.004672	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77396127	77396127	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:77396127G>A	uc002ffc.4	-	6	1510	c.1091C>T	c.(1090-1092)tCt>tTt	p.S364F	ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S60F|ADAMTS18_uc010vni.1_Intron	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	364	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						ACTATTCAGAGACTGGTCTGC	0.403000														25			10		0	0	0.006214	0	0
TCRB	0	broad.mit.edu	37	7	142119974	142119974	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142119974G>A	uc022anf.1	-	1	237	c.208C>T	c.(208-210)Ctg>Ttg	p.L70L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022ane.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		AAGTAAGTCAGAAACTCTGGG	0.507000														69			19		0	0	0.008871	0	0
RYR1	6261	broad.mit.edu	37	19	38976641	38976641	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:38976641C>T	uc002oit.3	+	33	5476	c.5346C>T	c.(5344-5346)ttC>ttT	p.F1782F	RYR1_uc002oiu.3_Silent_p.F1782F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1782	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)	CCCCCTGTTTCGTGGCCGCTC	0.682000														33			25		0	0	0.003954	0	0
ABL1	25	broad.mit.edu	37	9	133760588	133760588	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:133760588C>T	uc004bzw.3	+	10	2914	c.2911C>T	c.(2911-2913)Ccg>Tcg	p.P971S	ABL1_uc004bzv.3_Missense_Mutation_p.P990S	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	971	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)	GTCCGCCAAGCCGTCGGGGAC	0.672000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									69			30		0	0	0.009535	0	0
MYO18B	84700	broad.mit.edu	37	22	26400779	26400779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:26400779C>T	uc003abz.1	+	41	6678	c.6428C>T	c.(6427-6429)cCt>cTt	p.P2143L	MYO18B_uc003aca.1_Missense_Mutation_p.P2024L|MYO18B_uc010guy.1_Missense_Mutation_p.P2025L|MYO18B_uc010guz.1_Missense_Mutation_p.P2023L|MYO18B_uc011aka.1_Missense_Mutation_p.P1297L|MYO18B_uc011akb.1_Missense_Mutation_p.P1656L|MYO18B_uc010gva.1_Missense_Mutation_p.P126L	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2143						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						ATGAGGACTCCTTCTCGACAG	0.547000														78			28		0	0	0.007291	0	0
XIRP2	129446	broad.mit.edu	37	2	168106365	168106365	+	Silent	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:168106365A>G	uc002udx.3	+	8	8552	c.8463A>G	c.(8461-8463)aaA>aaG	p.K2821K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.K2646K|XIRP2_uc010fpq.3_Silent_p.K2599K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2646					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						GTGAAGAAAAAAATCAGGGAC	0.408000														31			10		0	0	0.006214	0	0
ARHGAP6	395	broad.mit.edu	37	X	11174743	11174743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:11174743G>A	uc004cup.1	-	9	2686	c.1813C>T	c.(1813-1815)Ccc>Tcc	p.P605S	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.P605S|ARHGAP6_uc004cum.1_Missense_Mutation_p.P402S|ARHGAP6_uc004cun.1_Missense_Mutation_p.P425S|ARHGAP6_uc010neb.1_Missense_Mutation_p.P427S|ARHGAP6_uc011mif.1_Missense_Mutation_p.P402S	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	605					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						AGATCTGGGGGAACCTGAAGG	0.448000														27			8		0	0	0.003080	0	0
PTK7	5754	broad.mit.edu	37	6	43107157	43107157	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:43107157C>T	uc011dve.1	+	9	1578	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	PTK7_uc003oub.1_Silent_p.F504F|PTK7_uc003ouc.1_Silent_p.F504F|PTK7_uc003oud.1_Intron|PTK7_uc003oue.1_Intron|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	504	Ig-like C2-type 6.				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	p.Q512H(1)		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)			AGCTCAAGTTCACACCACCAC	0.592000														35			15		0	0	0.003163	0	0
DNAH7	56171	broad.mit.edu	37	2	196825381	196825381	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:196825381C>T	uc002utj.4	-	17	2595	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	832	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						TTGAAATCTTCCACCTTTGAT	0.413000														53			27		0	0	0.005443	0	0
C12orf12	196477	broad.mit.edu	37	12	91348214	91348214	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:91348214G>A	uc001tbj.3	-	0	740	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	102										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						CCGGGCAGGGGAATTTCCAGA	0.642000														16			10		0	0	0.008291	0	0
CLCN6	1185	broad.mit.edu	37	1	11897473	11897474	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:11897473_11897474CC>TT	uc001ate.4	+	19	2325_2326	c.2212_2213CC>TT	c.(2212-2214)cct>TTt	p.P738F	CLCN6_uc010oat.2_Missense_Mutation_p.P454F|CLCN6_uc010oau.2_Missense_Mutation_p.P716F|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.	738					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)		GCGGTTCCGCCCTCTGACCTTC	0.554000														38			29		0	0	0.004672	0	0
KRT36	8689	broad.mit.edu	37	17	39645872	39645872	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:39645872C>T	uc002hwt.3	-	0	245	c.245G>A	c.(244-246)gGc>gAc	p.G82D		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	82	Head.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GCAGAACCAGCCCCCGCTCCC	0.612000														77			31		0	0	0.002096	0	0
PPFIA2	8499	broad.mit.edu	37	12	81741409	81741409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:81741409G>A	uc001szo.2	-	17	2296	c.2135C>T	c.(2134-2136)tCg>tTg	p.S712L	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.S638L|PPFIA2_uc021rbh.1_Missense_Mutation_p.S613L|PPFIA2_uc021rbi.1_Missense_Mutation_p.S712L|PPFIA2_uc021rbj.1_Missense_Mutation_p.S712L|PPFIA2_uc021rbk.1_Missense_Mutation_p.S694L|PPFIA2_uc021rbl.1_Missense_Mutation_p.S712L|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.S279L|PPFIA2_uc021rbf.1_Intron	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.	638								p.S712L(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						ACTGGCCAGCGATGAAGCTGT	0.532000														106			50		0	0	0.003610	0	0
VARS2	57176	broad.mit.edu	37	6	30886611	30886611	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:30886611G>A	uc011dmz.2	+	10	1164	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E	VARS2_uc003nsc.2_Silent_p.E331E|VARS2_uc011dmx.2_Silent_p.E331E|VARS2_uc011dmy.2_Silent_p.E191E|VARS2_uc011dna.2_Silent_p.E331E|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_5'UTR|VARS2_uc010jsg.2_5'Flank	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	331					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						CAGATGCAGAGGTTGTGGTAG	0.512000														37			13		0	0	0.001855	0	0
SERINC2	347735	broad.mit.edu	37	1	31896635	31896635	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:31896635C>T	uc021okm.1	+	2	435	c.162C>T	c.(160-162)ttC>ttT	p.F54F	SERINC2_uc010ogg.2_Silent_p.F49F|SERINC2_uc009vtw.1_Silent_p.F45F|SERINC2_uc001bst.3_Silent_p.F45F|SERINC2_uc001bsu.3_5'UTR|SERINC2_uc010ogh.2_Silent_p.F49F	NM_001199038	NP_001185967	Q96SA4	SERC2_HUMAN	Homo sapiens serine incorporator 2 (SERINC2), transcript variant 4, mRNA.	45						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)		TCACGTTCTTCCTCTTCCTGG	0.667000														90			37		0	0	0.004878	0	0
KCTD19	146212	broad.mit.edu	37	16	67337091	67337091	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:67337091C>T	uc002esu.2	-	3	652	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	KCTD19_uc002est.2_5'UTR|KCTD19_uc010vjj.1_5'UTR	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	201						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.T200M(1)		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)		ATGAGGGCCACCGTCTCAGCC	0.612000														32			12		0	0	0.001855	0	0
KL	9365	broad.mit.edu	37	13	33635583	33635583	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:33635583C>T	uc001uus.3	+	3	2375	c.2367C>T	c.(2365-2367)ttC>ttT	p.F789F	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	789	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)		TTCCTTATTTCACTGAAGATG	0.413000														31			7		0	0	0.001984	0	0
OSM	5008	broad.mit.edu	37	22	30660378	30660378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:30660378C>T	uc003ahb.3	-	2	294	c.253G>A	c.(253-255)Gag>Aag	p.E85K		NM_020530	NP_065391	P13725	ONCM_HUMAN	Homo sapiens oncostatin M (OSM), mRNA.	85					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			CTCAGGGTCTCCTCACTGGGG	0.647000														31			15		0	0	0.004990	0	0
BRIP1	83990	broad.mit.edu	37	17	59761459	59761459	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:59761459A>C	uc002izk.2	-	19	3254	c.2948T>G	c.(2947-2949)aTt>aGt	p.I983S		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	983	Interaction with BRCA1.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GGAAATCACAATTTTTTCTGC	0.348000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks						25			15		0	0	0.002450	0	0
CDH23	64072	broad.mit.edu	37	10	73330619	73330619	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:73330619G>A	uc001jrx.4	+	7	1087	c.697G>A	c.(697-699)Gac>Aac	p.D233N	CDH23_uc001jrw.4_Missense_Mutation_p.D233N|CDH23_uc001jry.3_Missense_Mutation_p.D233N|CDH23_uc001jrz.3_Missense_Mutation_p.D233N|CDH23_uc021psl.1_Missense_Mutation_p.D233N|CDH23_uc009xql.3_Missense_Mutation_p.D233N	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	233	Cadherin 2.				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						CCAGGACATGGACCCCATCTT	0.537000											OREG0020254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			25		0	0	0.006320	0	0
MYC	4609	broad.mit.edu	37	8	128750945	128750945	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:128750945C>T	uc022bbe.1	+	1	1007	c.437C>T	c.(436-438)tCa>tTa	p.S146L	MYC_uc003ysh.1_Missense_Mutation_p.S146L|MYC_uc003ysi.3_Missense_Mutation_p.S161L			P01106	MYC_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA.	146					branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		AAGCTCGTCTCAGAGAAGCTG	0.622000		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		32			13		0	0	0.002450	0	0
CSMD2	114784	broad.mit.edu	37	1	34182076	34182076	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:34182076G>A	uc001bxm.1	-	19	3204	c.3027C>T	c.(3025-3027)ttC>ttT	p.F1009F	CSMD2_uc001bxn.1_Silent_p.F969F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	969	CUB 6.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTTCCAGGTGGAAGGTGTGGA	0.557000														24			6		0	0	0.001168	0	0
KIAA0408	9729	broad.mit.edu	37	6	127768625	127768625	+	Missense_Mutation	SNP	G	A	A	rs140703945		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:127768625G>A	uc011ebs.2	-	4	1175	c.839C>T	c.(838-840)tCg>tTg	p.S280L	KIAA0408_uc003qbc.3_Missense_Mutation_p.S280L|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_5'Flank|KIAA0408_uc003qbb.3_Missense_Mutation_p.S163L	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	280							protein binding	p.S279S(1)		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)		TTCAGAATCCGAGCTGGGAAA	0.423000														34			38		0	0	0.006999	0	0
GLRA2	2742	broad.mit.edu	37	X	14708900	14708900	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:14708900G>A	uc010neq.3	+	7	1759	c.999G>A	c.(997-999)ctG>ctA	p.L333L	GLRA2_uc004cwe.4_Silent_p.L333L|GLRA2_uc011mio.2_Silent_p.L244L|GLRA2_uc010nep.3_Silent_p.L333L|GLRA2_uc011mip.2_Silent_p.L311L	NM_002063	NP_002054	P23416	GLRA2_HUMAN	Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA.	333					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)	CTGCCTTACTGGAATACGCAG	0.502000														57			30		0	0	0.007291	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813679	100813679	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:100813679G>A	uc010svi.2	+	11	1825	c.1512G>A	c.(1510-1512)ggG>ggA	p.G504G	SLC17A8_uc009ztx.3_Silent_p.G454G	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.	504					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						TTGCTTCTGGGGAGAAACAGG	0.468000														53			22		0	0	0.003330	0	0
ZIC4	84107	broad.mit.edu	37	3	147113820	147113820	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:147113820G>A	uc011bno.2	-	2	843	c.657C>T	c.(655-657)gcC>gcT	p.A219A	ZIC4_uc003ewc.2_Silent_p.A99A|ZIC4_uc021xff.1_Silent_p.A207A|ZIC4_uc003ewd.2_Silent_p.A169A|ZIC4_uc021xfg.1_Intron	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	169						nucleus	DNA binding|zinc ion binding	p.E219Q(1)|p.A169A(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AAATGTGGTTGGCCTGTTCCG	0.602000														203			43		0	0	0.002852	0	0
RHAG	6005	broad.mit.edu	37	6	49604372	49604372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:49604372G>A	uc003ozk.4	-	0	216	c.154C>T	c.(154-156)Cct>Tct	p.P52S	RHAG_uc010jzl.3_Missense_Mutation_p.P52S|RHAG_uc010jzm.3_Missense_Mutation_p.P52S	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	52					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TACTCACGAGGATATAACTCA	0.368000														65			21		0	0	0.001882	0	0
ATP10B	23120	broad.mit.edu	37	5	160049476	160049476	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:160049476G>A	uc003lym.1	-	13	2584	c.1737C>T	c.(1735-1737)tcC>tcT	p.S579S	ATP10B_uc010jit.1_5'Flank|ATP10B_uc003lyn.3_Silent_p.S137S	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	579					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)			AATCAGCAATGGAGGAGGTGG	0.552000														29			14		0	0	0.001855	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682277	69682277	+	Silent	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:69682277A>G	uc003hee.3	+	0	565	c.540A>G	c.(538-540)gaA>gaG	p.E180E	UGT2B10_uc011cam.2_Intron	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	180					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						ACTCATTTGAAAGGCACAGTG	0.408000														73			26		0	0	0.004656	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587070	15587070	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:15587070G>A	uc002nbg.3	-	1	544	c.411C>T	c.(409-411)gtC>gtT	p.V137V	PGLYRP2_uc002nbf.4_Silent_p.V137V	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	137					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						GCAAATTTATGACCCTGCGCC	0.602000														58			32		0	0	0.009535	0	0
IL17B	27190	broad.mit.edu	37	5	148754032	148754032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:148754032G>A	uc003lqo.3	-	2	493	c.443C>T	c.(442-444)cCt>cTt	p.P148L		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	Homo sapiens interleukin 17B (IL17B), mRNA.	148					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGCGCACAGGAACCTGGCT	0.682000														47			23		0	0	0.003330	0	0
TF	7018	broad.mit.edu	37	3	133475778	133475778	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:133475778C>T	uc003epu.2	+	11	2523	c.795C>T	c.(793-795)gtC>gtT	p.V265V	TF_uc011blt.2_Silent_p.V138V|TF_uc003epw.2_Intron|TF_uc003epv.2_Silent_p.V265V	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	265	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)	TGGCCCAGGTCCCTTCTCATA	0.582000														99			27		0	0	0.005443	0	0
ACTL7A	10881	broad.mit.edu	37	9	111624689	111624689	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:111624689G>A	uc004bdj.1	+	0	87	c.87G>A	c.(85-87)caG>caA	p.Q29Q		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	Homo sapiens actin-like 7A (ACTL7A), mRNA.	29						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						AGGCCCTCCAGACTGCCTCTT	0.612000														42			16		0	0	0.006122	0	0
ERLIN2	11160	broad.mit.edu	37	8	37601891	37601891	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:37601891C>T	uc003xke.4	+	4	370	c.255C>T	c.(253-255)taC>taT	p.Y85Y	ERLIN2_uc003xkc.4_Silent_p.Y85Y|ERLIN2_uc003xkd.3_Silent_p.Y85Y|ERLIN2_uc003xkf.4_Silent_p.Y85Y|ERLIN2_uc003xkg.3_Silent_p.Y85Y	NM_007175	NP_009106	O94905	ERLN2_HUMAN	Homo sapiens ER lipid raft associated 2 (ERLIN2), transcript variant 1, mRNA.	85					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGATGATCTACTTTGACAGAA	0.507000														179			72		0	0	0.003610	0	0
THSD7A	221981	broad.mit.edu	37	7	11676051	11676051	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:11676051G>A	uc021zzo.1	-	1	980	c.728C>T	c.(727-729)tCc>tTc	p.S243F	THSD7A_uc021zzn.1_Missense_Mutation_p.S243F	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	243	TSP type-1 2.					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)		GCATGGACTGGATTGGCACAC	0.642000										HNSCC(18;0.044)				25			7		0	0	0.001984	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778766	31778766	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:31778766C>T	uc003nxh.3	-	1	1167	c.984G>A	c.(982-984)atG>atA	p.M328I	HSPA1L_uc010jte.3_Missense_Mutation_p.M328I|HSPA1L_uc021yuz.1_Missense_Mutation_p.M328I	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	328					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TAGCCTTATCCATCTTGGCAT	0.502000														441			202		0	0	0.003610	0	0
PREX2	80243	broad.mit.edu	37	8	69058566	69058566	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:69058566C>T	uc003xxv.1	+	33	4237	c.4210C>T	c.(4210-4212)Cat>Tat	p.H1404Y		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1404					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						GTTTAAAATTCATCCTGTTCT	0.318000														35			12		0	0	0.001855	0	0
TTN	7273	broad.mit.edu	37	2	179585312	179585312	+	Missense_Mutation	SNP	G	A	A	rs17452588	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179585312G>A	uc021vsy.1	-	76	19670	c.19445C>T	c.(19444-19446)tCg>tTg	p.S6482L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3143L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7409	Ig-like 46.						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)			GGGAGTTCCCGAAATTTCACA	0.383000														17			6		0	0	0.001168	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413978	22413978	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:22413978C>T	uc001yuf.3	+	0	517	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		TGGCCCAAACCAGCTGGACAA	0.512000														49			18		0	0	0.001882	0	0
SYT10	341359	broad.mit.edu	37	12	33532878	33532878	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:33532878G>A	uc001rll.1	-	5	1686	c.1389C>T	c.(1387-1389)gtC>gtT	p.V463V	SYT10_uc009zju.1_Silent_p.V273V	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	463	C2 2.					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)					ACACTCCTATGACCTCATTGT	0.423000														58			22		0	0	0.001882	0	0
HECW1	23072	broad.mit.edu	37	7	43484424	43484424	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:43484424G>A	uc003tid.1	+	10	2258	c.1653G>A	c.(1651-1653)ggG>ggA	p.G551G	HECW1_uc011kbi.1_Silent_p.G551G	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	551					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						CAGCCTGCGGGGACCCCGAGA	0.692000														51			22		0	0	0.002299	0	0
UNC79	57578	broad.mit.edu	37	14	94069764	94069764	+	Splice_Site	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:94069764C>T	uc001ybv.1	+	23	3306	c.3223_splice	c.e23+1	p.P1075_splice	UNC79_uc001ybs.1_Splice_Site_p.R1075_splice	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1252						integral to membrane		p.P1252S(1)|p.R1075*(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						CTCCAAAATTCGTTGAGTATC	0.473000														16			11		0	0	0.000978	0	0
FLG	2312	broad.mit.edu	37	1	152283121	152283121	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:152283121C>T	uc001ezu.1	-	2	4277	c.4241G>A	c.(4240-4242)gGa>gAa	p.G1414E	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1414	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H1413N(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)			CCCAGCTTGTCCGTGGGCTGA	0.567000									Ichthyosis					433			104		0	0	0.003610	0	0
NSUN7	79730	broad.mit.edu	37	4	40763260	40763260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:40763260C>T	uc003gvj.4	+	3	925	c.430C>T	c.(430-432)Ctt>Ttt	p.L144F	NSUN7_uc003gvh.2_Missense_Mutation_p.L144F|NSUN7_uc003gvi.4_Missense_Mutation_p.L144F	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						AACTCGTGTCCTTTCTGATAA	0.318000														64			33		0	0	0.004878	0	0
KIF21B	23046	broad.mit.edu	37	1	200969668	200969668	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:200969668C>T	uc001gvs.2	-	10	1852	c.1535G>A	c.(1534-1536)aGg>aAg	p.R512K	KIF21B_uc009wzl.2_Missense_Mutation_p.R512K|KIF21B_uc001gvr.2_Missense_Mutation_p.R512K|KIF21B_uc010ppn.2_Missense_Mutation_p.R512K	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	512					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						GTAGGGGCTCCTAGCCGAGGC	0.667000														115			23		0	0	0.005443	0	0
THSD4	79875	broad.mit.edu	37	15	72020948	72020948	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:72020948G>A	uc002atb.1	+	7	1497	c.1418G>A	c.(1417-1419)gGa>gAa	p.G473E	THSD4_uc002atd.1_Missense_Mutation_p.G147E|THSD4_uc010ukg.1_Missense_Mutation_p.G113E|THSD4_uc002ate.2_Missense_Mutation_p.G113E	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	473						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						GATCGACCAGGAAAATACGAG	0.522000														93			35		0	0	0.003271	0	0
TCRBV12S2	0	broad.mit.edu	37	7	142231673	142231673	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142231673C>T	uc003vyh.2	-	1	342	c.244G>A	c.(244-246)Ggc>Agc	p.G82S	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|TCRBV12S2_uc022anm.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		ACACTGTAGCCATCTGAGACT	0.498000														189			37		0	0	0.004878	0	0
C5orf25	375484	broad.mit.edu	37	5	175722211	175722211	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:175722211C>A	uc003mds.4	+	4	1960	c.1553C>A	c.(1552-1554)tCt>tAt	p.S518Y	C5orf25_uc003mdr.3_Non-coding_Transcript|C5orf25_uc003mdt.4_Missense_Mutation_p.S103Y|C5orf25_uc011dfk.1_Missense_Mutation_p.S537Y			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	518												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)		CTCAGTGGCTCTGAGACTGTG	0.473000														46			10		3.86212e-05	3.8972e-05	0.008291	1	0
POLN	353497	broad.mit.edu	37	4	2083449	2083449	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:2083449C>T	uc003ger.2	-	19	2231	c.2219G>A	c.(2218-2220)gGc>gAc	p.G740D	POLN_uc010icg.1_Missense_Mutation_p.G188D|POLN_uc010ich.1_Missense_Mutation_p.G272D	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	Homo sapiens polymerase (DNA directed) nu (POLN), mRNA.	740					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)			TCTCCTTCTGCCCATGATGGA	0.582000								DNA polymerases (catalytic subunits)						28			6		0	0	0.001168	0	0
SERPINA13	388007	broad.mit.edu	37	14	95108045	95108045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:95108045C>T	uc001ydt.3	+	1	650	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S						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						TGGGCAGGGTCCCCGGCTCCT	0.632000														73			26		0	0	0.004656	0	0
KCNK1	3775	broad.mit.edu	37	1	233807252	233807252	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:233807252C>T	uc010pxo.1	+	2	1155	c.987C>T	c.(985-987)tgC>tgT	p.C329C		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	329						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)	CATCTGCCTGCGTGGATGGCC	0.498000														86			18		0	0	0.007413	0	0
ENTPD7	57089	broad.mit.edu	37	10	101464379	101464379	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:101464379C>T	uc009xwl.3	+	13	2115	c.1760C>T	c.(1759-1761)cCa>cTa	p.P587L	ENTPD7_uc001kqa.4_Missense_Mutation_p.P585L	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 7 (ENTPD7), mRNA.	585						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)		GCCTCAGCTCCATTGGACTTG	0.562000														27			7		0	0	0.003080	0	0
ANKRD27	84079	broad.mit.edu	37	19	33089106	33089106	+	Missense_Mutation	SNP	G	A	A	rs150349860		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:33089106G>A	uc002ntn.1	-	28	3254	c.3098C>T	c.(3097-3099)cCg>cTg	p.P1033L		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA.	1033					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AGCAGCCTCCGGGCCCTGGGA	0.617000														54			32		0	0	0.002836	0	0
SORL1	6653	broad.mit.edu	37	11	121348826	121348826	+	Splice_Site	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:121348826G>A	uc001pxx.3	+	3	532	c.403_splice	c.e3-1	p.V135_splice		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	135					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)		CTGTATTCCAGGTGTACGTGT	0.353000														22			23		0	0	0.005443	0	0
ASIC4	55515	broad.mit.edu	37	2	220396587	220396587	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:220396587C>T	uc002vlz.3	+	1	1245	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	ASIC4_uc010fwi.2_Silent_p.I357I|ASIC4_uc010fwj.2_Silent_p.I357I|ASIC4_uc002vly.2_Silent_p.I357I|ASIC4_uc002vma.3_Silent_p.I357I|ASIC4_uc002vmb.3_Silent_p.I11I	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.	357						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										TGCTGGACATCCAGCAGGAGG	0.662000														90			47		0	0	0.003610	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123165272	123165272	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:123165272G>A	uc004bkf.3	-	33	5300	c.5119C>T	c.(5119-5121)Ccg>Tcg	p.P1707S	CDK5RAP2_uc010mvi.3_Missense_Mutation_p.P716S|CDK5RAP2_uc004bke.3_Missense_Mutation_p.P992S|CDK5RAP2_uc004bkg.3_Missense_Mutation_p.P1628S|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.P972S|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.P972S|CDK5RAP2_uc011lya.2_Missense_Mutation_p.P972S|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.P1477S	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	1707					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	p.P1707S(2)		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						GACACACACGGAGTGCTAGTT	0.567000														54			31		0	0	0.004289	0	0
COL5A1	1289	broad.mit.edu	37	9	137676936	137676936	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:137676936G>A	uc004cfe.3	+	29	2968	c.2586G>A	c.(2584-2586)ggG>ggA	p.G862G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	862	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)		GACCCCCTGGGGAGAAGGTTT	0.657000														34			11		0	0	0.000978	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107044	107044	+	RNA	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrGL000211.1:107044T>C	uc003boa.3	+	3		c.743T>C								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		ACAAAGAAAATAGAACGCCTT	0.358000														254			7		0	0	0.001984	0	0
NOS1	4842	broad.mit.edu	37	12	117768438	117768438	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:117768438G>A	uc001twn.2	-	1	1148	c.437C>T	c.(436-438)cCc>cTc	p.P146L	NOS1_uc001twm.2_Missense_Mutation_p.P146L	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	146	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			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)	CACTGCCAGGGGCTGTTCTTT	0.682000														65			27		0	0	0.005443	0	0
AVPR1B	553	broad.mit.edu	37	1	206230971	206230971	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:206230971C>T	uc001hds.2	+	1	1262	c.1104C>T	c.(1102-1104)tcC>tcT	p.S368S		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	368					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)	GGCGGCTCTCCGACGGCAGCC	0.697000														13			16		0	0	0.004990	0	0
RTBDN	83546	broad.mit.edu	37	19	12936681	12936681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:12936681C>T	uc002mvj.3	-	6	943	c.625G>A	c.(625-627)Gga>Aga	p.G209R	RTBDN_uc002mvh.1_3'UTR|RTBDN_uc002mvi.3_Missense_Mutation_p.G177R|RTBDN_uc021upo.1_Missense_Mutation_p.G187R	NM_031429	NP_001074466	Q9BSG5	RTBDN_HUMAN	Homo sapiens retbindin (RTBDN), transcript variant 2, mRNA.	177						extracellular region				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						TGACGGGCTCCAGGAGCAGCC	0.662000											OREG0025275	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			7		0	0	0.003080	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189737	58189737	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:58189737G>A	uc002qpu.3	+	4	1463	c.766G>A	c.(766-768)Ggg>Agg	p.G256R		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	256					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)		ATCTCAGGAAGGGTCCATAAA	0.512000														45			10		0	0	0.008291	0	0
SERTAD2	9792	broad.mit.edu	37	2	64863943	64863943	+	Silent	SNP	G	A	A	rs78389198	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	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														67			32		0	0	0.003271	0	0
LCT	3938	broad.mit.edu	37	2	136567491	136567491	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:136567491G>A	uc002tuu.1	-	7	2437	c.2426C>T	c.(2425-2427)tCt>tTt	p.S809F		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	809	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)		GCTGTAACCAGAAGGGCCTTC	0.458000														71			20		0	0	0.008871	0	0
DYSF	8291	broad.mit.edu	37	2	71895908	71895908	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:71895908C>T	uc010fen.3	+	48	5623	c.5482C>T	c.(5482-5484)Cta>Tta	p.L1828L	DYSF_uc010fei.3_Silent_p.L1806L|DYSF_uc010feh.3_Silent_p.L1796L|DYSF_uc002sig.4_Silent_p.L1775L|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.L1820L|DYSF_uc010fee.3_Silent_p.L1810L|DYSF_uc010fef.3_Silent_p.L1827L|DYSF_uc002sie.3_Silent_p.L1789L|DYSF_uc010feo.3_Silent_p.L1821L|DYSF_uc010fej.3_Silent_p.L1797L|DYSF_uc010fel.3_Silent_p.L1776L|DYSF_uc010fem.3_Silent_p.L1811L|DYSF_uc002sif.3_Silent_p.L1790L|DYSF_uc010fek.3_Silent_p.L1807L|DYSF_uc010yqy.2_Silent_p.L670L|DYSF_uc010yqz.2_Silent_p.L550L	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1789						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						GTGGGTCGACCTATTTCCGAA	0.612000														21			12		0	0	0.001368	0	0
SOX30	11063	broad.mit.edu	37	5	157078397	157078397	+	Silent	SNP	G	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:157078397G>C	uc003lxb.1	-	0	1032	c.690C>G	c.(688-690)ccC>ccG	p.P230P	SOX30_uc003lxc.1_Silent_p.P230P|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	230					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)			CATTGGACGCGGGCTCCGCGC	0.642000														74			20		0	0	0.008871	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461681	50461681	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:50461681C>T	uc010ybh.2	-	7	1601	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	SIGLEC11_uc010ybi.2_Intron	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	504					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGGGTGACCTCGAAGGAGCCC	0.692000														33			9		0	0	0.006214	0	0
RP1	6101	broad.mit.edu	37	8	55539605	55539605	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:55539605G>A	uc003xsd.1	+	3	3311	c.3163G>A	c.(3163-3165)Gaa>Aaa	p.E1055K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1055					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)			TGTTTACCAGGAAATAAACCT	0.378000														64			34		0	0	0.002445	0	0
KCND1	3750	broad.mit.edu	37	X	48819939	48819939	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:48819939G>A	uc004dlx.1	-	5	3420	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F	KCND1_uc004dlw.1_Missense_Mutation_p.S239F	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.	616						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						GCCGCCAGGGGAGGAAGGTTG	0.632000														18			8		0	0	0.004482	0	0
PTPN12	5782	broad.mit.edu	37	7	77256824	77256824	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:77256824G>T	uc003ugh.2	+	12	1919	c.1828G>T	c.(1828-1830)Gaa>Taa	p.E610*	PTPN12_uc011kgp.1_Nonsense_Mutation_p.E491*|PTPN12_uc011kgq.1_Nonsense_Mutation_p.E480*|PTPN12_uc010lds.2_Nonsense_Mutation_p.E342*	NM_002835	NP_002826	Q05209	PTN12_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 12 (PTPN12), transcript variant 1, mRNA.	610						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						AGACTCAGATGAAAGAAACTC	0.413000														69			20		1.00905e-13	1.03152e-13	0.008871	1	0
VCAN	1462	broad.mit.edu	37	5	82868369	82868369	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:82868369G>A	uc003kii.3	+	12	10226	c.9870G>A	c.(9868-9870)aaG>aaA	p.K3290K	VCAN_uc003kij.3_Silent_p.K2303K|VCAN_uc010jau.2_Silent_p.K1536K|VCAN_uc003kik.3_Silent_p.K549K|VCAN_uc003kil.3_Silent_p.K1954K	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	3290	C-type lectin.				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)		ATACGTGCAAGAAAGGAACAG	0.363000														38			16		0	0	0.003163	0	0
SYT10	341359	broad.mit.edu	37	12	33560282	33560282	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:33560282G>A	uc001rll.1	-	2	816	c.519C>T	c.(517-519)tcC>tcT	p.S173S	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	173						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)					GTCTTCGGAAGGAACTGTGGC	0.438000														53			22		0	0	0.002780	0	0
CCDC83	220047	broad.mit.edu	37	11	85606383	85606383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:85606383G>A	uc001pbg.1	+	5	1071	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	CCDC83_uc001pbh.1_Missense_Mutation_p.E187K|CCDC83_uc001pbj.1_Missense_Mutation_p.E88K|CCDC83_uc001pbi.1_Non-coding_Transcript	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA.	187										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AATAATCAAGGAAACTTTGTT	0.274000														16			14		0	0	0.004007	0	0
SEL1L2	80343	broad.mit.edu	37	20	13830908	13830908	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:13830908G>A	uc010gcf.3	-	18	1958	c.1876C>T	c.(1876-1878)Cac>Tac	p.H626Y	SEL1L2_uc002woq.4_Missense_Mutation_p.H487Y|SEL1L2_uc010zrl.2_Missense_Mutation_p.H513Y|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.	626						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						ACAGGTATGTGGGCATCTGGA	0.463000														45			20		0	0	0.001882	0	0
MDGA2	161357	broad.mit.edu	37	14	47426821	47426821	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:47426821G>A	uc001wwj.4	-	8	2003	c.1845C>T	c.(1843-1845)ttC>ttT	p.F615F	MDGA2_uc001wwi.4_Silent_p.F317F|MDGA2_uc010ani.3_Silent_p.F106F|SNORA25_uc021rsl.1_5'Flank	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	546	Ig-like 6.				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						GGATTTCCAAGAATGCTGGTT	0.453000														49			15		0	0	0.006122	0	0
BC128131	0	broad.mit.edu	37	19	23159561	23159561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:23159561C>T	uc002nqz.1	-	1	412	c.386G>A	c.(385-387)aGa>aAa	p.R129K	BC128131_uc002nqy.1_Non-coding_Transcript					Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371).																		AGTATAAATTCTTTTATGTTG	0.333000														21			8		0	0	0.004482	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912666	77912666	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:77912666C>T	uc022bzi.1	-	0	1252	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	ZCCHC5_uc004edc.1_Missense_Mutation_p.E418K	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	418							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGTTGGTTTTCAGCTGGTGGA	0.522000														63			30		0	0	0.009535	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68708278	68708278	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:68708278C>T	uc003hdq.3	-	3	380	c.315G>A	c.(313-315)ctG>ctA	p.L105L	LOC550112_uc003hdl.4_Intron|TMPRSS11D_uc011caj.2_5'UTR	NM_004262	NP_004253	O60235	TM11D_HUMAN	Homo sapiens transmembrane protease, serine 11D (TMPRSS11D), mRNA.	105	SEA.				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						CCACTCACCTCAGTTTGGCAA	0.328000														30			11		0	0	0.001368	0	0
PKD1	5310	broad.mit.edu	37	16	2169146	2169146	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:2169146T>A	uc002cos.1	-	2	537	c.328A>T	c.(328-330)Ata>Tta	p.I110L	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.I110L	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	110					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						TTAGCAAATATTCCTTCTTCT	0.478000														9			4		0	0	0.009096	0	0
CALN1	83698	broad.mit.edu	37	7	71488686	71488686	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:71488686G>A	uc003twb.4	-	4	848	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	CALN1_uc003twa.4_Missense_Mutation_p.R111C|CALN1_uc003twc.4_Missense_Mutation_p.R111C	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	111						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				AAACCATCGCGACCTTCTGAA	0.418000														77			27		0	0	0.008361	0	0
OTOF	9381	broad.mit.edu	37	2	26693463	26693463	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:26693463C>T	uc002rhk.3	-	31	4148	c.4021G>A	c.(4021-4023)Gag>Aag	p.E1341K	OTOF_uc010yla.2_Missense_Mutation_p.E71K|OTOF_uc002rhh.3_Missense_Mutation_p.E574K|OTOF_uc002rhi.3_Missense_Mutation_p.E651K|OTOF_uc002rhj.3_Missense_Mutation_p.E574K	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1341					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)					GGTCTCACCTCCTTCATGGTG	0.602000														80			52		0	0	0.003610	0	0
SLC26A9	115019	broad.mit.edu	37	1	205884511	205884511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:205884511G>A	uc001hdp.3	-	20	2464	c.2350C>T	c.(2350-2352)Cac>Tac	p.H784Y	SLC26A9_uc001hdm.3_5'UTR|SLC26A9_uc001hdn.3_5'UTR|SLC26A9_uc001hdo.3_Missense_Mutation_p.H452Y|SLC26A9_uc001hdq.3_Missense_Mutation_p.H784Y	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	784						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GTCTCTGCGTGAAACATGCTC	0.582000														92			60		0	0	0.003610	0	0
FAM113B	91523	broad.mit.edu	37	12	47629749	47629749	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:47629749C>T	uc001rpq.3	+	1	1428	c.903C>T	c.(901-903)ccC>ccT	p.P301P	FAM113B_uc001rpn.3_Silent_p.P301P|FAM113B_uc021qxi.1_Silent_p.P301P	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	301	Pro-rich.						hydrolase activity	p.P301H(1)		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)					cataccgccccctgcttgggt	0.647000														29			10		0	0	0.006214	0	0
MMP27	64066	broad.mit.edu	37	11	102573610	102573610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:102573610G>A	uc001phd.1	-	3	516	c.493C>T	c.(493-495)Cat>Tat	p.H165Y		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	165					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CACCGACCATGGACTGAGATA	0.473000														32			14		0	0	0.001855	0	0
RBP3	5949	broad.mit.edu	37	10	48385879	48385879	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:48385879G>A	uc001jez.3	-	1	3327	c.3213C>T	c.(3211-3213)atC>atT	p.I1071I		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	1071	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)	CCGTGTGCATGATCTTCTTCC	0.562000														82			33		0	0	0.003755	0	0
SLC25A31	83447	broad.mit.edu	37	4	128651756	128651756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:128651756C>T	uc003ifl.3	+	0	202	c.56C>T	c.(55-57)tCc>tTc	p.S19F		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.	19					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						GACGCCTCATCCTTCGGGAAG	0.582000														59			21		0	0	0.003330	0	0
KCNV1	27012	broad.mit.edu	37	8	110980738	110980738	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:110980738G>A	uc003ynr.4	-	2	1886	c.1082C>T	c.(1081-1083)tCa>tTa	p.S361L	KCNV1_uc010mcw.3_Missense_Mutation_p.S361L	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	361						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TTCTACAGTTGAAAATATAGA	0.478000														40			15		0	0	0.002450	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49963007	49963007	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:49963007T>C	uc002pnt.3	+	3	517	c.401T>C	c.(400-402)gTt>gCt	p.V134A	ALDH16A1_uc010yar.2_Missense_Mutation_p.V134A|ALDH16A1_uc010yas.2_5'UTR|ALDH16A1_uc010yat.2_Intron	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA.	134							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)		GTTCGAGAGGTTCGAGACGGG	0.647000														37			13		0	0	0.001855	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	72004	72004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrGL000209.1:72004C>T	uc002qui.2	+	2	165	c.154C>T	c.(154-156)Cgt>Tgt	p.R52C	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Missense_Mutation_p.R49C|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evg.1_Intron|KIR2DL2_uc010evh.1_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001083539	NP_001077008	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA.	52	Ig-like C2-type 1.				regulation of immune response	integral to membrane|plasma membrane	receptor activity										GTGTCACTATCGTCATAGGTT	0.537000														22			36		0	0	0.004289	0	0
THBS2	7058	broad.mit.edu	37	6	169648878	169648878	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:169648878C>T	uc003qwt.3	-	3	491	c.243G>A	c.(241-243)aaG>aaA	p.K81K		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	81	Heparin-binding (Potential).|TSP N-terminal.				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)		AGAAGCCCTCCTTCTGCCGCA	0.632000														28			21		0	0	0.010504	0	0
VRTN	55237	broad.mit.edu	37	14	74824771	74824771	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:74824771C>T	uc021rwl.1	+	0	1285	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S	VRTN_uc001xpw.4_Missense_Mutation_p.P429S	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	429					transposition, DNA-mediated		DNA binding|transposase activity			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						ACGCAGGTTCCCTGGCATCTC	0.572000														65			32		0	0	0.003271	0	0
ZAN	7455	broad.mit.edu	37	7	100361455	100361455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:100361455C>T	uc003uwj.3	+	20	4178	c.4013C>T	c.(4012-4014)tCc>tTc	p.S1338F	ZAN_uc003uwk.3_Missense_Mutation_p.S1338F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Intron	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1338	VWFD 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)			GTGGTGAATTCCCCGTCTTGT	0.557000														100			35		0	0	0.004878	0	0
BMPER	168667	broad.mit.edu	37	7	34118718	34118718	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:34118718C>T	uc011kap.2	+	12	1702	c.1328C>T	c.(1327-1329)tCg>tTg	p.S443L		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	443	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						TGGAACGGCTCGCGCATCGCG	0.667000														46			17		0	0	0.004656	0	0
SLC6A4	6532	broad.mit.edu	37	17	28539843	28539843	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:28539843G>A	uc002hey.4	-	8	1663	c.1119C>T	c.(1117-1119)ttC>ttT	p.F373F	SLC6A4_uc010csg.3_5'Flank	NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	373					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)	ATCCCGAAACGAAGCTCGTCA	0.547000														36			19		0	0	0.006122	0	0
OR51B6	390058	broad.mit.edu	37	11	5373625	5373625	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:5373625G>A	uc010qzb.2	+	0	888	c.888G>A	c.(886-888)caG>caA	p.Q296Q	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAACTAAGCAGATTCAGAGTG	0.418000														33			20		0	0	0.002299	0	0
NR1I2	8856	broad.mit.edu	37	3	119528944	119528944	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:119528944C>T	uc003edj.3	+	2	2073	c.234C>T	c.(232-234)ccC>ccT	p.P78P	NR1I2_uc003edi.3_Silent_p.P78P|NR1I2_uc003edk.3_Silent_p.P117P|NR1I2_uc003edl.3_5'Flank	NM_003889	NP_003880	O75469	NR1I2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 2 (NR1I2), transcript variant 1, mRNA.	78					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)	TGAGGTGCCCCTTCCGGAAGG	0.692000														39			17		0	0	0.006122	0	0
PSG9	5678	broad.mit.edu	37	19	43762387	43762387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:43762387C>T	uc002owd.4	-	4	1309	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	PSG9_uc002owe.4_Missense_Mutation_p.E311K|PSG9_uc010xwm.2_Missense_Mutation_p.E311K|PSG9_uc002owf.4_Missense_Mutation_p.E218K|PSG9_uc002owg.2_Missense_Mutation_p.E311K	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	404	Ig-like C2-type 3.				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)				TTGGAGATTTCCTTGCCAGTG	0.448000														162			59		0	0	0.003610	0	0
TRHR	7201	broad.mit.edu	37	8	110100160	110100160	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:110100160C>T	uc003ymz.4	+	0	508	c.419C>T	c.(418-420)tCc>tTc	p.S140F		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	140						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)			TGCACATTTTCCAGAGCCAAA	0.403000														51			19		0	0	0.007413	0	0
SRGAP3	9901	broad.mit.edu	37	3	9074387	9074387	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:9074387G>A	uc003brf.1	-	11	2162	c.1486C>T	c.(1486-1488)Ctc>Ttc	p.L496F	SRGAP3_uc003brg.1_Intron|SRGAP3_uc003bri.1_Non-coding_Transcript	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	496	Rho-GAP.				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)		TACACTGAGAGAGGCCTAGGT	0.468000			T	RAF1	pilocytic astrocytoma									50			30		0	0	0.002096	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24249837	24249837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:24249837C>T	uc003xdz.2	+	1	371	c.151C>T	c.(151-153)Cac>Tac	p.H51Y	ADAMDEC1_uc010lub.2_5'UTR|ADAMDEC1_uc011lab.1_Intron	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	51					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)		TAAAAAACTTCACATTTTACA	0.343000														27			10		0	0	0.008291	0	0
C6	729	broad.mit.edu	37	5	41176678	41176678	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:41176678C>T	uc003jmk.2	-	7	1277	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	C6_uc003jml.1_Missense_Mutation_p.R356Q|RN7SK_uc021xxu.1_5'Flank	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	356	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)				ATCGAATATTCGGCTGTACAA	0.423000														21			24		0	0	0.003954	0	0
RCL1	10171	broad.mit.edu	37	9	4844531	4844532	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:4844531_4844532GG>AA	uc003zis.2	+	6	975_976	c.717_718GG>AA	c.(715-720)ccgggc>ccAAgc	p.G240S	RCL1_uc010mhl.1_Missense_Mutation_p.G54S	NM_005772	NP_005763	Q9Y2P8	RCL1_HUMAN	Homo sapiens RNA terminal phosphate cyclase-like 1 (RCL1), mRNA.	240					RNA processing|ribosome biogenesis	nucleolus	RNA-3'-phosphate cyclase activity	p.G240C(2)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		CCAGGTCTCCGGGCTTTGGGTT	0.515000														75			23		0	0	0.004672	0	0
CPLX4	339302	broad.mit.edu	37	18	56985621	56985621	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:56985621T>A	uc002lhy.3	-	0	261	c.74A>T	c.(73-75)aAt>aTt	p.N25I		NM_181654	NP_857637	Q7Z7G2	CPLX4_HUMAN	Homo sapiens complexin 4 (CPLX4), mRNA.	25					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			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)				TTCTTCTTTATTTTCTTCAGA	0.398000														56			12		0	0	0.001855	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325428	150325428	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:150325428C>T	uc022apv.1	-	2	948	c.468G>A	c.(466-468)tgG>tgA	p.W156*	GIMAP6_uc003whn.3_Nonsense_Mutation_p.W86*|GIMAP6_uc003whm.3_Intron	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	86							GTP binding	p.L155L(1)|p.W86C(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTTCCCAGCCCACTCTCGGC	0.582000														188			43		0	0	0.008740	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713629	30713629	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:30713629G>A	uc003ceo.3	+	3	1336	c.954G>A	c.(952-954)ggG>ggA	p.G318G	TGFBR2_uc021wut.1_Silent_p.G196G|TGFBR2_uc003cen.3_Silent_p.G343G	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	318	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						CGGAGTTGGGGAAACAATACT	0.552000														39			21		0	0	0.001882	0	0
ZNF679	168417	broad.mit.edu	37	7	63720662	63720662	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:63720662C>T	uc003tsx.3	+	2	372	c.103C>T	c.(103-105)Cac>Tac	p.H35Y		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	35	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						ATGCCTGGATCACGCTCAGCA	0.383000														72			32		0	0	0.004878	0	0
ZNF37BP	100129482	broad.mit.edu	37	10	43016349	43016349	+	RNA	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:43016349G>A	uc001jab.4	-	4		c.2851C>T			ZNF37BP_uc001jac.4_Non-coding_Transcript|ZNF37BP_uc001jaa.4_Non-coding_Transcript					Homo sapiens zinc finger protein 37B, pseudogene (ZNF37BP), non-coding RNA.																		GAATTCTCAGGGAAAGCTTTC	0.373000														27			11		0	0	0.000978	0	0
ALK	238	broad.mit.edu	37	2	29498005	29498005	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:29498005C>T	uc002rmy.3	-	10	2953	c.2001G>A	c.(1999-2001)ggG>ggA	p.G667G		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	667					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.P666P(2)|p.P666L(1)	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)	GTGAATTTTCCCCGGGTTTCA	0.458000			"""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					49			22		0	0	0.002299	0	0
GPHN	10243	broad.mit.edu	37	14	67579811	67579811	+	Missense_Mutation	SNP	C	T	T	rs138042556		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:67579811C>T	uc001xiy.3	+	14	2571	c.1450C>T	c.(1450-1452)Ctt>Ttt	p.L484F	GPHN_uc001xix.3_Missense_Mutation_p.L517F|GPHN_uc010tss.2_Missense_Mutation_p.L530F|GPHN_uc010tst.2_Missense_Mutation_p.L453F|GPHN_uc010tsu.2_Missense_Mutation_p.L407F	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	484	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AGAGATTGGTCTTCTGGCAAC	0.443000			T	MLL	AL									28			14		0	0	0.003163	0	0
ESCO2	157570	broad.mit.edu	37	8	27634208	27634208	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:27634208G>A	uc003xgg.3	+	2	466	c.383G>A	c.(382-384)gGa>gAa	p.G128E	ESCO2_uc010luy.1_Non-coding_Transcript|ESCO2_uc003xgh.3_Missense_Mutation_p.G128E	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2), mRNA.	128					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	p.G128R(1)		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)		AAAATGCAAGGAAAACCAGTC	0.353000									SC Phocomelia syndrome					20			12		0	0	0.002450	0	0
MPP7	143098	broad.mit.edu	37	10	28358748	28358748	+	Missense_Mutation	SNP	C	T	T	rs147738330		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:28358748C>T	uc001iua.1	-	14	1561	c.1157G>A	c.(1156-1158)cGa>cAa	p.R386Q	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.R386Q|MPP7_uc009xla.2_Missense_Mutation_p.R386Q|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.	386	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						CAGCAGCTTTCGTTTCAGTTC	0.438000														25			12		0	0	0.001855	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90673100	90673100	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:90673100C>T	uc001kfk.3	+	5	1086	c.663C>T	c.(661-663)tcC>tcT	p.S221S	STAMBPL1_uc010qmx.1_Silent_p.S221S|STAMBPL1_uc009xto.3_Non-coding_Transcript|STAMBPL1_uc001kfl.3_Silent_p.S221S|STAMBPL1_uc001kfn.3_Silent_p.S55S	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA.	221							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)		AGAACAATTCCTTGCTGAATG	0.478000														59			20		0	0	0.010504	0	0
FAM5C	339479	broad.mit.edu	37	1	190067969	190067969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:190067969C>T	uc001gse.1	-	7	1712	c.1480G>A	c.(1480-1482)Gat>Aat	p.D494N	FAM5C_uc010pot.1_Missense_Mutation_p.D392N	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	494						extracellular region				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)					ATCTCGAGATCTTGCAGGTCA	0.502000														74			48		0	0	0.003610	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291305	141291305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:141291305C>T	uc022cfj.1	-	0	469	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	MAGEC2_uc004fbu.2_Missense_Mutation_p.E157K	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	157	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTGCTTCGTATTTGAGG	0.478000										HNSCC(46;0.14)				151			60		0	0	0.003610	0	0
CLCN5	1184	broad.mit.edu	37	X	49855482	49855482	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:49855482G>A	uc004dos.1	+	10	2337	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K	CLCN5_uc004dor.1_Missense_Mutation_p.E767K|CLCN5_uc004doq.1_Missense_Mutation_p.E767K|CLCN5_uc004dot.1_Missense_Mutation_p.E697K	NM_000084	NP_000075	P51795	CLCN5_HUMAN	Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA.	697	CBS 2.				excretion	Golgi membrane|apical part of cell|endosome membrane|integral to plasma membrane	ATP binding|antiporter activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TACACCCATGGAGATCGTAGT	0.502000														43			16		0	0	0.007413	0	0
PPP1R2P3	153743	broad.mit.edu	37	5	156278072	156278072	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:156278072G>A	uc003lwf.1	+	0	524	c.499G>A	c.(499-501)Gat>Aat	p.D167N						Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3 (PPP1R2P3), non-coding RNA.																		AGACCTACATGATGATGATGA	0.363000														65			24		0	0	0.002299	0	0
CHST2	9435	broad.mit.edu	37	3	142840619	142840619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:142840619C>T	uc003evm.3	+	1	1900	c.961C>T	c.(961-963)Ccg>Tcg	p.P321S	CHST2_uc021xex.1_Missense_Mutation_p.P321S	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	321					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						GCTGCGAGACCCGGCCCTGGA	0.652000														14			5		0	0	0.000602	0	0
ATP2C2	9914	broad.mit.edu	37	16	84486808	84486808	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:84486808G>A	uc010chj.3	+	18	1985	c.1896G>A	c.(1894-1896)gtG>gtA	p.V632V	ATP2C2_uc002fhx.3_Silent_p.V632V|ATP2C2_uc002fhy.3_Silent_p.V649V|ATP2C2_uc002fhz.3_Silent_p.V481V	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	632					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						TGGACAGCGTGGAGAAGGGCG	0.612000														36			21		0	0	0.010504	0	0
GJB5	2709	broad.mit.edu	37	1	35223641	35223641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:35223641C>T	uc001bxu.3	+	1	810	c.710C>T	c.(709-711)tCc>tTc	p.S237F	GJB5_uc021okz.1_Missense_Mutation_p.S237F|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	237					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				ACCACCTCTTCCTGCAAACAA	0.557000														37			19		0	0	0.010504	0	0
CECR5	27440	broad.mit.edu	37	22	17619575	17619575	+	Missense_Mutation	SNP	G	A	A	rs140503307		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:17619575G>A	uc002zmf.3	-	6	828	c.800C>T	c.(799-801)aCg>aTg	p.T267M	CECR5_uc002zmh.3_Missense_Mutation_p.T237M	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 5 (CECR5), transcript variant 2, mRNA.	267							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)				CTCCTTGCCCGTCACTTTCTG	0.577000														143			54		0	0	0.003610	0	0
LILRB5	10990	broad.mit.edu	37	19	54759940	54759940	+	Silent	SNP	C	T	T	rs144716655		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:54759940C>T	uc010yer.1	-	3	705	c.594G>A	c.(592-594)tcG>tcA	p.S198S	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Silent_p.S207S|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Silent_p.S207S|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Non-coding_Transcript			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	207	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)		CACTGGGGTTCGACCACACCT	0.522000														66			38		0	0	0.006999	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820547	35820547	+	Silent	SNP	C	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:35820547C>A	uc010ngt.1	+	1	513	c.234C>A	c.(232-234)acC>acA	p.T78T	MAGEB16_uc022bus.1_Silent_p.T78T	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	78										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TCACAACCACCTCATCAAGTG	0.512000														22			6		1.06961e-07	1.08243e-07	0.003080	1	0
GAD2	2572	broad.mit.edu	37	10	26575315	26575315	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:26575315C>T	uc001isp.2	+	12	1781	c.1278C>T	c.(1276-1278)ctC>ctT	p.L426L	GAD2_uc001isq.2_Silent_p.L426L	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	426					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)	CCTCCTACCTCTTTCAGCAAG	0.398000														45			23		0	0	0.003954	0	0
RASGRP3	25780	broad.mit.edu	37	2	33740208	33740208	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:33740208G>A	uc002rox.3	+	3	632	c.5G>A	c.(4-6)gGa>gAa	p.G2E	RASGRP3_uc010ync.2_Missense_Mutation_p.G2E|RASGRP3_uc002roy.3_Missense_Mutation_p.G2E	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	2					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)					ATAACCATGGGATCAAGTGGC	0.428000														56			27		0	0	0.006320	0	0
KLKB1	3818	broad.mit.edu	37	4	187173248	187173248	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:187173248C>T	uc003iyy.3	+	10	1293	c.1222C>T	c.(1222-1224)Ctg>Ttg	p.L408L	KLKB1_uc011clc.2_Silent_p.L206L|KLKB1_uc011cld.2_Silent_p.L370L	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	408	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)		GCAGGTGAGCCTGCAGGTGAA	0.537000														54			26		0	0	0.004656	0	0
COL4A2	1284	broad.mit.edu	37	13	111156235	111156235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:111156235C>T	uc001vqx.3	+	43	4469	c.4180C>T	c.(4180-4182)Ccc>Tcc	p.P1394S		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1394	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)			TGCAGGAATCCCCCAGAAGAT	0.682000														51			20		0	0	0.004656	0	0
BMS1	9790	broad.mit.edu	37	10	43312104	43312104	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:43312104C>T	uc001jaj.3	+	13	2745	c.2387C>T	c.(2386-2388)tCa>tTa	p.S796L		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	796					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						AAGGGAAAATCAGGCCCCAAT	0.483000														37			8		0	0	0.006214	0	0
NLRP8	126205	broad.mit.edu	37	19	56481950	56481950	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:56481950C>T	uc002qmh.3	+	5	2493	c.2422C>T	c.(2422-2424)Ctt>Ttt	p.L808F	NLRP8_uc010etg.3_Missense_Mutation_p.L808F	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	808						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)		TTGGACTGATCTTGGCAATAA	0.478000														122			42		0	0	0.007835	0	0
MMP9	4318	broad.mit.edu	37	20	44639169	44639169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:44639169C>T	uc002xqz.3	+	2	438	c.419C>T	c.(418-420)gCc>gTc	p.A140V		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	140					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)	ATTGACGACGCCTTTGCCCGC	0.617000														44			17		0	0	0.004990	0	0
GRIK2	2898	broad.mit.edu	37	6	102516257	102516257	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:102516257G>A	uc003pqp.4	+	15	2891	c.2598G>A	c.(2596-2598)agG>agA	p.R866R	GRIK2_uc010kcw.3_3'UTR|GRIK2_uc003pqo.4_3'UTR|GRIK2_uc021zdk.1_3'UTR|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.	866					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	p.P866L(1)		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)	AAGAATTGAGGATGTCCCTGA	0.388000														23			14		0	0	0.004990	0	0
NLRP11	204801	broad.mit.edu	37	19	56321651	56321651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:56321651C>T	uc010ygf.2	-	4	1036	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	NLRP11_uc002qlz.3_Missense_Mutation_p.E10K|NLRP11_uc002qmb.3_Missense_Mutation_p.E10K|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.	109							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)		GTGTGACTTTCCCATTGCAGC	0.378000														20			7		0	0	0.001984	0	0
USP32	84669	broad.mit.edu	37	17	58282963	58282963	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:58282963G>A	uc002iyo.1	-	25	3380	c.3094C>T	c.(3094-3096)Cta>Tta	p.L1032L	USP32_uc002iyn.1_Silent_p.L702L	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	1032					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)			GGTCGGGGTAGGTCCCCATTG	0.413000														96			31		0	0	0.003271	0	0
NLRP2	55655	broad.mit.edu	37	19	55494523	55494523	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:55494523G>A	uc021vbq.1	+	5	1568	c.1457G>A	c.(1456-1458)gGa>gAa	p.G486E	NLRP2_uc010yfp.2_Missense_Mutation_p.G463E|NLRP2_uc002qij.3_Missense_Mutation_p.G486E|NLRP2_uc010esp.3_Missense_Mutation_p.G464E|NLRP2_uc010esn.3_Missense_Mutation_p.G462E|NLRP2_uc010eso.3_Missense_Mutation_p.G483E	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	486	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)		TTCCTGGACGGAGACATCCTC	0.617000														39			22		0	0	0.001882	0	0
TNS1	7145	broad.mit.edu	37	2	218713465	218713465	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:218713465G>A	uc002vgt.2	-	16	1798	c.1400C>T	c.(1399-1401)cCa>cTa	p.P467L	TNS1_uc002vgr.2_Missense_Mutation_p.P467L|TNS1_uc002vgs.2_Missense_Mutation_p.P467L|TNS1_uc010zjv.1_Missense_Mutation_p.P467L|TNS1_uc010fvj.1_Missense_Mutation_p.P535L|TNS1_uc010fvk.1_Missense_Mutation_p.P592L|TNS1_uc010fvi.1_Missense_Mutation_p.P154L	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	467						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)		GCCCCCTGCTGGGCGGGACCT	0.642000														78			20		0	0	0.003954	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906576	164906576	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:164906576C>T	uc003fej.4	-	1	2487	c.2043G>A	c.(2041-2043)agG>agA	p.R681R	SLITRK3_uc003fek.3_Silent_p.R681R|SLITRK3_uc021xgy.1_Silent_p.R681R	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	681						integral to membrane		p.R680L(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						TCTTTCGACGCCTTCGGAGCA	0.542000										HNSCC(40;0.11)				32			33		0	0	0.003271	0	0
PCLO	27445	broad.mit.edu	37	7	82531969	82531969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:82531969G>A	uc003uhx.2	-	8	13815	c.13526C>T	c.(13525-13527)tCa>tTa	p.S4509L	PCLO_uc003uhv.2_Missense_Mutation_p.S4509L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4440					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						TGCTTTACCTGAAACTGTGTG	0.284000														15			9		0	0	0.008291	0	0
WDR35	57539	broad.mit.edu	37	2	20114007	20114007	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:20114007G>A	uc002rdi.3	-	26	3294	c.3186C>T	c.(3184-3186)atC>atT	p.I1062I	WDR35_uc002rdj.3_Silent_p.I1051I|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.	1062										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)					CCACAGGAGGGATGATGTCTT	0.388000														38			18		0	0	0.007413	0	0
ENOX2	10495	broad.mit.edu	37	X	129804108	129804108	+	Silent	SNP	G	A	A	rs140378068		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:129804108G>A	uc004evw.3	-	7	1030	c.612C>T	c.(610-612)ttC>ttT	p.F204F	ENOX2_uc004evx.3_Silent_p.F175F|ENOX2_uc004evy.3_Silent_p.F175F|ENOX2_uc004evv.3_Silent_p.F31F	NM_182314	NP_006366	Q16206	ENOX2_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA.	204	RRM.				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			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GAGCCTGTGCGAAATCAACGT	0.522000														29			21		0	0	0.001882	0	0
MLL3	58508	broad.mit.edu	37	7	151970830	151970830	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:151970830G>A	uc003wla.3	-	6	1191	c.972C>T	c.(970-972)ttC>ttT	p.F324F		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	324					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)		GACAAAGCAGGAAGATGTGAC	0.398000			N		medulloblastoma									186			6		0	0	0.001984	0	0
SLC6A17	388662	broad.mit.edu	37	1	110740128	110740128	+	Silent	SNP	C	T	T	rs145972492		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:110740128C>T	uc009wfq.3	+	10	2183	c.1722C>T	c.(1720-1722)ttC>ttT	p.F574F		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	574					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)		TGTGGAAGTTCGTGTCTCCAC	0.602000											OREG0013652	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			16		0	0	0.004990	0	0
ZNF775	285971	broad.mit.edu	37	7	150093942	150093942	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:150093942C>T	uc003whf.1	+	2	498	c.373C>T	c.(373-375)Cac>Tac	p.H125Y		NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	Homo sapiens zinc finger protein 775 (ZNF775), mRNA.	125					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)		CCTGAAGATCCACCAGCGCAC	0.662000														17			11		0	0	0.000978	0	0
LRP2	4036	broad.mit.edu	37	2	169989179	169989179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:169989179C>T	uc002ues.3	-	76	13846	c.13633G>A	c.(13633-13635)Gaa>Aaa	p.E4545K		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4545					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)	TCCACATTTTCAGATACAGTC	0.383000														33			18		0	0	0.004990	0	0
CRB1	23418	broad.mit.edu	37	1	197390638	197390638	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:197390638C>T	uc001gtz.3	+	5	1889	c.1680C>T	c.(1678-1680)caC>caT	p.H560H	CRB1_uc010poz.2_Silent_p.H491H|CRB1_uc009wza.3_Silent_p.H448H|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.H560H|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.H41H|CRB1_uc001gub.1_Silent_p.H209H	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	560	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			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						TCATTTCCCACAACACCAGCG	0.463000														45			30		0	0	0.009535	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964647	88964647	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:88964647A>G	uc011khi.2	+	3	2889	c.2351A>G	c.(2350-2352)aAc>aGc	p.N784S		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	784						intracellular	zinc ion binding			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)			AAAGAGAGGAACTGCAAATTG	0.363000										HNSCC(36;0.09)				16			8		0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179572409	179572409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179572409C>T	uc021vsy.1	-	96	25378	c.25153G>A	c.(25153-25155)Gaa>Aaa	p.E8385K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5046K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9312	Ig-like 66.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E8385K(1)|p.E8385Q(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)			GGCTTTATTTCCCTGCCAGCC	0.498000														30			17		0	0	0.004007	0	0
ZNF385C	201181	broad.mit.edu	37	17	40179017	40179018	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:40179017_40179018GG>AA	uc021txr.1	-	7	1172_1173	c.1172_1173CC>TT	c.(1171-1173)gcc>gTT	p.A391V		NM_001242704	NP_001229633			Homo sapiens zinc finger protein 385C (ZNF385C), mRNA.											lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	3		all_cancers(22;0.00127)|Breast(137;0.00104)|all_epithelial(22;0.0126)				AGAGGGTAGTGGCTGCTGTAGG	0.683000														24			10		0	0	0.004672	0	0
RGPD4	285190	broad.mit.edu	37	2	108488609	108488609	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:108488609G>A	uc010ywk.2	+	19	4231	c.4149G>A	c.(4147-4149)aaG>aaA	p.K1383K	RGPD4_uc002tdu.3_Silent_p.K570K|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1383	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GTGATATAAAGATTTTACAGA	0.348000														162			54		0	0	0.003610	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110471946	110471946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:110471946G>A	uc003yne.3	+	46	7231	c.7127G>A	c.(7126-7128)gGa>gAa	p.G2376E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2376					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.L2375L(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)			CTCCCTGATGGAACTCTGTTT	0.363000										HNSCC(38;0.096)				22			13		0	0	0.002450	0	0
PRSS37	136242	broad.mit.edu	37	7	141540847	141540847	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:141540847C>T	uc003vws.2	-	0	375	c.3G>A	c.(1-3)atG>atA	p.M1I	PRSS37_uc011krl.2_Missense_Mutation_p.M1I|PRSS37_uc011krk.2_5'UTR|PRSS37_uc003vwt.2_5'UTR	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.	1					proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						AGACATATTTCATGGTGATCC	0.483000														86			20		0	0	0.008871	0	0
TBC1D10B	26000	broad.mit.edu	37	16	30370638	30370638	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:30370638G>A	uc002dxu.2	-	6	1515	c.1497C>T	c.(1495-1497)cgC>cgT	p.R499R	TBC1D10B_uc002dxt.2_5'UTR	NM_015527	NP_056342	Q4KMP7	TB10B_HUMAN	Homo sapiens TBC1 domain family, member 10B (TBC1D10B), mRNA.	499	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			GGGAGGCCCGGCGCAGGAGTG	0.642000														4			3		0	0	0.004672	0	0
NLRP11	204801	broad.mit.edu	37	19	56300293	56300293	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:56300293A>G	uc010ygf.2	-	10	3446	c.2735T>C	c.(2734-2736)gTt>gCt	p.V912A	NLRP11_uc002qlz.3_Missense_Mutation_p.V759A|NLRP11_uc002qmb.3_Missense_Mutation_p.V813A|NLRP11_uc002qmc.3_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	912							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)		GGTGGTAAGAACAGAGGCAAG	0.453000														45			13		0	0	0.001855	0	0
GUCY2C	2984	broad.mit.edu	37	12	14827637	14827637	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:14827637G>A	uc001rcd.3	-	7	1143	c.1006C>T	c.(1006-1008)Ctg>Ttg	p.L336L	GUCY2C_uc009zhz.2_Silent_p.L336L	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	336					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						AATATCTTCAGCATATGTCCA	0.353000														48			28		0	0	0.006320	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43651086	43651086	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:43651086C>T	uc001jan.3	+	1	824	c.489C>T	c.(487-489)ctC>ctT	p.L163L	CSGALNACT2_uc001jam.1_Silent_p.L163L	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.	163					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	p.G162C(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAATGGGTCTCACTCGCCATC	0.413000														29			12		0	0	0.002450	0	0
HHIP	64399	broad.mit.edu	37	4	145567906	145567906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:145567906G>A	uc003ijs.2	+	0	759	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	LOC646576_uc003ijq.2_5'Flank|HHIP_uc003ijr.2_Missense_Mutation_p.E27K	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	27						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)		TAAGTTTGGGGAAAGAAACGA	0.572000														73			24		0	0	0.003330	0	0
COL11A2	1302	broad.mit.edu	37	6	33133414	33133414	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:33133414G>A	uc003ocx.1	-	62	4890	c.4662C>T	c.(4660-4662)atC>atT	p.I1554I	COL11A2_uc010jul.1_Silent_p.I124I|COL11A2_uc003ocy.1_Silent_p.I1468I|COL11A2_uc003ocz.1_Silent_p.I1447I	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1554	Fibrillar collagen NC1.				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						TCATCTGCTCGATCTCCTCCC	0.652000														71			40		0	0	0.004878	0	0
EXT1	2131	broad.mit.edu	37	8	118842550	118842550	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:118842550G>A	uc003yok.1	-	3	1976	c.1203C>T	c.(1201-1203)atC>atT	p.I401I		NM_000127	NP_000118	Q16394	EXT1_HUMAN	Homo sapiens exostosin 1 (EXT1), mRNA.	401					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)			TAAGTGCTAGGATTTTATCCT	0.373000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses					37			13		0	0	0.001855	0	0
EHMT1	79813	broad.mit.edu	37	9	140729357	140729357	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:140729357G>A	uc011mfc.2	+	26	3886	c.3849G>A	c.(3847-3849)gaG>gaA	p.E1283E	EHMT1_uc004coe.3_Silent_p.E188E	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	1283					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)		AGGCCCAGGAGGACGGCTTGC	0.766000														8			4		0	0	0.009096	0	0
AHI1	54806	broad.mit.edu	37	6	135787209	135787209	+	Silent	SNP	G	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:135787209G>C	uc003qgi.3	-	6	876	c.492C>G	c.(490-492)ggC>ggG	p.G164G	AHI1_uc003qgh.3_Silent_p.G164G|AHI1_uc003qgj.3_Silent_p.G164G|AHI1_uc003qgk.4_Non-coding_Transcript|AHI1_uc003qgl.3_Silent_p.G164G	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	164						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)		GATGATCAACGCCTGGCTGTG	0.443000														36			38		0	0	0.006999	0	0
ZNF385D	79750	broad.mit.edu	37	3	21462713	21462713	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:21462713G>A	uc003cce.3	-	7	1589	c.1181C>T	c.(1180-1182)cCt>cTt	p.P394L		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	394						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						AATTTAGTAAGGAGCAAACAG	0.438000														16			5		0	0	0.001168	0	0
CCDC86	79080	broad.mit.edu	37	11	60615428	60615428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:60615428C>T	uc001nqa.2	+	1	959	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C		NM_024098	NP_077003	Q9H6F5	CCD86_HUMAN	Homo sapiens coiled-coil domain containing 86 (CCDC86), mRNA.	264					interspecies interaction between organisms	nucleus		p.R264H(1)		endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						CAAGCCCCTGCGCACATCGTG	0.617000														87			12		0	0	0.001368	0	0
GFOD1	54438	broad.mit.edu	37	6	13365764	13365764	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:13365764G>A	uc003nat.2	-	1	1131	c.384C>T	c.(382-384)ttC>ttT	p.F128F	GFOD1_uc021ylt.1_Silent_p.F25F|GFOD1_uc003nas.2_Silent_p.F25F	NM_018988	NP_001229559	Q9NXC2	GFOD1_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 1 (GFOD1), transcript variant 1, mRNA.	128						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)			TCATGCGCACGAAAGCCGGCA	0.647000														54			25		0	0	0.004656	0	0
FAM55B	120406	broad.mit.edu	37	11	114568808	114568808	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:114568808G>A	uc009yyy.2	+	2	272	c.174G>A	c.(172-174)ggG>ggA	p.G58G		NM_182495	NP_872301	Q96DL1	FA55B_HUMAN	Homo sapiens family with sequence similarity 55, member B (FAM55B), mRNA.	58						integral to membrane		p.G58R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|lung(6)|ovary(1)	14						TGAACCAAGGGAACATCTTCA	0.358000														1			2		0	0	0.004672	0	0
DHX34	9704	broad.mit.edu	37	19	47870377	47870377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:47870377C>T	uc010xyn.2	+	6	2082	c.1733C>T	c.(1732-1734)tCc>tTc	p.S578F	DHX34_uc010elc.1_Missense_Mutation_p.S493F	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	578						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)		CCCATTGGGTCCCTGCTAGCC	0.647000														17			5		0	0	0.000602	0	0
SH2D4B	387694	broad.mit.edu	37	10	82331305	82331305	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:82331305C>T	uc001kck.1	+	2	896	c.466C>T	c.(466-468)Ctg>Ttg	p.L156L	SH2D4B_uc001kcl.1_Silent_p.L107L	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA.	155	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			TGCCAAAGTCCTGGAGGAACG	0.597000														50			16		0	0	0.004007	0	0
CHD4	1108	broad.mit.edu	37	12	6687654	6687655	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:6687654_6687655GG>AA	uc001qpo.3	-	34	5203_5204	c.5039_5040CC>TT	c.(5038-5040)ccc>cTT	p.P1680L	CHD4_uc001qpn.3_Missense_Mutation_p.P1673L|CHD4_uc001qpp.3_Missense_Mutation_p.P1705L|AK096395_uc001qpq.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1680	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|zinc ion binding			central_nervous_system(2)	2						TCAGGTCCTTGGGGGTCTCTCC	0.411000														28			22		0	0	0.004672	0	0
PARD3	56288	broad.mit.edu	37	10	34400111	34400111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:34400111G>A	uc010qej.2	-	24	4387	c.4057C>T	c.(4057-4059)Ccc>Tcc	p.P1353S	PARD3_uc010qep.2_Missense_Mutation_p.P1263S|PARD3_uc010qeq.2_Missense_Mutation_p.P1241S|PARD3_uc010qek.2_Missense_Mutation_p.P1350S|PARD3_uc010qel.2_Missense_Mutation_p.P1316S|PARD3_uc010qem.2_Missense_Mutation_p.P1337S|PARD3_uc010qen.2_Missense_Mutation_p.P1307S|PARD3_uc010qeo.2_Missense_Mutation_p.P1270S	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	1353					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	p.R1352G(1)		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)				GAATAGAAGGGCCTCCCTTTC	0.502000														59			21		0	0	0.001882	0	0
BEST3	144453	broad.mit.edu	37	12	70049370	70049370	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:70049370T>A	uc001svg.3	-	9	1551	c.1324A>T	c.(1324-1326)Aac>Tac	p.N442Y	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.N229Y|BEST3_uc010stm.2_Missense_Mutation_p.N336Y	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	442						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)			CTGGGGGGGTTTCTTGAGGGC	0.582000														61			26		0	0	0.004656	0	0
NADKD1	133686	broad.mit.edu	37	5	36241660	36241660	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:36241660C>T	uc003jkf.4	-	0	241	c.241G>A	c.(241-243)Gag>Aag	p.E81K	NADKD1_uc003jkg.4_Intron|NADKD1_uc011cov.2_Intron	NM_001085411	NP_694558	Q4G0N4	NAKD1_HUMAN	Homo sapiens NAD kinase domain containing 1 (NADKD1), transcript variant 1, mRNA.	81							NAD+ kinase activity			NS(1)|breast(1)|lung(5)|ovary(4)|prostate(1)	12						TGCTCGAACTCGTACCGGGTG	0.741000														9			3		0	0	0.004672	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157999	26157999	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:26157999C>T	uc022bub.1	+	0	897	c.897C>T	c.(895-897)ttC>ttT	p.F299F	MAGEB18_uc004dbq.2_Silent_p.F299F	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	299	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CTAGTGCCTTCCCATCCTGCT	0.517000														20			5		0	0	0.000602	0	0
CCHCR1	54535	broad.mit.edu	37	6	31122394	31122394	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:31122394G>A	uc003nsp.4	-	3	869	c.680C>T	c.(679-681)gCc>gTc	p.A227V	CCHCR1_uc011dne.2_Missense_Mutation_p.A138V|CCHCR1_uc003nsq.4_Missense_Mutation_p.A191V|CCHCR1_uc003nsr.4_Missense_Mutation_p.A138V|CCHCR1_uc010jsk.1_Missense_Mutation_p.A138V	NM_001105564	NP_061925	Q8TD31	CCHCR_HUMAN	Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript variant 1, mRNA.	138					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AGCTCGGCCGGCCTTCTCCGC	0.662000														194			75		0	0	0.003610	0	0
CSTL1	128817	broad.mit.edu	37	20	23421109	23421109	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:23421109C>T	uc002wte.3	+	1	451	c.205C>T	c.(205-207)Cga>Tga	p.R69*	CSTL1_uc010zsu.2_Non-coding_Transcript|CSTL1_uc010zsv.2_Non-coding_Transcript	NM_138283	NP_612140	Q9H114	CST1L_HUMAN	Homo sapiens cystatin-like 1 (CSTL1), mRNA.	69						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					GAGGCTAATTCGAAGTCAGAT	0.463000														41			30		0	0	0.007291	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734739	12734739	+	Missense_Mutation	SNP	G	A	A	rs147167664		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:12734739G>A	uc004cuz.2	+	14	2667	c.2161G>A	c.(2161-2163)Gat>Aat	p.D721N	FRMPD4_uc011mij.2_Missense_Mutation_p.D713N	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	721					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						AAACATAGGCGATGTGAAGAG	0.522000														151			75		0	0	0.003610	0	0
WFIKKN1	117166	broad.mit.edu	37	16	682864	682864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:682864C>T	uc002cht.1	+	1	696	c.454C>T	c.(454-456)Ctc>Ttc	p.L152F	AK128777_uc002chs.1_3'UTR	NM_053284	NP_444514	Q96NZ8	WFKN1_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 (WFIKKN1), mRNA.	152	Kazal-like.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				GGGCCTGCACCTCCACATCGT	0.721000														32			10		0	0	0.001855	0	0
CR2	1380	broad.mit.edu	37	1	207643227	207643227	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:207643227G>A	uc001hfw.3	+	5	1124	c.1005G>A	c.(1003-1005)tgG>tgA	p.W335*	CR2_uc001hfv.3_Nonsense_Mutation_p.W335*|CR2_uc009xch.3_Nonsense_Mutation_p.W335*|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.	335	Sushi 5.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.W335*(2)		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						CTGGGACCTGGAGTGGCCCTG	0.522000														34			14		0	0	0.002450	0	0
CREBRF	153222	broad.mit.edu	37	5	172517682	172517682	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:172517682C>T	uc003mch.3	+	3	819	c.500C>T	c.(499-501)cCc>cTc	p.P167L	CREBRF_uc003mcf.3_Missense_Mutation_p.P167L|CREBRF_uc003mcg.3_Missense_Mutation_p.P167L|CREBRF_uc011dfd.1_Missense_Mutation_p.P167L	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	Homo sapiens chromosome 5 open reading frame 41 (C5orf41), transcript variant 1, mRNA.	167							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										AAACAAAATCCCTTACCCTCT	0.433000														30			16		0	0	0.004007	0	0
MACROD2	140733	broad.mit.edu	37	20	15480430	15480430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:15480430G>A	uc002wou.3	+	7	847	c.583G>A	c.(583-585)Gag>Aag	p.E195K	MACROD2_uc002wot.3_Missense_Mutation_p.E195K|MACROD2_uc002woz.3_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	195	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CTTTCCCAACGAGCCTGCTGC	0.443000														38			8		0	0	0.006214	0	0
CMYA5	202333	broad.mit.edu	37	5	79034731	79034731	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:79034731G>A	uc003kgc.3	+	1	10215	c.10143G>A	c.(10141-10143)gaG>gaA	p.E3381E		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3381						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)		CCTTCCCGGAGGAAGAATTTG	0.478000														65			30		0	0	0.008361	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698508	103698508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:103698508C>T	uc001vpy.4	-	5	1619	c.1022G>A	c.(1021-1023)gGa>gAa	p.G341E		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	341					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTGAAATCCTCCATTTGCCTT	0.363000														44			13		0	0	0.001855	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124221681	124221681	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:124221681C>T	uc001ufr.3	+	8	1149	c.901C>T	c.(901-903)Cag>Tag	p.Q301*	ATP6V0A2_uc001ufq.1_Nonsense_Mutation_p.Q301*	NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA.	301					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)		CCGTGTGATCCAGGTGAAGAA	0.517000														69			33		0	0	0.004289	0	0
SEC23IP	11196	broad.mit.edu	37	10	121675273	121675273	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:121675273G>A	uc001leu.2	+	7	1626	c.1416G>A	c.(1414-1416)agG>agA	p.R472R	SEC23IP_uc010qtc.2_Silent_p.R261R	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.	472					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)		ATGATTTTAGGGTGGTTTCTC	0.358000														30			17		0	0	0.004990	0	0
NUCB1	4924	broad.mit.edu	37	19	49416303	49416303	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:49416303T>A	uc002plb.4	+	5	850	c.516T>A	c.(514-516)caT>caA	p.H172Q	NUCB1_uc002pla.3_Missense_Mutation_p.H172Q|Mir_324_uc021uxb.1_5'Flank	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	Homo sapiens nucleobindin 1 (NUCB1), mRNA.	172						ER-Golgi intermediate compartment|Golgi apparatus|extracellular space|membrane|microtubule cytoskeleton	DNA binding|calcium ion binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		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;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		ACGCAGCCCATCATGAAGAGT	0.597000														83			37		0	0	0.007835	0	0
INVS	27130	broad.mit.edu	37	9	103002492	103002492	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:103002492C>T	uc004bap.1	+	5	978	c.766C>T	c.(766-768)Cga>Tga	p.R256*	INVS_uc010mta.2_Nonsense_Mutation_p.R160*|INVS_uc011lve.1_Nonsense_Mutation_p.R160*|INVS_uc004bao.1_Nonsense_Mutation_p.R256*|INVS_uc004baq.1_Nonsense_Mutation_p.R160*|INVS_uc004bar.1_Nonsense_Mutation_p.R160*|INVS_uc010mtb.1_5'UTR	NM_014425	NP_055240	Q9Y283	INVS_HUMAN	Homo sapiens inversin (INVS), transcript variant 1, mRNA.	256					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding	p.R256*(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TAACTTATTTCGAACCCCACT	0.418000														37			15		0	0	0.004007	0	0
BRDT	676	broad.mit.edu	37	1	92445279	92445279	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:92445279G>A	uc001dol.4	+	8	1670	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	BRDT_uc010osz.2_Missense_Mutation_p.E422K|BRDT_uc001dok.4_Missense_Mutation_p.E418K|BRDT_uc009wdf.3_Missense_Mutation_p.E345K|BRDT_uc010otb.2_Missense_Mutation_p.E372K|BRDT_uc010ota.2_Missense_Mutation_p.E372K|BRDT_uc001dom.4_Missense_Mutation_p.E418K	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	418					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)		TTCTGAAGATGAGCGAGTTAA	0.378000														45			15		0	0	0.004007	0	0
CNOT6	57472	broad.mit.edu	37	5	179996161	179996161	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:179996161C>T	uc003mlx.3	+	9	1428	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V	CNOT6_uc010jld.3_Missense_Mutation_p.A360V|CNOT6_uc010jle.3_Missense_Mutation_p.A355V	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6 (CNOT6), mRNA.	360					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|exonuclease activity|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GTGGCTAACGCCCACATGCAT	0.413000														60			13		0	0	0.001368	0	0
FAM135B	51059	broad.mit.edu	37	8	139145022	139145022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:139145022C>T	uc003yuy.3	-	19	4206	c.4035G>A	c.(4033-4035)atG>atA	p.M1345I	FAM135B_uc003yux.3_Missense_Mutation_p.M1246I|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1345										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGTTGTTGATCATTTCTGCAT	0.502000										HNSCC(54;0.14)				138			53		0	0	0.003610	0	0
CD1A	909	broad.mit.edu	37	1	158224966	158224966	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:158224966G>A	uc001frt.3	+	1	684	c.151G>A	c.(151-153)Gat>Aat	p.D51N	CD1A_uc021pbk.1_5'Flank	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	51					antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane				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)	TTGGCTGAGTGATTTGCAGAC	0.517000														33			21		0	0	0.010504	0	0
OR4K5	79317	broad.mit.edu	37	14	20389067	20389067	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:20389067T>C	uc010tkw.2	+	0	302	c.302T>C	c.(301-303)aTt>aCt	p.I101T		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	101					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)		ATAGCCCAAATTTTCTTTATT	0.418000														126			48		0	0	0.003610	0	0
CYP4X1	260293	broad.mit.edu	37	1	47498981	47498981	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:47498981C>T	uc001cqt.3	+	3	683	c.433C>T	c.(433-435)Cat>Tat	p.H145Y	CYP4X1_uc001cqr.3_Missense_Mutation_p.H144Y|CYP4X1_uc001cqs.3_Missense_Mutation_p.H80Y	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	145						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						TCCTGGATTCCATTTTAACAT	0.453000														34			13		0	0	0.001368	0	0
SPDYE1	285955	broad.mit.edu	37	7	44046923	44046923	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:44046923A>G	uc003tjf.3	+	4	825	c.689A>G	c.(688-690)cAc>cGc	p.H230R	POLR2J4_uc003tjc.2_Intron|POLR2J4_uc003tjd.3_Intron|POLR2J4_uc010kxw.2_Intron|POLR2J4_uc003tje.4_Intron|AX747182_uc003tjg.1_Non-coding_Transcript	NM_175064	NP_778234	Q8NFV5	SPDE1_HUMAN	Homo sapiens speedy homolog E1 (Xenopus laevis) (SPDYE1), mRNA.	230										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						AACATCTTCCACTTCCTGTAT	0.557000														164			81		0	0	0.003610	0	0
OR2B3	442184	broad.mit.edu	37	6	29054754	29054754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:29054754G>A	uc003nlx.3	-	0	337	c.272C>T	c.(271-273)aCc>aTc	p.T91I		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						ATAGCTGATGGTCTTTTTGTT	0.448000														54			25		0	0	0.002780	0	0
CES1P1	51716	broad.mit.edu	37	16	55806417	55806417	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:55806417G>A	uc002eik.3	+	4	719	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	CES1P1_uc010cce.3_Missense_Mutation_p.E90K					Homo sapiens carboxylesterase 1 pseudogene 1 (CES1P1), non-coding RNA.																		AGTGGGAGGAGAAAGTGTCTC	0.562000														26			9		0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179439256	179439256	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179439256C>T	uc021vsy.1	-	274	64124	c.63899G>A	c.(63898-63900)cGa>cAa	p.R21300Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R14995Q|TTN_uc021vta.1_Missense_Mutation_p.R14928Q|TTN_uc021vtb.1_Missense_Mutation_p.R14803Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22227							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R14803Q(1)|p.R21298Q(1)|p.R14928Q(1)|p.R14995Q(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)			AATACCATTTCGTTCTTTTCT	0.418000														142			59		0	0	0.003610	0	0
SALL1	6299	broad.mit.edu	37	16	51174183	51174183	+	Silent	SNP	G	A	A	rs138705495	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:51174183G>A	uc021tif.1	-	1	1981	c.1659C>T	c.(1657-1659)ggC>ggT	p.G553G	SALL1_uc021tid.1_Silent_p.G553G|SALL1_uc021tie.1_Silent_p.G650G|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	650					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)			TGCCCGCGGGGCCGCAGTCTG	0.622000														42			16		0	0	0.004007	0	0
NXF4	55999	broad.mit.edu	37	X	101818027	101818027	+	Splice_Site	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:101818027G>A	uc004ejf.1	+	6		c.724_splice	c.e6+1							Homo sapiens nuclear RNA export factor 4 pseudogene (NXF4), non-coding RNA.											endometrium(2)|lung(8)	10						CATAGCTAAAGGTAATACAGA	0.458000														23			15		0	0	0.002450	0	0
BEND5	79656	broad.mit.edu	37	1	49208377	49208377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:49208377G>A	uc001crx.4	-	3	856	c.812C>T	c.(811-813)aCt>aTt	p.T271I	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc010omy.1_Intron|AGBL4_uc001crv.1_Intron|BEND5_uc001crw.4_Missense_Mutation_p.T102I	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	Homo sapiens BEN domain containing 5 (BEND5), mRNA.	271										large_intestine(5)|lung(2)|skin(1)	8						CTCACTGAAAGTGCTCCGTAA	0.468000														69			32		0	0	0.009535	0	0
TMEM119	338773	broad.mit.edu	37	12	108985963	108985963	+	Missense_Mutation	SNP	G	A	A	rs146247958		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:108985963G>A	uc001tng.3	-	1	360	c.197C>T	c.(196-198)tCg>tTg	p.S66L	TMEM119_uc021rdl.1_Missense_Mutation_p.S66L	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN	Homo sapiens transmembrane protein 119 (TMEM119), mRNA.	66						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						GGGCCCCATCGATGTGGGGCT	0.672000														41			13		0	0	0.002450	0	0
WAS	7454	broad.mit.edu	37	X	48546827	48546827	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:48546827G>A	uc004dkm.4	+	8	973	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_000377	NP_000368	P42768	WASP_HUMAN	Homo sapiens Wiskott-Aldrich syndrome (eczema-thrombocytopenia) (WAS), mRNA.	306					T cell receptor signaling pathway|blood coagulation|defense response|epidermis development|immune response	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				TGTGCGGCAGGAGATGAGGCG	0.577000			"""Mis, N, F, S"""			lymphoma								23			11		0	0	0.001368	0	0
DENND1C	79958	broad.mit.edu	37	19	6467759	6467759	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:6467759G>A	uc002mfe.3	-	22	2254	c.2162C>T	c.(2161-2163)cCc>cTc	p.P721L	DENND1C_uc002mfb.3_Missense_Mutation_p.P271L|DENND1C_uc002mfc.3_Missense_Mutation_p.P271L|DENND1C_uc002mfd.3_Missense_Mutation_p.P271L|DENND1C_uc010xje.2_Missense_Mutation_p.P677L	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	721						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GGGCTTTGTGGGGGCCAGAAT	0.602000														17			7		0	0	0.003080	0	0
GHR	2690	broad.mit.edu	37	5	42718806	42718806	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:42718806C>T	uc021xxv.1	+	9	1355	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	GHR_uc003jmt.3_Silent_p.F399F|GHR_uc003jmu.3_Silent_p.F399F|GHR_uc003jmv.2_Silent_p.F399F|GHR_uc021xxw.1_Silent_p.F399F|GHR_uc021xxx.1_Silent_p.F399F|GHR_uc021xxy.1_Silent_p.F399F|GHR_uc021xxz.1_Silent_p.F399F|GHR_uc021xya.1_Silent_p.F399F|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Silent_p.F212F|GHR_uc021xyd.1_Silent_p.F377F	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	399					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)	AGACTGATTTCAATGCCAATG	0.458000														51			28		0	0	0.002096	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283840	151283840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:151283840G>A	uc004ffj.3	-	2	345	c.173C>T	c.(172-174)tCa>tTa	p.S58L	MAGEA5_uc022cgy.1_Missense_Mutation_p.S58L	NM_021049	NP_066387	P43359	MAGA5_HUMAN	Homo sapiens melanoma antigen family A, 5 (MAGEA5), mRNA.	58	MAGE.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACCTGGTGACCCAGCAGC	0.612000														75			24		0	0	0.006320	0	0
RFX6	222546	broad.mit.edu	37	6	117246749	117246749	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:117246749C>T	uc003pxm.3	+	15	1875	c.1812C>T	c.(1810-1812)tcC>tcT	p.S604S		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	604					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						CTCTGCCATCCAGTCAACCTG	0.542000														23			17		0	0	0.006122	0	0
GLUD2	2747	broad.mit.edu	37	X	120181778	120181778	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:120181778C>T	uc004eto.3	+	0	317	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_012084	NP_036216	P49448	DHE4_HUMAN	Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	80					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|GTP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|leucine binding	p.I80I(2)		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)	GCGCCAGCATCGTGGAGGACA	0.642000														64			32		0	0	0.003755	0	0
THAP4	51078	broad.mit.edu	37	2	242524126	242524126	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:242524126G>A	uc002wbt.3	-	5	1922	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F	THAP4_uc002wbs.3_Silent_p.F131F|5S_rRNA_uc021vzi.1_5'Flank	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.	543							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)		AATTCAGCCTGAACTTCCGGG	0.488000														174			77		0	0	0.003610	0	0
DIAPH1	1729	broad.mit.edu	37	5	140903738	140903738	+	Silent	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:140903738T>C	uc003llb.4	-	26	3774	c.3633A>G	c.(3631-3633)gcA>gcG	p.A1211A	DIAPH1_uc011dbd.2_Silent_p.A105A|DIAPH1_uc003llc.4_Silent_p.A1202A|DIAPH1_uc021yep.1_Silent_p.A1211A|DIAPH1_uc021yeq.1_Silent_p.A1202A	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	1211	DAD.				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)			TCCGTCGGAATGCTGCCCCTG	0.557000														73			39		0	0	0.006230	0	0
RANBP2	5903	broad.mit.edu	37	2	109384069	109384069	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:109384069G>A	uc002tem.4	+	19	7200	c.7074G>A	c.(7072-7074)aaG>aaA	p.K2358K		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2358	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						GTGATATAAAGATTTTACAGA	0.348000														305			6		0	0	0.008871	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476750	140476750	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:140476750G>A	uc003lil.3	+	0	2514	c.2376G>A	c.(2374-2376)agG>agA	p.R792R	PCDHB2_uc003lim.1_Silent_p.R453R	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	792					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)			CCAGTTTCAGGAAGAGCTTTG	0.453000														69			39		0	0	0.003610	0	0
EGFLAM	133584	broad.mit.edu	37	5	38431358	38431358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:38431358G>A	uc003jlc.2	+	14	2480	c.2134G>A	c.(2134-2136)Gat>Aat	p.D712N	EGFLAM_uc003jlb.2_Missense_Mutation_p.D712N|EGFLAM_uc003jle.2_Missense_Mutation_p.D478N|EGFLAM_uc003jlf.2_Missense_Mutation_p.D78N	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	712	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)					CTTACAGGTGGATAAGCAGAA	0.478000														36			10		0	0	0.008291	0	0
CDHR1	92211	broad.mit.edu	37	10	85960389	85960389	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:85960389C>T	uc001kcv.3	+	5	576	c.471C>T	c.(469-471)gtC>gtT	p.V157V	CDHR1_uc001kcw.3_Silent_p.V157V|CDHR1_uc009xst.3_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	157	Cadherin 2.				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						TCTTTAAGGTCCATGCAGTGG	0.597000														9			9		0	0	0.008291	0	0
MRVI1	10335	broad.mit.edu	37	11	10597933	10597933	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:10597933C>T	uc010rcc.1	-	20	3071	c.2685G>A	c.(2683-2685)caG>caA	p.Q895Q	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Silent_p.Q887Q|MRVI1_uc001miw.2_Silent_p.Q886Q|MRVI1_uc001mix.3_Silent_p.Q580Q|MRVI1_uc001miz.2_Silent_p.Q804Q|MRVI1_uc010rcd.1_Silent_p.Q689Q|MRVI1_uc009ygd.1_Silent_p.Q580Q	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	868					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)		AGGAGTCCCTCTGGGCTGCCG	0.562000														21			16		0	0	0.004990	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376706	8376706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:8376706C>T	uc001qui.2	-	4	788	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	FAM90A1_uc001quh.2_Missense_Mutation_p.E77K	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	77							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TCCTTCCCTTCCTTTTCCCCA	0.552000														89			37		0	0	0.006999	0	0
ZNF782	158431	broad.mit.edu	37	9	99581524	99581524	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:99581524G>A	uc004awp.1	-	5	1062	c.781C>T	c.(781-783)Cct>Tct	p.P261S	ZNF782_uc011lup.1_Missense_Mutation_p.P129S	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	Homo sapiens zinc finger protein 782 (ZNF782), mRNA.	261					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)				ATGTTCTGAGGAATAATAAAG	0.353000														44			22		0	0	0.010504	0	0
PASD1	139135	broad.mit.edu	37	X	150832597	150832597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:150832597C>T	uc004fev.4	+	10	1180	c.848C>T	c.(847-849)tCc>tTc	p.S283F		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	283						nucleus	signal transducer activity	p.S283F(3)		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)					TCAGCCTTATCCTTGCAAGAC	0.473000														58			19		0	0	0.007413	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519565	113519565	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:113519565C>T	uc010ljy.1	-	3	1613	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	528					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						CTTTGTTTTTCATTAACACCT	0.348000														34			15		0	0	0.002450	0	0
abParts	0	broad.mit.edu	37	14	106993908	106993908	+	RNA	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:106993908C>T	uc021ser.1	-	233		c.9346G>A								Parts of antibodies, mostly variable regions.																		GATGGTGAATCGGCCCTTCAC	0.502000														401			10		0	0	0.001855	0	0
BMP15	9210	broad.mit.edu	37	X	50659177	50659177	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:50659177C>A	uc011mnw.2	+	1	798	c.749C>A	c.(748-750)cCc>cAc	p.P250H		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	250					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	p.P250F(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AAATTTCTTCCCAGGGGCATG	0.463000														48			23		3.28513e-13	3.35181e-13	0.003954	1	0
HEATR7B2	133558	broad.mit.edu	37	5	41061770	41061770	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:41061770G>A	uc003jmj.4	-	5	1007	c.517C>T	c.(517-519)Ccc>Tcc	p.P173S	HEATR7B2_uc021xxt.1_Missense_Mutation_p.P173S	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	173							binding			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						CTGGGGTAGGGAAAATCTCTC	0.448000														85			26		0	0	0.003954	0	0
CARD9	64170	broad.mit.edu	37	9	139259614	139259614	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:139259614C>T	uc022bpp.1	-	10	1579	c.1413G>A	c.(1411-1413)gaG>gaA	p.E471E	DNLZ_uc011mdv.1_5'Flank|DNLZ_uc004chf.1_5'Flank|CARD9_uc004chg.3_Silent_p.E471E|CARD9_uc022bpo.1_Silent_p.E471E	NM_052814	NP_434701	Q9H257	CARD9_HUMAN	Homo sapiens caspase recruitment domain family, member 9 (CARD9), transcript variant 2, mRNA.	471					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)		GCAAAACCTGCTCCTGGTGCA	0.672000														33			23		0	0	0.003954	0	0
MICALL2	79778	broad.mit.edu	37	7	1484998	1484998	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:1484998G>A	uc003skj.4	-	5	855	c.708C>T	c.(706-708)ttC>ttT	p.F236F	MICALL2_uc003ski.4_5'Flank	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	236	LIM zinc-binding.					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)		TGGTGCAGACGAAGGTGCCCG	0.677000														7			6		0	0	0.001984	0	0
DNAH9	1770	broad.mit.edu	37	17	11666862	11666862	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:11666862G>A	uc002gne.3	+	35	7169	c.7101G>A	c.(7099-7101)aaG>aaA	p.K2367K	DNAH9_uc010coo.3_Silent_p.K1661K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2367					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)		ACTGCCCTAAGGAAATTTATG	0.488000														51			23		0	0	0.002299	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135720944	135720944	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:135720944C>T	uc003eqv.2	+	1	1221	c.604C>T	c.(604-606)Ctt>Ttt	p.L202F	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.	202					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						TTCCATGTTTCTTCAAAACTT	0.388000														61			13		0	0	0.003163	0	0
CACNA1H	8912	broad.mit.edu	37	16	1265266	1265266	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:1265266C>T	uc002cks.3	+	28	5312	c.5064C>T	c.(5062-5064)atC>atT	p.I1688I	CACNA1H_uc002ckt.3_Silent_p.I1682I|CACNA1H_uc002cku.3_Silent_p.I394I|CACNA1H_uc010brj.3_Silent_p.I399I|CACNA1H_uc002ckv.3_Silent_p.I388I	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1688					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ACCTGGCCATCGTGCTGCTGT	0.647000														10			6		0	0	0.004482	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797441	148797441	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:148797441C>T	uc004fdq.3	+	4	450	c.295C>T	c.(295-297)Ccc>Tcc	p.P99S	MAGEA11_uc004fdr.3_Missense_Mutation_p.P70S	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	99						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)					CCAGATATTTCCCACAGTTCG	0.527000														82			32		0	0	0.003271	0	0
KCNH5	27133	broad.mit.edu	37	14	63473177	63473177	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:63473177C>T	uc001xfx.3	-	2	262	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	KCNH5_uc001xfy.3_Missense_Mutation_p.E71K|KCNH5_uc001xfz.1_Missense_Mutation_p.E13K|KCNH5_uc001xga.3_Missense_Mutation_p.E13K	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	71	PAS.				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)		TCAGTCAATTCCCCATACATA	0.348000														32			7		0	0	0.001984	0	0
SI	6476	broad.mit.edu	37	3	164785148	164785148	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:164785148C>T	uc003fei.3	-	5	678	c.615G>A	c.(613-615)agG>agA	p.R205R		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	205	Isomaltase.				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)	CGTTGCTTTTCCTAATAACTT	0.308000										HNSCC(35;0.089)				63			16		0	0	0.004990	0	0
PARP14	54625	broad.mit.edu	37	3	122414467	122414467	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:122414467C>T	uc003efq.4	+	4	852	c.793C>T	c.(793-795)Cct>Tct	p.P265S	PARP14_uc021xdc.1_Missense_Mutation_p.P129S|PARP14_uc010hrk.3_Non-coding_Transcript	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	265					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)		TGAATATTTTCCTGAAGAGAG	0.373000														12			7		0	0	0.003080	0	0
abParts	0	broad.mit.edu	37	14	106829737	106829737	+	RNA	SNP	C	T	T	rs3814933		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:106829737C>T	uc021ser.1	-	518		c.15166G>A			abParts_uc001ysx.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		TGATTGATTTCCCCAATCCAC	0.557000														81			33		0	0	0.002836	0	0
GADL1	339896	broad.mit.edu	37	3	30891550	30891550	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:30891550G>A	uc003cep.2	-	5	636	c.589C>T	c.(589-591)Cct>Tct	p.P197S	GADL1_uc003ceq.1_Missense_Mutation_p.P197S	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	197					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TTAATATCAGGACAATATTTG	0.323000														30			5		0	0	0.001984	0	0
ZNF676	163223	broad.mit.edu	37	19	22363780	22363780	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:22363780G>A	uc002nqs.1	-	2	1057	c.739C>T	c.(739-741)Cat>Tat	p.H247Y		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTCCAGTATGAATTATCTTA	0.368000														75			17		0	0	0.007413	0	0
LOC285359	285359	broad.mit.edu	37	3	101432039	101432039	+	RNA	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:101432039T>C	uc003dvj.3	+	0		c.762T>C								Homo sapiens phosducin-like 3 pseudogene (LOC285359), non-coding RNA.																		TGACTGAGGCTACAGCTGCTA	0.423000														18			7		0	0	0.001984	0	0
STARD13	90627	broad.mit.edu	37	13	33700223	33700223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:33700223C>T	uc001uuw.3	-	6	2203	c.2077G>A	c.(2077-2079)Gat>Aat	p.D693N	STARD13_uc001uuu.3_Missense_Mutation_p.D685N|STARD13_uc001uuv.3_Missense_Mutation_p.D575N|STARD13_uc001uux.3_Missense_Mutation_p.D658N|STARD13_uc021rhz.1_Missense_Mutation_p.D685N|STARD13_uc021ria.1_Missense_Mutation_p.D575N	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	693	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	p.L692L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CCTACCTGATCGAGGCAGTTG	0.552000														54			27		0	0	0.006320	0	0
TNFRSF1B	7133	broad.mit.edu	37	1	12267016	12267016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:12267016G>A	uc001att.3	+	9	1414	c.1325G>A	c.(1324-1326)gGg>gAg	p.G442E	TNFRSF1B_uc001atu.3_Missense_Mutation_p.G247E|TNFRSF1B_uc009vnk.3_Non-coding_Transcript	NM_001066	NP_001057	P20333	TNR1B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1B (TNFRSF1B), mRNA.	442					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)	ACCCTGCTGGGGAGCACCGAA	0.632000														28			17		0	0	0.006122	0	0
ZZZ3	26009	broad.mit.edu	37	1	78034136	78034136	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:78034136G>A	uc001dhq.3	-	12	2823	c.2347C>T	c.(2347-2349)Cct>Tct	p.P783S	ZZZ3_uc001dhr.3_Missense_Mutation_p.P289S|ZZZ3_uc001dhp.3_Missense_Mutation_p.P782S	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA.	783					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						TACATGATAGGAATACTTTCG	0.259000														15			9		0	0	0.004482	0	0
C8B	732	broad.mit.edu	37	1	57415241	57415241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:57415241C>T	uc001cyp.3	-	5	918	c.851G>A	c.(850-852)cGa>cAa	p.R284Q	C8B_uc010oon.2_Missense_Mutation_p.R222Q|C8B_uc010ooo.2_Missense_Mutation_p.R232Q	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	284	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ATGAGAGAATCGTTTGGTTCT	0.353000														24			7		0	0	0.001984	0	0
SLC27A6	28965	broad.mit.edu	37	5	128365365	128365365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:128365365C>T	uc003kuy.3	+	9	2044	c.1648C>T	c.(1648-1650)Cca>Tca	p.P550S	SLC27A6_uc003kuz.3_Missense_Mutation_p.P550S	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	550					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)		AACATTTCTACCAGCTTATGC	0.313000														27			9		0	0	0.006214	0	0
SH3D19	152503	broad.mit.edu	37	4	152069133	152069133	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:152069133G>A	uc010ipl.1	-	10	2273	c.1183C>T	c.(1183-1185)Caa>Taa	p.Q395*	SH3D19_uc003imb.2_Nonsense_Mutation_p.Q173*|SH3D19_uc003imc.2_Nonsense_Mutation_p.Q359*|SH3D19_uc003ime.2_Nonsense_Mutation_p.Q395*|SH3D19_uc010ipm.2_Nonsense_Mutation_p.Q395*	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA.	395					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)				ACCGGATCTTGATTTTTAAAA	0.403000														50			14		0	0	0.002450	0	0
NLRP5	126206	broad.mit.edu	37	19	56549405	56549405	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:56549405G>A	uc002qmj.3	+	9	2630	c.2630G>A	c.(2629-2631)gGa>gAa	p.G877E	NLRP5_uc002qmi.3_Missense_Mutation_p.G858E	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	877						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)		GATTGCTGTGGATTGACCCAT	0.557000														37			14		0	0	0.002450	0	0
BCAS1	8537	broad.mit.edu	37	20	52645374	52645374	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:52645374G>A	uc002xws.2	-	3	618	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	BCAS1_uc010zzb.1_5'UTR|BCAS1_uc010gim.2_5'UTR|BCAS1_uc002xwt.2_Missense_Mutation_p.R94C|BCAS1_uc010gil.1_Missense_Mutation_p.R94C|BCAS1_uc010zzc.2_5'UTR	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	94						cytoplasm	protein binding	p.R94S(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			AAGAAAAAACGAGATTTAGCA	0.517000														28			12		0	0	0.001368	0	0
NPHP3	27031	broad.mit.edu	37	3	132438567	132438567	+	Silent	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:132438567T>C	uc003epe.2	-	1	605	c.501A>G	c.(499-501)aaA>aaG	p.K167K	NPHP3-AS1_uc003epg.1_5'Flank|NPHP3_uc003epf.2_5'UTR|NPHP3-AS1_uc010htu.2_5'Flank	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	167					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						GCCTTTTAACTTTATCTCTGT	0.303000														51			19		0	0	0.008871	0	0
FAM131A	131408	broad.mit.edu	37	3	184060569	184060569	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:184060569C>T	uc003foe.3	+	4	689	c.546C>T	c.(544-546)ctC>ctT	p.L182L	FAM131A_uc003foc.3_Silent_p.L97L|FAM131A_uc003fog.3_Silent_p.L151L	NM_144635	NP_001164564	Q6UXB0	F131A_HUMAN	Homo sapiens family with sequence similarity 131, member A (FAM131A), transcript variant 1, mRNA.	151						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)			AAGCCAAGCTCCGAGCATGGT	0.557000														52			14		0	0	0.002450	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431241	117431241	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:117431241G>A	uc003vjf.3	-	3	2101	c.2009C>T	c.(2008-2010)cCc>cTc	p.P670L		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	670										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)		GGCACTAACGGGGTTTATGGA	0.498000														102			29		0	0	0.008361	0	0
OR5H2	79310	broad.mit.edu	37	3	98002605	98002605	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:98002605C>T	uc003dsj.1	+	0	874	c.874C>T	c.(874-876)Ccc>Tcc	p.P292S		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTTGCTAAATCCCATTATCTA	0.328000														45			7		0	0	0.003080	0	0
DSG4	147409	broad.mit.edu	37	18	28968435	28968435	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:28968435G>A	uc002kwr.2	+	3	457	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	DSG4_uc002kwq.2_Missense_Mutation_p.E108K	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	108	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCGCACTGGGGAAATTAACAT	0.398000														30			14		0	0	0.003163	0	0
MAGEE1	57692	broad.mit.edu	37	X	75648791	75648791	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:75648791C>T	uc004ecm.2	+	0	746	c.468C>T	c.(466-468)gcC>gcT	p.A156A		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	156	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		p.A156A(3)		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						CGCCCACCGCCTCTGAGGTAC	0.687000														46			19		0	0	0.007413	0	0
TRHDE	29953	broad.mit.edu	37	12	73015526	73015526	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:73015526G>A	uc001sxa.3	+	14	2565	c.2535G>A	c.(2533-2535)agG>agA	p.R845R		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	845					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						CCAGCAACAGGAACAGGTAAA	0.393000														17			9		0	0	0.008291	0	0
MGAT3	4248	broad.mit.edu	37	22	39884071	39884071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:39884071C>T	uc003axv.4	+	1	958	c.719C>T	c.(718-720)tCc>tTc	p.S240F	MGAT3_uc010gxy.3_Missense_Mutation_p.S240F	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	240					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)					GTGTGCGAGTCCAACTTCACG	0.602000														34			12		0	0	0.000978	0	0
MYCBP2	23077	broad.mit.edu	37	13	77651477	77651477	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:77651477G>A	uc021rks.1	-	66	11797	c.11530C>T	c.(11530-11532)Cca>Tca	p.P3844S	MYCBP2_uc010aev.3_Missense_Mutation_p.P3210S|MYCBP2_uc001vke.3_Missense_Mutation_p.P426S	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	3806	DOC.				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)		TCCCCTCCTGGAAGTTCACTT	0.433000														45			21		0	0	0.010504	0	0
INHA	3623	broad.mit.edu	37	2	220440116	220440116	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:220440116G>A	uc002vmk.2	+	1	1112	c.969G>A	c.(967-969)ggG>ggA	p.G323G		NM_002191	NP_002182	P05111	INHA_HUMAN	Homo sapiens inhibin, alpha (INHA), mRNA.	323					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGCTGCCAGGGGCCCAGCCCT	0.622000														133			65		0	0	0.003610	0	0
HECW1	23072	broad.mit.edu	37	7	43519254	43519254	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:43519254C>T	uc003tid.1	+	16	3750	c.3145C>T	c.(3145-3147)Ccc>Tcc	p.P1049S	HECW1_uc011kbi.1_Missense_Mutation_p.P1015S	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1049	WW 2.				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						TTTCATTGACCCCCGAATCCC	0.517000														79			26		0	0	0.003954	0	0
OR4C13	283092	broad.mit.edu	37	11	49973998	49973998	+	Silent	SNP	A	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:49973998A>T	uc010rhz.2	+	0	56	c.24A>T	c.(22-24)acA>acT	p.T8T		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ACAATGTGACAGAGTTTATTC	0.299000														38			32		0	0	0.002445	0	0
VENTXP7	391518	broad.mit.edu	37	3	21447649	21447649	+	RNA	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:21447649C>T	uc003ccd.3	+	0		c.432C>T								Homo sapiens VENT homeobox pseudogene 7 (VENTXP7), non-coding RNA.																		GTTTCAAAATCGCCGGATGAA	0.577000														8			3		0	0	0.004672	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202883	140202883	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:140202883C>T	uc003lhl.2	+	0	1523	c.1523C>T	c.(1522-1524)tCg>tTg	p.S508L	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.S508L|PCDHAC2_uc003lhj.1_Missense_Mutation_p.S508L	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), 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)			AGTTACGTTTCGGTGCACGCG	0.701000														61			27		0	0	0.005443	0	0
GMIP	51291	broad.mit.edu	37	19	19745420	19745420	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:19745420G>A	uc002nnd.3	-	17	2097	c.1980C>T	c.(1978-1980)acC>acT	p.T660T	GMIP_uc010xrb.2_Silent_p.T634T|GMIP_uc010xrc.2_Silent_p.T631T	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	660	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGGGGCTGGGGGTCCCAGGGT	0.622000														158			54		0	0	0.003610	0	0
RXFP2	122042	broad.mit.edu	37	13	32332520	32332520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:32332520G>A	uc001utt.3	+	1	291	c.220G>A	c.(220-222)Ggg>Agg	p.G74R	RXFP2_uc010aba.3_Missense_Mutation_p.G74R	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	74	LDL-receptor class A.					integral to membrane|plasma membrane		p.G74W(2)|p.N73S(1)		cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTGTGGGAACGGGGCGGACGA	0.512000														89			34		0	0	0.005524	0	0
DDX60L	91351	broad.mit.edu	37	4	169292858	169292858	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:169292858C>T	uc021xuh.1	-	34	4943	c.4833G>A	c.(4831-4833)tgG>tgA	p.W1611*	DDX60L_uc003irq.4_Nonsense_Mutation_p.W1611*	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1611							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)		TATCTAATTTCCATGGCCACA	0.408000														15			11		0	0	0.002450	0	0
MPRIP	23164	broad.mit.edu	37	17	17075095	17075095	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:17075095C>T	uc002gqy.2	+	1	3320	c.2914C>T	c.(2914-2916)Cag>Tag	p.Q972*	MPRIP_uc002gqu.2_Nonsense_Mutation_p.Q743*|MPRIP_uc002gqv.2_Nonsense_Mutation_p.Q743*|MPRIP_uc002gqw.2_Nonsense_Mutation_p.Q498*|MPRIP_uc002gqx.2_Nonsense_Mutation_p.Q972*|MPRIP_uc010cpl.2_5'Flank|MPRIP_uc010cpm.2_5'Flank			Q6WCQ1	MPRIP_HUMAN	Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA.	743						cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TGAAGATCTCCAGAGGCAGCA	0.547000														143			60		0	0	0.003610	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414934	14414934	+	RNA	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:14414934G>A	uc002yiy.3	+	1		c.371G>A			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		CAACTCTGATGAAGGTAAATG	0.393000														32			4		0	0	0.009096	0	0
KRT38	8687	broad.mit.edu	37	17	39597008	39597008	+	Missense_Mutation	SNP	G	A	A	rs148366219		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:39597008G>A	uc002hwq.1	-	0	589	c.166C>T	c.(166-168)Cgt>Tgt	p.R56C		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	56	Head.					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)				GACCCCACACGGACTCGGTTG	0.632000														53			18		0	0	0.007413	0	0
GC	2638	broad.mit.edu	37	4	72622450	72622450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:72622450C>T	uc010iif.3	-	8	1165	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E	GC_uc003hge.3_Missense_Mutation_p.G338E|GC_uc021xpb.1_Missense_Mutation_p.G338E	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	338	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	p.P357P(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TTTGGTGTTTCCTGGATCACA	0.473000														23			5		0	0	0.001168	0	0
ZNF479	90827	broad.mit.edu	37	7	57188158	57188158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:57188158C>T	uc010kzo.3	-	4	1235	c.964G>A	c.(964-966)Gag>Aag	p.E322K		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G321V(1)		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)			CAGGGTTTCTCTCCAGTATGA	0.448000														22			11		0	0	0.004007	0	0
TBK1	29110	broad.mit.edu	37	12	64849723	64849723	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:64849723C>T	uc001ssc.2	+	1	232	c.73C>T	c.(73-75)Cgt>Tgt	p.R25C		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	Homo sapiens TANK-binding kinase 1 (TBK1), mRNA.	25	Protein kinase.				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)		AAATGTCTTTCGTGGAAGACA	0.388000														12			6		0	0	0.001168	0	0
HERC2	8924	broad.mit.edu	37	15	28447305	28447305	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:28447305G>A	uc001zbj.3	-	46	7677	c.7571C>T	c.(7570-7572)tCt>tTt	p.S2524F	HERC2_uc001zbk.1_Missense_Mutation_p.S59F	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2524					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)		CTCCTCGTCAGAATACTCGTC	0.622000														18			10		0	0	0.001368	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22202128	22202128	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:22202128C>T	uc003svg.3	-	12	1169	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	RAPGEF5_uc011jyl.1_5'UTR	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	136					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						TCTGAGTTTTCCTCTTTGCCT	0.348000														36			11		0	0	0.008291	0	0
EGFL6	25975	broad.mit.edu	37	X	13621442	13621442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:13621442G>A	uc004cvj.3	+	4	694	c.407G>A	c.(406-408)aGg>aAg	p.R136K	EGFL6_uc004cvi.3_Missense_Mutation_p.R136K|EGFL6_uc011mik.1_Missense_Mutation_p.R37K	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	136					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						TCAGACTCTAGGACATGTGCC	0.448000														97			30		0	0	0.009535	0	0
EFHA1	221154	broad.mit.edu	37	13	22096766	22096766	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:22096766G>A	uc001uof.3	-	4	558	c.490C>T	c.(490-492)Ctt>Ttt	p.L164F		NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	Homo sapiens EF-hand domain family, member A1 (EFHA1), mRNA.	164							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|skin(2)	13		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		AGCAAGAAAAGATACTCGGTA	0.323000														30			13		0	0	0.004007	0	0
OR52I2	143502	broad.mit.edu	37	11	4608150	4608150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:4608150G>A	uc010qyh.2	+	0	130	c.108G>A	c.(106-108)atG>atA	p.M36I		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	36					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)		ACCACACAATGGAAACCCCTG	0.453000														47			35		0	0	0.006999	0	0
GABRA6	2559	broad.mit.edu	37	5	161113261	161113261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:161113261G>A	uc003lyu.2	+	1	402	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	22					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGGGAAACTCGAAGTTGAAGG	0.478000										TCGA Ovarian(5;0.080)				57			25		0	0	0.004656	0	0
POTEG	404785	broad.mit.edu	37	14	19553664	19553664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:19553664C>T	uc001vuz.1	+	0	300	c.248C>T	c.(247-249)tCt>tTt	p.S83F	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	83										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GTGGGCACTTCTGGAGACCAC	0.592000														209			5		0	0	0.004990	0	0
MUSK	4593	broad.mit.edu	37	9	113550028	113550028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:113550028G>A	uc022blv.1	+	13	1971	c.1837G>A	c.(1837-1839)Gaa>Aaa	p.E613K	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.E524K|MUSK_uc022blu.1_Missense_Mutation_p.E514K	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	613	Protein kinase.				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						GATGCTCAAAGAAGAAGCCTC	0.433000														21			11		0	0	0.008291	0	0
CD163	9332	broad.mit.edu	37	12	7635337	7635337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:7635337G>A	uc001qsz.3	-	13	3277	c.3149C>T	c.(3148-3150)tCc>tTc	p.S1050F	CD163_uc001qta.3_Missense_Mutation_p.S1050F|CD163_uc009zfw.2_Missense_Mutation_p.S1083F	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1050					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						TGCAATAAAGGATGACTGACG	0.423000														43			28		0	0	0.008361	0	0
VPS39	23339	broad.mit.edu	37	15	42470453	42470453	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:42470453A>G	uc001zpd.3	-	10	1107	c.956T>C	c.(955-957)cTc>cCc	p.L319P	VPS39_uc001zpc.3_Missense_Mutation_p.L308P	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	319					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)		CTTGTCCTGGAGAAGTTGTTG	0.438000														26			21		0	0	0.002299	0	0
SHROOM4	57477	broad.mit.edu	37	X	50345782	50345782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:50345782C>T	uc004dpe.2	-	6	3819	c.3793G>A	c.(3793-3795)Ggg>Agg	p.G1265R	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1265	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)					CCTGGGGCCCCTGAAGGAGGC	0.463000														37			25		0	0	0.003954	0	0
ITPR1	3708	broad.mit.edu	37	3	4716799	4716799	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:4716799C>T	uc003bqc.3	+	21	2951	c.2601C>T	c.(2599-2601)ttC>ttT	p.F867F	ITPR1_uc021wsi.1_Silent_p.F882F|ITPR1_uc021wsj.1_Silent_p.F867F|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.	882					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)		TCTACAACTTCTCTGACCTTC	0.368000														35			7		0	0	0.003080	0	0
ACTA1	58	broad.mit.edu	37	1	229568806	229568806	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:229568806C>T	uc001htm.3	-	1	162	c.57G>A	c.(55-57)gtG>gtA	p.V19V		NM_001100	NP_001091	P68133	ACTS_HUMAN	Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA.	19					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)	AGCCGGCTTTCACCAGGCCGG	0.677000														95			22		0	0	0.002780	0	0
NUB1	51667	broad.mit.edu	37	7	151073817	151073817	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:151073817G>A	uc003wjx.3	+	13	1677	c.1661G>A	c.(1660-1662)gGa>gAa	p.G554E	NUB1_uc003wjw.3_Missense_Mutation_p.G516E	NM_001243351	NP_001230280	Q9Y5A7	NUB1_HUMAN	Homo sapiens negative regulator of ubiquitin-like proteins 1 (NUB1), transcript variant 1, mRNA.	530	NEDD8-binding 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GCTCACAACGGAGGAAGCCTG	0.607000														11			4		0	0	0.000602	0	0
TNR	7143	broad.mit.edu	37	1	175375367	175375367	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:175375367C>T	uc001gkp.1	-	0	565	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	TNR_uc009wwu.1_Missense_Mutation_p.E162K|TNR_uc010pmz.1_Missense_Mutation_p.E162K	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	162	Cys-rich.				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)					GCAGCACTTTCTTGGCAGCAG	0.612000														33			25		0	0	0.007291	0	0
abParts	0	broad.mit.edu	37	14	106963192	106963192	+	RNA	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:106963192C>T	uc021ser.1	-	268		c.10538G>A								Parts of antibodies, mostly variable regions.																		CAGTCTTCTTCACCTCAGCCC	0.592000														60			21		0	0	0.010504	0	0
SCN3A	6328	broad.mit.edu	37	2	165952981	165952981	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:165952981C>T	uc002ucx.3	-	23	4781	c.4289G>A	c.(4288-4290)cGa>cAa	p.R1430Q	SCN3A_uc010zcy.2_5'Flank|SCN3A_uc002ucy.3_Missense_Mutation_p.R1381Q|SCN3A_uc002ucz.3_Missense_Mutation_p.R1381Q	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1430						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)	ACTTACATCTCGTGAATCAAC	0.289000														21			6		0	0	0.001984	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247384	142247384	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142247384G>A	uc003vyd.4	-	1	97	c.72C>T	c.(70-72)tcC>tcT	p.S24S	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		TGGGGGTCTGGGAGACTCCAG	0.483000														86			14		0	0	0.004007	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320216	79320216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:79320216G>A	uc010mpk.3	-	7	7098	c.6974C>T	c.(6973-6975)tCc>tTc	p.S2325F	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.S2147F	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2325					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATGGCCTTCGGATAATGTCAG	0.483000														54			25		0	0	0.005443	0	0
ZNF610	162963	broad.mit.edu	37	19	52857061	52857061	+	Splice_Site	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:52857061G>A	uc002pyx.4	+	4	596	c.190_splice	c.e4+1	p.G64_splice	ZNF610_uc002pyy.4_Splice_Site_p.G64_splice|ZNF610_uc002pyz.4_Splice_Site_p.G64_splice|ZNF610_uc002pza.3_Splice_Site_p.G64_splice	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GGTCTTTCTGGGTGAGGATGA	0.507000														86			29		0	0	0.002445	0	0
KCNH8	131096	broad.mit.edu	37	3	19575020	19575020	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:19575020C>T	uc003cbk.1	+	15	2948	c.2753C>T	c.(2752-2754)tCc>tTc	p.S918F	KCNH8_uc010hex.1_Missense_Mutation_p.S379F	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	918						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GTGTGTCCCTCCAGGGAGAGC	0.522000														58			23		0	0	0.002299	0	0
FAM169B	283777	broad.mit.edu	37	15	99023990	99023990	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:99023990T>C	uc002buk.1	-	3	273	c.23A>G	c.(22-24)gAa>gGa	p.E8G		NM_182562	NP_872368	Q8N8A8	F169B_HUMAN	Homo sapiens family with sequence similarity 169, member B (FAM169B), mRNA.	8										large_intestine(3)|lung(3)|urinary_tract(1)	7						CACAACCCTTTCCCCAAACGA	0.373000														27			14		0	0	0.002450	0	0
FLT1	2321	broad.mit.edu	37	13	28896933	28896933	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:28896933C>A	uc001usb.3	-	20	3232	c.2947G>T	c.(2947-2949)Gag>Tag	p.E983*	FLT1_uc010aap.2_5'Flank|FLT1_uc010aaq.2_Nonsense_Mutation_p.E108*|FLT1_uc001usa.3_Nonsense_Mutation_p.E201*	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.	983	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)	CTACCCTCCTCTTCCTCAACA	0.408000														100			37		2.66277e-13	2.71945e-13	0.006999	1	0
DCTN4	51164	broad.mit.edu	37	5	150095183	150095183	+	Silent	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:150095183A>G	uc010jhi.3	-	12	1236	c.1134T>C	c.(1132-1134)gaT>gaC	p.D378D	DCTN4_uc003lsu.3_Silent_p.D314D|DCTN4_uc003lsv.3_Silent_p.D371D	NM_001135643	NP_001129115	Q9UJW0	DCTN4_HUMAN	Homo sapiens dynactin 4 (p62) (DCTN4), transcript variant 1, mRNA.	371						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)			CTGCTGCTGCATCCTTGCCAG	0.498000														45			20		0	0	0.002780	0	0
NEBL	10529	broad.mit.edu	37	10	21129757	21129757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:21129757C>T	uc001iqi.3	-	12	1646	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K	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.	417					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						ATCTCATTTTCCAAATCTTTT	0.343000														27			7		0	0	0.001984	0	0
DDX21	9188	broad.mit.edu	37	10	70737410	70737410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:70737410C>T	uc001jov.1	+	11	1958	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F	DDX21_uc001jow.1_Missense_Mutation_p.S555F	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 (DDX21), mRNA.	623						nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGTGCCACGTCCGTAGACCAG	0.488000														73			25		0	0	0.005443	0	0
TXNRD2	10587	broad.mit.edu	37	22	19865655	19865655	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:19865655G>A	uc021wlj.1	-	15	1436	c.1403C>T	c.(1402-1404)cCc>cTc	p.P468L	TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Missense_Mutation_p.P467L|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqq.1_Missense_Mutation_p.P118L	NM_006440		Q9NNW7	TRXR2_HUMAN	Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.	468					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)					GCCTGCGTTGGGGCCAAGGAA	0.612000														28			11		0	0	0.008291	0	0
IL22RA1	58985	broad.mit.edu	37	1	24448010	24448010	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:24448010G>A	uc001biq.2	-	6	1213	c.1010C>T	c.(1009-1011)cCc>cTc	p.P337L	IL22RA1_uc010oeg.1_Missense_Mutation_p.P269L|IL22RA1_uc009vrb.2_Missense_Mutation_p.P201L|IL22RA1_uc010oeh.2_Missense_Mutation_p.P337L	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	337						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|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;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CACGTTGGAGGGCTGGAGGAT	0.642000														68			30		0	0	0.009535	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19435649	19435649	+	RNA	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:19435649C>T	uc010tcj.1	-	0		c.10461G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TCTATAAAATCCTACCTGACT	0.279000														46			19		0	0	0.010504	0	0
NDUFS2	4720	broad.mit.edu	37	1	161179046	161179046	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:161179046C>A	uc001fyv.3	+	4	905	c.457C>A	c.(457-459)Cta>Ata	p.L153I	NDUFS2_uc010pki.2_Missense_Mutation_p.L55I|NDUFS2_uc001fyw.3_Missense_Mutation_p.L153I|NDUFS2_uc010pkj.2_Missense_Mutation_p.L102I|NDUFS2_uc001fyy.1_3'UTR	NM_004550	NP_004541	O75306	NDUS2_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) (NDUFS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	153					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	GGCCTATTCTCTAGCTGTGGA	0.532000											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		46			24		2.98393e-07	3.0168e-07	0.002780	1	0
LOC399753	399753	broad.mit.edu	37	10	49218327	49218327	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:49218327C>T	uc001jgd.3	-	7	1971	c.1812G>A	c.(1810-1812)ctG>ctA	p.L604L	DQ588224_uc001jge.1_5'Flank					Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		CGTACCAGATCAGGAGCTGCT	0.657000														283			54		0	0	0.003610	0	0
MYOF	26509	broad.mit.edu	37	10	95111581	95111581	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:95111581G>A	uc001kin.3	-	32	3627	c.3504C>T	c.(3502-3504)ttC>ttT	p.F1168F	MYOF_uc001kio.3_Silent_p.F1155F|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1168	C2 4.				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						TCCGATGGAGGAAACAGATAT	0.438000														35			14		0	0	0.004007	0	0
FLG2	388698	broad.mit.edu	37	1	152325811	152325811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:152325811C>T	uc001ezw.4	-	2	4524	c.4451G>A	c.(4450-4452)gGa>gAa	p.G1484E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1484							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)			TGTGGATTTTCCATGATGATA	0.517000														294			340		0	0	0.003610	0	0
EFCAB5	374786	broad.mit.edu	37	17	28417578	28417578	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:28417578A>T	uc002het.3	+	19	4015	c.3823A>T	c.(3823-3825)Atg>Ttg	p.M1275L	EFCAB5_uc010cse.3_Missense_Mutation_p.M1030L|EFCAB5_uc010csf.3_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	1275							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						CCAAAATAGGATGTTGTTGTG	0.433000														108			40		0	0	0.002522	0	0
MCHR2	84539	broad.mit.edu	37	6	100368879	100368879	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:100368879G>A	uc003pqh.1	-	5	1275	c.960C>T	c.(958-960)atC>atT	p.I320I	MCHR2_uc003pqi.1_Silent_p.I320I	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	320						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)		CTCTTCTTTGGATTTGAGGCA	0.423000														37			33		0	0	0.002836	0	0
TSEN2	80746	broad.mit.edu	37	3	12545207	12545207	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:12545207G>A	uc003bxc.3	+	4	1142	c.755G>A	c.(754-756)gGg>gAg	p.G252E	TSEN2_uc003bwz.3_Missense_Mutation_p.G193E|TSEN2_uc003bxa.3_Missense_Mutation_p.G252E|TSEN2_uc011auq.1_Missense_Mutation_p.G252E|TSEN2_uc003bxb.3_Missense_Mutation_p.G252E|TSEN2_uc011aur.1_Missense_Mutation_p.G161E	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	Homo sapiens tRNA splicing endonuclease 2 homolog (S. cerevisiae) (TSEN2), transcript variant 1, mRNA.	252					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						GGGGACAGAGGGCCTGACCAT	0.552000														292			100		0	0	0.003610	0	0
TADA2B	93624	broad.mit.edu	37	4	7056043	7056043	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:7056043C>T	uc003gjw.4	+	1	676	c.525C>T	c.(523-525)atC>atT	p.I175I	TADA2B_uc010idi.3_Silent_p.I100I|TADA2B_uc021xle.1_Silent_p.I83I	NM_152293	NP_689506	Q86TJ2	TAD2B_HUMAN	Homo sapiens transcriptional adaptor 2B (TADA2B), mRNA.	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						ATTACGAGATCGAGTATGACC	0.617000														18			12		0	0	0.000978	0	0
CYFIP1	23191	broad.mit.edu	37	15	22960866	22960866	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:22960866C>T	uc001yus.3	+	17	2163	c.2059C>T	c.(2059-2061)Ctg>Ttg	p.L687L	CYFIP1_uc001yut.3_Silent_p.L687L|CYFIP1_uc010aya.1_Silent_p.L715L|CYFIP1_uc001yuu.3_Silent_p.L256L	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	687					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)		CAAGCAGTTCCTGTACGACGA	0.502000														27			13		0	0	0.002450	0	0
ALB	213	broad.mit.edu	37	4	74275124	74275124	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:74275124C>T	uc003hgs.4	+	4	608	c.535C>T	c.(535-537)Ctt>Ttt	p.L179F	ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Missense_Mutation_p.L69F	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	179	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CCCGGAACTCCTTTTCTTTGC	0.353000														64			18		0	0	0.006122	0	0
MGAM	8972	broad.mit.edu	37	7	141803141	141803141	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:141803141G>A	uc003vwy.3	+	46	5452	c.5398G>A	c.(5398-5400)Gaa>Aaa	p.E1800K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1800	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGGCTACATTGAAATCTGGGG	0.428000														12			5		0	0	0.000602	0	0
ADH4	127	broad.mit.edu	37	4	100057638	100057638	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:100057638C>T	uc003hun.3	-	4	637	c.561G>A	c.(559-561)ggG>ggA	p.G187G	LOC100507053_uc003hum.2_Intron|ADH4_uc011ced.2_Silent_p.G206G	NM_000670	NP_000661	P08319	ADH4_HUMAN	Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA.	187					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)	TGATTGCAGCCCCATAGCCAG	0.393000														53			15		0	0	0.004990	0	0
PCDH15	65217	broad.mit.edu	37	10	55566598	55566598	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:55566598G>A	uc010qhq.2	-	34	5179	c.4784C>T	c.(4783-4785)tCa>tTa	p.S1595L	PCDH15_uc010qhr.2_Missense_Mutation_p.S1590L	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant K, mRNA.	0					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)				TGGCCCCTTTGATAATGTGTT	0.458000										HNSCC(58;0.16)				164			67		0	0	0.003610	0	0
TSPEAR	54084	broad.mit.edu	37	21	45949687	45949687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:45949687G>A	uc002zfe.1	-	4	850	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	TSPEAR_uc010gpv.1_Missense_Mutation_p.P194S	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	262					cell adhesion	extracellular region	structural molecule activity			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						TAACCATAGGGATATTTTAGC	0.642000														70			16		0	0	0.004007	0	0
CACNA1H	8912	broad.mit.edu	37	16	1258083	1258083	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:1258083C>T	uc002cks.3	+	15	3473	c.3225C>T	c.(3223-3225)ccC>ccT	p.P1075P	CACNA1H_uc002ckt.3_Silent_p.P1075P|CACNA1H_uc002cku.3_5'Flank|CACNA1H_uc010brj.3_5'Flank|CACNA1H_uc002ckv.3_5'Flank	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1075					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGTCCCCTCCCCTCATCATGT	0.657000														5			6		0	0	0.001168	0	0
RALGAPB	57148	broad.mit.edu	37	20	37154084	37154084	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:37154084G>A	uc002xiw.3	+	11	2082	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	RALGAPB_uc002xix.3_Missense_Mutation_p.E609K|RALGAPB_uc002xiy.1_Missense_Mutation_p.E609K|RALGAPB_uc002xiz.3_Missense_Mutation_p.E387K|RALGAPB_uc002xja.1_Missense_Mutation_p.E336K	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	609					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						AAATCCAACAGAATTGCGAAG	0.333000														68			23		0	0	0.003954	0	0
SPTB	6710	broad.mit.edu	37	14	65239538	65239538	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:65239538C>T	uc001xht.3	-	24	5364	c.5313G>A	c.(5311-5313)tgG>tgA	p.W1771*	SPTB_uc001xhr.3_Nonsense_Mutation_p.W1771*|SPTB_uc001xhs.3_Nonsense_Mutation_p.W1771*|SPTB_uc001xhu.3_Nonsense_Mutation_p.W1771*|SPTB_uc010aqi.3_Nonsense_Mutation_p.W432*	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1771					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)		GCCCGTCCTTCCACTCGGCGA	0.632000														36			19		0	0	0.001882	0	0
GMEB1	10691	broad.mit.edu	37	1	29040629	29040629	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:29040629C>T	uc001bra.3	+	9	1208	c.1066C>T	c.(1066-1068)Cac>Tac	p.H356Y	GMEB1_uc001bqz.3_Missense_Mutation_p.H346Y|GMEB1_uc001brb.3_Missense_Mutation_p.H346Y	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 1 (GMEB1), transcript variant 1, mRNA.	356					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)		AGGCCAGGATCACAGGCTGAA	0.498000														86			38		0	0	0.009718	0	0
CCDC68	80323	broad.mit.edu	37	18	52605268	52605268	+	Missense_Mutation	SNP	C	T	T	rs4294894		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:52605268C>T	uc002lfs.3	-	4	437	c.265G>A	c.(265-267)Gat>Aat	p.D89N	CCDC68_uc002lft.3_Missense_Mutation_p.D89N	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	89										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		ATAAGCAAATCCAAACTGCAA	0.353000														20			5		0	0	0.000602	0	0
MFSD8	256471	broad.mit.edu	37	4	128864936	128864936	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:128864936A>G	uc003ifp.3	-	4	573	c.410T>C	c.(409-411)gTt>gCt	p.V137A	MFSD8_uc011cgu.2_Missense_Mutation_p.V92A|MFSD8_uc011cgv.1_Missense_Mutation_p.V137A|MFSD8_uc011cgw.1_Non-coding_Transcript|MFSD8_uc011cgx.1_Missense_Mutation_p.V92A	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	Homo sapiens major facilitator superfamily domain containing 8 (MFSD8), mRNA.	137					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						TCCACGAGCAACCAGCATGTA	0.408000														25			8		0	0	0.004482	0	0
PTPRT	11122	broad.mit.edu	37	20	41408889	41408889	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:41408889C>T	uc002xkg.3	-	3	721	c.537G>A	c.(535-537)gtG>gtA	p.V179V	PTPRT_uc010ggj.3_Silent_p.V179V	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	179	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	p.A178A(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)				GGACCTCGTCCACGGCGATGT	0.522000														52			26		0	0	0.004656	0	0
OR10G2	26534	broad.mit.edu	37	14	22102351	22102351	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:22102351G>A	uc010tmc.2	-	0	648	c.648C>T	c.(646-648)ttC>ttT	p.F216F		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	216					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)		GAATTAACATGAAGCAACTGG	0.557000														42			24		0	0	0.002299	0	0
GABRB2	2561	broad.mit.edu	37	5	160757921	160757921	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:160757921T>C	uc003lys.1	-	8	1264	c.1046A>G	c.(1045-1047)aAc>aGc	p.N349S	GABRB2_uc011deh.1_Missense_Mutation_p.N188S|GABRB2_uc003lyr.1_Missense_Mutation_p.N349S|GABRB2_uc003lyt.1_Missense_Mutation_p.N349S|GABRB2_uc021yhg.1_Missense_Mutation_p.N286S	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	349					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)	CTTCTCATTGTTGGCACTGGC	0.488000														93			43		0	0	0.002852	0	0
TTC18	118491	broad.mit.edu	37	10	75082833	75082833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:75082833G>A	uc009xrc.3	-	9	1131	c.1010C>T	c.(1009-1011)tCg>tTg	p.S337L	TTC18_uc001jty.3_Missense_Mutation_p.S337L|TTC18_uc009xrd.1_Missense_Mutation_p.S145L	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	337							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)					ACCATGAAACGAAAGCTGAGC	0.403000														36			23		0	0	0.003954	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204399119	204399119	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:204399119G>A	uc001haw.3	-	29	4807	c.4328C>T	c.(4327-4329)gCc>gTc	p.A1443V	PIK3C2B_uc010pqv.2_Missense_Mutation_p.A1415V	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	1443	PX.				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)			CCGCCGCTCGGCCACCGCCTC	0.657000														24			80		0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166584	140166584	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:140166584G>A	uc003lhb.2	+	0	709	c.709G>A	c.(709-711)Gat>Aat	p.D237N	PCDHAC2_uc003lha.2_Missense_Mutation_p.D237N|PCDHAC2_uc003lgz.3_Missense_Mutation_p.D237N	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	252	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)			CGACGTTAATGATAACGCCCC	0.478000														56			29		0	0	0.009535	0	0
ADAM19	8728	broad.mit.edu	37	5	156915373	156915373	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:156915373T>C	uc003lwz.3	-	20	2529	c.2450A>G	c.(2449-2451)aAc>aGc	p.N817S	ADAM19_uc003lww.2_Missense_Mutation_p.N550S|ADAM19_uc003lwy.3_Missense_Mutation_p.N416S|ADAM19_uc011ddr.1_Missense_Mutation_p.N748S	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	817					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)			CCCTGGGGAGTTCCTAGCAGC	0.652000														66			36		0	0	0.004289	0	0
OR4K2	390431	broad.mit.edu	37	14	20344609	20344609	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:20344609C>T	uc001vwh.1	+	0	183	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F61C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTATGTATTTCCTGCTTACCA	0.403000														96			49		0	0	0.003610	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057600	46057600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:46057600C>T	uc002zfq.3	+	0	328	c.266C>T	c.(265-267)cCc>cTc	p.P89L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA.	89	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						ACCTCCTCCCcctgccagcag	0.637000														87			31		0	0	0.002836	0	0
SLC9C1	285335	broad.mit.edu	37	3	111996694	111996694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:111996694G>A	uc003dyu.3	-	4	554	c.332C>T	c.(331-333)tCa>tTa	p.S111L	SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Missense_Mutation_p.S111L	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	111					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										GCCGGGAATTGAAATTAAAAG	0.303000														40			9		0	0	0.004482	0	0
CRIPT	9419	broad.mit.edu	37	2	46850910	46850910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:46850910C>T	uc002rve.3	+	3	242	c.145C>T	c.(145-147)Cca>Tca	p.P49S		NM_014171	NP_054890	Q9P021	CRIPT_HUMAN	Homo sapiens cysteine-rich PDZ-binding protein (CRIPT), mRNA.	49						cell junction|cytoplasm|dendritic spine				kidney(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TAGATTTGATCCATATGGAAA	0.353000														13			6		0	0	0.001168	0	0
PACSIN1	29993	broad.mit.edu	37	6	34497569	34497569	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:34497569G>A	uc003ojo.3	+	5	997	c.739G>A	c.(739-741)Gag>Aag	p.E247K	PACSIN1_uc003ojp.3_Missense_Mutation_p.E247K	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 1 (PACSIN1), transcript variant 1, mRNA.	247					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CTTCCTCAAGGAGGTGCTGCT	0.572000														21			8		0	0	0.004482	0	0
GPR156	165829	broad.mit.edu	37	3	119887107	119887108	+	Missense_Mutation	DNP	GG	AA	AA	rs113424982		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:119887107_119887108GG>AA	uc011bjf.2	-	8	1596_1597	c.1216_1217CC>TT	c.(1216-1218)ccg>TTg	p.P406L	GPR156_uc011bjg.2_Missense_Mutation_p.P402L	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	406						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GTCCTTGTTCGGGGAAGAGGCA	0.589000														21			24		0	0	0.004672	0	0
CCDC88B	283234	broad.mit.edu	37	11	64122705	64122705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:64122705C>T	uc001nzy.3	+	24	4188	c.4139C>T	c.(4138-4140)tCc>tTc	p.S1380F	CCDC88B_uc001oaa.3_Missense_Mutation_p.P485S|CCDC88B_uc001oab.1_Missense_Mutation_p.S211F|CCDC88B_uc001oac.3_5'UTR	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	1380					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						GCCCAGAGCTCCCTCTGCCTG	0.677000														6			10		0	0	0.001368	0	0
ZNF598	90850	broad.mit.edu	37	16	2050130	2050131	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:2050130_2050131GG>AA	uc002cof.1	-	10	1434_1435	c.1419_1420CC>TT	c.(1417-1422)atccct>atTTct	p.P474S	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	474						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCTCTGGCAGGGATGGCGTACG	0.673000														24			23		0	0	0.004672	0	0
C17orf70	80233	broad.mit.edu	37	17	79508409	79508409	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:79508409C>T	uc002kaq.3	-	7	2513	c.2440G>A	c.(2440-2442)Gag>Aag	p.E814K	C17orf70_uc002kao.1_Missense_Mutation_p.E463K|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Missense_Mutation_p.E663K	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	814					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)			GTGGCCTGCTCTGTCACCATC	0.672000														36			16		0	0	0.007413	0	0
ASTL	431705	broad.mit.edu	37	2	96798415	96798415	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:96798415G>A	uc010yui.2	-	5	501	c.501C>T	c.(499-501)tcC>tcT	p.S167S		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	167					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TGGGCGCCAGGGAGACCACCT	0.647000														67			23		0	0	0.002299	0	0
WWP2	11060	broad.mit.edu	37	16	69965095	69965095	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:69965095C>T	uc002exu.1	+	14	1575	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	WWP2_uc002exv.1_Missense_Mutation_p.R496W|WWP2_uc010vlm.1_Missense_Mutation_p.R380W|WWP2_uc010vln.1_Missense_Mutation_p.R114W|WWP2_uc002exw.1_Missense_Mutation_p.R57W|MIR140_uc002exx.1_5'Flank	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	496					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						CCGCAGTTTTCGGTGGAAGTA	0.488000														85			38		0	0	0.006230	0	0
GRM8	2918	broad.mit.edu	37	7	126173159	126173159	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:126173159C>T	uc003vlr.2	-	7	2588	c.2277G>A	c.(2275-2277)ttG>ttA	p.L759L	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.L759L|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	759					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)	AAGTGACCATCAAGAGGATAC	0.448000										HNSCC(24;0.065)				42			11		0	0	0.000978	0	0
MYH4	4622	broad.mit.edu	37	17	10351250	10351250	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:10351250C>T	uc002gmn.3	-	33	4961	c.4850G>A	c.(4849-4851)aGg>aAg	p.R1617K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1617					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						CTTCTTGATCCTCAGAGCATC	0.463000														122			60		0	0	0.003610	0	0
FLII	2314	broad.mit.edu	37	17	18150582	18150582	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:18150582G>A	uc002gsr.1	-	20	2628	c.2577C>T	c.(2575-2577)ctC>ctT	p.L859L	FLII_uc002gsq.1_Silent_p.L730L|FLII_uc010vxn.1_Silent_p.L828L|FLII_uc010vxo.1_Silent_p.L804L|FLII_uc002gss.1_Silent_p.L858L	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	859					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)					CCTTCCCGGAGAGACCCGGGC	0.617000														60			22		0	0	0.002780	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084174	26084174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:26084174C>T	uc002wvj.4	-	1	297	c.242G>A	c.(241-243)cGa>cAa	p.R81Q						Homo sapiens nuclear receptor corepressor 1 pseudogene 1 (NCOR1P1), non-coding RNA.																		TGCAATTTCTCGATCTACACG	0.363000														23			7		0	0	0.001984	0	0
TRPM8	79054	broad.mit.edu	37	2	234851238	234851238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:234851238G>A	uc002vvh.3	+	5	585	c.545G>A	c.(544-546)gGa>gAa	p.G182E	TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_Missense_Mutation_p.G132E|TRPM8_uc002vvj.3_Missense_Mutation_p.G105E	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	182						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ATTCTCACGGGAGGCACCCAT	0.483000														87			27		0	0	0.005443	0	0
PTCH1	5727	broad.mit.edu	37	9	98232142	98232142	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:98232142T>A	uc004avk.4	-	12	1988	c.1800A>T	c.(1798-1800)ttA>ttT	p.L600F	PTCH1_uc010mro.3_Missense_Mutation_p.L449F|PTCH1_uc010mrp.3_Missense_Mutation_p.L449F|PTCH1_uc010mrq.3_Missense_Mutation_p.L449F|PTCH1_uc004avl.4_Missense_Mutation_p.L449F|PTCH1_uc004avm.4_Missense_Mutation_p.L599F|PTCH1_uc010mrr.3_Missense_Mutation_p.L534F|LOC100507346_uc022bkm.1_Non-coding_Transcript|PTCH1_uc010mrs.1_Missense_Mutation_p.L268F	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	600					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	p.L600fs*22(1)		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)				CGCGTCGATATAAATCCATGC	0.443000														75			36		0	0	0.003755	0	0
MED13	9969	broad.mit.edu	37	17	60033148	60033148	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:60033148A>T	uc002izo.3	-	24	5752	c.5675T>A	c.(5674-5676)cTc>cAc	p.L1892H		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	1892					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						CATGTCTTTGAGCCTTTTACT	0.398000														27			18		0	0	0.007413	0	0
GLRB	2743	broad.mit.edu	37	4	158057699	158057699	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:158057699G>A	uc003ipj.2	+	4	578	c.376G>A	c.(376-378)Gat>Aat	p.D126N	GLRB_uc021xtp.1_Missense_Mutation_p.D126N|GLRB_uc021xtq.1_Missense_Mutation_p.D126N	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	126					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TAGGGGTTCAGATGCACTGAC	0.403000														49			22		0	0	0.001882	0	0
SUPT7L	9913	broad.mit.edu	37	2	27880321	27880321	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:27880321A>G	uc002rli.1	-	3	978	c.635T>C	c.(634-636)tTt>tCt	p.F212S	SUPT7L_uc002rlh.1_Missense_Mutation_p.F212S|SUPT7L_uc010ymf.1_Missense_Mutation_p.F77S|SUPT7L_uc010ezh.1_Missense_Mutation_p.F210S|SUPT7L_uc002rlj.1_Missense_Mutation_p.F210S	NM_014860	NP_055675	O94864	ST65G_HUMAN	Homo sapiens suppressor of Ty 7 (S. cerevisiae)-like (SUPT7L), mRNA.	212					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					CACATCAGGAAAAGGAGTCTG	0.522000														28			9		0	0	0.006214	0	0
C1orf65	164127	broad.mit.edu	37	1	223568625	223568625	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:223568625G>A	uc001hoa.2	+	0	1911	c.1808G>A	c.(1807-1809)aGc>aAc	p.S603N		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	603										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CCTCCCAACAGCTCCCTTGAT	0.582000														67			11		0	0	0.008291	0	0
C2orf71	388939	broad.mit.edu	37	2	29296596	29296596	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:29296596C>T	uc002rmt.2	-	0	532	c.532G>A	c.(532-534)Gag>Aag	p.E178K		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	178					response to stimulus|visual perception	photoreceptor outer segment		p.P177L(1)		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						ACCAGAGGCTCCGGGAAGTCC	0.522000														51			28		0	0	0.007291	0	0
PARM1	25849	broad.mit.edu	37	4	75938248	75938248	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:75938248A>T	uc003hih.2	+	1	910	c.657A>T	c.(655-657)aaA>aaT	p.K219N		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	219					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						CCCAGGAGAAAACACCCCCAA	0.552000														55			19		0	0	0.008871	0	0
SGSM1	129049	broad.mit.edu	37	22	25251015	25251015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:25251015C>T	uc003abg.2	+	5	665	c.508C>T	c.(508-510)Ctt>Ttt	p.L170F	SGSM1_uc010guu.1_Missense_Mutation_p.L170F|SGSM1_uc003abh.2_Missense_Mutation_p.L170F|SGSM1_uc003abj.2_Missense_Mutation_p.L170F|SGSM1_uc003abi.1_Missense_Mutation_p.L145F|SGSM1_uc003abf.2_Missense_Mutation_p.L170F	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	170	RUN.					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						CGGCCCCATCCTTGCATCTTT	0.522000														11			7		0	0	0.004482	0	0
GPR116	221395	broad.mit.edu	37	6	46846023	46846023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:46846023G>A	uc003oyo.3	-	9	1445	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.P386S|GPR116_uc010jzi.1_Missense_Mutation_p.P58S|GPR116_uc003oyr.2_Missense_Mutation_p.P386S	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	386	Ig-like 2.				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)			AAAGATACAGGATTGTTGTCG	0.353000														45			14		0	0	0.003163	0	0
EXPH5	23086	broad.mit.edu	37	11	108380663	108380663	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:108380663G>A	uc001pkk.3	-	5	5682	c.5571C>T	c.(5569-5571)tcC>tcT	p.S1857S	EXPH5_uc010rvz.2_Silent_p.S1701S|EXPH5_uc010rvy.2_Silent_p.S1669S	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1857					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)		TTCCATCACAGGAGGGGAGTT	0.453000														11			21		0	0	0.010504	0	0
PREX2	80243	broad.mit.edu	37	8	69002888	69002888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:69002888G>A	uc003xxv.1	+	19	2215	c.2188G>A	c.(2188-2190)Gag>Aag	p.E730K	PREX2_uc003xxu.1_Missense_Mutation_p.E730K|PREX2_uc011lez.1_Missense_Mutation_p.E665K	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	730	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.E730*(3)|p.E730E(1)		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						TGTCAGCAAAGAGACACATGC	0.468000														46			21		0	0	0.001882	0	0
FZD7	8324	broad.mit.edu	37	2	202900493	202900493	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:202900493G>A	uc002uyw.1	+	0	1184	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K		NM_003507	NP_003498	O75084	FZD7_HUMAN	Homo sapiens frizzled family receptor 7 (FZD7), mRNA.	375					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						CGAGGCCATCGAGGCCAACTC	0.637000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		60			19		0	0	0.001882	0	0
SPTLC1	10558	broad.mit.edu	37	9	94800617	94800617	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:94800617G>A	uc011ltv.1	-	12	1205	c.1167C>T	c.(1165-1167)tcC>tcT	p.S389S	SPTLC1_uc004arl.1_Silent_p.S389S			O15269	SPTC1_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 1 (SPTLC1), transcript variant 1, mRNA.	389						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)	CTGGAGAAAGGGACTCCCCCA	0.473000														54			23		0	0	0.002780	0	0
GPR149	344758	broad.mit.edu	37	3	154055547	154055547	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:154055547C>T	uc003faa.3	-	3	2237	c.2137G>A	c.(2137-2139)Gaa>Aaa	p.E713K		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	713						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)			AACTGGATTTCCTCCTGGTAG	0.423000														171			39		0	0	0.009718	0	0
GTF2H4	2968	broad.mit.edu	37	6	30879243	30879243	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:30879243C>T	uc003nsa.1	+	7	915	c.708C>T	c.(706-708)ttC>ttT	p.F236F	GTF2H4_uc010jsf.2_Silent_p.F236F|GTF2H4_uc011dmv.1_Silent_p.F180F|VARS2_uc003nsc.2_5'Flank|VARS2_uc003nsd.3_5'Flank|VARS2_uc011dmx.2_5'Flank|VARS2_uc011dmy.2_5'Flank|VARS2_uc011dmz.2_5'Flank	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 4, 52kDa (GTF2H4), mRNA.	236					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						TTCTCTCCTTCCTCTTCCAGC	0.542000								Nucleotide excision repair (NER)						70			28		0	0	0.006320	0	0
IFIT2	3433	broad.mit.edu	37	10	91066442	91066443	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:91066442_91066443CC>TT	uc009xts.3	+	1	904_905	c.729_730CC>TT	c.(727-732)gcccca>gcTTca	p.P244S	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 2 (IFIT2), mRNA.	244					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				TGGAGAAAGCCCCAGGTGTAAC	0.436000														44			17		0	0	0.004672	0	0
POLR1A	25885	broad.mit.edu	37	2	86265830	86265830	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:86265830C>T	uc002sqs.3	-	26	4406	c.4027G>A	c.(4027-4029)Gaa>Aaa	p.E1343K	POLR1A_uc010ytb.2_Missense_Mutation_p.E709K|POLR1A_uc002sqt.1_Missense_Mutation_p.E366K	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	1343					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						GACCTTGTTTCCATGAAGCGC	0.532000														25			17		0	0	0.006122	0	0
OTX2	5015	broad.mit.edu	37	14	57271053	57271053	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:57271053G>A	uc001xcq.3	-	3	400	c.126C>T	c.(124-126)acC>acT	p.T42T	OTX2_uc001xcp.3_Silent_p.T34T|OTX2_uc021rtm.1_Intron|OTX2_uc010aou.3_Silent_p.T34T	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	34					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)					GTTTCCGGGGGGTGGCTGCGG	0.637000														33			17		0	0	0.001882	0	0
C17orf97	400566	broad.mit.edu	37	17	263507	263507	+	Silent	SNP	C	T	T	rs71369086		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:263507C>T	uc021tna.1	+	1	889	c.873C>T	c.(871-873)gcC>gcT	p.A291A	C17orf97_uc010vpz.1_Non-coding_Transcript	NM_001013672	NP_001013694	Q6ZQX7	CQ097_HUMAN	Homo sapiens chromosome 17 open reading frame 97 (C17orf97), mRNA.	321	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						ACCCCGAGGCCCTCAAGGGCT	0.667000														39			23		0	0	0.005443	0	0
RXRA	6256	broad.mit.edu	37	9	137320993	137320993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:137320993C>T	uc004cfb.2	+	6	1112	c.950C>T	c.(949-951)tCc>tTc	p.S317F	RXRA_uc004cfc.1_Missense_Mutation_p.S220F	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	317	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	p.R316L(1)		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)	TCCCACCGCTCCATCGCCGTG	0.687000														81			32		0	0	0.004289	0	0
SPARC	6678	broad.mit.edu	37	5	151047122	151047122	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:151047122G>A	uc003lui.3	-	6	596	c.491C>T	c.(490-492)cCc>cTc	p.P164L	SPARC_uc003lug.3_5'UTR	NM_003118	NP_003109	P09486	SPRC_HUMAN	Homo sapiens secreted protein, acidic, cysteine-rich (osteonectin) (SPARC), mRNA.	164					ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	CATGCGCAGGGGGAATTCGGT	0.597000														20			15		0	0	0.004007	0	0
BBS2	583	broad.mit.edu	37	16	56519580	56519580	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:56519580G>A	uc002ejd.2	-	15	2215	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C		NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Homo sapiens Bardet-Biedl syndrome 2 (BBS2), mRNA.	661					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						TTGTTACAGCGAATTTTATAT	0.378000									Bardet-Biedl syndrome					83			33		0	0	0.002445	0	0
FAM86HP	729375	broad.mit.edu	37	3	129830228	129830228	+	RNA	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:129830228G>A	uc011ble.1	-	0		c.49C>T								Homo sapiens family with sequence similarity 86, member H, pseudogene (FAM86HP), non-coding RNA.																		ACCTGCCAGGGGAAGGAGCGC	0.706000														3			4		0	0	0.000602	0	0
OR4K14	122740	broad.mit.edu	37	14	20482700	20482700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:20482700G>A	uc010tky.2	-	0	653	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S218F(2)		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)		CACGGTGTAGGAGATCAGGAG	0.498000														26			4		0	0	0.009096	0	0
DUSP27	92235	broad.mit.edu	37	1	167097243	167097243	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:167097243A>G	uc001geb.1	+	4	2891	c.2875A>G	c.(2875-2877)Aga>Gga	p.R959G		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	959	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						TGGAAGTTCCAGAGGGAAGTA	0.493000														23			25		0	0	0.003954	0	0
GPS2	2874	broad.mit.edu	37	17	7217666	7217666	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:7217666G>A	uc002gfx.1	-	3	653	c.261C>T	c.(259-261)ttC>ttT	p.F87F	GPS2_uc002gfw.1_Silent_p.F49F|GPS2_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_Silent_p.F87F	NM_004489	NP_004480	Q13227	GPS2_HUMAN	Homo sapiens G protein pathway suppressor 2 (GPS2), mRNA.	87					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			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)				TGAGCTGCAGGAAAAGCTGGT	0.478000														109			27		0	0	0.006320	0	0
POTEF	728378	broad.mit.edu	37	2	130832987	130832987	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:130832987C>T	uc010fmh.2	-	16	2458	c.2058G>A	c.(2056-2058)agG>agA	p.R686R		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	686						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						GATTATCATTCCTTTTTTTCA	0.413000														43			18		0	0	0.004990	0	0
NEB	4703	broad.mit.edu	37	2	152566275	152566275	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:152566275C>T	uc021vrb.1	-	9	959	c.930G>A	c.(928-930)agG>agA	p.R310R	NEB_uc002txu.3_Silent_p.R310R|NEB_uc021vrc.1_Silent_p.R310R|NEB_uc010fnx.3_Silent_p.R310R|NEB_uc021vrd.1_Silent_p.R310R|NEB_uc010fny.2_5'Flank	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	310					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)		CCTGGTATTTCCTCTGTAAGA	0.393000														12			4		0	0	0.009096	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95464752	95464752	+	RNA	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:95464752C>T	uc010fhp.3	-	16		c.2638G>A						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						GCCGTAAGATCATCAAACTGC	0.308000														10			6		0	0	0.001984	0	0
SCML2	10389	broad.mit.edu	37	X	18259384	18259384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:18259384C>T	uc004cyl.2	-	14	2247	c.2090G>A	c.(2089-2091)gGa>gAa	p.G697E	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_3'UTR|SCML2_uc011miz.1_3'UTR|SCML2_uc010nfc.2_3'UTR	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	697	SAM.				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					ACTGTATTTTCCTTCTTTAAG	0.338000														57			17		0	0	0.006122	0	0
EFCAB6	64800	broad.mit.edu	37	22	44127674	44127674	+	Missense_Mutation	SNP	T	C	C	rs150224112		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:44127674T>C	uc003bdy.2	-	7	976	c.662A>G	c.(661-663)aAc>aGc	p.N221S	EFCAB6_uc003bdz.2_Missense_Mutation_p.N69S|EFCAB6_uc010gzi.2_Missense_Mutation_p.N69S|EFCAB6_uc010gzk.1_Non-coding_Transcript|EFCAB6_uc011aqa.2_Missense_Mutation_p.N115S|EFCAB6_uc003bea.2_Missense_Mutation_p.N218S|EFCAB6_uc003beb.4_Missense_Mutation_p.N115S	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	221					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)				CTTGTGGATGTTGTAGTGTTT	0.323000														19			9		0	0	0.004482	0	0
TIMM50	92609	broad.mit.edu	37	19	39977088	39977088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:39977088C>T	uc002olu.1	+	7	1091	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	TIMM50_uc002olt.1_Non-coding_Transcript|TIMM50_uc002olv.1_Missense_Mutation_p.R19C	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.	217					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)			CATCTCCTACCGCCTATTCCG	0.582000														71			25		0	0	0.007291	0	0
SGK196	84197	broad.mit.edu	37	8	42977983	42977983	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:42977983G>A	uc003xpw.2	+	4	1275	c.1016G>A	c.(1015-1017)aGa>aAa	p.R339K		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	Homo sapiens protein kinase-like protein SgK196 (SGK196), mRNA.	339	Protein kinase.					integral to membrane	ATP binding|protein kinase activity										GATACACTTAGAGATGCCATG	0.478000														66			29		0	0	0.003271	0	0
SCARF1	8578	broad.mit.edu	37	17	1538487	1538487	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:1538487G>A	uc002fsz.1	-	10	2108	c.2058C>T	c.(2056-2058)ggC>ggT	p.G686G	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Silent_p.G600G	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	686	Gly-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)		TGGTCACAGGGCCCGAGCTCT	0.657000														38			15		0	0	0.004990	0	0
MACROD2	140733	broad.mit.edu	37	20	14066288	14066288	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:14066288C>T	uc002wou.3	+	2	449	c.185C>T	c.(184-186)tCc>tTc	p.S62F	MACROD2_uc002wot.3_Missense_Mutation_p.S62F	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	62	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CAGGAAACATCCCAGGTGAAG	0.308000														10			5		0	0	0.001984	0	0
CLP1	10978	broad.mit.edu	37	11	57426975	57426975	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:57426975G>A	uc001nkw.3	+	1	166	c.27G>A	c.(25-27)aaG>aaA	p.K9K	CLP1_uc010rjw.2_Silent_p.K9K|CLP1_uc009yml.3_Silent_p.K9K	NM_006831	NP_006822	Q92989	CLP1_HUMAN	Homo sapiens CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae) (CLP1), transcript variant 1, mRNA.	9					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|tRNA splicing, via endonucleolytic cleavage and ligation|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription	nucleoplasm|tRNA-intron endonuclease complex	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1)	15						ATGATGACAAGAAGCCAACCA	0.423000														9			10		0	0	0.008291	0	0
SLC26A7	115111	broad.mit.edu	37	8	92378825	92378825	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:92378825G>A	uc003yez.3	+	13	1745	c.1506G>A	c.(1504-1506)gtG>gtA	p.V502V	SLC26A7_uc003yex.3_Silent_p.V502V|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Silent_p.V502V	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	502	STAS.					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)			TGCAGCAGGTGAAAATTATCT	0.323000														34			14		0	0	0.001855	0	0
FTMT	94033	broad.mit.edu	37	5	121188103	121188103	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:121188103G>A	uc003kss.3	+	0	454	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	149	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)		CAAGAAGCCGGAACAGGACGA	0.597000														69			26		0	0	0.006320	0	0
KEL	3792	broad.mit.edu	37	7	142654920	142654920	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142654920G>A	uc003wcb.3	-	5	876	c.666C>T	c.(664-666)gtC>gtT	p.V222V		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	222					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)					TCACCTGGATGACTGGTGTGT	0.527000														87			25		0	0	0.004656	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555292	44555292	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:44555292C>T	uc010xdb.2	-	0	1158	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	308	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						AAAGCAGCTTCCTCCTGGAGC	0.637000														926			19		0	0	0.006122	0	0
NFXL1	152518	broad.mit.edu	37	4	47857177	47857177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:47857177G>A	uc010igh.3	-	19	2497	c.2320C>T	c.(2320-2322)Cct>Tct	p.P774S	NFXL1_uc003gxo.3_Missense_Mutation_p.P99S|NFXL1_uc003gxp.3_Missense_Mutation_p.P774S|NFXL1_uc003gxq.4_Non-coding_Transcript|NFXL1_uc010igi.3_Missense_Mutation_p.P774S	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.	774						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TGACCACAAGGAAGCTAAAAT	0.348000														42			14		0	0	0.004990	0	0
CLCN7	1186	broad.mit.edu	37	16	1498401	1498401	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:1498401G>A	uc002clv.2	-	20	2078	c.1968C>T	c.(1966-1968)tcC>tcT	p.S656S	CLCN7_uc002clu.2_Silent_p.S104S|CLCN7_uc002clw.2_Silent_p.S632S	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	656	CBS 1.					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)				CGTTGTGATTGGACGCCGTGT	0.632000														29			15		0	0	0.003163	0	0
TRHDE	29953	broad.mit.edu	37	12	73012798	73012798	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:73012798G>A	uc001sxa.3	+	12	2344	c.2314G>A	c.(2314-2316)Gaa>Aaa	p.E772K		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	772					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						GGACCGCATGGAAAACTACAA	0.333000														39			8		0	0	0.004482	0	0
MCTP2	55784	broad.mit.edu	37	15	94911016	94911016	+	Missense_Mutation	SNP	G	A	A	rs140445827		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:94911016G>A	uc002btj.3	+	9	1549	c.1484G>A	c.(1483-1485)cGa>cAa	p.R495Q	MCTP2_uc002bti.2_Missense_Mutation_p.R495Q|MCTP2_uc010boj.3_Missense_Mutation_p.R224Q|MCTP2_uc010bok.3_Missense_Mutation_p.R495Q|MCTP2_uc002btk.4_Missense_Mutation_p.R83Q|MCTP2_uc002btl.3_Missense_Mutation_p.R83Q	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	495					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)			ATTACCCAGCGATATGTGAGT	0.448000														38			17		0	0	0.006122	0	0
OR1L1	26737	broad.mit.edu	37	9	125424093	125424093	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:125424093C>T	uc022bmz.1	+	0	99	c.99C>T	c.(97-99)ccC>ccT	p.P33P		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	83					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						TGTTCCTCCCCATCTACCTTA	0.493000														41			25		0	0	0.003330	0	0
SPTB	6710	broad.mit.edu	37	14	65261206	65261206	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:65261206G>A	uc001xht.3	-	11	1825	c.1774C>T	c.(1774-1776)Ctg>Ttg	p.L592L	SPTB_uc001xhr.3_Silent_p.L592L|SPTB_uc001xhs.3_Silent_p.L592L|SPTB_uc001xhu.3_Silent_p.L592L	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	592					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.L592M(2)		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)		GTGAACTTCAGGGTGGCTGCG	0.532000														122			56		0	0	0.003610	0	0
OR2T2	401992	broad.mit.edu	37	1	248616209	248616210	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:248616209_248616210GG>AA	uc001iek.1	+	0	111_112	c.111_112GG>AA	c.(109-114)gtggtg>gtAAtg	p.V38M		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	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)			CCATCTTTGTGGTGGCTATAAC	0.525000														211			35		0	0	0.004672	0	0
MALT1	10892	broad.mit.edu	37	18	56367809	56367809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:56367809C>T	uc002lhm.1	+	3	893	c.635C>T	c.(634-636)cCa>cTa	p.P212L	MALT1_uc002lhn.1_Missense_Mutation_p.P212L	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	212	Ig-like C2-type 2.				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						TGCGACATCCCAGAGAGCTTC	0.373000			T	BIRC3	MALT									22			8		0	0	0.006214	0	0
CCDC106	29903	broad.mit.edu	37	19	56163871	56163871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:56163871G>A	uc002qlr.3	+	5	1337	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	CCDC106_uc021vcc.1_Missense_Mutation_p.R201Q|CCDC106_uc021vcd.1_Missense_Mutation_p.R201Q|CCDC106_uc002qls.3_Missense_Mutation_p.R201Q|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.	201						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)		AGCATGTCGCGGGCCTTCGAG	0.667000														38			20		0	0	0.007413	0	0
MEGF10	84466	broad.mit.edu	37	5	126792946	126792946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:126792946C>T	uc003kuh.4	+	25	3721	c.3359C>T	c.(3358-3360)tCa>tTa	p.S1120L	MEGF10_uc003kui.4_Missense_Mutation_p.S1120L	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	1120	Necessary for formation of large intracellular vacuoles.|Ser-rich.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				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)		CGAGACAGTTCATCCTCCCCT	0.522000														62			27		0	0	0.009535	0	0
NOTCH3	4854	broad.mit.edu	37	19	15289974	15289974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:15289974G>A	uc002nan.3	-	21	3656	c.3580C>T	c.(3580-3582)Ccc>Tcc	p.P1194S	NOTCH3_uc002nao.1_Missense_Mutation_p.P1142S	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1194	EGF-like 30; 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			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)			TATCCTGGGGGACAGGTGCAG	0.662000														17			8		0	0	0.008291	0	0
GRIP2	80852	broad.mit.edu	37	3	14565975	14565975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:14565975C>T	uc021wtn.1	-	4	619	c.619G>A	c.(619-621)Gat>Aat	p.D207N	GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_Missense_Mutation_p.D110N	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	110	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						ATGATCTCATCGTGGCGGAGC	0.597000														6			5		0	0	0.000602	0	0
BRWD3	254065	broad.mit.edu	37	X	79964984	79964984	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:79964984A>T	uc004edt.3	-	20	2681	c.2418T>A	c.(2416-2418)aaT>aaA	p.N806K	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.N635K|BRWD3_uc004edq.3_Missense_Mutation_p.N402K|BRWD3_uc010nmj.2_Missense_Mutation_p.N402K|BRWD3_uc004edr.3_Missense_Mutation_p.N476K|BRWD3_uc004eds.3_Missense_Mutation_p.N402K|BRWD3_uc004edo.3_Missense_Mutation_p.N402K|BRWD3_uc004edu.3_Missense_Mutation_p.N476K|BRWD3_uc004edv.3_Missense_Mutation_p.N402K|BRWD3_uc004edw.3_Missense_Mutation_p.N402K|BRWD3_uc004edx.3_Missense_Mutation_p.N402K|BRWD3_uc004edy.3_Missense_Mutation_p.N402K|BRWD3_uc004edz.3_Missense_Mutation_p.N476K|BRWD3_uc004eea.3_Missense_Mutation_p.N476K|BRWD3_uc004eeb.3_Missense_Mutation_p.N402K	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	806										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						ATGCCTGTGAATTATGCTCTA	0.383000														30			15		0	0	0.006122	0	0
KHDRBS1	10657	broad.mit.edu	37	1	32502640	32502640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:32502640C>T	uc001bub.3	+	4	1007	c.901C>T	c.(901-903)Ccc>Tcc	p.P301S	KHDRBS1_uc001bua.1_Missense_Mutation_p.P262S|KHDRBS1_uc001buc.1_Non-coding_Transcript	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 1 (KHDRBS1), mRNA.	301	Pro-rich.				G2/M transition of mitotic cell cycle|cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCACCTGTTCCCAGGTAAAA	0.493000														49			29		0	0	0.002096	0	0
UNC13C	440279	broad.mit.edu	37	15	54614145	54614145	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:54614145C>T	uc021smr.1	+	11	4271	c.4271C>T	c.(4270-4272)tCa>tTa	p.S1424L	UNC13C_uc021sms.1_Missense_Mutation_p.S1426L|UNC13C_uc002acl.3_Missense_Mutation_p.S256L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1426					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)		AGGCACTTTTCATGTCTGTCT	0.368000														4			4		0	0	0.000602	0	0
ATP2B3	492	broad.mit.edu	37	X	152815137	152815137	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:152815137G>A	uc004fht.1	+	8	1647	c.1521G>A	c.(1519-1521)aaG>aaA	p.K507K	ATP2B3_uc004fhs.1_Silent_p.K507K	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	507					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)					TGACCCCTAAGATCCTCGACC	0.617000														73			25		0	0	0.005443	0	0
TTC21B	79809	broad.mit.edu	37	2	166806199	166806199	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:166806199G>A	uc002udk.3	-	1	190	c.57C>T	c.(55-57)ttC>ttT	p.F19F	TTC21B_uc002udl.3_Silent_p.F19F	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.	19						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						ATACATGATGGAAATATCTCT	0.343000														37			19		0	0	0.006122	0	0
CEP89	84902	broad.mit.edu	37	19	33392208	33392208	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:33392208A>G	uc002nty.3	-	14	1765	c.1676T>C	c.(1675-1677)tTg>tCg	p.L559S	CEP89_uc002ntx.3_Missense_Mutation_p.L312S|CEP89_uc010edg.3_Non-coding_Transcript	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	Homo sapiens centrosomal protein 89kDa (CEP89), mRNA.	559						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						TTGCTCTGTCAAACTGTTCTT	0.418000														72			36		0	0	0.005524	0	0
GRM8	2918	broad.mit.edu	37	7	126173578	126173578	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:126173578C>T	uc003vlr.2	-	7	2169	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.E620K|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	620					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.E620K(2)|p.R619L(1)|p.R619R(1)		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)	TAACTAAGTTCGCGTCCTGAA	0.458000										HNSCC(24;0.065)				40			15		0	0	0.003163	0	0
DST	667	broad.mit.edu	37	6	56374636	56374636	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:56374636C>T	uc003pcy.4	-	54	11055	c.10947G>A	c.(10945-10947)ctG>ctA	p.L3649L		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	6061					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)			CGATGCGTTCCAGGCTCTCAA	0.413000														45			11		0	0	0.000978	0	0
LLGL2	3993	broad.mit.edu	37	17	73566310	73566310	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:73566310C>T	uc002joh.3	+	14	2002	c.1848C>T	c.(1846-1848)caC>caT	p.H616H	LLGL2_uc002joi.3_Silent_p.H616H|LLGL2_uc010dgg.2_Silent_p.H616H|LLGL2_uc002joj.3_Silent_p.H605H|LLGL2_uc010wsd.2_Silent_p.H243H	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	616					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)			TCTTTGACCACCAGCAGCGGC	0.672000														17			4		0	0	0.009096	0	0
DHDDS	79947	broad.mit.edu	37	1	26769298	26769298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:26769298C>T	uc001bmk.3	+	3	407	c.257C>T	c.(256-258)tCc>tTc	p.S86F	DHDDS_uc001bml.3_Missense_Mutation_p.S86F|DHDDS_uc001bmn.3_Missense_Mutation_p.S86F|DHDDS_uc010ofd.2_Missense_Mutation_p.S86F|DHDDS_uc001bmm.3_5'UTR	NM_024887	NP_079163	Q86SQ9	DHDDS_HUMAN	Homo sapiens dehydrodolichyl diphosphate synthase (DHDDS), transcript variant 2, mRNA.	86							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)		TTCAAACGCTCCAAGAGTGAG	0.522000														74			35		0	0	0.005524	0	0
FLG	2312	broad.mit.edu	37	1	152286641	152286641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:152286641C>T	uc001ezu.1	-	2	757	c.721G>A	c.(721-723)Gat>Aat	p.D241N	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	241					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)			TAGGCTTCATCCTGGATTGTG	0.353000									Ichthyosis					89			84		0	0	0.003610	0	0
PIWIL4	143689	broad.mit.edu	37	11	94352941	94352941	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:94352941G>A	uc001pfa.3	+	17	2395	c.2184G>A	c.(2182-2184)gtG>gtA	p.V728V	PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	728	Piwi.				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)				GACTGTCGGTGATTGTGGTCA	0.383000														9			12		0	0	0.002450	0	0
FBXO21	23014	broad.mit.edu	37	12	117627100	117627100	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:117627100G>A	uc001twk.3	-	1	346	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	FBXO21_uc001twj.3_Missense_Mutation_p.R103W|FBXO21_uc009zwq.3_Missense_Mutation_p.R103W	NM_033624	NP_296373	O94952	FBX21_HUMAN	Homo sapiens F-box protein 21 (FBXO21), transcript variant 1, mRNA.	103					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	p.R103W(2)		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)		GCTTTTTGCCGAACTTTATAC	0.478000														72			29		0	0	0.006320	0	0
KCNB2	9312	broad.mit.edu	37	8	73848342	73848342	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:73848342G>A	uc003xzb.3	+	2	1340	c.752G>A	c.(751-753)cGa>cAa	p.R251Q		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	251					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.R251L(2)		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)			TACCTTTTGCGATTCTTATCC	0.448000														62			16		0	0	0.003163	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285055	44285055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:44285055C>T	uc010qfe.1	-	0	811	c.781G>A	c.(781-783)Gga>Aga	p.G261R						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		tcacctcctccataactacct	0.512000														29			18		0	0	0.006122	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50187179	50187179	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:50187179G>A	uc009zlk.2	-	9	3498	c.3296C>T	c.(3295-3297)tCg>tTg	p.S1099L	NCKAP5L_uc001rvc.3_Missense_Mutation_p.S303L|NCKAP5L_uc001rvb.2_Missense_Mutation_p.S692L	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	1095	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCTGTCCTCCGAGGGCATCTC	0.662000														52			23		0	0	0.006320	0	0
AX747991	0	broad.mit.edu	37	19	12799959	12799959	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:12799959G>A	uc002mul.1	+	0	345	c.217G>A	c.(217-219)Gga>Aga	p.G73R	FBXW9_uc010xmp.2_Non-coding_Transcript|FBXW9_uc002mum.1_3'UTR|FBXW9_uc010dyx.2_3'UTR					Homo sapiens cDNA FLJ35888 fis, clone TESTI2009136.																		CCAACATTGGGGATGGTCCCC	0.667000														19			5		0	0	0.001168	0	0
EYA1	2138	broad.mit.edu	37	8	72267066	72267066	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:72267066G>A	uc003xyu.3	-	2	715	c.75C>T	c.(73-75)ctC>ctT	p.L25L	EYA1_uc003xyt.4_Intron|EYA1_uc003xyr.4_Silent_p.L25L|EYA1_uc010lzf.3_5'UTR|EYA1_uc003xys.4_Silent_p.L25L|EYA1_uc011lfe.2_Silent_p.L25L|EYA1_uc003xyv.3_5'UTR	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	25					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)			GAGAGTTACCGAGTTTGGGGC	0.463000														78			35		0	0	0.004289	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43777456	43777456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:43777456C>T	uc010skx.2	-	30	4702	c.4702G>A	c.(4702-4704)Gaa>Aaa	p.E1568K		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1568	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)		TAGACTATTTCATTCACTTGT	0.368000														28			17		0	0	0.004007	0	0
HTR5A	3361	broad.mit.edu	37	7	154876044	154876044	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:154876044C>T	uc003wlu.1	+	1	985	c.921C>T	c.(919-921)atC>atT	p.I307I		NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	307						integral to plasma membrane	serotonin receptor activity	p.I307T(1)		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)		CCGAGCTCATCAGTCCCCTCT	0.582000														149			46		0	0	0.003610	0	0
DSG1	1828	broad.mit.edu	37	18	28923508	28923508	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:28923508C>T	uc002kwp.3	+	11	1995	c.1783C>T	c.(1783-1785)Cat>Tat	p.H595Y	DSG1_uc010xbp.2_5'Flank	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	595					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)			TGGAGCAATTCATTCATGGGC	0.473000														68			30		0	0	0.006320	0	0
VSTM2A	222008	broad.mit.edu	37	7	54612452	54612452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:54612452G>A	uc022adk.1	+	1	622	c.217G>A	c.(217-219)Gat>Aat	p.D73N	VSTM2A_uc010kzf.3_Missense_Mutation_p.D73N	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	73	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GGAGGACCTGGATCCCGGGGC	0.731000														19			7		0	0	0.001984	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475757	140475757	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	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														137			32		0	0	0.002852	0	0
SYBU	55638	broad.mit.edu	37	8	110587670	110587670	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:110587670C>T	uc010mcp.3	-	7	1819	c.1457G>A	c.(1456-1458)cGa>cAa	p.R486Q	SYBU_uc003yni.4_Missense_Mutation_p.R483Q|SYBU_uc003ynk.4_Missense_Mutation_p.R367Q|SYBU_uc003ynj.4_Missense_Mutation_p.R486Q|SYBU_uc010mco.3_Missense_Mutation_p.R485Q|SYBU_uc003ynl.4_Missense_Mutation_p.R485Q|SYBU_uc010mcq.3_Missense_Mutation_p.R486Q|SYBU_uc003yno.4_Missense_Mutation_p.R367Q|SYBU_uc010mcr.3_Missense_Mutation_p.R486Q|SYBU_uc003ynm.4_Missense_Mutation_p.R485Q|SYBU_uc003ynn.4_Missense_Mutation_p.R485Q|SYBU_uc010mcs.3_Missense_Mutation_p.R367Q|SYBU_uc010mct.3_Missense_Mutation_p.R486Q|SYBU_uc010mcu.3_Missense_Mutation_p.R485Q|SYBU_uc003ynp.4_Missense_Mutation_p.R418Q|SYBU_uc010mcv.3_Missense_Mutation_p.R486Q|SYBU_uc003ynh.4_Missense_Mutation_p.R280Q|SYBU_uc011lhw.2_Missense_Mutation_p.R356Q	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	486						Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane		p.Q486H(1)|p.R483L(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CTGAACGGCTCGCTCCACCAC	0.622000														46			9		0	0	0.004482	0	0
FLG2	388698	broad.mit.edu	37	1	152325163	152325163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:152325163C>T	uc001ezw.4	-	2	5172	c.5099G>A	c.(5098-5100)gGa>gAa	p.G1700E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1700							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)			AGTGGTATCTCCTGTCTGTCC	0.488000														204			260		0	0	0.003610	0	0
LRRC49	54839	broad.mit.edu	37	15	71305224	71305224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:71305224C>T	uc010ukf.2	+	13	1996	c.1690C>T	c.(1690-1692)Cgt>Tgt	p.R564C	LRRC49_uc002asu.3_Missense_Mutation_p.R549C|LRRC49_uc002asx.3_Missense_Mutation_p.R515C|LRRC49_uc002asw.3_Missense_Mutation_p.R559C|LRRC49_uc002asy.3_Missense_Mutation_p.R265C|LRRC49_uc002asz.3_Missense_Mutation_p.R531C	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	559						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ACCCCAGTATCGTCTGATTTC	0.363000														65			21		0	0	0.001882	0	0
ZNF716	441234	broad.mit.edu	37	7	57529035	57529035	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:57529035C>T	uc011kdi.1	+	3	980	c.868C>T	c.(868-870)Cat>Tat	p.H290Y		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CAAGAGAATTCATACTGGAGA	0.408000														16			5		0	0	0.000602	0	0
AKAP4	8852	broad.mit.edu	37	X	49957175	49957175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:49957175G>A	uc004dow.1	-	4	2313	c.2189C>T	c.(2188-2190)tCg>tTg	p.S730L	AKAP4_uc004dou.1_Missense_Mutation_p.S721L|AKAP4_uc004dov.1_Missense_Mutation_p.S347L|AKAP4_uc010njp.1_Missense_Mutation_p.S552L	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	730					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)					CTTATTTGCCGAGGCTGCTTG	0.443000														28			15		0	0	0.002450	0	0
GPR112	139378	broad.mit.edu	37	X	135429448	135429448	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:135429448G>A	uc004ezu.1	+	5	3874	c.3583G>A	c.(3583-3585)Gga>Aga	p.G1195R	GPR112_uc010nsb.1_Missense_Mutation_p.G990R|GPR112_uc010nsc.1_Missense_Mutation_p.G962R	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1195					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)					CAGTGGTGGTGGAGTTGTTGC	0.463000														124			50		0	0	0.003610	0	0
ACACA	31	broad.mit.edu	37	17	35609886	35609886	+	Silent	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:35609886A>G	uc002hnm.3	-	14	1983	c.1792T>C	c.(1792-1794)Tta>Cta	p.L598L	ACACA_uc002hnk.3_Silent_p.L520L|ACACA_uc002hnl.3_Silent_p.L540L|ACACA_uc002hnn.3_Silent_p.L598L|ACACA_uc002hno.3_Silent_p.L635L|ACACA_uc010cuz.3_Silent_p.L598L	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	598	Biotin carboxylation.				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)	TCAGTCTCTAACAATTTGATC	0.433000														67			40		0	0	0.006999	0	0
GJA4	2701	broad.mit.edu	37	1	35260571	35260571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:35260571G>A	uc009vul.3	+	1	1009	c.985G>A	c.(985-987)Ggc>Agc	p.G329S	GJA4_uc001bya.3_Missense_Mutation_p.G253S|GJA4_uc009vum.1_Missense_Mutation_p.G253S|GJA4_uc021olb.1_Missense_Mutation_p.G253S	NM_002060	NP_002051	P35212	CXA4_HUMAN	Homo sapiens gap junction protein, alpha 4, 37kDa (GJA4), mRNA.	253					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)				CCCGACCCAGGGCACCTCCTC	0.652000														26			11		0	0	0.000978	0	0
DPP3	10072	broad.mit.edu	37	11	66260348	66260350	+	Missense_Mutation	DNP	TC	CA	CA			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:66260348_66260350TC>CA	uc001oig.1	+	9	1212_1214	c.1150_1152TC>CA	c.(1150-1152)tcc>CA	p.S384del	DPP3_uc001oif.1_Missense_Mutation_p.S384del|DPP3_uc010rpe.1_Missense_Mutation_p.S373del	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	384					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						CTTCGCTGGCTCCGGCATCCCTG	0.611000														40			25		0	0	0.004672	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813439	106813439	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:106813439G>A	uc003ymd.3	+	7	1152	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	ZFPM2_uc011lhs.2_Missense_Mutation_p.E108K	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	377					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)			GACTCAGAGGGAGTTATTGCA	0.507000														113			42		0	0	0.003610	0	0
CPN1	1369	broad.mit.edu	37	10	101814184	101814184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:101814184C>T	uc001kql.2	-	6	1291	c.1031G>A	c.(1030-1032)gGa>gAa	p.G344E		NM_001308	NP_001299	P15169	CBPN_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.	344					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.G344R(1)		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)		AAGCACCATTCCCTTGATGCC	0.413000														66			31		0	0	0.008361	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496664	20496664	+	RNA	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:20496664C>T	uc001ytf.1	+	5		c.717C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		AAGCGCCCGGCTGTGTGTGCT	0.433000														54			4		0	0	0.009096	0	0
ABLIM2	84448	broad.mit.edu	37	4	7985003	7985003	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:7985003C>T	uc003gko.3	-	18	1853	c.1710G>A	c.(1708-1710)cgG>cgA	p.R570R	ABLIM2_uc003gkk.3_Silent_p.R195R|ABLIM2_uc003gkl.3_Silent_p.R298R|ABLIM2_uc003gkm.4_Silent_p.R518R|ABLIM2_uc003gkp.3_Silent_p.R490R|ABLIM2_uc003gkq.3_Silent_p.R531R|ABLIM2_uc003gkr.3_Silent_p.R480R|ABLIM2_uc003gkj.4_Silent_p.R604R|ABLIM2_uc003gki.3_Non-coding_Transcript	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	570	HP.				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						CCAGTCTCGTCCGGTCCACGT	0.597000														12			6		0	0	0.001168	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883860	228883860	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:228883860G>A	uc002vpq.2	-	6	1757	c.1710C>T	c.(1708-1710)gtC>gtT	p.V570V	SPHKAP_uc002vpp.2_Silent_p.V570V|SPHKAP_uc010zlx.1_Silent_p.V570V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	570						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)		CCAGACCACAGACAGCCACGG	0.552000														70			23		0	0	0.003330	0	0
OR9A2	135924	broad.mit.edu	37	7	142723915	142723915	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:142723915G>A	uc003wcc.1	-	0	305	c.305C>T	c.(304-306)tCc>tTc	p.S102F		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GGTCCCACAGGAAAAGTTGAG	0.463000														44			24		0	0	0.002780	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50658708	50658708	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:50658708G>A	uc003bkb.1	-	15	4592	c.4080C>T	c.(4078-4080)acC>acT	p.T1360T	TUBGCP6_uc003bka.1_Silent_p.T447T|TUBGCP6_uc010har.1_Silent_p.T1352T|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	1360					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)		TGTCTCCCGGGGTGTTGGGCC	0.647000														37			14		0	0	0.003163	0	0
PHF16	9767	broad.mit.edu	37	X	46915589	46915589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:46915589G>A	uc004dgx.3	+	9	1600	c.1549G>A	c.(1549-1551)Gaa>Aaa	p.E517K	PHF16_uc004dgy.3_Missense_Mutation_p.E517K	NM_001077445	NP_055550	Q92613	JADE3_HUMAN	Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.	517					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TCTTAACCAAGAAATTGATGC	0.358000														17			9		0	0	0.008291	0	0
PRIC285	85441	broad.mit.edu	37	20	62197209	62197209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:62197209G>A	uc002yfm.2	-	8	3858	c.2966C>T	c.(2965-2967)gCg>gTg	p.A989V	PRIC285_uc002yfl.1_Missense_Mutation_p.A420V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	989	Ala-rich.				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)			CACCACAGCCGCCTGCTCCTC	0.701000														16			4		0	0	0.000602	0	0
ZPLD1	131368	broad.mit.edu	37	3	102175104	102175104	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:102175104G>A	uc003dvt.1	+	3	543	c.443G>A	c.(442-444)gGa>gAa	p.G148E	ZPLD1_uc003dvs.1_Missense_Mutation_p.G132E|ZPLD1_uc011bhg.1_Missense_Mutation_p.G132E	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	132	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						AATATTTCAGGATATATTGAT	0.358000														102			26		0	0	0.003330	0	0
TMEM100	55273	broad.mit.edu	37	17	53798372	53798372	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:53798372C>T	uc002iuj.4	-	1	371	c.60G>A	c.(58-60)acG>acA	p.T20T	TMEM100_uc002iuk.4_Silent_p.T20T|TMEM100_uc021uai.1_Silent_p.T20T	NM_018286	NP_060756	Q9NV29	TM100_HUMAN	Homo sapiens transmembrane protein 100 (TMEM100), transcript variant 2, mRNA.	20						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						TCTTCTCCATCGTCGCTGCCA	0.522000														103			57		0	0	0.003610	0	0
DMBT1	1755	broad.mit.edu	37	10	124358450	124358450	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:124358450C>T	uc001lgk.1	+	25	3223	c.3117C>T	c.(3115-3117)gcC>gcT	p.A1039A	DMBT1_uc001lgl.1_Silent_p.A1029A|DMBT1_uc001lgm.1_Silent_p.A540A|DMBT1_uc021qaf.1_Silent_p.A1039A|DMBT1_uc021qag.1_Silent_p.A1029A|DMBT1_uc021qah.1_Silent_p.A540A|DMBT1_uc009xzz.1_Silent_p.A1039A|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1039	SRCR 8.				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)				GTGGCTGGGCCATGTCAGCCC	0.602000														113			168		0	0	0.003610	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55349114	55349114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:55349114G>A	uc002qhm.1	+	2	200	c.154G>A	c.(154-156)Gat>Aat	p.D52N	KIR3DL2_uc010yfj.2_Missense_Mutation_p.D45N|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.D52N|KIR3DL2_uc002qhn.1_5'UTR	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	147	Ig-like C2-type 1.				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)		ATGTTGGTCGGATGTCATGTT	0.498000														55			95		0	0	0.003610	0	0
MST1P9	11223	broad.mit.edu	37	1	17085053	17085053	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:17085053C>T	uc010ock.2	-	10	1422	c.1422G>A	c.(1420-1422)aaG>aaA	p.K474K	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Silent_p.K48K					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						GATCCACCCTCTTGCCACACT	0.602000														42			4		0	0	0.000602	0	0
PLXND1	23129	broad.mit.edu	37	3	129290360	129290360	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:129290360C>T	uc003emx.2	-	16	3428	c.3328G>A	c.(3328-3330)Gag>Aag	p.E1110K		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1110	IPT/TIG 3.				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						ACCGTGGGCTCCCGGCCAATG	0.647000														50			53		0	0	0.003610	0	0
DNAH1	25981	broad.mit.edu	37	3	52420831	52420831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:52420831C>T	uc011bef.2	+	55	9226	c.8965C>T	c.(8965-8967)Ccg>Tcg	p.P2989S	DNAH1_uc003ddv.3_5'UTR	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2989	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)		GCTGCAGGACCCGGGCCACTT	0.602000														7			4		0	0	0.000602	0	0
TRPM6	140803	broad.mit.edu	37	9	77339623	77339623	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:77339623G>A	uc004ajl.1	-	38	6213	c.5975C>T	c.(5974-5976)tCc>tTc	p.S1992F	TRPM6_uc004ajk.1_Missense_Mutation_p.S1987F|TRPM6_uc022bib.1_Missense_Mutation_p.S1987F|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.S943F|TRPM6_uc010mpd.1_Missense_Mutation_p.S825F|TRPM6_uc010mpe.1_Missense_Mutation_p.S539F|TRPM6_uc004ajj.1_Missense_Mutation_p.S948F	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1992					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						TCCAAAGGTGGAATTTATCCT	0.403000														65			22		0	0	0.003330	0	0
DENND4A	10260	broad.mit.edu	37	15	66048611	66048612	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:66048611_66048612GG>AA	uc002api.3	-	2	562_563	c.177_178CC>TT	c.(175-180)gtccca>gtTTca	p.P60S	DENND4A_uc002aph.3_Missense_Mutation_p.P60S|DENND4A_uc002apj.3_Missense_Mutation_p.P60S|DENND4A_uc010ujj.1_Missense_Mutation_p.P60S	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	60	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						TAATCCTGTGGGACTTCCTCCC	0.371000														11			12		0	0	0.004672	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283250	33283250	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:33283250C>T	uc003oeb.3	-	1	1596	c.1444G>A	c.(1444-1446)Ggg>Agg	p.G482R	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.G482R|ZBTB22_uc021ywm.1_Missense_Mutation_p.G482R	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	482					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						ATCTTATTCCCGTCCCCACTG	0.632000														145			58		0	0	0.003610	0	0
SEMA5A	9037	broad.mit.edu	37	5	9063110	9063110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:9063110C>T	uc003jek.2	-	17	3119	c.2407G>A	c.(2407-2409)Ggc>Agc	p.G803S		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.	803	TSP type-1 5.				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						TTCCGAATGCCCCTGCTGCAG	0.577000														42			20		0	0	0.002299	0	0
PPRC1	23082	broad.mit.edu	37	10	103900286	103900286	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:103900286T>C	uc001kum.3	+	4	2060	c.2021T>C	c.(2020-2022)gTt>gCt	p.V674A	PPRC1_uc001kun.3_Missense_Mutation_p.V554A|PPRC1_uc010qqj.2_Missense_Mutation_p.V674A|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.	674					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)		GTTGACCCTGTTCCTAATGAC	0.557000														54			11		0	0	0.001855	0	0
CSMD2	114784	broad.mit.edu	37	1	34286101	34286101	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:34286101C>T	uc001bxm.1	-	7	1345	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	CSMD2_uc001bxn.1_Missense_Mutation_p.E350K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	350	Sushi 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTGCCCCTTTCGGGTATGCCA	0.458000														147			56		0	0	0.003610	0	0
HEPH	9843	broad.mit.edu	37	X	65486281	65486281	+	Splice_Site	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:65486281G>A	uc011moz.2	+	21	3544	c.3407_splice	c.e21-1	p.A1136_splice	HEPH_uc004dwn.3_Intron|HEPH_uc004dwo.3_Splice_Site_p.A815_splice|HEPH_uc010nkr.3_Splice_Site_p.A893_splice|HEPH_uc011mpa.2_Splice_Site_p.A1085_splice	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	1082					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			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						CTCCATTTCAGCAGTGCCCCC	0.433000														38			21		0	0	0.002299	0	0
BEND4	389206	broad.mit.edu	37	4	42119643	42119643	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:42119643C>T	uc003gwn.3	-	5	2077	c.1497G>A	c.(1495-1497)gcG>gcA	p.A499A	BEND4_uc003gwm.3_3'UTR	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	499										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						AAGTCCCCACCGCCCGCCCCT	0.542000														9			8		0	0	0.004482	0	0
LAMA2	3908	broad.mit.edu	37	6	129498908	129498908	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:129498908G>A	uc021zfb.1	+	9	1469	c.1364G>A	c.(1363-1365)cGg>cAg	p.R455Q	LAMA2_uc003qbn.3_Missense_Mutation_p.R455Q|LAMA2_uc003qbo.3_Missense_Mutation_p.R455Q	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	455	Laminin EGF-like 3.				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)		AGCTGTGATCGGTGTGCCAGG	0.483000														29			12		0	0	0.001368	0	0
IGSF10	285313	broad.mit.edu	37	3	151156282	151156282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:151156282C>T	uc011bod.2	-	5	6067	c.6067G>A	c.(6067-6069)Ggg>Agg	p.G2023R	IGSF10_uc011bob.2_Missense_Mutation_p.G50R|IGSF10_uc011boc.2_Missense_Mutation_p.G2R	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2023	Ig-like C2-type 6.				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)			AGATCATCCCCCATTTTGTTT	0.433000														80			19		0	0	0.006122	0	0
SLC5A5	6528	broad.mit.edu	37	19	17992853	17992853	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:17992853G>A	uc002nhr.4	+	8	1490	c.1143G>A	c.(1141-1143)agG>agA	p.R381R		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	381					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						TGGCACCCAGGAAACTCGTGA	0.582000														45			17		0	0	0.006122	0	0
ODZ3	55714	broad.mit.edu	37	4	183674626	183674626	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:183674626T>A	uc003ivd.1	+	19	3961	c.3886T>A	c.(3886-3888)Tta>Ata	p.L1296I	ODZ3_uc003ive.1_Missense_Mutation_p.L709I	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1296					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)		TAAGAATGGATTAATCTACTT	0.333000														47			21		0	0	0.002299	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870016	151870016	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:151870016G>C	uc022chf.1	+	0	706	c.706G>C	c.(706-708)Gac>Cac	p.D236H	MAGEA6_uc004ffq.1_Missense_Mutation_p.D236H|MAGEA6_uc004ffr.1_Missense_Mutation_p.D236H	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	236	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGGGAAGACAGTATCTT	0.532000														217			87		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179589255	179589255	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179589255G>A	uc021vsy.1	-	68	17340	c.17115C>T	c.(17113-17115)gtC>gtT	p.V5705V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V2366V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6632	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)			TCTCAACAATGACTGCGGGCT	0.468000														30			12		0	0	0.001855	0	0
KLHL5	51088	broad.mit.edu	37	4	39064637	39064637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:39064637C>T	uc003gtr.2	+	0	786	c.503C>T	c.(502-504)tCt>tTt	p.S168F	KLHL5_uc003gtp.3_Missense_Mutation_p.S122F|KLHL5_uc003gtq.3_Intron|KLHL5_uc003gts.3_Missense_Mutation_p.S168F|KLHL5_uc003gtt.3_Missense_Mutation_p.S168F	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.	168						cytoplasm|cytoskeleton	actin binding	p.E167*(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GAAAATGAATCTGATTCCAGT	0.378000														64			29		0	0	0.002096	0	0
MARCO	8685	broad.mit.edu	37	2	119732105	119732105	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:119732105G>A	uc002tln.1	+	5	709	c.577G>A	c.(577-579)Gga>Aga	p.G193R	MARCO_uc010yyf.1_Missense_Mutation_p.G115R	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	193	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.S192W(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						AGGCCCCTCGGGACCCCAAGG	0.542000														40			11		0	0	0.003163	0	0
MOV10L1	54456	broad.mit.edu	37	22	50552093	50552093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:50552093C>T	uc003bjj.3	+	5	843	c.760C>T	c.(760-762)Cat>Tat	p.H254Y	MOV10L1_uc003bjk.4_Missense_Mutation_p.H254Y|MOV10L1_uc011arp.2_Missense_Mutation_p.H234Y|MOV10L1_uc011arq.1_Missense_Mutation_p.H15Y|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.	254					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)		CGCCCCTGTTCATGAGGCCAC	0.507000														49			21		0	0	0.002780	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916467	42916467	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:42916467C>T	uc003cmh.3	-	0	1167	c.842G>A	c.(841-843)tGg>tAg	p.W281*	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	281					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			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)		CTGGGAGGCCCAGAGCATCAT	0.577000														21			10		0	0	0.006214	0	0
HERC1	8925	broad.mit.edu	37	15	63948490	63948490	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:63948490G>A	uc002amp.3	-	48	9815	c.9667C>T	c.(9667-9669)Cga>Tga	p.R3223*		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.	3223					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						CACATTAATCGAACTAGCGTT	0.532000														32			10		0	0	0.006214	0	0
ANGPT1	284	broad.mit.edu	37	8	108315580	108315580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:108315580C>T	uc003ymn.3	-	4	1292	c.824G>A	c.(823-825)gGa>gAa	p.G275E	ANGPT1_uc011lhv.2_Missense_Mutation_p.G75E|ANGPT1_uc003ymo.3_Missense_Mutation_p.G274E|ANGPT1_uc003ymp.4_Missense_Mutation_p.G74E	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	275					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	p.G275E(2)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CTCTCTTTTTCCTCCCTTTAG	0.313000														48			17		0	0	0.001882	0	0
NF1	4763	broad.mit.edu	37	17	29533315	29533315	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:29533315C>T	uc002hgg.3	+	11	1701	c.1318C>T	c.(1318-1320)Cga>Tga	p.R440*	NF1_uc002hge.2_Nonsense_Mutation_p.R440*|NF1_uc002hgf.2_Nonsense_Mutation_p.R440*|NF1_uc002hgh.3_Nonsense_Mutation_p.R440*|NF1_uc010csn.2_Nonsense_Mutation_p.R300*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	440					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(6)|p.R440*(6)|p.R440>?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGTTGAACTTCGAAATATGTT	0.398000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				67			28		0	0	0.008361	0	0
FAM170A	340069	broad.mit.edu	37	5	118969720	118969720	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:118969720G>A	uc003ksm.2	+	2	487	c.277G>A	c.(277-279)Gga>Aga	p.G93R	FAM170A_uc003ksl.2_Missense_Mutation_p.G93R|FAM170A_uc003ksn.3_Missense_Mutation_p.G93R|FAM170A_uc003kso.3_Missense_Mutation_p.G46R	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	93						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TCAGGAACGAGGAGAGACTCC	0.498000														53			20		0	0	0.007413	0	0
KIF1A	547	broad.mit.edu	37	2	241685220	241685220	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:241685220G>A	uc010fzk.3	-	30	3556	c.3309C>T	c.(3307-3309)ttC>ttT	p.F1103F	KIF1A_uc002vzy.3_Silent_p.F1002F|KIF1A_uc002vzz.2_Silent_p.F1103F	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1002					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)		CTGTCACACGGAAGGTGAAGG	0.627000														15			5		0	0	0.001984	0	0
RBP3	5949	broad.mit.edu	37	10	48390122	48390122	+	Silent	SNP	G	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:48390122G>T	uc001jez.3	-	0	870	c.756C>A	c.(754-756)gcC>gcA	p.A252A		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	252	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)	CCACCACGATGGCCCTGCGCA	0.647000														23			11		4.68919e-08	4.7545e-08	0.008291	1	0
GIGYF1	64599	broad.mit.edu	37	7	100283077	100283077	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:100283077G>A	uc003uwg.1	-	9	2091	c.1082C>T	c.(1081-1083)cCt>cTt	p.P361L		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	361										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)					CTCCTCCTGAGGAGGCAGTGG	0.622000														34			9		0	0	0.004482	0	0
CCDC89	220388	broad.mit.edu	37	11	85396579	85396579	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:85396579G>A	uc001pau.1	-	0	742	c.595C>T	c.(595-597)Cag>Tag	p.Q199*		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	Homo sapiens coiled-coil domain containing 89 (CCDC89), mRNA.	199						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CAGGCATCCTGAGCACACCTC	0.612000														60			49		0	0	0.003610	0	0
ACOT9	23597	broad.mit.edu	37	X	23722031	23722031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:23722031C>T	uc004dao.3	-	15	1473	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	ACOT9_uc004dan.3_Missense_Mutation_p.D184N|ACOT9_uc004dap.3_Missense_Mutation_p.D434N|ACOT9_uc011mjt.2_Non-coding_Transcript|ACOT9_uc004dar.3_Missense_Mutation_p.D374N	NM_001037171	NP_001032248	Q9Y305	ACOT9_HUMAN	Homo sapiens acyl-CoA thioesterase 9 (ACOT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	434					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						ACAAGGTAGTCCTTTCTCAAG	0.463000														48			22		0	0	0.001882	0	0
CD86	942	broad.mit.edu	37	3	121822475	121822475	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:121822475G>A	uc003eet.3	+	2	309	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	CD86_uc011bjo.2_5'UTR|CD86_uc011bjp.2_Intron|CD86_uc003eeu.3_Missense_Mutation_p.E55K|CD86_uc021xcz.1_Missense_Mutation_p.E55K	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	61	Ig-like V-type.				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)	GCAGGACCAGGAAAACTTGGT	0.423000														46			48		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9075211	9075211	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:9075211G>A	uc002mkp.3	-	2	12439	c.12235C>T	c.(12235-12237)Ctg>Ttg	p.L4079L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4081	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						AAGTTAGACAGCCTGGTGATG	0.493000														76			23		0	0	0.004656	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	38958	38958	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrGL000218.1:38958C>T	uc011mfn.2	-	4	594	c.505G>A	c.(505-507)Gag>Aag	p.E169K	LOC100233156_uc003jah.2_3'UTR					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TCTCCAGGCTCATGTGGATGT	0.562000														21			4		0	0	0.009096	0	0
GALNT6	11226	broad.mit.edu	37	12	51752919	51752919	+	Silent	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:51752919T>C	uc001ryk.2	-	6	1590	c.1365A>G	c.(1363-1365)caA>caG	p.Q455Q	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Silent_p.Q455Q|GALNT6_uc001ryj.1_Silent_p.Q20Q	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	455					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						CTCTCACCTCTTGGGCCATCT	0.517000														319			4		0	0	0.000602	0	0
RIF1	55183	broad.mit.edu	37	2	152320385	152320385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:152320385C>T	uc002txm.3	+	29	4512	c.4351C>T	c.(4351-4353)Ctt>Ttt	p.L1451F	RIF1_uc002txn.3_Missense_Mutation_p.L1451F|RIF1_uc002txl.3_Missense_Mutation_p.L1451F|RIF1_uc002txo.3_Missense_Mutation_p.L1451F|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.	1451					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)		AGAAAAACCTCTTCAGAAGAG	0.358000														50			20		0	0	0.007413	0	0
MBD5	55777	broad.mit.edu	37	2	149227601	149227601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:149227601C>T	uc002twm.4	+	8	3086	c.2089C>T	c.(2089-2091)Ccc>Tcc	p.P697S	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_Missense_Mutation_p.P138S	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	697						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)		GGGTTCATTTCCCATCAGTTC	0.458000														48			23		0	0	0.002780	0	0
NLRP9	338321	broad.mit.edu	37	19	56243804	56243804	+	Missense_Mutation	SNP	C	T	T	rs146896528		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:56243804C>T	uc002qly.3	-	1	1421	c.1393G>A	c.(1393-1395)Gat>Aat	p.D465N		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	465	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GGGTTAGGATCGTCTTTGGGT	0.483000														127			49		0	0	0.003610	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68704194	68704194	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:68704194C>T	uc001ook.1	+	12	2348	c.2246C>T	c.(2245-2247)tCc>tTc	p.S749F	IGHMBP2_uc001ool.1_Missense_Mutation_p.S373F|IGHMBP2_uc001oom.1_Missense_Mutation_p.S327F	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	749	R3H.				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)			TTTCCTCCTTCCCTCAATTCC	0.587000														17			16		0	0	0.004990	0	0
GPR149	344758	broad.mit.edu	37	3	154139180	154139180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:154139180G>A	uc003faa.3	-	2	1371	c.1271C>T	c.(1270-1272)tCc>tTc	p.S424F		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	424						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)			ATAGAATATGGAATTTTCATC	0.333000														74			27		0	0	0.004656	0	0
CCDC116	164592	broad.mit.edu	37	22	21989287	21989287	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:21989287C>T	uc002zve.3	+	3	1028	c.935C>T	c.(934-936)gCc>gTc	p.A312V	CCDC116_uc011aih.1_Missense_Mutation_p.A312V	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	Homo sapiens coiled-coil domain containing 116 (CCDC116), mRNA.	312										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CTCTTCCCTGCCCTGCAAAGC	0.652000														66			24		0	0	0.002780	0	0
DMD	1756	broad.mit.edu	37	X	31697516	31697516	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:31697516G>A	uc004dda.1	-	52	8092	c.7848C>T	c.(7846-7848)atC>atT	p.I2616I	DMD_uc004dcr.1_Silent_p.I156I|DMD_uc004dcs.1_Silent_p.I156I|DMD_uc004dct.1_Silent_p.I156I|DMD_uc004dcu.1_Silent_p.I156I|DMD_uc004dcv.1_Silent_p.I156I|DMD_uc004dcw.2_Silent_p.I1272I|DMD_uc004dcx.2_Silent_p.I1275I|DMD_uc004dcz.2_Silent_p.I2493I|DMD_uc004dcy.1_Silent_p.I2612I|DMD_uc004ddb.1_Silent_p.I2608I|JA202363_uc022bun.1_5'Flank	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2616					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)				TTTTCTTTTGGATTGCATCTA	0.373000														12			3		0	0	0.009096	0	0
OR10H5	284433	broad.mit.edu	37	19	15905325	15905325	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:15905325G>A	uc010xos.2	+	0	467	c.467G>A	c.(466-468)gGg>gAg	p.G156E		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M155I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TTGGTCATGGGGATGGTGGTG	0.612000														52			24		0	0	0.006320	0	0
SCN7A	6332	broad.mit.edu	37	2	167262984	167262984	+	Silent	SNP	A	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:167262984A>C	uc002udu.2	-	24	4285	c.4155T>G	c.(4153-4155)ctT>ctG	p.L1385L	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.	1385					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						GGAAGATGAGAAGAATGATGT	0.373000														75			15		0	0	0.002450	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433737	69433737	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:69433737G>A	uc021xov.1	-	0	509	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	156					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TCACCACAGGGATTAACGGCA	0.418000														44			77		0	0	0.003610	0	0
CPNE6	9362	broad.mit.edu	37	14	24542791	24542791	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:24542791G>A	uc010tnv.2	+	3	563	c.417G>A	c.(415-417)aaG>aaA	p.K139K	CPNE6_uc001wlm.3_5'UTR|CPNE6_uc001wll.3_Silent_p.K84K|CPNE6_uc001wln.3_5'Flank	NM_006032	NP_006023	O95741	CPNE6_HUMAN	Homo sapiens copine VI (neuronal) (CPNE6), mRNA.	84	C2 2.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		TTGAGGAGAAGCAGCCCCTGC	0.587000														70			26		0	0	0.004656	0	0
abParts	0	broad.mit.edu	37	14	106518494	106518494	+	RNA	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:106518494C>T	uc021ser.1	-	2195		c.39459G>A								Parts of antibodies, mostly variable regions.																		GATGGTGAATCGGCCCTTCAC	0.532000														263			8		0	0	0.001368	0	0
CYP3A43	64816	broad.mit.edu	37	7	99453257	99453257	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:99453257C>T	uc003ury.1	+	7	817	c.714C>T	c.(712-714)atC>atT	p.I238I	CYP3A43_uc003urx.1_Silent_p.I238I|CYP3A43_uc003urz.1_Silent_p.I238I|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Silent_p.I128I|CYP3A43_uc003usb.1_Intron	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	238			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.I238I(2)		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)	CCCTAAATATCGGTTTGTTTC	0.299000														30			9		0	0	0.001855	0	0
NBR1	4077	broad.mit.edu	37	17	41346379	41346379	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:41346379C>T	uc010whv.2	+	12	1620	c.1537C>T	c.(1537-1539)Ctg>Ttg	p.L513L	NBR1_uc010czd.3_Silent_p.L513L|NBR1_uc010diz.3_Silent_p.L513L|NBR1_uc010whu.2_Silent_p.L513L|NBR1_uc010whw.2_Silent_p.L492L|NBR1_uc010whx.1_Silent_p.L322L	NM_005899	NP_114068	Q14596	NBR1_HUMAN	Homo sapiens neighbor of BRCA1 gene 1 (NBR1), transcript variant 1, mRNA.	513					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		AACTTTTCTTCTGGCTAAAGA	0.453000														48			27		0	0	0.009535	0	0
TTC40	54777	broad.mit.edu	37	10	134627675	134627676	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:134627675_134627676CC>TT	uc021qbc.1	-	53	7469_7470	c.7368_7369GG>AA	c.(7366-7371)ctggga>ctAAga	p.G2457R		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	618										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGCTTGCTTCCCAGATGTCCCG	0.584000														14			17		0	0	0.004672	0	0
CRB2	286204	broad.mit.edu	37	9	126128261	126128261	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:126128261C>T	uc004bnx.1	+	2	576	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	CRB2_uc004bnw.1_Silent_p.L162L	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	162	EGF-like 3; 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						GGGCTCGTGCCTGGACGGCGT	0.706000														15			8		0	0	0.004482	0	0
MYH9	4627	broad.mit.edu	37	22	36692960	36692960	+	Silent	SNP	G	A	A	rs144389749		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:36692960G>A	uc003apg.3	-	24	3432	c.3201C>T	c.(3199-3201)ctC>ctT	p.L1067L		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	1067			Missing (in MHA and SBS).		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						TCTGGGCCTGGAGCTCGGCGA	0.682000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					32			19		0	0	0.010504	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138732568	138732568	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:138732568G>A	uc003vun.3	-	12	2869	c.2481C>T	c.(2479-2481)tcC>tcT	p.S827S		NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	827	PARP catalytic.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						AATTTTTGTGGGAATAGATGG	0.338000														61			11		0	0	0.001368	0	0
C5orf42	65250	broad.mit.edu	37	5	37201714	37201714	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:37201714G>A	uc011cpa.1	-	18	3717	c.3486C>T	c.(3484-3486)ccC>ccT	p.P1162P	C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.P237P|C5orf42_uc011cpb.1_Silent_p.P43P	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)			TAGCTGGCTGGGGACAGTACA	0.348000														56			20		0	0	0.008871	0	0
PQLC2	54896	broad.mit.edu	37	1	19653762	19653762	+	Silent	SNP	C	T	T	rs139194294	byFrequency	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:19653762C>T	uc001bby.3	+	7	1012	c.660C>T	c.(658-660)ttC>ttT	p.F220F	PQLC2_uc001bca.3_Silent_p.F220F|PQLC2_uc001bbz.3_Silent_p.F155F|PQLC2_uc001bcb.3_Silent_p.F109F|PQLC2_uc021ohq.1_Non-coding_Transcript	NM_017765	NP_001035215	Q6ZP29	PQLC2_HUMAN	Homo sapiens PQ loop repeat containing 2 (PQLC2), transcript variant 2, mRNA.	220	PQ-loop 2.					integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		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;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCTCTGTTCGCGCTGGTGA	0.617000														32			18		0	0	0.006122	0	0
ANO2	57101	broad.mit.edu	37	12	6030408	6030408	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:6030408C>T	uc001qnm.2	-	2	392	c.320G>A	c.(319-321)gGg>gAg	p.G107E	ANO2_uc021qtt.1_Missense_Mutation_p.G111E	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	111						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						CAGGTGCACCCCGCGTTTCCG	0.597000														26			9		0	0	0.004482	0	0
AV1S4A1N1T	0	broad.mit.edu	37	14	22322245	22322245	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:22322245C>T	uc001wcc.3	+	2	395	c.196C>T	c.(196-198)Ctt>Ttt	p.L66F	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.																		TTTTATACTTCTTGTTTGCTT	0.393000														23			7		0	0	0.003080	0	0
OR4X1	390113	broad.mit.edu	37	11	48286018	48286018	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:48286018C>T	uc010rht.2	+	0	606	c.606C>T	c.(604-606)ggC>ggT	p.G202G		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	202					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						CCAATGGCGGCTCCATCTCCG	0.547000														15			23		0	0	0.002780	0	0
EP300	2033	broad.mit.edu	37	22	41513565	41513566	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:41513565_41513566CC>GT	uc003azl.4	+	1	864_865	c.469_470CC>GT	c.(469-471)cca>GTa	p.P157V		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	157					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						GATGAACAGTCCAGTAAATCAG	0.505000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					34			12		0	0	0.004672	0	0
abParts	0	broad.mit.edu	37	14	106757786	106757786	+	RNA	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:106757786G>A	uc021ser.1	-	749		c.19592C>T								Parts of antibodies, mostly variable regions.																		TTCGTCATTCGAAAAAATGTG	0.532000														57			33		0	0	0.003214	0	0
TFEC	22797	broad.mit.edu	37	7	115596807	115596807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:115596807C>T	uc003vhj.2	-	3	561	c.308G>A	c.(307-309)gGa>gAa	p.G103E	TFEC_uc003vhm.2_Missense_Mutation_p.G36E|TFEC_uc003vhk.2_Missense_Mutation_p.G74E|TFEC_uc003vhl.4_Missense_Mutation_p.G74E|TFEC_uc011kmw.2_Missense_Mutation_p.G193E	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	103	Necessary for transcriptional transactivation.					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)			TGGTGAAATTCCTTGTTCACC	0.333000														53			13		0	0	0.001855	0	0
BEND4	389206	broad.mit.edu	37	4	42145655	42145655	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:42145655G>A	uc003gwn.3	-	2	1424	c.844C>T	c.(844-846)Ctg>Ttg	p.L282L	BEND4_uc003gwm.3_Silent_p.L282L|BEND4_uc011byy.1_Silent_p.L282L	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	282										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GAGGTTGACAGAGGATCCACG	0.527000														17			11		0	0	0.008291	0	0
SCN11A	11280	broad.mit.edu	37	3	38912214	38912214	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:38912214C>T	uc021wvy.1	-	21	3980	c.3781G>A	c.(3781-3783)Gat>Aat	p.D1261N		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1261					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)	TATATAATATCCATCCAGCCC	0.403000														47			14		0	0	0.003163	0	0
SPTAN1	6709	broad.mit.edu	37	9	131346163	131346163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:131346163C>T	uc004bvl.4	+	15	2250	c.2108C>T	c.(2107-2109)tCg>tTg	p.S703L	SPTAN1_uc011mbg.2_Missense_Mutation_p.S703L|SPTAN1_uc011mbh.2_Missense_Mutation_p.S715L|SPTAN1_uc004bvm.4_Missense_Mutation_p.S703L|SPTAN1_uc004bvn.4_Missense_Mutation_p.S703L	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	703					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	p.S703S(1)		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						CACTTGGCTTCGGATGATTAC	0.448000														61			16		0	0	0.004007	0	0
GABRG1	2565	broad.mit.edu	37	4	46060539	46060539	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:46060539C>T	uc003gxb.3	-	5	878	c.726G>A	c.(724-726)ggG>ggA	p.G242G		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	242					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)		AGTTCCGTAACCCTACAAATG	0.333000														27			8		0	0	0.006214	0	0
YSK4	80122	broad.mit.edu	37	2	135741291	135741291	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:135741291G>A	uc002tue.1	-	7	3208	c.3177C>T	c.(3175-3177)atC>atT	p.I1059I	YSK4_uc002tuf.1_Silent_p.I241I|YSK4_uc010fnc.1_Silent_p.I241I|YSK4_uc010fnd.1_Silent_p.I946I|YSK4_uc010zbg.1_Intron|YSK4_uc021vpz.1_5'Flank|YSK4_uc002tuh.4_Silent_p.I787I|YSK4_uc002tui.4_Silent_p.I1076I	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	1059							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)		TGGTCCATAGGATAGGTTCTT	0.433000														57			19		0	0	0.001882	0	0
MUC16	94025	broad.mit.edu	37	19	9083269	9083269	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:9083269G>A	uc002mkp.3	-	0	8750	c.8546C>T	c.(8545-8547)cCt>cTt	p.P2849L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2849	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						GGGCTTCACAGGTATCCCTTT	0.537000														19			11		0	0	0.008291	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142593624	142593624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:142593624C>T	uc011dbj.2	+	21	2362	c.2327C>T	c.(2326-2328)tCg>tTg	p.S776L	ARHGAP26_uc003lmt.3_Missense_Mutation_p.S721L|ARHGAP26_uc003lmw.3_Missense_Mutation_p.S684L	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	776	SH3.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity	p.S776L(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGAACTTTCGTTCACAGCA	0.483000														15			6		0	0	0.001984	0	0
ANKLE1	126549	broad.mit.edu	37	19	17394615	17394615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:17394615G>A	uc010xpn.1	+	4	1318	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	ANKLE1_uc010xpm.1_Non-coding_Transcript|ANKLE1_uc002nga.2_Missense_Mutation_p.E348K|ANKLE1_uc010eao.1_Missense_Mutation_p.E370K|ANKLE1_uc002nfy.2_Missense_Mutation_p.E337K|ANKLE1_uc002nfz.2_Missense_Mutation_p.E54K			Q8NAG6	ANKL1_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 1 (ANKLE1), mRNA.	348						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						AGGTGGCAGGGAACCTGTCGG	0.582000														39			12		0	0	0.001368	0	0
GPC5	2262	broad.mit.edu	37	13	92560288	92560288	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:92560288G>A	uc010tif.2	+	5	1744	c.1378G>A	c.(1378-1380)Gat>Aat	p.D460N		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	460						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)				TCAGATTATTGATAAACTGAA	0.328000														29			7		0	0	0.003080	0	0
NREP	9315	broad.mit.edu	37	5	111066701	111066701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:111066701C>T	uc011cvr.2	-	3	448	c.256G>A	c.(256-258)Gat>Aat	p.D86N	NREP_uc011cvs.2_Missense_Mutation_p.D76N|LOC100505678_uc021ych.1_Intron|NREP_uc003kpk.3_Intron|NREP_uc003kpl.3_Missense_Mutation_p.D42N|NREP_uc003kpm.3_Missense_Mutation_p.D42N|NREP_uc011cvk.2_Missense_Mutation_p.D42N|NREP_uc011cvl.2_Missense_Mutation_p.D42N|NREP_uc011cvm.2_Missense_Mutation_p.D42N|NREP_uc011cvn.2_Missense_Mutation_p.D42N|NREP_uc011cvo.2_Missense_Mutation_p.D42N|NREP_uc011cvp.2_Missense_Mutation_p.D42N|NREP_uc011cvq.2_Missense_Mutation_p.D42N	NM_001142475	NP_001135947	Q16612	NP311_HUMAN	Homo sapiens neuronal regeneration related protein homolog (rat) (NREP), transcript variant 3, mRNA.	42						cytoplasm											TTTGTCTCATCGTTCTTCTTG	0.478000														41			21		0	0	0.008871	0	0
TMED3	23423	broad.mit.edu	37	15	79614517	79614517	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:79614517C>T	uc002beu.3	+	2	716	c.615C>T	c.(613-615)ttC>ttT	p.F205F	TMED3_uc010unj.1_Intron|TMED3_uc002bev.3_Non-coding_Transcript	NM_007364	NP_031390	Q9Y3Q3	TMED3_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 3 (TMED3), mRNA.	205					protein transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane				large_intestine(3)|lung(4)|ovary(1)|skin(1)	9						AAAGCTTCTTCACAGAAAAAC	0.557000														58			33		0	0	0.002836	0	0
KLHL6	89857	broad.mit.edu	37	3	183245701	183245701	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:183245701A>T	uc003flr.3	-	1	449	c.391T>A	c.(391-393)Tac>Aac	p.Y131N	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Missense_Mutation_p.Y129N	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	131	BTB.									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)			TTGCTGGTGTACGTGTAGTCC	0.493000														35			35		0	0	0.003271	0	0
MYH3	4621	broad.mit.edu	37	17	10555849	10555849	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:10555849G>A	uc002gmq.2	-	3	324	c.236C>T	c.(235-237)gCc>gTc	p.A79V		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	79	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.Y78Y(1)		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						GGGGTTCATGGCGTACACATC	0.473000														81			43		0	0	0.002852	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106066667	106066667	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:106066667C>T	uc004emo.3	+	4	963	c.798C>T	c.(796-798)gtC>gtT	p.V266V	MORC4_uc004emp.4_Intron|TBC1D8B_uc004emm.3_Silent_p.V266V|TBC1D8B_uc004emn.3_Silent_p.V266V	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	266						intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATGACCCAGTCCTTTATAATC	0.323000														71			31		0	0	0.009535	0	0
SLC25A47	283600	broad.mit.edu	37	14	100793639	100793639	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:100793639G>C	uc001yhc.3	+	3	332	c.259G>C	c.(259-261)Ggc>Cgc	p.G87R	SLC25A47_uc001yhd.3_5'UTR	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	Homo sapiens solute carrier family 25, member 47 (SLC25A47), nuclear gene encoding mitochondrial protein, mRNA.	87					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.G87S(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GCTCCGGTACGGCAACCCTGA	0.692000														55			25		0	0	0.008361	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354929	45354929	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:45354929C>T	uc002xsl.3	+	1	1351	c.1254C>T	c.(1252-1254)gtC>gtT	p.V418V		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	418						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)				GCCTGATGGTCTTTGTCAGTG	0.632000														28			10		0	0	0.000978	0	0
OR8J1	219477	broad.mit.edu	37	11	56128589	56128589	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:56128589G>A	uc010rjh.2	+	0	899	c.867G>A	c.(865-867)ttG>ttA	p.L289L		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	289					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)					TGAATCCCTTGATCTACAGCC	0.388000														34			15		0	0	0.003163	0	0
COL5A2	1290	broad.mit.edu	37	2	189910627	189910627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:189910627G>A	uc002uqk.3	-	45	3483	c.3208C>T	c.(3208-3210)Cgt>Tgt	p.R1070C	COL5A2_uc010frx.3_Missense_Mutation_p.R646C	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1070					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)			GGGTCTCCACGATCACCCTAA	0.443000														52			17		0	0	0.004990	0	0
DNAH9	1770	broad.mit.edu	37	17	11790187	11790187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:11790187G>A	uc002gne.3	+	56	11085	c.11017G>A	c.(11017-11019)Gag>Aag	p.E3673K	DNAH9_uc010coo.3_Missense_Mutation_p.E2967K|DNAH9_uc002gnf.3_5'UTR|DNAH9_uc010vvh.1_Missense_Mutation_p.E26K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3673					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.E3673K(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)		CGAGGCCCGAGAGCACTACCG	0.527000														43			21		0	0	0.010504	0	0
GDF9	2661	broad.mit.edu	37	5	132199880	132199880	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:132199880G>A	uc003kxz.1	-	0	598	c.346C>T	c.(346-348)Ctc>Ttc	p.L116F	GDF9_uc011cxj.1_Missense_Mutation_p.L28F|UQCRQ_uc003kya.1_5'Flank	NM_005260	NP_005251	O60383	GDF9_HUMAN	Homo sapiens growth differentiation factor 9 (GDF9), mRNA.	116					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.R115W(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)			GGGGTGAAGAGCCGAACAGTG	0.483000														80			25		0	0	0.002780	0	0
PDZD2	23037	broad.mit.edu	37	5	32010572	32010572	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:32010572C>T	uc003jhl.3	+	5	1779	c.1391C>T	c.(1390-1392)tCt>tTt	p.S464F	PDZD2_uc003jhm.3_Missense_Mutation_p.S464F|PDZD2_uc011cnx.1_Missense_Mutation_p.S290F	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	464					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.S463Y(1)|p.S463C(1)|p.S463N(1)		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						GGAACCAGCTCTTCTGTCCAG	0.517000														40			19		0	0	0.006122	0	0
DZANK1	55184	broad.mit.edu	37	20	18377153	18377153	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:18377153A>G	uc010zsa.2	-	14	1840	c.1631T>C	c.(1630-1632)gTt>gCt	p.V544A	DZANK1_uc010zrz.2_Missense_Mutation_p.V63A|DZANK1_uc002wqp.4_Missense_Mutation_p.V235A|DZANK1_uc002wqr.4_Non-coding_Transcript|DZANK1_uc002wqs.4_Missense_Mutation_p.V411A|DZANK1_uc002wqq.4_Missense_Mutation_p.V525A	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	Homo sapiens double zinc ribbon and ankyrin repeat domains 1 (DZANK1), mRNA.	352						intracellular	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						TCTGATGCTAACTTCACAACC	0.378000														65			25		0	0	0.005443	0	0
VCP	7415	broad.mit.edu	37	9	35068289	35068289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:35068289C>T	uc003zvy.2	-	1	477	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	VCP_uc010mkh.1_5'UTR|VCP_uc010mki.1_5'UTR	NM_007126	NP_009057	P55072	TERA_HUMAN	Homo sapiens valosin containing protein (VCP), mRNA.	30					ER-associated protein catabolic process|activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TTGATGGCTTCATCAACAATT	0.453000														113			117		0	0	0.003610	0	0
ARID2	196528	broad.mit.edu	37	12	46298784	46298784	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:46298784C>T	uc001ros.1	+	20	5431	c.5431C>T	c.(5431-5433)Ctt>Ttt	p.L1811F	ARID2_uc009zkg.1_Missense_Mutation_p.L1267F|ARID2_uc009zkh.1_Missense_Mutation_p.L1438F|ARID2_uc001rou.1_3'UTR	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1811					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)		TTCCTCCACCCTTGCCAAATG	0.353000			"""N, S, F"""		hepatocellular carcinoma									32			8		0	0	0.003080	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713324	70713324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:70713324C>T	uc010ttg.2	-	0	1195	c.544G>A	c.(544-546)Gat>Aat	p.D182N						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		AATTCTTCATCATGCTGCATA	0.403000														150			36		0	0	0.003755	0	0
SLC10A2	6555	broad.mit.edu	37	13	103703631	103703631	+	Missense_Mutation	SNP	C	T	T	rs138811603		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:103703631C>T	uc001vpy.4	-	3	1334	c.737G>A	c.(736-738)aGa>aAa	p.R246K		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	246					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACCAGCAATTCTAGCCAGAAG	0.423000														43			18		0	0	0.007413	0	0
KIAA1210	57481	broad.mit.edu	37	X	118223410	118223410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:118223410C>T	uc004era.4	-	10	1783	c.1783G>A	c.(1783-1785)Gag>Aag	p.E595K		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	595								p.E419Q(1)|p.E595Q(1)		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						GTAGGCTGCTCCATGTTGTCC	0.493000														59			22		0	0	0.001882	0	0
C17orf53	78995	broad.mit.edu	37	17	42225865	42225865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:42225865C>T	uc002ifi.2	+	2	931	c.694C>T	c.(694-696)Cct>Tct	p.P232S	C17orf53_uc010czq.2_Missense_Mutation_p.P232S|C17orf53_uc002ifj.2_Missense_Mutation_p.P232S|C17orf53_uc002ifk.1_Non-coding_Transcript	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA.	232										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GTCTCTAGATCCTGTCATCCA	0.552000														109			51		0	0	0.003610	0	0
FAM19A4	151647	broad.mit.edu	37	3	68802049	68802049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:68802049G>A	uc021xag.1	-	3	744	c.251C>T	c.(250-252)gCg>gTg	p.A84V	FAM19A4_uc021xah.1_Missense_Mutation_p.A84V	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 (FAM19A4), transcript variant 1, mRNA.	84						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		AGTTGTGCCCGCCACCTGTCC	0.542000														44			23		0	0	0.005443	0	0
SLC5A8	160728	broad.mit.edu	37	12	101581202	101581202	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:101581202C>T	uc001thz.4	-	6	1315	c.925G>A	c.(925-927)Gat>Aat	p.D309N		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	309					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						GTCCAAGGATCACAGTCATGG	0.433000														25			11		0	0	0.001368	0	0
LCT	3938	broad.mit.edu	37	2	136566496	136566496	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:136566496C>T	uc002tuu.1	-	7	3432	c.3421G>A	c.(3421-3423)Gaa>Aaa	p.E1141K		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1141	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)		TCAGCGGCTTCCACATCTCTG	0.552000														49			36		0	0	0.003271	0	0
BTG1	694	broad.mit.edu	37	12	92537991	92537991	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:92537991G>A	uc001tby.3	-	1	743	c.381C>T	c.(379-381)gcC>gcT	p.A127A	BTG1_uc001tbv.1_5'Flank|BTG1_uc001tbw.1_5'Flank|BTG1_uc001tbx.1_5'Flank|BTG1_uc009zss.1_5'Flank|BC044741_uc001tca.3_5'Flank	NM_001731	NP_001722	P62324	BTG1_HUMAN	Homo sapiens B-cell translocation gene 1, anti-proliferative (BTG1), mRNA.	127					cell migration|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of endothelial cell differentiation|positive regulation of myoblast differentiation|regulation of apoptosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|transcription cofactor activity			haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(1)|lung(2)	16		Acute lymphoblastic leukemia(6;3.02e-13)|all_hematologic(6;4.32e-09)				CTGCTGGTGAGGCTTCATACA	0.512000			T	MYC	BCLL						OREG0022024	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		75			30		0	0	0.008361	0	0
LRRC18	474354	broad.mit.edu	37	10	50121667	50121667	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:50121667G>A	uc001jhd.3	-	0	614	c.534C>T	c.(532-534)ccC>ccT	p.P178P	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Silent_p.P178P	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	178						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GCTTTGGAAAGGGGTTCCGCT	0.512000														41			12		0	0	0.000978	0	0
STRA6	64220	broad.mit.edu	37	15	74473253	74473253	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:74473253C>T	uc002axj.3	-	17	2187	c.1827G>A	c.(1825-1827)ttG>ttA	p.L609L	STRA6_uc002axi.3_Silent_p.L379L|STRA6_uc010ulh.2_Silent_p.L608L|STRA6_uc002axk.3_Silent_p.L570L|STRA6_uc002axl.3_Silent_p.L502L|STRA6_uc010bji.3_Silent_p.L570L|STRA6_uc021sqg.1_Silent_p.L585L|STRA6_uc002axm.3_Silent_p.L570L|STRA6_uc002axn.3_Silent_p.L561L|STRA6_uc010uli.2_Silent_p.L607L	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN	Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.	570					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						CTTCAATCTTCAAGAAGTTTC	0.612000														80			30		0	0	0.002096	0	0
TMEM61	199964	broad.mit.edu	37	1	55452017	55452017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:55452017C>T	uc001cyd.3	+	1	537	c.263C>T	c.(262-264)tCc>tTc	p.S88F		NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN	Homo sapiens transmembrane protein 61 (TMEM61), mRNA.	88						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						CTGCTGTGGTCCGTCAAGGCC	0.637000														101			56		0	0	0.003610	0	0
SOGA1	140710	broad.mit.edu	37	20	35443545	35443545	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:35443545A>G	uc021wcx.1	-	4	2640	c.2300T>C	c.(2299-2301)cTt>cCt	p.L767P	SOGA1_uc002xgd.1_Missense_Mutation_p.L529P	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	529										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GTCTGAGCCAAGGTCTTTTGC	0.488000														127			49		0	0	0.003610	0	0
DRD3	1814	broad.mit.edu	37	3	113858383	113858383	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:113858383A>C	uc003ebd.2	-	5	1110	c.687T>G	c.(685-687)agT>agG	p.S229R	DRD3_uc010hqn.1_Missense_Mutation_p.S229R|DRD3_uc003ebb.1_Missense_Mutation_p.S229R|DRD3_uc003ebc.1_Missense_Mutation_p.S229R	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	229					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)	TGTTGCACTGACTGTTCTGTC	0.532000														144			45		0	0	0.003610	0	0
LRP2	4036	broad.mit.edu	37	2	170090079	170090079	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:170090079G>A	uc002ues.3	-	29	5153	c.4940C>T	c.(4939-4941)gCc>gTc	p.A1647V		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1647					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)	GAGAGTTAGGGCATAGGGGTG	0.488000														29			15		0	0	0.006122	0	0
CCDC167	154467	broad.mit.edu	37	6	37452896	37452896	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:37452896C>T	uc003ont.3	-	1	178	c.117G>A	c.(115-117)cgG>cgA	p.R39R		NM_138493	NP_612502	Q9P0B6	CF129_HUMAN	Homo sapiens coiled-coil domain containing 167 (CCDC167), mRNA.	39						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						GGCTCAGCTCCCGGCTGTGGA	0.622000														27			42		0	0	0.002522	0	0
SLC17A8	246213	broad.mit.edu	37	12	100813733	100813733	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:100813733C>T	uc010svi.2	+	11	1879	c.1566C>T	c.(1564-1566)atC>atT	p.I522I	SLC17A8_uc009ztx.3_Silent_p.I472I	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.	522					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						AATGTGGAATCATTGACCAGG	0.473000														31			13		0	0	0.001368	0	0
RHBDL1	9028	broad.mit.edu	37	16	727794	727795	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:727794_727795GG>AA	uc002cis.1	+	6	1086_1087	c.1059_1060GG>AA	c.(1057-1062)gtgggc>gtAAgc	p.G354S	RHBDL1_uc002cir.1_Missense_Mutation_p.G289S|RHBDL1_uc010uun.1_3'UTR|STUB1_uc002cit.3_5'Flank|STUB1_uc002ciu.3_5'Flank	NM_003961	NP_003952	O75783	RHBL1_HUMAN	Homo sapiens rhomboid, veinlet-like 1 (Drosophila) (RHBDL1), mRNA.	354					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity	p.G354C(2)		endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				GCTCCGAGGTGGGCCGGGCCGT	0.748000														9			3		0	0	0.004672	0	0
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:106820975C>T	uc001tlp.3	+	13	1324	c.1102_splice	c.e13-1	p.L368_splice	POLR3B_uc001tlq.3_Splice_Site_p.L310_splice	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	368					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.L368F(4)		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						TTTTTTTTAGCTTTTATCTCT	0.274000														0			3		0	0	0.009096	0	0
KDR	3791	broad.mit.edu	37	4	55964401	55964401	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:55964401G>A	uc003has.3	-	16	2714	c.2412C>T	c.(2410-2412)atC>atT	p.I804I	KDR_uc003hat.1_Silent_p.I804I	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	804					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)	GATCCATGACGATGGACAAGT	0.483000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				33			17		0	0	0.004990	0	0
SPERT	220082	broad.mit.edu	37	13	46287907	46287908	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:46287907_46287908CC>TT	uc001van.1	+	2	827_828	c.747_748CC>TT	c.(745-750)ctcctc>ctTTtc	p.L250F	SPERT_uc001vao.2_Missense_Mutation_p.L214F	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	250						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)		CCCTGCAGCTCCTCCGGGAGGA	0.673000														16			5		0	0	0.004672	0	0
DUSP9	1852	broad.mit.edu	37	X	152914786	152914786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:152914786C>T	uc004fhx.4	+	2	677	c.473C>T	c.(472-474)cCc>cTc	p.P158L	DUSP9_uc004fhy.4_Missense_Mutation_p.P158L	NM_001395	NP_001386	Q99956	DUS9_HUMAN	Homo sapiens dual specificity phosphatase 9 (DUSP9), mRNA.	158					JNK cascade|inactivation of MAPK activity	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTCCAGTGCCCGTGGTGGGG	0.677000														35			10		0	0	0.006214	0	0
OR8J1	219477	broad.mit.edu	37	11	56127902	56127902	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:56127902C>T	uc010rjh.2	+	0	212	c.180C>T	c.(178-180)taC>taT	p.Y60Y		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M59I(1)		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)					CCCCCATGTACTTTTTCCTGC	0.448000														41			43		0	0	0.002852	0	0
HERC2P9	440248	broad.mit.edu	37	15	28929412	28929412	+	RNA	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:28929412A>G	uc010azc.3	+	13		c.2117A>G								Homo sapiens hect domain and RLD 2 pseudogene 9 (HERC2P9), non-coding RNA.																		GTTGTTGTGGAAATTCAATTT	0.478000														31			5		0	0	0.001168	0	0
TRANK1	9881	broad.mit.edu	37	3	36897937	36897937	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:36897937C>T	uc003cgj.3	-	11	3392	c.3144G>A	c.(3142-3144)aaG>aaA	p.K1048K		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1048					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						CGTGGAATTTCTTCCACAATC	0.532000														37			13		0	0	0.001368	0	0
ALDH3A1	218	broad.mit.edu	37	17	19646547	19646547	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:19646547G>A	uc002gwk.3	-	1	405	c.142C>T	c.(142-144)Cag>Tag	p.Q48*	ALDH3A1_uc010cqu.3_Missense_Mutation_p.A131V|ALDH3A1_uc010vzd.2_Missense_Mutation_p.A131V|ALDH3A1_uc002gwj.3_Missense_Mutation_p.A131V|ALDH3A1_uc010cqv.3_Missense_Mutation_p.A131V|ALDH3A1_uc002gwl.1_Missense_Mutation_p.A58V			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	334					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)	CCATGCACCTGCAGCGATGGC	0.642000														18			12		0	0	0.002450	0	0
KCMF1	56888	broad.mit.edu	37	2	85262196	85262196	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:85262196C>T	uc002sox.4	+	2	586	c.242C>T	c.(241-243)cCc>cTc	p.P81L		NM_020122	NP_064507	Q9P0J7	KCMF1_HUMAN	Homo sapiens potassium channel modulatory factor 1 (KCMF1), mRNA.	81						intracellular	ligase activity|zinc ion binding			ovary(3)	3						TTTACTTGTCCCTATTGTGGA	0.383000														21			11		0	0	0.008291	0	0
SOX3	6658	broad.mit.edu	37	X	139586695	139586695	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:139586695C>T	uc004fbd.1	-	0	531	c.531G>A	c.(529-531)tgG>tgA	p.W177*		NM_005634	NP_005625	P41225	SOX3_HUMAN	Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA.	177					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	p.W177*(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					TCAGCAGTTTCCAGTCGGCGC	0.602000														55			25		0	0	0.004656	0	0
CACNA1E	777	broad.mit.edu	37	1	181767606	181767606	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:181767606C>T	uc009wxt.3	+	47	6773	c.6578C>T	c.(6577-6579)tCc>tTc	p.S2193F	CACNA1E_uc001gow.3_Missense_Mutation_p.S2150F|CACNA1E_uc009wxs.3_Missense_Mutation_p.S2131F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2193					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						GAGGAGGGCTCCCCGCTGACC	0.647000														62			37		0	0	0.004289	0	0
S100A8	6279	broad.mit.edu	37	1	153362584	153362584	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:153362584C>T	uc001fbs.3	-	2	447	c.277G>A	c.(277-279)Gag>Aag	p.E93K		NM_002964	NP_002955	P05109	S10A8_HUMAN	Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA.	93				VAAHKKSHEESHKE -> WQPTKKAMKKATKSS (in Ref. 1; CAA68390).	chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	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)			CTCAGCTACTCTTTGTGGCTT	0.473000														174			29		0	0	0.008361	0	0
PVRL3	25945	broad.mit.edu	37	3	110852551	110852551	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:110852551T>C	uc003dxt.2	+	5	1398	c.1139T>C	c.(1138-1140)cTa>cCa	p.L380P	PVRL3_uc003dxu.2_Intron|PVRL3_uc021xch.1_3'UTR	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	Homo sapiens poliovirus receptor-related 3 (PVRL3), transcript variant 1, mRNA.	380					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						ATCGAGGATCTAGCAACAGAA	0.448000														67			20		0	0	0.007413	0	0
PTCHD1	139411	broad.mit.edu	37	X	23411622	23411622	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:23411622G>A	uc004dal.4	+	2	1995	c.1987G>A	c.(1987-1989)Gat>Aat	p.D663N		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	663					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						AGAACTCTATGATCTCTTGGA	0.433000														40			15		0	0	0.004007	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48869597	48869597	+	Splice_Site	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:48869597G>A	uc002rwp.2	+	6	2529	c.2415_splice	c.e6+1	p.L805_splice	STON1-GTF2A1L_uc021vhf.1_Splice_Site_p.L805_splice|STON1-GTF2A1L_uc010yol.2_Intron|STON1-GTF2A1L_uc002rws.2_Splice_Site_p.L101_splice|STON1-GTF2A1L_uc010yom.2_Splice_Site_p.L67_splice	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	786					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)			AGCAGAACTGGTATGTAGCTT	0.348000														9			5		0	0	0.000602	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407431	1407431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:1407431C>T	uc010nct.2	+	5	561	c.239C>T	c.(238-240)tCg>tTg	p.S80L	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.S80L|CSF2RA_uc004cpq.2_Missense_Mutation_p.S80L|CSF2RA_uc004cpn.2_Missense_Mutation_p.S80L|CSF2RA_uc004cpo.2_Missense_Mutation_p.S80L|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Missense_Mutation_p.S80L|CSF2RA_uc010ncv.2_Missense_Mutation_p.S80L|CSF2RA_uc004cpr.2_Missense_Mutation_p.S80L	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	80						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	AACGAATGTTCGTGCACATTT	0.443000														210			82		0	0	0.003610	0	0
CNTRL	11064	broad.mit.edu	37	9	123911110	123911110	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:123911110G>A	uc004bkx.1	+	21	3651	c.3620G>A	c.(3619-3621)aGt>aAt	p.S1207N	CNTRL_uc004bky.1_Missense_Mutation_p.S811N|CNTRL_uc004bla.1_Missense_Mutation_p.S655N|CNTRL_uc010mvo.1_5'UTR	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	1207					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						CCCATCAGGAGTGGGTTACAT	0.458000														31			9		0	0	0.008291	0	0
APOB	338	broad.mit.edu	37	2	21229833	21229833	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:21229833C>T	uc002red.3	-	25	10035	c.9907G>A	c.(9907-9909)Gag>Aag	p.E3303K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3303					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.E3303*(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)	ACTGGCAGCTCTAATGATGGC	0.443000														403			158		0	0	0.003610	0	0
C15orf2	23742	broad.mit.edu	37	15	24923034	24923034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:24923034C>T	uc001ywo.3	+	0	2494	c.2020C>T	c.(2020-2022)Cct>Tct	p.P674S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	674					cell differentiation|multicellular organismal development|spermatogenesis			p.P674H(1)		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)		TCCCATCATTCCTCCTCCAGA	0.512000														118			62		0	0	0.003610	0	0
IGBP1	3476	broad.mit.edu	37	X	69354582	69354582	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:69354582C>T	uc004dxv.3	+	1	897	c.398C>T	c.(397-399)tCt>tTt	p.S133F	IGBP1_uc004dxw.3_Missense_Mutation_p.S133F	NM_001551	NP_001542	P78318	IGBP1_HUMAN	Homo sapiens immunoglobulin (CD79A) binding protein 1 (IGBP1), mRNA.	133					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						ATGAACAACTCTGCTGAAAAT	0.443000														51			28		0	0	0.005443	0	0
ZC3H12D	340152	broad.mit.edu	37	6	149795614	149795614	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:149795614C>T	uc010kid.3	-	1	336	c.66G>A	c.(64-66)cgG>cgA	p.R22R	ZC3H12D_uc003qmn.1_Silent_p.R22R	NM_207360	NP_997243	A2A288	ZC12D_HUMAN	Homo sapiens zinc finger CCCH-type containing 12D (ZC3H12D), mRNA.	22						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		TGCCCAACACCCGGAGCACAT	0.682000														4			3		0	0	0.009096	0	0
BAI2	576	broad.mit.edu	37	1	32207058	32207058	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:32207058G>A	uc001btn.3	-	10	2064	c.1710C>T	c.(1708-1710)ctC>ctT	p.L570L	BAI2_uc010ogo.2_Silent_p.L212L|BAI2_uc010ogp.2_Silent_p.L503L|BAI2_uc010ogq.2_Silent_p.L570L|BAI2_uc001bto.3_Silent_p.L570L|BAI2_uc001btq.1_Silent_p.L503L|BAI2_uc010ogr.1_Intron	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	570					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)		GGGCACTGAGGAGACAGCGGC	0.632000														9			4		0	0	0.009096	0	0
PNPLA7	375775	broad.mit.edu	37	9	140395161	140395161	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:140395161G>A	uc010ncj.1	-	15	2076	c.1739C>T	c.(1738-1740)tCc>tTc	p.S580F	PNPLA7_uc011mfa.1_Intron|PNPLA7_uc004cnf.2_Missense_Mutation_p.S555F	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	555					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)		GTGGGCCTTGGAGATGGACAG	0.697000														31			13		0	0	0.001855	0	0
TDRD6	221400	broad.mit.edu	37	6	46657203	46657203	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:46657203C>T	uc003oyj.3	+	0	1592	c.1338C>T	c.(1336-1338)gtC>gtT	p.V446V	TDRD6_uc010jze.3_Silent_p.V446V	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	446					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)			CTGACCGAGTCCTTCAGAGCC	0.478000														47			24		0	0	0.002780	0	0
ADAM29	11086	broad.mit.edu	37	4	175898067	175898067	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:175898067T>C	uc003iuc.3	+	4	2061	c.1391T>C	c.(1390-1392)cTt>cCt	p.L464P	ADAM29_uc003iud.3_Missense_Mutation_p.L464P|ADAM29_uc010irr.3_Missense_Mutation_p.L464P|ADAM29_uc011cki.2_Missense_Mutation_p.L464P|ADAM29_uc021xuo.1_Missense_Mutation_p.L464P	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	464	Disintegrin.				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)		GAATGTGATCTTCCAGAGTGG	0.453000														66			30		0	0	0.007291	0	0
SCO1	6341	broad.mit.edu	37	17	10590109	10590109	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:10590109G>A	uc002gmr.4	-	4	767	c.706C>T	c.(706-708)Caa>Taa	p.Q236*		NM_004589	NP_004580	O75880	SCO1_HUMAN	Homo sapiens SCO cytochrome oxidase deficient homolog 1 (yeast) (SCO1), nuclear gene encoding mitochondrial protein, mRNA.	236					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						CTGGCCACTTGATCGACCTCT	0.433000														89			42		0	0	0.002852	0	0
LPPR2	64748	broad.mit.edu	37	19	11474442	11474442	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:11474442C>T	uc002mrf.2	+	7	1195	c.819C>T	c.(817-819)ctC>ctT	p.L273L	LPPR2_uc002mre.2_Silent_p.L298L|LPPR2_uc010dxy.2_Silent_p.L105L	NM_001170635	NP_001164106	Q96GM1	LPPR2_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 2 (LPPR2), transcript variant 2, mRNA.	298						integral to membrane	phosphatidate phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	6						GCCGAAGGCTCTCTCCCTGGG	0.632000														51			16		0	0	0.008871	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433613	72433613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:72433613C>T	uc004ebi.3	-	0	1098	c.716G>A	c.(715-717)gGa>gAa	p.G239E		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	239					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					ATCAGGAATTCCCTTAGGATC	0.398000														43			15		0	0	0.004990	0	0
TRHR	7201	broad.mit.edu	37	8	110131616	110131616	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:110131616C>T	uc003ymz.4	+	1	1218	c.1129C>T	c.(1129-1131)Ctg>Ttg	p.L377L		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	377						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)			TGACACTTACCTGTCTGCCAC	0.423000														74			24		0	0	0.003330	0	0
SYNE1	23345	broad.mit.edu	37	6	152772238	152772238	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:152772238G>A	uc021zhb.1	-	23	3353	c.3130C>T	c.(3130-3132)Cga>Tga	p.R1044*	SYNE1_uc003qot.4_Nonsense_Mutation_p.R1051*|SYNE1_uc003qou.4_Nonsense_Mutation_p.R1044*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.R1027*|SYNE1_uc003qow.3_Nonsense_Mutation_p.R339*|SYNE1_uc003qox.1_Nonsense_Mutation_p.R560*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1044					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)		TTGGTCTCTCGATCCAGCTCA	0.463000										HNSCC(10;0.0054)				40			57		0	0	0.003610	0	0
RELN	5649	broad.mit.edu	37	7	103207118	103207118	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:103207118G>A	uc022ajr.1	-	31	4837	c.4677C>T	c.(4675-4677)atC>atT	p.I1559I	RELN_uc022ajq.1_Silent_p.I1559I|RELN_uc010liz.3_Silent_p.I1559I	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1559					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)		CAATGGAAATGATCTGTGGTT	0.473000														41			13		0	0	0.002450	0	0
ATXN1	6310	broad.mit.edu	37	6	16328529	16328529	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:16328529G>A	uc003nbt.3	-	7	984	c.13C>T	c.(13-15)Caa>Taa	p.Q5*	ATXN1_uc010jpi.3_Nonsense_Mutation_p.Q5*|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	5					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)				CTCCGCTCTTGGTTGGATTTC	0.557000														29			12		0	0	0.001368	0	0
ELF4	2000	broad.mit.edu	37	X	129203628	129203628	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:129203628C>T	uc004evd.4	-	7	1219	c.834G>A	c.(832-834)ctG>ctA	p.L278L	ELF4_uc004eve.4_Silent_p.L278L	NM_001421	NP_001412	Q99607	ELF4_HUMAN	Homo sapiens E74-like factor 4 (ets domain transcription factor) (ELF4), transcript variant 1, mRNA.	278					NK T cell proliferation|natural killer cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCACTTTGGCCAGTATGCCTC	0.557000			T	ERG	AML									101			28		0	0	0.008361	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913741	77913741	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:77913741C>T	uc022bzi.1	-	0	177	c.177G>A	c.(175-177)aaG>aaA	p.K59K	ZCCHC5_uc004edc.1_Silent_p.K59K	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	59							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TCTGGGGCTCCTTGGCCTCTG	0.572000														30			15		0	0	0.004007	0	0
BDKRB2	624	broad.mit.edu	37	14	96707205	96707205	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:96707205G>A	uc010avm.1	+	2	736	c.540G>A	c.(538-540)gtG>gtA	p.V180V	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Silent_p.V153V|BDKRB2_uc001yfg.2_Silent_p.V180V	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	180					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		ACAGCTTGGTGATCTGGGGGT	0.607000														61			27		0	0	0.005443	0	0
FOXN1	8456	broad.mit.edu	37	17	26862111	26862111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:26862111G>A	uc010crm.3	+	7	1720	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	FOXN1_uc002hbj.3_Missense_Mutation_p.E508K	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	508					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)					GCTACTGGCCGAGCCTTCCCC	0.652000														31			14		0	0	0.002450	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204433169	204433169	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:204433169C>T	uc001haw.3	-	5	1760	c.1281G>A	c.(1279-1281)aaG>aaA	p.K427K	PIK3C2B_uc010pqv.2_Silent_p.K427K|PIK3C2B_uc001hax.1_Silent_p.K427K|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	427					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)			GCCCGCAGGGCTTTAGCACAA	0.547000														206			38		0	0	0.007835	0	0
SHQ1	55164	broad.mit.edu	37	3	72799687	72799687	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:72799687G>A	uc003dpf.3	-	10	1589	c.1482C>T	c.(1480-1482)ccC>ccT	p.P494P	SHQ1_uc010hod.3_Silent_p.P405P	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	Homo sapiens SHQ1 homolog (S. cerevisiae) (SHQ1), mRNA.	494					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)		CTTCAAGAAAGGGACCTTGCA	0.473000														68			19		0	0	0.006122	0	0
UNC13C	440279	broad.mit.edu	37	15	54307826	54307826	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:54307826C>T	uc021smr.1	+	0	2726	c.2726C>T	c.(2725-2727)tCa>tTa	p.S909L	UNC13C_uc021sms.1_Missense_Mutation_p.S909L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	909					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)		GATCACCTTTCATATGAAACA	0.378000														65			21		0	0	0.001882	0	0
SH3GLB2	56904	broad.mit.edu	37	9	131777080	131777081	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:131777080_131777081GT>AA	uc004bww.3	-	3	583_584	c.437_438AC>TT	c.(436-438)aac>aTT	p.N146I	SH3GLB2_uc004bwv.3_Missense_Mutation_p.N146I	NM_020145	NP_064530	Q9NR46	SHLB2_HUMAN	Homo sapiens SH3-domain GRB2-like endophilin B2 (SH3GLB2), mRNA.	146	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	SH3 domain binding|cytoskeletal adaptor activity			NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						CCTCCAGGAAGTTGCGCAAGGG	0.564000														76			30		0	0	0.004672	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:29625941A>T	uc010ztl.1	+	1	127	c.95A>T	c.(94-96)gAt>gTt	p.D32V	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.D62V(2)|p.A32T(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000														54			6		0	0	0.001984	0	0
TSC22D2	9819	broad.mit.edu	37	3	150127378	150127379	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:150127378_150127379CC>TT	uc003exv.3	+	0	591_592	c.241_242CC>TT	c.(241-243)ccc>TTc	p.P81F	TSC22D2_uc003exw.3_Non-coding_Transcript|TSC22D2_uc003exx.3_Missense_Mutation_p.P81F	NM_014779	NP_055594	O75157	T22D2_HUMAN	Homo sapiens TSC22 domain family, member 2 (TSC22D2), mRNA.	81							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGCGGAGACTCCCGGGACCGTC	0.634000														31			9		0	0	0.004672	0	0
SCAF8	22828	broad.mit.edu	37	6	155152088	155152088	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:155152088G>T	uc003qqa.3	+	19	2405	c.2173G>T	c.(2173-2175)Gaa>Taa	p.E725*	TIAM2_uc003qqb.3_5'Flank|SCAF8_uc011efj.2_Nonsense_Mutation_p.E791*|SCAF8_uc011efk.2_Nonsense_Mutation_p.E770*|SCAF8_uc003qpz.3_Nonsense_Mutation_p.E725*|SCAF8_uc010kji.3_Nonsense_Mutation_p.E746*	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN	Homo sapiens SR-related CTD-associated factor 8 (SCAF8), mRNA.	725	Pro-rich.				RNA splicing|mRNA processing	nuclear matrix|spliceosomal complex	RNA binding|RNA polymerase core enzyme binding|nucleotide binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CATGACACCGGAAACTGTGAA	0.408000														41			19		2.39187e-15	2.44752e-15	0.008871	1	0
PGD	5226	broad.mit.edu	37	1	10477453	10477453	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:10477453C>T	uc001arc.3	+	9	1086	c.996C>T	c.(994-996)atC>atT	p.I332I	PGD_uc010oak.2_Silent_p.I310I	NM_002631	NP_002622	P52209	6PGD_HUMAN	Homo sapiens phosphogluconate dehydrogenase (PGD), mRNA.	332					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)		CTTCCAAGATCATCTCTTACG	0.507000														73			65		0	0	0.003610	0	0
TRPC4	7223	broad.mit.edu	37	13	38320349	38320349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:38320349G>A	uc010abx.3	-	2	857	c.622C>T	c.(622-624)Ctc>Ttc	p.L208F	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Missense_Mutation_p.L208F|TRPC4_uc001uws.3_Missense_Mutation_p.L208F|TRPC4_uc010tey.2_Missense_Mutation_p.L208F|TRPC4_uc010abw.3_Intron|TRPC4_uc010aby.3_Missense_Mutation_p.L208F	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	208					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)		AGTGCAATGAGAGAGGGACTG	0.498000														51			12		0	0	0.000978	0	0
CRISP1	167	broad.mit.edu	37	6	49808679	49808679	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:49808679G>A	uc003ozw.2	-	5	544	c.465C>T	c.(463-465)ggC>ggT	p.G155G	CRISP1_uc003ozx.2_Silent_p.G155G|CRISP1_uc021zaj.1_Silent_p.G155G	NM_001131	NP_001192149	P54107	CRIS1_HUMAN	Homo sapiens cysteine-rich secretory protein 1 (CRISP1), transcript variant 1, mRNA.	155					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)					CAATGGCACAGCCAATCAGGT	0.328000														23			9		0	0	0.008291	0	0
SCAND3	114821	broad.mit.edu	37	6	28541392	28541392	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:28541392C>T	uc003nlo.3	-	3	2892	c.2274G>A	c.(2272-2274)caG>caA	p.Q758Q		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	758					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						aaataatacactgtggtttta	0.323000														24			12		0	0	0.000978	0	0
SLC26A9	115019	broad.mit.edu	37	1	205890904	205890904	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:205890904G>A	uc001hdp.3	-	16	1959	c.1845C>T	c.(1843-1845)acC>acT	p.T615T	SLC26A9_uc001hdo.3_Silent_p.T283T|SLC26A9_uc001hdq.3_Silent_p.T615T	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	615	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CGTTAGCCGGGGTCTGGTTGT	0.647000														9			3		0	0	0.004672	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432487	140432487	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:140432487G>A	uc003lik.1	+	0	1509	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	478	Cadherin 5.				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)			CCATGCTGAGGATCTTGATTT	0.393000														38			21		0	0	0.010504	0	0
LOC649330	649330	broad.mit.edu	37	1	12907865	12907865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:12907865C>T	uc010obf.2	-	1	504	c.278G>A	c.(277-279)gGa>gAa	p.G93E	LOC649330_uc009vno.2_Missense_Mutation_p.G93E	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	93							nucleic acid binding|nucleotide binding										ACCTGCGTTTCCTCGGTTCAC	0.483000														109			19		0	0	0.001882	0	0
CTNNA3	29119	broad.mit.edu	37	10	67726406	67726406	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:67726406C>T	uc009xpn.1	-	16	2487	c.2364G>A	c.(2362-2364)gaG>gaA	p.E788E	CTNNA3_uc001jmw.2_Silent_p.E788E	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	788					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						GGTTCTGGATCTCAGCTTTAA	0.463000														53			19		0	0	0.008871	0	0
PNMAL2	57469	broad.mit.edu	37	19	46997226	46997226	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:46997226G>A	uc002pes.2	-	0	1944	c.1497C>T	c.(1495-1497)tcC>tcT	p.S499S	LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_5'Flank	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	Homo sapiens PNMA-like 2 (PNMAL2), mRNA.	499										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)		ACCCCTCGTTGGACCCCATGT	0.627000														74			36		0	0	0.002852	0	0
FAT4	79633	broad.mit.edu	37	4	126411760	126411760	+	Missense_Mutation	SNP	G	A	A	rs148534921		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:126411760G>A	uc003ifj.4	+	16	13783	c.13783G>A	c.(13783-13785)Gaa>Aaa	p.E4595K	FAT4_uc011cgp.2_Missense_Mutation_p.E2836K|FAT4_uc003ifi.1_Missense_Mutation_p.E2072K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4595					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I4594V(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						TATCTATGATGAAACTGATAT	0.483000														48			23		0	0	0.002780	0	0
DCX	1641	broad.mit.edu	37	X	110644401	110644401	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:110644401C>T	uc004epd.3	-	2	937	c.765G>A	c.(763-765)aaG>aaA	p.K255K	DCX_uc011msv.2_Silent_p.K255K|DCX_uc004epe.3_Silent_p.K174K|DCX_uc004epf.3_Silent_p.K174K|DCX_uc004epg.3_Silent_p.K174K	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	255					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GCACAAAGTCCTTGTTCTCCC	0.532000														55			17		0	0	0.004007	0	0
TBR1	10716	broad.mit.edu	37	2	162273129	162273129	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:162273129G>T	uc002ubw.1	+	0	510	c.208G>T	c.(208-210)Gac>Tac	p.D70Y	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	Homo sapiens T-box, brain, 1 (TBR1), mRNA.	70						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						CAATTTTCCTGACTCCAAGGA	0.488000														66			27		7.92952e-12	8.07488e-12	0.003954	1	0
FER1L6	654463	broad.mit.edu	37	8	125131160	125131160	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:125131160G>A	uc003yqw.3	+	39	5571	c.5365G>A	c.(5365-5367)Gag>Aag	p.E1789K	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1789						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)			AGCCCGAAAGGAGCCAGAGCC	0.502000														32			8		0	0	0.003080	0	0
ZNF99	7652	broad.mit.edu	37	19	22941198	22941198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:22941198C>T	uc021urt.1	-	3	1668	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K		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)				GGTTTCTCTTCCATATGAATT	0.348000														27			16		0	0	0.003163	0	0
ANK1	286	broad.mit.edu	37	8	41555635	41555635	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:41555635C>T	uc003xok.3	-	23	2647	c.2563G>A	c.(2563-2565)Gaa>Aaa	p.E855K	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.E171K|ANK1_uc003xoi.3_Missense_Mutation_p.E855K|ANK1_uc003xoj.3_Missense_Mutation_p.E855K|ANK1_uc003xol.3_Missense_Mutation_p.E855K|ANK1_uc003xom.3_Missense_Mutation_p.E896K	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	855					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)			GCTGGAGATTCCACCCTGCGT	0.567000														39			12		0	0	0.002450	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47123314	47123314	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:47123314G>A	uc002iom.3	+	12	1792	c.1458G>A	c.(1456-1458)gtG>gtA	p.V486V	IGF2BP1_uc010dbj.3_Silent_p.V347V	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	486	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).|Sufficient for nuclear export.				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						AGGAGGAAGTGAAGCTGGAGA	0.512000														30			10		0	0	0.006214	0	0
TULP2	7288	broad.mit.edu	37	19	49391338	49391338	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:49391338C>T	uc002pkz.2	-	7	968	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K		NM_003323	NP_003314	O00295	TULP2_HUMAN	Homo sapiens tubby like protein 2 (TULP2), mRNA.	273					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		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;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		ACGTAGGCTTCCATGTCCTCC	0.642000														28			12		0	0	0.001855	0	0
ACADS	35	broad.mit.edu	37	12	121177141	121177141	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:121177141C>G	uc001tza.4	+	9	1247	c.1129C>G	c.(1129-1131)Ccg>Gcg	p.P377A		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.	377						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)	GACAGAGATGCCGGCAGAGCG	0.632000														263			124		0	0	0.003610	0	0
TRAF3	7187	broad.mit.edu	37	14	103363719	103363719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:103363719C>T	uc001ymc.2	+	9	1294	c.941C>T	c.(940-942)tCc>tTc	p.S314F	TRAF3_uc001ymd.2_Missense_Mutation_p.S314F|TRAF3_uc001yme.2_Missense_Mutation_p.S289F|TRAF3_uc010txy.2_Missense_Mutation_p.S231F	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	Homo sapiens TNF receptor-associated factor 3 (TRAF3), transcript variant 1, mRNA.	314					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AATAATGAATCCAAAATCCTT	0.378000														21			8		0	0	0.004482	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83372093	83372093	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:83372093G>A	uc004eej.2	-	10	960	c.924C>T	c.(922-924)ttC>ttT	p.F308F	RPS6KA6_uc011mqt.2_Silent_p.F308F|RPS6KA6_uc011mqu.2_Silent_p.F205F	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	308	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GATTCCTTTTGAATAACATCC	0.313000														37			10		0	0	0.001368	0	0
FGFR1	2260	broad.mit.edu	37	8	38282138	38282138	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:38282138G>A	uc022aua.1	-	6	1767	c.825C>T	c.(823-825)ttC>ttT	p.F275F	FGFR1_uc011lbu.2_Silent_p.F306F|FGFR1_uc011lbv.2_Silent_p.F273F|FGFR1_uc011lbw.2_Silent_p.F186F|FGFR1_uc003xlp.3_Silent_p.F275F|FGFR1_uc022aub.1_Silent_p.F273F|FGFR1_uc022auc.1_Silent_p.F186F|FGFR1_uc022aud.1_Silent_p.F184F|FGFR1_uc010lwk.3_Silent_p.F267F|FGFR1_uc011lbr.2_Non-coding_Transcript|FGFR1_uc011lbs.2_Silent_p.F115F|FGFR1_uc011lbt.1_Silent_p.F184F|FGFR1_uc011lbx.1_Silent_p.F186F|FGFR1_uc003xlv.3_Silent_p.F186F|FGFR1_uc003xlu.3_Silent_p.F184F	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	275	Ig-like C2-type 3.				MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CCTTACACATGAACTCCACGT	0.582000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""							90			40		0	0	0.002522	0	0
DIDO1	11083	broad.mit.edu	37	20	61512356	61512356	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:61512356G>A	uc002ydr.2	-	15	5264	c.4952C>T	c.(4951-4953)tCg>tTg	p.S1651L	DIDO1_uc002yds.2_Missense_Mutation_p.S1651L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1651					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)					AGGCCTGGCCGAGCTGTCTCC	0.736000														13			9		0	0	0.000978	0	0
CR1L	1379	broad.mit.edu	37	1	207890829	207890829	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:207890829C>T	uc001hga.4	+	10	1556	c.1435C>T	c.(1435-1437)Cca>Tca	p.P479S	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	479	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCCAAATCCTCCAGCTATCCT	0.413000														87			35		0	0	0.005524	0	0
NDOR1	27158	broad.mit.edu	37	9	140109371	140109372	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:140109371_140109372CC>TT	uc004clx.3	+	7	1077_1078	c.966_967CC>TT	c.(964-969)ctccat>ctTTat	p.H323Y	NDOR1_uc004clw.3_Missense_Mutation_p.H323Y|NDOR1_uc011mes.2_Missense_Mutation_p.H323Y|NDOR1_uc004cly.3_Missense_Mutation_p.H289Y	NM_001144026	NP_001137498	Q9UHB4	NDOR1_HUMAN	Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA.	323	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)		GTCTATCCCTCCATGAGCTGGA	0.629000														59			21		0	0	0.004672	0	0
OR4C3	256144	broad.mit.edu	37	11	48346903	48346903	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:48346903C>T	uc010rhv.2	+	0	411	c.411C>T	c.(409-411)atC>atT	p.I137I		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	110					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						GTGTTGAGATCATTCTGCTCA	0.478000														127			36		0	0	0.005524	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266077	41266077	+	Nonsense_Mutation	SNP	G	A	A	rs121913416		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:41266077G>A	uc010hia.1	+	3	230	c.74G>A	c.(73-75)tGg>tAg	p.W25*	CTNNB1_uc003ckq.2_Nonsense_Mutation_p.W25*|CTNNB1_uc003ckp.2_Nonsense_Mutation_p.W25*|CTNNB1_uc003ckr.2_Nonsense_Mutation_p.W25*|CTNNB1_uc011azf.1_Nonsense_Mutation_p.W18*|CTNNB1_uc011azg.1_Intron|AK311005_uc010hib.1_Intron	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	25			Missing (in hepatocellular carcinoma).		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_A80del(119)|p.A5_Q143del(14)|p.A5_A80>D(14)|p.WQQQSYLD25?(10)|p.H24_S47del(9)|p.W25_D32del(9)|p.W25_I140del(7)|p.V22_G38del(6)|p.S23_S33del(5)|p.T3_A126del(4)|p.V22_S33del(4)|p.W25L(4)|p.M5_N141>D(4)|p.?(4)|p.L10_N141del(4)|p.A5_Y142>D(4)|p.W25*(3)|p.A5_Q143>E(2)|p.A13_R151del(2)|p.D6_S29del(2)|p.M14_S45del(2)|p.A20_N141del(2)|p.M1_A87del(2)|p.Q4_A80del(2)|p.A5fs*7(2)|p.D11_Y142>H(2)|p.W25_H36del(2)|p.H24_G38del(2)|p.S23_I35del(2)|p.H24_L31del(2)|p.V22_L139>V(2)|p.W25_S33del(2)|p.V22_T102del(2)|p.A20_A80del(2)|p.V22_S71>A(2)|p.A5_T59del(2)|p.A20_I35del(2)|p.M1_V173del(2)|p.E15_I140>V(2)|p.S23_A39del(2)|p.H24_M131del(2)|p.A21_A80del(2)|p.A5_T40del(2)|p.A5_E54del(2)|p.W25_I35del(2)|p.M8_A80del(2)|p.P16_K133del(2)|p.V22_Y64del(2)|p.A20_S111del(2)|p.A5_I35del(2)|p.A20_Q143del(1)|p.A20_Q72del(1)|p.H24Y(1)|p.A5_Q72del(1)|p.E9_S47del(1)|p.M8_G50del(1)|p.V22_A97del(1)|p.D6_A43del(1)|p.A5_D144>D(1)|p.V22_G80>NNNNN(1)|p.H24R(1)|p.A20_R151del(1)|p.D6_K133del(1)|p.A5_R90del(1)|p.D17_P128del(1)|p.M8_L132del(1)|p.L7_I140del(1)|p.E9_A80del(1)|p.K19_Y142>V(1)|p.A5_T42del(1)|p.E9_I140del(1)|p.Q4_Y142del(1)|p.V22_A80del(1)|p.Q4_D144del(1)|p.D6_I140del(1)|p.5_142>(1)|p.W25_A80del(1)|p.S23_I140del(1)|p.A20_L148del(1)|p.D17_A126del(1)|p.M1_T42del(1)|p.H24fs*23(1)|p.A5_G80>(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)	GTTAGTCACTGGCAGCAACAG	0.458000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					23			8		0	0	0.006214	0	0
MED12L	116931	broad.mit.edu	37	3	150911423	150911423	+	Silent	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:150911423A>G	uc003eyp.3	+	13	2244	c.2115A>G	c.(2113-2115)ttA>ttG	p.L705L	MED12L_uc011bnz.2_Silent_p.L565L|MED12L_uc003eyn.3_Silent_p.L740L|MED12L_uc003eyo.3_Silent_p.L705L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	705					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)			TTCGCCACTTACAGTATGCAA	0.368000														52			37		0	0	0.008740	0	0
ANXA2R	389289	broad.mit.edu	37	5	43040011	43040011	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:43040011C>T	uc003jnf.3	-	0	437	c.138G>A	c.(136-138)gaG>gaA	p.E46E	LOC153684_uc003jng.2_5'Flank|LOC153684_uc003jni.2_5'Flank	NM_001014279	NP_001014301	Q3ZCQ2	AX2R_HUMAN	Homo sapiens chromosome 5 open reading frame 39 (C5orf39), mRNA.	46							receptor activity										CCAGTGAGTACTCTCCTAGTA	0.582000											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			17		0	0	0.004990	0	0
POLQ	10721	broad.mit.edu	37	3	121256010	121256010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:121256010C>T	uc003eee.4	-	4	806	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	226	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.R359Q(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)		CAGATACCCTCGGTGAGAGTC	0.388000								DNA polymerases (catalytic subunits)						40			27		0	0	0.008361	0	0
MORC3	23515	broad.mit.edu	37	21	37744705	37744705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:37744705C>T	uc002yvi.3	+	15	2618	c.2542C>T	c.(2542-2544)Cgt>Tgt	p.R848C		NM_015358	NP_056173	Q14149	MORC3_HUMAN	Homo sapiens MORC family CW-type zinc finger 3 (MORC3), mRNA.	848					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						GTCACAAATCCGTTCACAGTG	0.323000														46			17		0	0	0.001882	0	0
PLCH1	23007	broad.mit.edu	37	3	155212159	155212159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:155212159G>A	uc021xge.1	-	14	2283	c.2006C>T	c.(2005-2007)cCt>cTt	p.P669L	PLCH1_uc021xgd.1_Missense_Mutation_p.P669L|PLCH1_uc021xgf.1_Missense_Mutation_p.P651L	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	669	PI-PLC Y-box.				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)			GTAGGGGAGAGGGTTGAAGTT	0.458000														56			10		0	0	0.001855	0	0
UGT2B4	7363	broad.mit.edu	37	4	70359453	70359453	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:70359453G>A	uc003hek.4	-	1	875	c.828C>T	c.(826-828)ttC>ttT	p.F276F	UGT2B4_uc011cap.2_Silent_p.F140F|UGT2B4_uc003hel.4_Silent_p.F276F	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	276					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						GTCCTCCAACGAACTCAACAT	0.413000														95			46		0	0	0.003610	0	0
SDPR	8436	broad.mit.edu	37	2	192701153	192701153	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:192701153C>T	uc002utb.3	-	1	1129	c.774G>A	c.(772-774)ctG>ctA	p.L258L		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	258						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)	TCTTTGTCCCCAGCTTGTTCA	0.418000														182			46		0	0	0.003610	0	0
GRIA3	2892	broad.mit.edu	37	X	122459949	122459949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:122459949G>A	uc004etq.4	+	3	873	c.581G>A	c.(580-582)gGa>gAa	p.G194E	GRIA3_uc004etr.4_Missense_Mutation_p.G194E|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.G178E	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	194					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AGGTCTGTGGGAAACATAAAG	0.443000														33			13		0	0	0.001855	0	0
PTPLAD2	401494	broad.mit.edu	37	9	21029305	21029305	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:21029305G>A	uc010miq.2	-	1	177	c.131C>T	c.(130-132)tCa>tTa	p.S44L	PTPLAD2_uc010mir.1_Missense_Mutation_p.S44L	NM_001010915	NP_001010915	Q5VWC8	HACD4_HUMAN	Homo sapiens protein tyrosine phosphatase-like A domain containing 2 (PTPLAD2), mRNA.	44					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TTTTCCAAATGAAAAGAATCT	0.308000														34			14		0	0	0.001855	0	0
BSN	8927	broad.mit.edu	37	3	49692992	49692992	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:49692992C>T	uc003cxe.4	+	4	6117	c.6003C>T	c.(6001-6003)atC>atT	p.I2001I		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2001					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)		CCCAGAGGATCGGGCAGCTCT	0.602000														75			23		0	0	0.002780	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44801181	44801181	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:44801181C>T	uc003tlr.3	+	9	1497	c.1374C>T	c.(1372-1374)acC>acT	p.T458T	ZMIZ2_uc003tlq.3_Silent_p.T400T|ZMIZ2_uc003tls.3_Silent_p.T432T|ZMIZ2_uc003tlt.3_Silent_p.T81T|ZMIZ2_uc010kyj.3_5'UTR	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	458	Interaction with AR.				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						TCTACAAGACCCTGATAATGA	0.617000														79			22		0	0	0.005443	0	0
AGAP11	119385	broad.mit.edu	37	10	88769257	88769257	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:88769257G>A	uc001kee.2	+	11	2452	c.1248G>A	c.(1246-1248)acG>acA	p.T416T	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.	416	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AGGGGCAGACGAAACCCTCAA	0.527000														134			40		0	0	0.006999	0	0
VSIG1	340547	broad.mit.edu	37	X	107310287	107310287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:107310287G>A	uc011msk.2	+	3	604	c.443G>A	c.(442-444)gGa>gAa	p.G148E	VSIG1_uc004eno.3_Missense_Mutation_p.G112E	NM_001170553	NP_001164024	Q86XK7	VSIG1_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 1 (VSIG1), transcript variant 1, mRNA.	112	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GCAGACAGTGGAATTTACATC	0.458000														122			52		0	0	0.003610	0	0
ITPKB	3707	broad.mit.edu	37	1	226835002	226835002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:226835002C>T	uc010pvo.2	-	3	2452	c.2112G>A	c.(2110-2112)atG>atA	p.M704I		NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	704							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)				GCACATCCACCATCAGCCGGT	0.592000														22			11		0	0	0.001368	0	0
SSR4	6748	broad.mit.edu	37	X	153062943	153062943	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:153062943A>T	uc004fiv.3	+	3	368	c.250A>T	c.(250-252)Aaa>Taa	p.K84*	IDH3G_uc004fip.3_5'Flank|IDH3G_uc004fiq.3_5'Flank|IDH3G_uc004fit.1_5'Flank|SSR4_uc022chw.1_Nonsense_Mutation_p.K81*|SSR4_uc022chx.1_Non-coding_Transcript|SSR4_uc004fiw.3_Nonsense_Mutation_p.K73*	NM_001204526	NP_001191455	P51571	SSRD_HUMAN	Homo sapiens signal sequence receptor, delta (SSR4), transcript variant 1, mRNA.	73					intracellular protein transport	Sec61 translocon complex|integral to membrane	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(2)	4	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)					CGTCGGTGGAAAACAATTCCC	0.612000														55			15		0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179560116	179560116	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179560116G>A	uc021vsy.1	-	111	27722	c.27497C>T	c.(27496-27498)cCa>cTa	p.P9166L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P5827L|TTN_uc010fre.1_Missense_Mutation_p.P277L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10093	Ig-like 74.						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)			TACTTTGGCTGGAACTTTTCT	0.338000														67			20		0	0	0.001882	0	0
PSMC5	5705	broad.mit.edu	37	17	61908517	61908517	+	Silent	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:61908517T>C	uc002jcb.3	+	7	882	c.801T>C	c.(799-801)agT>agC	p.S267S	PSMC5_uc010ddy.3_Silent_p.S244S|PSMC5_uc002jcd.3_Silent_p.S259S	NM_002805	NP_002796	P62195	PRS8_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 5 (PSMC5), transcript variant 1, mRNA.	267					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 programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GAGGGGACAGTGAAGTGCAGC	0.567000														113			36		0	0	0.005524	0	0
NEK11	79858	broad.mit.edu	37	3	130873927	130873927	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:130873927G>A	uc003eny.3	+	9	1250	c.924G>A	c.(922-924)ttG>ttA	p.L308L	NEK11_uc003enx.3_Silent_p.L308L|NEK11_uc003eoa.3_Silent_p.L308L|NEK11_uc003enz.3_Silent_p.L126L|NEK11_uc011blk.2_Silent_p.L160L|NEK11_uc011bll.2_Intron|NEK11_uc011blm.2_Silent_p.L308L	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 11 (NEK11), transcript variant 1, mRNA.	308					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						ACAAAAATTTGGATTGTCAGA	0.333000														26			13		0	0	0.001855	0	0
ZNF454	285676	broad.mit.edu	37	5	178392621	178392621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:178392621C>T	uc003mjo.2	+	4	1517	c.1216C>T	c.(1216-1218)Cac>Tac	p.H406Y	ZNF454_uc010jkz.2_Missense_Mutation_p.H406Y|ZNF454_uc021yjc.1_Missense_Mutation_p.H406Y	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|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;0.234)		TCGGAAAATTCACACTGGAGA	0.418000														39			10		0	0	0.006214	0	0
NCOR2	9612	broad.mit.edu	37	12	124824947	124824947	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:124824947G>A	uc021rga.1	-	35	5519	c.5402C>T	c.(5401-5403)tCc>tTc	p.S1801F	NCOR2_uc021rgb.1_Missense_Mutation_p.S1785F|NCOR2_uc010tbb.2_Missense_Mutation_p.S1794F|NCOR2_uc010tbc.2_Missense_Mutation_p.S1784F|NCOR2_uc021rgc.1_Missense_Mutation_p.S1784F|NCOR2_uc010tba.2_Missense_Mutation_p.S1802F|NCOR2_uc010tax.2_5'Flank	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1802					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)		CTCCCGCTCGGACGAGGACGT	0.622000														20			12		0	0	0.000978	0	0
FAM81B	153643	broad.mit.edu	37	5	94749762	94749762	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:94749762C>T	uc003kla.1	+	3	451	c.405C>T	c.(403-405)atC>atT	p.I135I	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	135										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CCTTCCGCATCAAGGAGGACA	0.522000														42			21		0	0	0.010504	0	0
ZNF257	113835	broad.mit.edu	37	19	22270818	22270818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:22270818G>A	uc010ecx.3	+	3	435	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	ZNF257_uc010ecy.3_Missense_Mutation_p.R57Q	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R89Q(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGCCCAGAGCGAGACATAAAA	0.313000														37			8		0	0	0.006214	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77042653	77042653	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:77042653G>A	uc002jwt.3	+	1	548	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	C1QTNF1_uc002jwp.3_Missense_Mutation_p.E58K|C1QTNF1_uc002jwq.3_5'UTR|C1QTNF1_uc002jwr.4_Missense_Mutation_p.E68K|C1QTNF1_uc002jws.3_Missense_Mutation_p.E58K	NM_198594	NP_940996	Q9BXJ1	C1QT1_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA.	58	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)			AGAACAACATGAAAAATACAG	0.592000											OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			25		0	0	0.004656	0	0
NBPF1	55672	broad.mit.edu	37	1	16901664	16901664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:16901664G>A	uc009vos.1	-	19	3068	c.2180C>T	c.(2179-2181)tCg>tTg	p.S727L	NBPF1_uc009vot.1_Missense_Mutation_p.S185L|NBPF1_uc001ayz.1_Missense_Mutation_p.S185L|NBPF1_uc010oce.1_Missense_Mutation_p.S456L	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	727	NBPF 3.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GGGGGCAGACGATTTCTGCAC	0.428000														386			20		0	0	0.009535	0	0
CT47B1	643311	broad.mit.edu	37	X	120009248	120009248	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:120009248C>T	uc011muc.2	-	0	532	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	93	Poly-Glu.									breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						tcctcctcttcctccGTCGCG	0.701000														34			15		0	0	0.002450	0	0
MUC6	4588	broad.mit.edu	37	11	1016881	1016881	+	Missense_Mutation	SNP	C	T	T	rs71472140		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:1016881C>T	uc001lsw.2	-	30	5971	c.5920G>A	c.(5920-5922)Ggg>Agg	p.G1974R		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1974	Thr-rich.				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)		GGACTGCTCCCTGTAGGTGGG	0.587000														565			14		0	0	0.002852	0	0
MYO5B	4645	broad.mit.edu	37	18	47563319	47563319	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:47563319T>C	uc002leb.2	-	3	644	c.356A>G	c.(355-357)tAt>tGt	p.Y119C	MYO5B_uc021ukb.1_Missense_Mutation_p.Y118C	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	119	Myosin head-like.				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)		ATCTTGTCCATAGATTGGCAA	0.473000														27			16		0	0	0.003163	0	0
MUSK	4593	broad.mit.edu	37	9	113538218	113538218	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:113538218G>A	uc022blv.1	+	9	1469	c.1335G>A	c.(1333-1335)acG>acA	p.T445T	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Silent_p.T364T|MUSK_uc022blu.1_Silent_p.T354T	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	445	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						GGGACCCCACGGCCTGTGCCA	0.473000														129			47		0	0	0.003610	0	0
SHROOM4	57477	broad.mit.edu	37	X	50438892	50438892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:50438892C>T	uc004dpe.2	-	1	189	c.163G>A	c.(163-165)Ggt>Agt	p.G55S	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	55	PDZ.				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)					AGCTCATCACCAGTCCTCATC	0.478000														40			14		0	0	0.003163	0	0
ZHX2	22882	broad.mit.edu	37	8	123964738	123964738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:123964738C>T	uc022bag.1	+	0	988	c.988C>T	c.(988-990)Cgg>Tgg	p.R330W	ZHX2_uc003ypk.1_Missense_Mutation_p.R330W	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	330	Required for homodimerization.|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	p.R330Q(1)|p.R330R(1)		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)			GGAGGAGGCCCGGAAGAAGAT	0.597000														94			21		0	0	0.001882	0	0
PDGFRB	5159	broad.mit.edu	37	5	149497198	149497198	+	Silent	SNP	A	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:149497198A>C	uc003lro.3	-	21	3589	c.3120T>G	c.(3118-3120)ggT>ggG	p.G1040G	PDGFRB_uc010jhd.3_Silent_p.G879G	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	1040					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)	GGCTGGGGGAACCCTCCAGTG	0.607000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									51			11		0	0	0.004007	0	0
SSBP2	23635	broad.mit.edu	37	5	80785071	80785071	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:80785071G>A	uc003khp.3	-	5	641	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	SSBP2_uc003khn.3_Nonsense_Mutation_p.Q18*|SSBP2_uc011ctr.2_Nonsense_Mutation_p.Q114*|SSBP2_uc003kho.3_Nonsense_Mutation_p.Q144*|SSBP2_uc011ctp.2_Intron|SSBP2_uc011ctq.2_Nonsense_Mutation_p.Q114*	NM_012446	NP_036578	P81877	SSBP2_HUMAN	Homo sapiens single-stranded DNA binding protein 2 (SSBP2), mRNA.	144	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)		AATCTTACCTGATTAGGTATC	0.323000														22			6		0	0	0.001168	0	0
TM9SF2	9375	broad.mit.edu	37	13	100190108	100190108	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:100190108A>G	uc001voj.1	+	5	840	c.707A>G	c.(706-708)gAa>gGa	p.E236G	TM9SF2_uc010afz.1_Intron	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA.	236					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)					GCTAAACTTGAACCGAAAAGG	0.318000														18			5		0	0	0.003080	0	0
KIF4B	285643	broad.mit.edu	37	5	154395111	154395111	+	Silent	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:154395111A>G	uc010jih.1	+	0	1852	c.1692A>G	c.(1690-1692)ctA>ctG	p.L564L		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	564					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)			TAAAAAATCTAGAATTAGAAG	0.423000														36			18		0	0	0.008871	0	0
RXRA	6256	broad.mit.edu	37	9	137300902	137300902	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:137300902C>T	uc004cfb.2	+	3	709	c.547C>T	c.(547-549)Cag>Tag	p.Q183*	RXRA_uc004cfc.1_Nonsense_Mutation_p.Q86*	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	183					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)	TGACAAGCGGCAGCGGAACCG	0.652000														64			26		0	0	0.002836	0	0
FAM65C	140876	broad.mit.edu	37	20	49204371	49204371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr20:49204371C>T	uc010zyt.2	-	20	2971	c.2720G>A	c.(2719-2721)cGg>cAg	p.R907Q	FAM65C_uc002xvm.3_Missense_Mutation_p.R903Q	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	903										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						GGCTGCCGCCCGCACGGCCTC	0.597000											OREG0026030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			15		0	0	0.004990	0	0
TBC1D1	23216	broad.mit.edu	37	4	38117331	38117331	+	Splice_Site	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:38117331G>A	uc003gtb.3	+	16	2916	c.2558_splice	c.e16-1	p.G853_splice	TBC1D1_uc011byd.2_Splice_Site_p.G947_splice|TBC1D1_uc010ifd.3_Splice_Site_p.G640_splice|TBC1D1_uc021xnh.1_Splice_Site|TBC1D1_uc021xni.1_Splice_Site	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	853	Rab-GAP TBC.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTTTTCACAGGGCGAACCTTT	0.388000														57			17		0	0	0.006122	0	0
ZNF99	7652	broad.mit.edu	37	19	22940632	22940632	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:22940632C>T	uc021urt.1	-	3	2234	c.2079G>A	c.(2077-2079)agG>agA	p.R693R		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)				TCTTATGTTTCCTAAGGGCTG	0.373000														47			20		0	0	0.003330	0	0
RBP3	5949	broad.mit.edu	37	10	48388693	48388693	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:48388693G>A	uc001jez.3	-	0	2299	c.2185C>T	c.(2185-2187)Ctt>Ttt	p.L729F		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	729	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.L729I(2)		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)	GCCTCAATAAGGTAGGTGAGC	0.632000														44			18		0	0	0.007413	0	0
AFF4	27125	broad.mit.edu	37	5	132267893	132267893	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:132267893T>G	uc003kyd.3	-	3	1348	c.940A>C	c.(940-942)Agc>Cgc	p.S314R	AFF4_uc011cxk.2_5'UTR|AFF4_uc003kye.1_Missense_Mutation_p.S314R|AFF4_uc003kyf.4_Missense_Mutation_p.S314R	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	314	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCCACACAGCTCACATCACCA	0.308000														19			6		0	0	0.001168	0	0
GSPT2	23708	broad.mit.edu	37	X	51488235	51488235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:51488235C>T	uc004dpl.3	+	0	1755	c.1513C>T	c.(1513-1515)Cca>Tca	p.P505S		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	505					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					AGAGATTCTTCCAGGATTCAT	0.408000														42			9		0	0	0.006214	0	0
CSMD1	64478	broad.mit.edu	37	8	3063043	3063043	+	Missense_Mutation	SNP	G	A	A	rs116801637	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:3063043G>A	uc022aqr.1	-	30	5357	c.4967C>T	c.(4966-4968)aCg>aTg	p.T1656M	CSMD1_uc011kwj.2_Missense_Mutation_p.T1049M|CSMD1_uc003wqe.3_Missense_Mutation_p.T813M	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1657	CUB 10.					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)		CTTTGGTACCGTGATGGAATA	0.398000														11			4		0	0	0.001984	0	0
STL	7955	broad.mit.edu	37	6	125232330	125232330	+	RNA	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:125232330C>T	uc003pzq.3	-	6		c.2404G>A								Homo sapiens six-twelve leukemia (STL), non-coding RNA.																		ATATGAATATCAATAAAACCC	0.423000			T	ETV6	B-ALL									3			4		0	0	0.009096	0	0
SEC24D	9871	broad.mit.edu	37	4	119736660	119736660	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:119736660G>A	uc003ici.4	-	4	891	c.619C>T	c.(619-621)Cag>Tag	p.Q207*	SEC24D_uc003icj.4_Nonsense_Mutation_p.Q207*|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript|SEC24D_uc011cgg.1_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	207	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			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GGTGGGGGCTGGTACTGGGCA	0.602000														38			20		0	0	0.007413	0	0
SYNJ2	8871	broad.mit.edu	37	6	158517144	158517144	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:158517144C>T	uc003qqx.2	+	26	4345	c.4239C>T	c.(4237-4239)gaC>gaT	p.D1413D	SYNJ2_uc003qqy.2_Silent_p.D1176D|SYNJ2_uc003qqz.2_Silent_p.D1030D|SYNJ2_uc003qra.2_Silent_p.D756D	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1413							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)		ATTATCAGGACCCCTTCTGGA	0.517000														44			24		0	0	0.004656	0	0
EIF4G1	1981	broad.mit.edu	37	3	184041377	184041377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:184041377C>T	uc003fnp.3	+	14	2541	c.2270C>T	c.(2269-2271)aCc>aTc	p.T757I	EIF4G1_uc003fno.2_Missense_Mutation_p.T698I|EIF4G1_uc010hxw.2_Missense_Mutation_p.T593I|EIF4G1_uc010hxx.3_Missense_Mutation_p.T764I|EIF4G1_uc003fnt.3_Missense_Mutation_p.T468I|EIF4G1_uc010hxy.3_Missense_Mutation_p.T764I|EIF4G1_uc003fnq.3_Missense_Mutation_p.T670I|EIF4G1_uc003fnr.3_Missense_Mutation_p.T593I|EIF4G1_uc003fns.3_Missense_Mutation_p.T717I|EIF4G1_uc003fnv.4_Missense_Mutation_p.T758I|EIF4G1_uc003fnw.3_Missense_Mutation_p.T764I|EIF4G1_uc003fnx.3_Missense_Mutation_p.T562I|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.	757	MIF4G.|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			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)			GGCAGCAAAACCCAGGTACTG	0.493000														72			15		0	0	0.002450	0	0
DNALI1	7802	broad.mit.edu	37	1	38027169	38027169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:38027169C>T	uc001cbj.3	+	3	485	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W	DNALI1_uc010oie.2_Non-coding_Transcript	NM_003462	NP_003453	O14645	IDLC_HUMAN	Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA.	137					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGAGTTGATCCGGGAGGTCAC	0.587000											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			13		0	0	0.001368	0	0
ZNF407	55628	broad.mit.edu	37	18	72347218	72347218	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:72347218C>T	uc002llw.2	+	0	4296	c.4243C>T	c.(4243-4245)Cgc>Tgc	p.R1415C	ZNF407_uc010xfc.2_Missense_Mutation_p.R1415C|ZNF407_uc010dqu.2_Missense_Mutation_p.R1415C|ZNF407_uc002llu.2_Missense_Mutation_p.R1414C	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1415				R -> C (in Ref. 2; BAA91077).	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)		TACACGAATTCGCTGTGATGA	0.443000														29			20		0	0	0.008871	0	0
CLSTN1	22883	broad.mit.edu	37	1	9833398	9833398	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:9833398T>C	uc001aqh.3	-	1	905	c.146A>G	c.(145-147)aAc>aGc	p.N49S	CLSTN1_uc001aqi.3_Missense_Mutation_p.N49S|CLSTN1_uc010oag.2_Missense_Mutation_p.N49S	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	49	Cadherin 1.				homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GGTGTTGTCGTTCTCTGTGAC	0.483000														16			14		0	0	0.004007	0	0
ZDHHC7	55625	broad.mit.edu	37	16	85010020	85010020	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:85010020G>A	uc010voi.1	-	8	1320	c.967C>T	c.(967-969)Ccc>Tcc	p.P323S	ZDHHC7_uc002fiq.2_Missense_Mutation_p.P286S|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.	286						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						CCCACAAAGGGATTCATCCAG	0.582000														53			20		0	0	0.001882	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179302127	179302127	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr5:179302127G>A	uc003mlh.3	-	11	1996	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	TBC1D9B_uc003mli.3_Missense_Mutation_p.S654L|TBC1D9B_uc003mlj.3_Missense_Mutation_p.S654L|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.	654	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)			CATCTTCTCCGAGAGCTGCGG	0.622000														52			21		0	0	0.002299	0	0
SRRM2	23524	broad.mit.edu	37	16	2812251	2812251	+	Silent	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:2812251T>C	uc002crk.3	+	10	2271	c.1722T>C	c.(1720-1722)cgT>cgC	p.R574R	SRRM2_uc002crj.1_Silent_p.R478R|SRRM2_uc002crl.1_Silent_p.R574R|SRRM2_uc010bsu.1_Silent_p.R478R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	574	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						GTAGATCTCGTTCTAGAACAC	0.597000														14			11		0	0	0.000978	0	0
LRP1B	53353	broad.mit.edu	37	2	141819748	141819748	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:141819748C>T	uc002tvj.1	-	7	2080	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	370					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)		GCTGGCTGCTCTGTCTTTGAA	0.428000										TSP Lung(27;0.18)				62			24		0	0	0.002780	0	0
SCN10A	6336	broad.mit.edu	37	3	38739746	38739746	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:38739746G>A	uc003ciq.3	-	26	4965	c.4965C>T	c.(4963-4965)ttC>ttT	p.F1655F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1655					sensory perception	voltage-gated sodium channel complex		p.L1654V(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)	TGGTAATCTGGAAGAGGCACA	0.587000														89			39		0	0	0.006230	0	0
AVIL	10677	broad.mit.edu	37	12	58197420	58197420	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:58197420C>T	uc001sqj.2	-	13	1733	c.1704G>A	c.(1702-1704)aaG>aaA	p.K568K	AVIL_uc009zqe.2_Silent_p.K561K|AVIL_uc001sqk.1_Silent_p.K146K	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	568	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)					TGGCCAGCTCCTTAGCCATTG	0.587000											OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			10		0	0	0.001368	0	0
SRGAP1	57522	broad.mit.edu	37	12	64472794	64472794	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:64472794C>T	uc010ssp.1	+	8	1277	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S	SRGAP1_uc001srt.3_Silent_p.S407S|SRGAP1_uc001srv.2_Silent_p.S367S	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	407					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)		ACAGTCGTTCCACAGAATCAG	0.473000														32			16		0	0	0.003163	0	0
DSP	1832	broad.mit.edu	37	6	7565712	7565712	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:7565712G>A	uc003mxp.1	+	6	1177	c.898G>A	c.(898-900)Gac>Aac	p.D300N	DSP_uc003mxq.1_Missense_Mutation_p.D300N|DSP_uc021yle.1_Missense_Mutation_p.D300N	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	300	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)		CGACTGGAGCGACAAGAACAC	0.552000														32			9		0	0	0.004482	0	0
ZBBX	79740	broad.mit.edu	37	3	167016198	167016198	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:167016198G>A	uc011bpc.2	-	17	2111	c.1774C>T	c.(1774-1776)Caa>Taa	p.Q592*	ZBBX_uc003feq.3_Nonsense_Mutation_p.Q563*|ZBBX_uc003fep.3_Nonsense_Mutation_p.Q592*	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	592						intracellular	zinc ion binding	p.Y591*(1)		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						TCAAGTCCTTGATATTGTTTT	0.299000														88			19		0	0	0.010504	0	0
ASIC2	40	broad.mit.edu	37	17	32483156	32483156	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:32483156G>A	uc002hhu.3	-	0	670	c.396C>T	c.(394-396)tcC>tcT	p.S132S		NM_001094	NP_001085	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA.	132					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CCTCCAGCACGGAGGGGTCAG	0.612000														57			37		0	0	0.006999	0	0
ZNF99	7652	broad.mit.edu	37	19	22941365	22941365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:22941365C>T	uc021urt.1	-	3	1501	c.1346G>A	c.(1345-1347)gGa>gAa	p.G449E		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.E449K(1)		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)				GGGTTGCTTTCCAGTATGAAT	0.368000														33			13		0	0	0.001855	0	0
ZNF490	57474	broad.mit.edu	37	19	12692534	12692534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:12692534G>A	uc002mtz.2	-	4	484	c.355C>T	c.(355-357)Cct>Tct	p.P119S		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	119	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						TCAACCATAGGACTTCTGTAA	0.323000														50			22		0	0	0.002299	0	0
TTN	7273	broad.mit.edu	37	2	179631139	179631139	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179631139C>T	uc021vsy.1	-	40	9897	c.9672G>A	c.(9670-9672)agG>agA	p.R3224R	TTN_uc021vsz.1_Silent_p.R3178R|TTN_uc021vta.1_Silent_p.R3178R|TTN_uc021vtb.1_Silent_p.R3178R|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Silent_p.R3224R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3224							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)			AACTCCTGTTCCTTCCTGCCA	0.413000														67			38		0	0	0.008740	0	0
ACSM4	341392	broad.mit.edu	37	12	7469819	7469819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:7469819C>T	uc001qsx.1	+	3	707	c.707C>T	c.(706-708)cCt>cTt	p.P236L		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	236					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						ACAGGCTTTCCTAAAATGGCC	0.483000														9			7		0	0	0.001984	0	0
RIT2	6014	broad.mit.edu	37	18	40503584	40503584	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr18:40503584G>A	uc002lav.3	-	3	552	c.379C>T	c.(379-381)Ccc>Tcc	p.P127S	RIT2_uc010dnf.3_Missense_Mutation_p.P127S	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	127					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGCACCAGGGGAATTTCATAG	0.478000														160			66		0	0	0.003610	0	0
FMN2	56776	broad.mit.edu	37	1	240370999	240370999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:240370999G>A	uc010pye.2	+	5	3124	c.2899G>A	c.(2899-2901)Ggc>Agc	p.G967S	FMN2_uc010pyd.2_Missense_Mutation_p.G963S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	963	FH1.|Pro-rich.				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)			TCCCGGGGCAGGCATACCCCT	0.697000														30			11		0	0	0.001855	0	0
GALNT8	26290	broad.mit.edu	37	12	4853838	4853838	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:4853838G>A	uc001qne.1	+	3	924	c.832G>A	c.(832-834)Gat>Aat	p.D278N		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	278	Catalytic subdomain A.					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						CGCCATCTTGGATGCTCACAT	0.493000														22			8		0	0	0.006214	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963946	88963946	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:88963946G>A	uc011khi.2	+	3	2188	c.1650G>A	c.(1648-1650)agG>agA	p.R550R		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	550						intracellular	zinc ion binding			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)			AATTCCAGAGGAAATATAATT	0.348000										HNSCC(36;0.09)				32			15		0	0	0.003163	0	0
C3orf39	84892	broad.mit.edu	37	3	43122913	43122913	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:43122913G>A	uc003cmr.1	-	1	354	c.11C>T	c.(10-12)tCg>tTg	p.S4L	C3orf39_uc003cmq.1_Missense_Mutation_p.S4L|C3orf39_uc021wwn.1_Missense_Mutation_p.S4L	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	Homo sapiens chromosome 3 open reading frame 39 (C3orf39), mRNA.	4						extracellular region	transferase activity, transferring glycosyl groups	p.S4L(2)		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)		GAACACCGCCGAGAGGTGCAT	0.637000														6			4		0	0	0.009096	0	0
CYP2C9	1559	broad.mit.edu	37	10	96740982	96740982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:96740982G>A	uc001kka.4	+	6	1029	c.1004G>A	c.(1003-1005)cGg>cAg	p.R335Q	CYP2C9_uc009xut.3_Missense_Mutation_p.R333Q	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	335			R -> W (in allele CYP2C9*11; dbSNP:rs28371685).		exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GGCAGAAACCGGAGCCCCTGC	0.493000														94			42		0	0	0.003610	0	0
GDF6	392255	broad.mit.edu	37	8	97172846	97172846	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:97172846C>T	uc003yhp.3	-	0	175	c.75G>A	c.(73-75)caG>caA	p.Q25Q		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	Homo sapiens growth differentiation factor 6 (GDF6), mRNA.	25					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(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					AGATGGAAGCCTGCTGGAAAC	0.632000														65			36		0	0	0.007835	0	0
PSMD2	5708	broad.mit.edu	37	3	184026631	184026631	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:184026631C>T	uc003fnn.1	+	20	2713	c.2680C>T	c.(2680-2682)Ctg>Ttg	p.L894L	PSMD2_uc011brj.1_Silent_p.L735L|PSMD2_uc011brk.1_Silent_p.L764L	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 (PSMD2), mRNA.	894					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)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TACCCCCATTCTGGAAGGTTT	0.517000											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		150			101		0	0	0.003610	0	0
ASNSD1	54529	broad.mit.edu	37	2	190531889	190531889	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:190531889C>T	uc002uqt.3	+	3	1465	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	Homo sapiens asparagine synthetase domain containing 1 (ASNSD1), mRNA.	344	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	p.P344S(1)		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)			CGTCATATTCCTTTAGATGAA	0.373000														77			29		0	0	0.006320	0	0
GRID1	2894	broad.mit.edu	37	10	87484278	87484278	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:87484278G>A	uc001kdl.1	-	10	1790	c.1689C>T	c.(1687-1689)ttC>ttT	p.F563F	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Silent_p.F134F	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	563						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.F563V(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)	CCCACACAGCGAAATCAAATG	0.507000										Multiple Myeloma(13;0.14)				41			18		0	0	0.006122	0	0
OGT	8473	broad.mit.edu	37	X	70787443	70787443	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:70787443C>T	uc004eaa.2	+	19	2921	c.2683C>T	c.(2683-2685)Ctg>Ttg	p.L895L	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Silent_p.L885L|OGT_uc004eac.3_Silent_p.L756L|OGT_uc004ead.3_Silent_p.L514L	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.	895					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)					AAACATGGGCCTGCCCCAGAA	0.468000														45			16		0	0	0.004007	0	0
ENTHD1	150350	broad.mit.edu	37	22	40140246	40140246	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr22:40140246G>A	uc003ayg.3	-	6	1513	c.1262C>T	c.(1261-1263)tCc>tTc	p.S421F		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	421										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					AGATGACATGGATAAAGGAGA	0.413000														38			13		0	0	0.002450	0	0
INSR	3643	broad.mit.edu	37	19	7117304	7117304	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:7117304G>A	uc002mgd.1	-	21	4021	c.3912C>T	c.(3910-3912)ttC>ttT	p.F1304F	INSR_uc002mge.1_Silent_p.F1292F	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1304					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)	CCTCGCTGTGGAAGAACGACA	0.567000														300			122		0	0	0.003610	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961993	73961993	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chrX:73961993G>A	uc004eby.3	-	2	3016	c.2399C>T	c.(2398-2400)tCt>tTt	p.S800F		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	800					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						AACATTAGCAGATGATAAAGG	0.403000														117			40		0	0	0.007835	0	0
APCS	325	broad.mit.edu	37	1	159557927	159557927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:159557927C>T	uc001ftv.3	+	1	197	c.101C>T	c.(100-102)tCt>tTt	p.S34F		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	34	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)					CCTAGAGAATCTGTTACTGAT	0.423000														77			98		0	0	0.003610	0	0
TM9SF2	9375	broad.mit.edu	37	13	100190110	100190111	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:100190110_100190111CC>TT	uc001voj.1	+	5	842_843	c.709_710CC>TT	c.(709-711)ccg>TTg	p.P237L	TM9SF2_uc010afz.1_Intron	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA.	237					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)					TAAACTTGAACCGAAAAGGTAA	0.317000														18			4		0	0	0.004672	0	0
SNAP91	9892	broad.mit.edu	37	6	84269849	84269849	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:84269849C>T	uc021zcf.1	-	26	2635	c.2605G>A	c.(2605-2607)Gga>Aga	p.G869R	SNAP91_uc011dzd.2_Missense_Mutation_p.G367R|SNAP91_uc003pka.3_Missense_Mutation_p.G867R|SNAP91_uc011dze.2_Missense_Mutation_p.G867R|SNAP91_uc003pkc.3_Missense_Mutation_p.G839R|SNAP91_uc003pkd.3_Missense_Mutation_p.G562R|SNAP91_uc003pkb.3_Missense_Mutation_p.G778R	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	869	Pro-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)		GCGGCAGCTCCAAAGGGGGGC	0.507000														35			20		0	0	0.003330	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42437981	42437981	+	Missense_Mutation	SNP	C	T	T	rs149948316		TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr15:42437981C>T	uc001zoz.3	-	14	1747	c.1655G>A	c.(1654-1656)cGg>cAg	p.R552Q	PLA2G4F_uc010bcq.3_5'Flank|PLA2G4F_uc001zoy.3_Missense_Mutation_p.R184Q|PLA2G4F_uc001zpa.3_Missense_Mutation_p.R303Q|PLA2G4F_uc010bcr.3_Missense_Mutation_p.R303Q|PLA2G4F_uc010bcs.3_Missense_Mutation_p.R339Q	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	552	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GTAACAGATCCGGGGTTCAGG	0.627000														47			21		0	0	0.010504	0	0
FAM22D	728130	broad.mit.edu	37	10	89120453	89120453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:89120453G>A	uc001kes.3	+	1	928	c.382G>A	c.(382-384)Gct>Act	p.A128T	FAM22D_uc009xte.1_Missense_Mutation_p.A128T	NM_001009610	NP_001009610	Q5VT03	FA22D_HUMAN	Homo sapiens family with sequence similarity 22, member D (FAM22D), mRNA.	128										large_intestine(2)|lung(2)	4						TGGGGCCGGGGCTTCCAACGT	0.647000														48			12		0	0	0.001855	0	0
ARMC4	55130	broad.mit.edu	37	10	28225687	28225687	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:28225687C>T	uc009xky.3	-	14	2318	c.2220G>A	c.(2218-2220)tgG>tgA	p.W740*	ARMC4_uc010qds.2_Nonsense_Mutation_p.W265*|ARMC4_uc010qdt.2_Nonsense_Mutation_p.W432*|ARMC4_uc001itz.3_Nonsense_Mutation_p.W740*	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	740							binding	p.W740*(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGGAACATTTCCATATAGCCC	0.443000														100			29		0	0	0.009535	0	0
DDR1	780	broad.mit.edu	37	6	30863237	30863237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:30863237C>T	uc003nrv.3	+	10	1612	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S	DDR1_uc010jse.3_Intron|DDR1_uc003nrq.3_Intron|DDR1_uc003nrr.3_Missense_Mutation_p.P524S|DDR1_uc003nrs.3_Missense_Mutation_p.P524S|DDR1_uc003nrt.3_Intron|DDR1_uc011dms.2_Intron|DDR1_uc003nru.3_Intron|DDR1_uc003nry.2_Intron|DDR1_uc003nrx.2_Intron|DDR1_uc003nrw.1_Silent_p.P295P	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	524	Gly/Pro-rich.				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)	CGCCCGTCCCCCTCGAGGCCC	0.677000														169			71		0	0	0.003610	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105896936	105896936	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:105896936A>G	uc002tcq.3	-	5	1450	c.1366T>C	c.(1366-1368)Tat>Cat	p.Y456H	TGFBRAP1_uc010fjc.3_Missense_Mutation_p.Y226H|TGFBRAP1_uc002tcr.4_Missense_Mutation_p.Y456H	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	456					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						GCCTCTGCATACAGTTTGAGC	0.537000														39			18		0	0	0.007413	0	0
UBC	7316	broad.mit.edu	37	17	21731246	21731246	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:21731246A>G	uc002gyy.3	+	1	673	c.548A>G	c.(547-549)cAa>cGa	p.Q183R				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	335	Ubiquitin-like 3.				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)		GCCAAGATCCAAGATAAAGAA	0.522000														53			19		0	0	0.002299	0	0
ABCG1	9619	broad.mit.edu	37	21	43716492	43716492	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr21:43716492C>G	uc011aev.2	+	14	2134	c.2060C>G	c.(2059-2061)gCa>gGa	p.A687G	ABCG1_uc002zam.3_Missense_Mutation_p.A642G|ABCG1_uc002zan.3_Missense_Mutation_p.A666G|ABCG1_uc002zao.3_Missense_Mutation_p.A661G|ABCG1_uc002zap.3_Missense_Mutation_p.A664G|ABCG1_uc002zaq.3_Missense_Mutation_p.A676G|ABCG1_uc002zar.3_Missense_Mutation_p.A675G|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.	676					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)	AAAATCCGGGCAGAGAGGTAA	0.522000														18			6		0	0	0.001168	0	0
TOR2A	27433	broad.mit.edu	37	9	130494359	130494359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:130494359G>A	uc004brs.4	-	4	999	c.920C>T	c.(919-921)tCc>tTc	p.S307F	TOR2A_uc022bnq.1_Missense_Mutation_p.S145F|TOR2A_uc004bru.4_Missense_Mutation_p.S145F|TOR2A_uc004brv.4_3'UTR|TOR2A_uc011maj.2_3'UTR|TOR2A_uc004brt.4_3'UTR|TOR2A_uc004brw.4_3'UTR	NM_001085347	NP_001078816	Q5JU69	TOR2A_HUMAN	Homo sapiens torsin family 2, member A (TOR2A), transcript variant 1, mRNA.	307					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity			NS(1)|endometrium(2)	3						GCAGCCGTTGGAGGAGAAGAG	0.627000														61			31		0	0	0.002445	0	0
NPL	80896	broad.mit.edu	37	1	182787806	182787806	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:182787806C>T	uc009wyb.3	+	8	1016	c.588C>T	c.(586-588)ttC>ttT	p.F196F	NPL_uc010pnx.2_Silent_p.F177F|NPL_uc010pny.2_Intron|NPL_uc001gpp.4_Silent_p.F196F|NPL_uc021pfz.1_Silent_p.F196F|NPL_uc009wyc.3_Silent_p.F196F|NPL_uc001gpo.2_Silent_p.F177F	NM_030769	NP_110396	Q9BXD5	NPL_HUMAN	Homo sapiens N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) (NPL), transcript variant 1, mRNA.	196					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						AGTTTGCTTTCCTTTTTGGGG	0.453000														27			16		0	0	0.006122	0	0
AKAP8	10270	broad.mit.edu	37	19	15483971	15483971	+	Silent	SNP	A	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:15483971A>G	uc002nav.3	-	4	622	c.552T>C	c.(550-552)gaT>gaC	p.D184D	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.	184					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						GCATGAAGCCATCAAGGGAGC	0.682000														45			17		0	0	0.010504	0	0
ROS1	6098	broad.mit.edu	37	6	117710693	117710693	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:117710693C>T	uc003pxp.1	-	11	1778	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	ROS1_uc011ebi.1_Intron|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	527					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)		ACGATGAATTCATTAAAAGAC	0.448000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									26			18		0	0	0.007413	0	0
KATNB1	10300	broad.mit.edu	37	16	57775705	57775705	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:57775705C>T	uc002eml.1	+	2	521	c.147C>T	c.(145-147)tcC>tcT	p.S49S		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	Homo sapiens katanin p80 (WD repeat containing) subunit B 1 (KATNB1), mRNA.	49	Interaction with centrosomes.|Interaction with dynein (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)				ACCTGTGGTCCATCAACAAGC	0.662000														16			5		0	0	0.000602	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645996	51645996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:51645996C>T	uc002pvv.1	+	0	439	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	SIGLEC7_uc002pvw.1_Missense_Mutation_p.R124C|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Missense_Mutation_p.R124C	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	124					cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.R124C(2)|p.R124H(1)		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)		ATACTTCTTTCGTATGGAGAA	0.478000														51			31		0	0	0.007291	0	0
OR51B6	390058	broad.mit.edu	37	11	5373574	5373574	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:5373574C>T	uc010qzb.2	+	0	837	c.837C>T	c.(835-837)ttC>ttT	p.F279F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATCCACTTCCTTTTCCCAC	0.393000														46			28		0	0	0.005443	0	0
OR5P2	120065	broad.mit.edu	37	11	7818017	7818017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr11:7818017G>A	uc001mfp.1	-	0	473	c.473C>T	c.(472-474)tCc>tTc	p.S158F		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	158					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)		AAAATAGAAGGAAGTAGTATA	0.393000														26			24		0	0	0.005443	0	0
PCID2	55795	broad.mit.edu	37	13	113838775	113838775	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:113838775G>A	uc021rmt.1	-	8	813	c.732C>T	c.(730-732)ccC>ccT	p.P244P	PCID2_uc001vtb.2_Silent_p.P23P|PCID2_uc021rmq.1_Silent_p.P190P|PCID2_uc021rmr.1_Silent_p.P190P|PCID2_uc021rms.1_Silent_p.P190P	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.	190					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CTCTAATTAGGGGTTTACATA	0.338000														20			8		0	0	0.003080	0	0
POTEG	404785	broad.mit.edu	37	14	19553712	19553712	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:19553712G>T	uc001vuz.1	+	0	348	c.296G>T	c.(295-297)gGc>gTc	p.G99V	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	99								p.M98I(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGCAAGATGGGCAAGTGGTGC	0.622000														275			51		1.67886e-27	1.72293e-27	0.003610	1	0
ADH6	130	broad.mit.edu	37	4	100134872	100134872	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr4:100134872C>T	uc003huo.2	-	2	247	c.153G>A	c.(151-153)atG>atA	p.M51I	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_Intron|ADH6_uc003hup.4_Missense_Mutation_p.M51I|ADH6_uc010ile.3_Missense_Mutation_p.M51I	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	51					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)	CCAACACTTTCATCTCTGTAC	0.488000														40			22		0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179432379	179432379	+	Silent	SNP	T	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:179432379T>C	uc021vsy.1	-	274	71001	c.70776A>G	c.(70774-70776)gaA>gaG	p.E23592E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.E17287E|TTN_uc021vta.1_Silent_p.E17220E|TTN_uc021vtb.1_Silent_p.E17095E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24519	Fibronectin type-III 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)			TGACTCTGAATTCATATCTTT	0.398000														55			24		0	0	0.003954	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110424614	110424614	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr8:110424614G>A	uc003yne.3	+	19	2310	c.2206G>A	c.(2206-2208)Gga>Aga	p.G736R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	736					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)			ACGACCATATGGAGATATTTT	0.343000										HNSCC(38;0.096)				16			5		0	0	0.000602	0	0
OR2G3	81469	broad.mit.edu	37	1	247769028	247769028	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:247769028C>T	uc010pyz.2	+	0	141	c.141C>T	c.(139-141)atC>atT	p.I47I		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	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)			CCATAATCATCATCTCATATC	0.458000														213			66		0	0	0.003610	0	0
ASXL2	55252	broad.mit.edu	37	2	25965059	25965059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:25965059G>A	uc002rgs.2	-	11	4368	c.4147C>T	c.(4147-4149)Cct>Tct	p.P1383S	ASXL2_uc002rgt.1_Missense_Mutation_p.P866S	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	1383					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)					GCCTGAACAGGAATGGTCTGG	0.502000														91			24		0	0	0.004656	0	0
ZNF536	9745	broad.mit.edu	37	19	30935979	30935979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:30935979G>A	uc002nsu.1	+	1	1648	c.1510G>A	c.(1510-1512)Gag>Aag	p.E504K	ZNF536_uc010edd.1_Missense_Mutation_p.E504K	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	504					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)					CAGCTGCATCGAGCGGCTGCA	0.652000														52			21		0	0	0.010504	0	0
EDDM3A	10876	broad.mit.edu	37	14	21216049	21216049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:21216049G>A	uc021rom.1	+	0	310	c.310G>A	c.(310-312)Gag>Aag	p.E104K	EDDM3A_uc001vyc.3_Missense_Mutation_p.E104K	NM_006683	NP_006674	Q14507	EP3A_HUMAN	Homo sapiens epididymal protein 3A (EDDM3A), mRNA.	104					sperm displacement	extracellular space				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						CAAAGTACTCGAGTGTCACTG	0.443000														29			9		0	0	0.004482	0	0
MTUS2	23281	broad.mit.edu	37	13	30075288	30075288	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr13:30075288G>A	uc001usl.4	+	12	3941	c.3883G>A	c.(3883-3885)Gaa>Aaa	p.E1295K	MTUS2_uc001usm.4_Missense_Mutation_p.E264K|MTUS2_uc010aau.3_Missense_Mutation_p.E174K|MTUS2_uc010tdq.2_Missense_Mutation_p.E47K	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	1285						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						ACAGCAGAACGAAGACCTCAA	0.428000														42			19		0	0	0.010504	0	0
GPR3	2827	broad.mit.edu	37	1	27720803	27720803	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:27720803G>A	uc001bod.3	+	1	596	c.501G>A	c.(499-501)ctG>ctA	p.L167L	GPR3_uc021ojv.1_Silent_p.L167L	NM_005281	NP_005272	P46089	GPR3_HUMAN	Homo sapiens G protein-coupled receptor 3 (GPR3), mRNA.	167					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)		CCCTGGGCCTGGGGCTGCTGC	0.562000														114			56		0	0	0.003610	0	0
NOVA1	4857	broad.mit.edu	37	14	26917978	26917978	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:26917978G>A	uc001wqa.3	-	5	1131	c.345C>T	c.(343-345)atC>atT	p.I115I	NOVA1_uc001wpy.3_Silent_p.I237I|NOVA1_uc001wpz.3_Silent_p.I213I	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	240	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)		TCTTCTGGATGATAAGTTCAA	0.468000														49			33		0	0	0.003755	0	0
GORASP2	26003	broad.mit.edu	37	2	171804874	171804874	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:171804874C>T	uc002ugk.3	+	1	893	c.78C>T	c.(76-78)tcC>tcT	p.S26S	GORASP2_uc002ugj.3_5'UTR|GORASP2_uc010zdl.2_Silent_p.S38S|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.	26	PDZ.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						AAGAAAATTCCCCAGGACACA	0.328000														36			11		0	0	0.002450	0	0
PLCE1	51196	broad.mit.edu	37	10	96030337	96030337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr10:96030337G>A	uc001kjk.3	+	17	5118	c.4484G>A	c.(4483-4485)cGa>cAa	p.R1495Q	PLCE1_uc010qnx.2_Missense_Mutation_p.R1479Q|PLCE1_uc001kjm.3_Missense_Mutation_p.R1187Q	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1495	PI-PLC X-box.				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	p.R1495Q(4)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCTCAGCAACGAAAAATGGCA	0.418000														52			22		0	0	0.001882	0	0
EDDM3A	10876	broad.mit.edu	37	14	21216051	21216051	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:21216051G>A	uc021rom.1	+	0	312	c.312G>A	c.(310-312)gaG>gaA	p.E104E	EDDM3A_uc001vyc.3_Silent_p.E104E	NM_006683	NP_006674	Q14507	EP3A_HUMAN	Homo sapiens epididymal protein 3A (EDDM3A), mRNA.	104					sperm displacement	extracellular space				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						AAGTACTCGAGTGTCACTGGG	0.448000														26			9		0	0	0.006214	0	0
TBC1D3B	414059	broad.mit.edu	37	17	34499226	34499226	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr17:34499226C>T	uc002hky.2	-	6	635	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	DQ571391_uc002hla.1_5'Flank|DQ593188_uc021tvb.1_5'Flank|DQ586142_uc002hlc.3_5'Flank|DQ575686_uc021tvc.1_5'Flank|DQ580080_uc021tvd.1_5'Flank	NM_001001417	NP_001001417	A6NDS4	TBC3B_HUMAN	Homo sapiens TBC1 domain family, member 3B (TBC1D3B), mRNA.	162	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGTTCCGTATCGATCCCTGAA	0.567000														553			48		0	0	0.003610	0	0
FAM171B	165215	broad.mit.edu	37	2	187626570	187626570	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr2:187626570C>T	uc002ups.3	+	7	1613	c.1501C>T	c.(1501-1503)Cta>Tta	p.L501L	FAM171B_uc002upr.1_Silent_p.L468L|FAM171B_uc002upt.3_5'UTR	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	501						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TAACAACAATCTATCTTCATC	0.388000														20			13		0	0	0.001368	0	0
PTPRK	5796	broad.mit.edu	37	6	128410983	128410983	+	Silent	SNP	C	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:128410983C>T	uc003qbk.3	-	7	1684	c.1317G>A	c.(1315-1317)aaG>aaA	p.K439K	PTPRK_uc010kfc.3_Silent_p.K439K|PTPRK_uc003qbj.3_Silent_p.K439K|PTPRK_uc011ebu.2_Silent_p.K439K|PTPRK_uc003qbl.1_Silent_p.K309K|PTPRK_uc011ebv.1_Silent_p.K439K	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	439	Fibronectin type-III 2.				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)		AACAGTCTGCCTTGCTCTCGT	0.478000														25			21		0	0	0.008871	0	0
MUC16	94025	broad.mit.edu	37	19	9005631	9005631	+	Silent	SNP	G	A	A			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr19:9005631G>A	uc002mkp.3	-	45	39979	c.39775C>T	c.(39775-39777)Ctg>Ttg	p.L13259L	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.L76L|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13261	SEA 8.				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						AGCTGGCTCAGCTCCCAGTAT	0.562000														112			40		0	0	0.008740	0	0
SORT1	6272	broad.mit.edu	37	1	109896997	109896998	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:109896997_109896998insC	uc001dxm.2	-	4	748_749	c.699_700insG	c.(697-702)ctcagcfs	p.L233fs	SORT1_uc010ovi.2_Frame_Shift_Ins_p.L97fs|SORT1_uc009wfb.2_Frame_Shift_Ins_p.L97fs	NM_002959	NP_002950	Q99523	SORT_HUMAN	Homo sapiens sortilin 1 (SORT1), transcript variant 1, mRNA.	233					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)		ACTTCAGTGCTGAGAGCTAAAA	0.371													---	290	---	---	7	---					
OR10J1	26476	broad.mit.edu	37	1	159410033	159410033	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr1:159410033delT	uc010piv.2	+	0	522	c.485delT	c.(484-486)attfs	p.I162fs	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	162					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)					GCCTGCAGCATTGGGCTGATT	0.502													---	116	---	---	136	---					
NT5DC2	64943	broad.mit.edu	37	3	52563336	52563337	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr3:52563336_52563337insG	uc003den.3	-	1	286_287	c.246_247insC	c.(244-249)cccgagfs	p.P82fs	NT5DC2_uc003dem.3_5'Flank|NT5DC2_uc010hmi.3_Frame_Shift_Ins_p.P82fs|NT5DC2_uc010hmj.3_5'UTR|NT5DC2_uc003deo.3_Frame_Shift_Ins_p.P45fs	NM_001134231	NP_001127703	Q9H857	NT5D2_HUMAN	Homo sapiens 5'-nucleotidase domain containing 2 (NT5DC2), transcript variant 1, mRNA.	45							hydrolase activity|metal ion binding	p.Y81C(1)		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)		CTGCAGACCTCGGGGGGCAGGA	0.594													---	16	---	---	8	---					
MAS1	4142	broad.mit.edu	37	6	160328707	160328731	+	Frame_Shift_Del	DEL	CGCTATGCCCATGAGACTCCTTTAC	-	-	rs142248825	by1000genomes	TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr6:160328707_160328731delCGCTATGCCCATGAGACTCCTTTAC	uc003qsz.3	+	0	734_758	c.720_744delCGCTATGCCCATGAGACTCCTTTAC	c.(718-744)ttcgctatgcccatgagactcctttacfs	p.F240fs		NM_002377	NP_002368	P04201	MAS_HUMAN	Homo sapiens MAS1 oncogene (MAS1), mRNA.	240					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		TCCTCATCTTCGCTATGCCCATGAGACTCCTTTACCTGCTGTACT	0.467													---	22	---	---	11	---					
AK296065	0	broad.mit.edu	37	7	150773331	150773332	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr7:150773331_150773332insC	uc011kvf.2	-	0	286_287	c.113_114insG	c.(112-114)ggcfs	p.G38fs	SLC4A2_uc022apz.1_Intron|SLC4A2_uc003wit.4_Intron|SLC4A2_uc011kve.2_Intron|SLC4A2_uc003wiu.4_Intron					SubName: Full=cDNA FLJ59028;																		ATCTGGAAAGGCCCCCCCACTT	0.604													---	62	---	---	12	---					
SVEP1	79987	broad.mit.edu	37	9	113244641	113244642	+	Splice_Site	INS	-	T	T			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr9:113244641_113244642insT	uc010mtz.3	-	11	2507	c.2170_splice	c.e11+1	p.G724_splice	SVEP1_uc010mua.1_Splice_Site_p.G724_splice|SVEP1_uc004beu.2_Splice_Site_p.G724_splice	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	724	HYR 2.				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						AAGACAATACCTTTTATGACAA	0.396													---	18	---	---	13	---					
LIMA1	51474	broad.mit.edu	37	12	50571483	50571496	+	Frame_Shift_Del	DEL	CCCTTCCTCCAAGG	-	-			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:50571483_50571496delCCCTTCCTCCAAGG	uc001rwj.4	-	10	1805_1818	c.1631_1644delCCTTGGAGGAAGGG	c.(1630-1644)gccttggaggaagggfs	p.A544fs	LIMA1_uc001rwg.4_Frame_Shift_Del_p.A242fs|LIMA1_uc001rwh.4_Frame_Shift_Del_p.A383fs|LIMA1_uc001rwi.4_Frame_Shift_Del_p.A385fs|LIMA1_uc001rwk.4_Frame_Shift_Del_p.A545fs|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.	544					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						ACATTTTGATCCCTTCCTCCAAGGCACTTCCTGA	0.514													---	110	---	---	30	---					
ESYT1	23344	broad.mit.edu	37	12	56527952	56527952	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr12:56527952delC	uc001sjr.3	+	13	1680	c.1562delC	c.(1561-1563)actfs	p.T521fs	ESYT1_uc001sjq.3_Frame_Shift_Del_p.T511fs	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	511	C2 2.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CAGGATGTGACTCAGGAGAGC	0.517													---	23	---	---	9	---					
NYNRIN	57523	broad.mit.edu	37	14	24879252	24879252	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr14:24879252delC	uc001wpf.4	+	3	2570	c.2252delC	c.(2251-2253)gccfs	p.A751fs		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	751					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						TGGGAGGGGGCCCCAAGGCAG	0.637													---	28	---	---	8	---					
VPS35	55737	broad.mit.edu	37	16	46715405	46715406	+	Frame_Shift_Del	DEL	GG	-	-			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:46715405_46715406delGG	uc002eef.4	-	3	305_306	c.206_207delCC	c.(205-207)gccfs	p.A69fs	VPS35_uc002eed.3_5'Flank|VPS35_uc002eee.3_Frame_Shift_Del_p.A30fs	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA.	69					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CATCAGAAATGGCCATATCTTT	0.371													---	43	---	---	7	---					
MON1B	22879	broad.mit.edu	37	16	77228727	77228733	+	Frame_Shift_Del	DEL	CTGTGTG	-	-			TCGA-EE-A182-06A-11D-A196-08	TCGA-EE-A182-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a65379a5-49cd-4ac3-9f70-1075b1783b1f	6e821d80-f443-4093-99c3-4cfcb6b06d34	g.chr16:77228727_77228733delCTGTGTG	uc002fez.3	+	3	1301_1307	c.971_977delCTGTGTG	c.(970-978)cctgtgtgcfs	p.P324fs	MON1B_uc010vnf.2_Frame_Shift_Del_p.P215fs|MON1B_uc010vng.2_Frame_Shift_Del_p.P178fs|MON1B_uc002ffa.3_Frame_Shift_Del_p.P204fs	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	Homo sapiens MON1 homolog B (yeast) (MON1B), mRNA.	324							protein binding	p.V325V(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCTTGGGCACCTGTGTGCCTGCCCCGC	0.638													---	55	---	---	16	---