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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
BMPER	168667	broad.mit.edu	37	7	34094871	34094871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:34094871C>T	ENST00000297161.2	+	10	1257	c.883C>T	c.(883-885)Cca>Tca	p.P295S	BMPER_ENST00000426693.1_Missense_Mutation_p.P295S	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	295					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						ACGAGTGCCCCCAGAAGACAT	0.493000													49	110					0	0	0.000781405	0	0
PFAS	5198	broad.mit.edu	37	17	8157564	8157564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:8157564C>T	ENST00000314666.6	+	3	356	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	75					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGATGTTGCTCGGGAGTCCTG	0.582000													25	40					0	0	0.00047179	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73175217	73175217	+	Silent	SNP	T	T	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:73175217T>C	ENST00000286657.4	-	15	2112	c.2076A>G	c.(2074-2076)gaA>gaG	p.E692E		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	692	Cys-rich.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TAGAACCAATTTCTTTATCAC	0.453000													32	45					0	0	0.000692331	0	0
GCSAML	148823	broad.mit.edu	37	1	247737658	247737658	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:247737658G>A	ENST00000366491.2	+	7	819	c.322G>A	c.(322-324)Gat>Aat	p.D108N	GCSAML_ENST00000366489.1_Missense_Mutation_p.D108N|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000463359.1_Missense_Mutation_p.D96N|GCSAML_ENST00000527084.1_Missense_Mutation_p.D96N|GCSAML_ENST00000536561.1_Missense_Mutation_p.D108N|GCSAML_ENST00000366488.4_Missense_Mutation_p.D128N|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000527541.1_Missense_Mutation_p.D96N					germinal center-associated, signaling and motility-like																		CCATGAGCATGATTATGAAGT	0.438000													30	33					0	0	0.000491102	0	0
SLAMF9	89886	broad.mit.edu	37	1	159922291	159922291	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:159922291A>T	ENST00000368093.3	-	3	541	c.425T>A	c.(424-426)tTt>tAt	p.F142Y	SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	142	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAACTCTCAAAGTTCACAGT	0.542000													40	51					0	0	0.000781405	0	0
MAVS	57506	broad.mit.edu	37	20	3846632	3846632	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr20:3846632G>A	ENST00000428216.2	+	7	1589	c.1461G>A	c.(1459-1461)gcG>gcA	p.A487A	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Silent_p.A346A	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	487					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GGCCACCTGCGGACCCGGATG	0.662000													27	34					0	0	0.00106085	0	0
RIMBP2	23504	broad.mit.edu	37	12	130926407	130926407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:130926407G>A	ENST00000261655.4	-	8	1602	c.1439C>T	c.(1438-1440)tCc>tTc	p.S480F	RIMBP2_ENST00000536002.1_Missense_Mutation_p.S388F|RIMBP2_ENST00000535703.1_Missense_Mutation_p.S388F	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	480						cell junction|synapse		p.S480C(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGGCAACGTGGAGAACTCCAC	0.612000													7	22					0	0	0.000274275	0	0
SMARCA4	6597	broad.mit.edu	37	19	11134211	11134211	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:11134211G>A	ENST00000358026.2	+	20	3161	c.2877G>A	c.(2875-2877)gaG>gaA	p.E959E	SMARCA4_ENST00000541122.2_Silent_p.E959E|SMARCA4_ENST00000344626.4_Silent_p.E959E|SMARCA4_ENST00000444061.3_Silent_p.E959E|SMARCA4_ENST00000429416.3_Silent_p.E959E|SMARCA4_ENST00000413806.3_Silent_p.E959E|SMARCA4_ENST00000590574.1_Silent_p.E959E|SMARCA4_ENST00000589677.1_Silent_p.E959E|SMARCA4_ENST00000450717.3_Silent_p.E959E	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	959					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|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	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGAATGAGGAGGAAACCATTC	0.572000			"""F, N, Mis"""		NSCLC								17	20					0	0	0.000958276	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138151	126138151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:126138151C>T	ENST00000299308.3	+	9	2140	c.2132C>T	c.(2131-2133)tCg>tTg	p.S711L	TMEM132B_ENST00000535886.1_Missense_Mutation_p.S223L	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	711						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)		AGTGATGGTTCGGTGACACCT	0.373000													58	33					0	0	0.000781405	0	0
STMN3	50861	broad.mit.edu	37	20	62275253	62275253	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr20:62275253G>A	ENST00000370053.1	-	3	228	c.147C>T	c.(145-147)gcC>gcT	p.A49A	STMN3_ENST00000540534.1_Silent_p.A38A	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	49					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			TCTGGCCTGAGGCCCGCTTGT	0.627000													35	60					0	0	0.000814825	0	0
SPEF2	79925	broad.mit.edu	37	5	35667215	35667215	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:35667215C>T	ENST00000440995.2	+	9	1209	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F	SPEF2_ENST00000356031.3_Silent_p.F403F|SPEF2_ENST00000509059.1_Silent_p.F403F|SPEF2_ENST00000282469.6_Silent_p.F403F			Q9C093	SPEF2_HUMAN	sperm flagellar 2	403					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)			AAGAACAATTCCTTAAAGAAA	0.308000													22	29					0	0	0.000586117	0	0
PDGFRA	5156	broad.mit.edu	37	4	55133778	55133778	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:55133778G>A	ENST00000257290.5	+	7	1322	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	331	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.E331*(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CAACCTGCATGAAGTCAAACA	0.428000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			41	36					0	0	0.000319135	0	0
MYH13	8735	broad.mit.edu	37	17	10209782	10209782	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:10209782C>T	ENST00000418404.3	-	36	5623	c.5460G>A	c.(5458-5460)gaG>gaA	p.E1820E	MYH13_ENST00000570743.1_Silent_p.E1820E|MYH13_ENST00000252172.4_Silent_p.E1820E			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1820					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP 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						CTACCCGGTTCTCCAGTTTCT	0.527000													86	129					0	0	0.000781405	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984772	41984772	+	Silent	SNP	T	T	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:41984772T>C	ENST00000333141.5	+	1	1060	c.963T>C	c.(961-963)caT>caC	p.H321H		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	321										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TGCCCCTGCATGTGCACGAGG	0.557000													27	38					0	0	0.000720815	0	0
CPNE5	57699	broad.mit.edu	37	6	36712904	36712904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:36712904C>T	ENST00000244751.2	-	18	1976	c.1352G>A	c.(1351-1353)gGc>gAc	p.G451D	CPNE5_ENST00000459703.1_5'UTR|CPNE5_ENST00000393189.2_Missense_Mutation_p.G159D	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	451	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GTACTGGGAGCCATCCTGCAC	0.602000													16	3					0	0	0.00074312	0	0
NLRP4	147945	broad.mit.edu	37	19	56370498	56370498	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:56370498T>A	ENST00000301295.6	+	3	2161	c.1739T>A	c.(1738-1740)aTt>aAt	p.I580N	NLRP4_ENST00000346986.5_Missense_Mutation_p.I580N|NLRP4_ENST00000587891.1_Missense_Mutation_p.I505N	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	580							ATP binding			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)		AACTTTCATATTATTGACAAC	0.423000													31	38					0	0	0.000491102	0	0
GPR171	29909	broad.mit.edu	37	3	150917042	150917042	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:150917042C>T	ENST00000309180.5	-	3	362	c.132G>A	c.(130-132)acG>acA	p.T44T	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	44						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACCTGTGATTCGTATTCTTCT	0.368000													35	62					0	0	0.000953801	0	0
PRF1	5551	broad.mit.edu	37	10	72358609	72358609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:72358609C>T	ENST00000441259.1	-	3	1028	c.868G>A	c.(868-870)Gcc>Acc	p.A290T	PRF1_ENST00000373209.2_Missense_Mutation_p.A290T	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	290	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TGGAAGGAGGCCGTCATCTTG	0.607000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				22	42					0	0	0.000229342	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138774396	138774396	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:138774396G>A	ENST00000242351.5	-	2	734	c.418C>T	c.(418-420)Caa>Taa	p.Q140*	ZC3HAV1_ENST00000471652.1_Nonsense_Mutation_p.Q140*|ZC3HAV1_ENST00000464606.1_Nonsense_Mutation_p.Q140*	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	140					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						GGATCACTTTGGAGGAGGAGC	0.408000													35	32					0	0	0.000953801	0	0
SPPL2B	56928	broad.mit.edu	37	19	2344608	2344608	+	RNA	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:2344608C>T	ENST00000452401.2	+	0	1311				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						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)		CCTGTGTGACCGGCCCTTCTC	0.652000													10	15					0	0	0.000673444	0	0
EIF1AX	1964	broad.mit.edu	37	X	20156737	20156737	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chrX:20156737T>C	ENST00000379607.5	-	2	223	c.20A>G	c.(19-21)aAa>aGa	p.K7R	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	7						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TTTACCTCCTTTACCTGATGG	0.299000													66	26					0	0	0.000781405	0	0
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													4	81					0	0	0.00024832	0	0
FAM47C	442444	broad.mit.edu	37	X	37027986	37027986	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chrX:37027986G>A	ENST00000358047.3	+	1	1555	c.1503G>A	c.(1501-1503)gaG>gaA	p.E501E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	501										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						TCTGCCCAGAGCCCCCCAAGA	0.612000													38	11					0	0	0.000953801	0	0
DNAJC11	55735	broad.mit.edu	37	1	6696305	6696305	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:6696305G>A	ENST00000377577.5	-	15	1649	c.1524_splice	c.e15-1	p.A509_splice	DNAJC11_ENST00000377573.5_Splice_Site_p.A419_splice|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000294401.7_Splice_Site_p.A457_splice|DNAJC11_ENST00000542246.1_Splice_Site_p.A471_splice|DNAJC11_ENST00000349363.6_Intron	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	509					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCAGCCCAGCCTGTAACAA	0.547000													18	27					0	0	0.000175454	0	0
FLT1	2321	broad.mit.edu	37	13	28893575	28893575	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr13:28893575C>T	ENST00000282397.4	-	24	3522	c.3271G>A	c.(3271-3273)Gaa>Aaa	p.E1091K	FLT1_ENST00000540678.1_Missense_Mutation_p.E309K|FLT1_ENST00000543394.1_Missense_Mutation_p.E114K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1091	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|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)	GAGAAGATTTCCCACAGCAAT	0.433000													4	15					0	0	0.00024832	0	0
IGHG3	3502	broad.mit.edu	37	14	106236041	106236041	+	RNA	SNP	T	T	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:106236041T>C	ENST00000390551.2	-	0	762																											GAGGGCTTTGTTGGAGACCTT	0.602000													129	199					0	0	0.000781405	0	0
WIPF2	147179	broad.mit.edu	37	17	38420972	38420972	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:38420972C>T	ENST00000323571.4	+	5	784	c.544C>T	c.(544-546)Cca>Tca	p.P182S	WIPF2_ENST00000583130.1_Missense_Mutation_p.P182S|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.P182S|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000536600.1_Intron	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	182	Poly-Pro.					cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CCCACCACCCCCAGGGCGGCG	0.647000										HNSCC(43;0.11)			26	24					0	0	0.000586117	0	0
ADORA1	134	broad.mit.edu	37	1	203134668	203134668	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:203134668C>T	ENST00000367236.4	+	3	1542	c.621C>T	c.(619-621)atC>atT	p.I207I	ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000337894.4_Silent_p.I207I|ADORA1_ENST00000309502.3_Silent_p.I207I|ADORA1_ENST00000367235.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	207					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TCTACCTAATCCGCAAGCAGC	0.552000													41	51					0	0	0.000374591	0	0
CWH43	80157	broad.mit.edu	37	4	48990547	48990547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:48990547C>T	ENST00000226432.4	+	2	280	c.97C>T	c.(97-99)Cct>Tct	p.P33S	CWH43_ENST00000513409.1_Missense_Mutation_p.P6S	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	33					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						CTATTACTTTCCTTTGCAAAC	0.348000													39	39					0	0	0.000374591	0	0
C17orf75	64149	broad.mit.edu	37	17	30661607	30661607	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:30661607C>G	ENST00000577809.1	-	8	801	c.752G>C	c.(751-753)aGt>aCt	p.S251T	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.S251T	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	251					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TCCTTGAAGACTGGCCACACT	0.473000													9	10					0	0	0.000274275	0	0
OR52R1	119695	broad.mit.edu	37	11	4825289	4825289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:4825289G>A	ENST00000380382.1	-	1	558	c.559C>T	c.(559-561)Cat>Tat	p.H187Y	OR52R1_ENST00000356069.2_Missense_Mutation_p.H108Y|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAAAGGCATGGATGAAGAAC	0.532000													9	54					0	0	0.000673444	0	0
AS3MT	57412	broad.mit.edu	37	10	104629931	104629931	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:104629931G>T	ENST00000369880.3	+	3	210	c.133G>T	c.(133-135)Gaa>Taa	p.E45*	C10ORF32_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenic (+3 oxidation state) methyltransferase	45					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		GCACATCCGGGAAGCCTTGCA	0.557000													10	30					3.07112e-06	3.7456e-05	0.000978159	1	0
GALNT9	50614	broad.mit.edu	37	12	132682434	132682434	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:132682434G>A	ENST00000328957.8	-	10	1567	c.1568C>T	c.(1567-1569)tCc>tTc	p.S523F	GALNT9_ENST00000397325.2_Missense_Mutation_p.S157F|GALNT9_ENST00000535228.1_Missense_Mutation_p.S274F|GALNT9_ENST00000541995.1_Missense_Mutation_p.S157F	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	523	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CAGACACTTGGAGTCAGGCAA	0.647000													11	5					0	0	0.000308642	0	0
BIRC3	330	broad.mit.edu	37	11	102195665	102195665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:102195665C>T	ENST00000263464.3	+	2	3175	c.425C>T	c.(424-426)cCa>cTa	p.P142L	BIRC3_ENST00000532808.1_Missense_Mutation_p.P142L	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	142					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TCAAACTCTCCATCAAATCCT	0.393000			T	MALT1	MALT								68	43					0	0	0.000781405	0	0
ZNF229	7772	broad.mit.edu	37	19	44934487	44934487	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:44934487G>A	ENST00000291187.4	-	6	773	c.451C>T	c.(451-453)Ctg>Ttg	p.L151L	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Silent_p.L157L	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGACTGTCCAGGGAATTCTCA	0.473000													39	58					0	0	0.000228196	0	0
DCAF8	50717	broad.mit.edu	37	1	160209930	160209930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:160209930G>A	ENST00000368073.3	-	4	714	c.280C>T	c.(280-282)Cga>Tga	p.R94*	DCAF8_ENST00000368074.1_Nonsense_Mutation_p.R94*|DCAF8_ENST00000326837.2_Nonsense_Mutation_p.R94*|DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000556710.1_Nonsense_Mutation_p.R248*			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	94						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						TCATGGACTCGATTTTCATCA	0.532000													10	14					0	0	0.000442599	0	0
CNOT6	57472	broad.mit.edu	37	5	179992944	179992944	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:179992944C>G	ENST00000393356.1	+	9	1108	c.684C>G	c.(682-684)atC>atG	p.I228M	CNOT6_ENST00000261951.4_Missense_Mutation_p.I228M			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	228					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	p.I228I(1)		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)		TTCAAGAAATCTTGAGCTGCA	0.428000													12	27					0	0	0.00010058	0	0
TTN	7273	broad.mit.edu	37	2	179422954	179422954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:179422954C>T	ENST00000589042.1	-	328	87351	c.87127G>A	c.(87127-87129)Gaa>Aaa	p.E29043K	TTN_ENST00000591111.1_Missense_Mutation_p.E27402K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E20170K|TTN_ENST00000342992.6_Missense_Mutation_p.E26475K|TTN_ENST00000460472.2_Missense_Mutation_p.E19978K|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E20103K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27402	Fibronectin type-III 111.						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)			ATATCAATTTCAGGTGGTTCT	0.318000													15	43					0	0	0.000219431	0	0
DNAH3	55567	broad.mit.edu	37	16	20963831	20963831	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:20963831C>T	ENST00000261383.3	-	56	11111	c.11112G>A	c.(11110-11112)agG>agA	p.R3704R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3704	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACATACTAATCCTCAGGTCAG	0.468000													18	31					0	0	0.000132079	0	0
ZNF608	57507	broad.mit.edu	37	5	124036878	124036878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:124036878G>A	ENST00000306315.5	-	2	1426	c.991C>T	c.(991-993)Cca>Tca	p.P331S	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	331						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GATGAAGATGGGGAAAAGTAG	0.517000													53	63					0	0	0.000781405	0	0
CCT8L2	150160	broad.mit.edu	37	22	17071966	17071966	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr22:17071966C>T	ENST00000359963.3	-	1	1734	c.1475G>A	c.(1474-1476)gGg>gAg	p.G492E		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	492					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTCCCACACCCCTTCCTGGGC	0.517000													61	87					0	0	0.000781405	0	0
SP140	11262	broad.mit.edu	37	2	231134564	231134564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:231134564C>T	ENST00000392045.3	+	14	1454	c.1340C>T	c.(1339-1341)tCa>tTa	p.S447L	SP140_ENST00000486687.2_Missense_Mutation_p.S371L|SP140_ENST00000350136.5_Missense_Mutation_p.S316L|SP140_ENST00000420434.3_Missense_Mutation_p.S420L|SP140_ENST00000417495.3_Missense_Mutation_p.S333L|SP140_ENST00000343805.6_Missense_Mutation_p.S387L	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	447					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GCGGAGCAATCAGCATATGAA	0.468000													24	17					0	0	0.000295444	0	0
SHROOM2	357	broad.mit.edu	37	X	9863352	9863352	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chrX:9863352G>A	ENST00000380913.3	+	4	1494	c.1404G>A	c.(1402-1404)caG>caA	p.Q468Q		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	468					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GCTGTGACCAGAAGCTGGGGA	0.672000													16	5					0	0	0.000308642	0	0
MYO3A	53904	broad.mit.edu	37	10	26490216	26490216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:26490216G>A	ENST00000265944.5	+	33	4734	c.4568G>A	c.(4567-4569)cGa>cAa	p.R1523Q	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1523					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|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						GAAGAAAAACGAAGACCAAGG	0.239000													10	12					0	0	0.000978159	0	0
PAMR1	25891	broad.mit.edu	37	11	35492184	35492184	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:35492184A>G	ENST00000378880.2	-	5	1122	c.677T>C	c.(676-678)tTt>tCt	p.F226S	PAMR1_ENST00000378878.3_Intron|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Missense_Mutation_p.F186S|PAMR1_ENST00000278360.3_Missense_Mutation_p.F226S	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	226	CUB.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GAAACCGTCAAAATTCTTGGA	0.488000													6	48					0	0	8.12818e-05	0	0
IGSF1	3547	broad.mit.edu	37	X	130408805	130408805	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chrX:130408805G>A	ENST00000370904.1	-	24	4402	c.3492C>T	c.(3490-3492)ttC>ttT	p.F1164F	IGSF1_ENST00000370903.3_Silent_p.F1178F|IGSF1_ENST00000361420.3_Silent_p.F1173F|IGSF1_ENST00000370910.1_Silent_p.F1164F			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1173	Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCCTAACTTGAACATGGTGC	0.488000													93	30					0	0	0.000781405	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515261	233515261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:233515261G>A	ENST00000366624.3	+	9	2770	c.2509G>A	c.(2509-2511)Gat>Aat	p.D837N	MLK4_ENST00000366622.1_Missense_Mutation_p.D283N	NM_032435.2	NP_115811.2																					GCTCACTCCGGATTTTTGTCC	0.517000													22	36					0	0	0.000295444	0	0
HTR7	3363	broad.mit.edu	37	10	92509229	92509229	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:92509229C>T	ENST00000371721.3	-	2	904	c.662G>A	c.(661-663)tGg>tAg	p.W221*	HTR7_ENST00000336152.3_Nonsense_Mutation_p.W221*|HTR7_ENST00000277874.6_Nonsense_Mutation_p.W221*|HTR7_ENST00000371719.2_Nonsense_Mutation_p.W221*			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	221					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	ATTCTGAGCCCATCCAAAGAG	0.488000													28	62					0	0	0.00106085	0	0
ZAN	7455	broad.mit.edu	37	7	100349564	100349564	+	RNA	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:100349564C>T	ENST00000542585.1	+	0	1984				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						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)			CAGAAAAACCCAACATGCCCT	0.478000													25	20					0	0	0.000184323	0	0
PLD1	5337	broad.mit.edu	37	3	171320999	171320999	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:171320999G>A	ENST00000356327.5	-	26	3050	c.2980C>T	c.(2980-2982)Cga>Tga	p.R994*	PLD1_ENST00000351298.4_Nonsense_Mutation_p.R1032*|PLD1_ENST00000342215.6_3'UTR	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	1032					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TCCTCAGCTCGAATGGGATCT	0.423000													22	46					0	0	0.000295444	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632252	156632252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:156632252G>A	ENST00000296518.7	+	6	1144	c.935G>A	c.(934-936)aGa>aAa	p.R312K	GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R312K|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R312K|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R312K|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R312K|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R312K|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R54K			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	312					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATGAACAGGAGAGACTTTCAA	0.378000													22	38					0	0	0.000586117	0	0
DNMT3B	1789	broad.mit.edu	37	20	31387068	31387068	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr20:31387068C>T	ENST00000328111.2	+	16	2014	c.1693C>T	c.(1693-1695)Cct>Tct	p.P565S	DNMT3B_ENST00000348286.2_Missense_Mutation_p.P545S|DNMT3B_ENST00000353855.2_Missense_Mutation_p.P545S|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000443239.3_Missense_Mutation_p.P503S|DNMT3B_ENST00000456297.2_Missense_Mutation_p.P469S|DNMT3B_ENST00000344505.4_Missense_Mutation_p.P545S|DNMT3B_ENST00000201963.3_Missense_Mutation_p.P557S	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	565					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAAGCTGTACCCTGCCATTCC	0.602000													15	16					0	0	0.00074312	0	0
FLG	2312	broad.mit.edu	37	1	152275651	152275651	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:152275651G>A	ENST00000368799.1	-	3	11746	c.11711C>T	c.(11710-11712)tCc>tTc	p.S3904F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3904	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGGTGAGAGGATCCGGGGTG	0.507000									Ichthyosis				28	30					0	0	0.000720815	0	0
PFAS	5198	broad.mit.edu	37	17	8157562	8157562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:8157562C>T	ENST00000314666.6	+	3	354	c.221C>T	c.(220-222)gCt>gTt	p.A74V	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	74					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GATGATGTTGCTCGGGAGTCC	0.577000													24	39					0	0	0.000375601	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1																						AGTACTGGAAGAACGTGGTTG	0.373000													4	22					0	0	0.00024832	0	0
OR51F2	119694	broad.mit.edu	37	11	4842967	4842967	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:4842967C>T	ENST00000322110.5	+	1	417	c.352C>T	c.(352-354)Cta>Tta	p.L118L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATGTTCTTTCTACACGGATT	0.473000													72	45					0	0	0.000781405	0	0
DAAM2	23500	broad.mit.edu	37	6	39847123	39847123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:39847123C>T	ENST00000538976.1	+	14	1897	c.1715C>T	c.(1714-1716)cCa>cTa	p.P572L	DAAM2_ENST00000398904.2_Missense_Mutation_p.P572L|DAAM2_ENST00000274867.4_Missense_Mutation_p.P572L	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	572	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCAGGTGCCCCACCTTGCCTC	0.692000													14	4					0	0	0.000219431	0	0
CWH43	80157	broad.mit.edu	37	4	48990562	48990562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:48990562G>A	ENST00000226432.4	+	2	295	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	CWH43_ENST00000513409.1_Missense_Mutation_p.E11K	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	38					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						GCAAACACTAGAACTCACTGG	0.363000													31	50					0	0	0.000491102	0	0
GCOM1	145781	broad.mit.edu	37	15	57921995	57921995	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:57921995G>A	ENST00000574161.1	+	6	740	c.621G>A	c.(619-621)agG>agA	p.R207R	GCOM1_ENST00000380561.2_Silent_p.R176R|GCOM1_ENST00000380569.2_Silent_p.R207R|GCOM1_ENST00000587652.1_Silent_p.R207R|GCOM1_ENST00000380560.2_Silent_p.R138R|GCOM1_ENST00000380568.3_Silent_p.R207R|MYZAP_ENST00000380565.4_Silent_p.R207R|POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000267853.5_Silent_p.R207R|GCOM1_ENST00000396180.1_Silent_p.R176R|GCOM1_ENST00000572390.1_Silent_p.R207R	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		207					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						ACAAGCTGAGGGAAAAGCAGA	0.418000													15	26					0	0	0.000219431	0	0
DNMBP	23268	broad.mit.edu	37	10	101643911	101643911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:101643911G>A	ENST00000342239.3	-	15	4017	c.3926C>T	c.(3925-3927)cCc>cTc	p.P1309L	DNMBP_ENST00000543621.1_Missense_Mutation_p.P531L|DNMBP_ENST00000540316.1_Missense_Mutation_p.P221L|DNMBP_ENST00000324109.4_Missense_Mutation_p.P1285L			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1285	SH3 5.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TTTTTCAGGGGGATACCTGGC	0.483000													31	54					0	0	0.000814825	0	0
OR5L1	219437	broad.mit.edu	37	11	55578951	55578951	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:55578951G>A	ENST00000333973.2	+	1	98	c.9G>A	c.(7-9)aaG>aaA	p.K3K		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				ACATGGGCAAGGAAAACTGCA	0.393000													68	50					0	0	0.000781405	0	0
MARCH1	55016	broad.mit.edu	37	4	164534466	164534466	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:164534466C>T	ENST00000503008.1	-	5	1218	c.242_splice	c.e5+1	p.R81_splice	MARCH1_ENST00000514618.1_Splice_Site_p.R81_splice|MARCH1_ENST00000274056.7_Splice_Site_p.R81_splice|MARCH1_ENST00000339875.5_Splice_Site_p.R64_splice	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	81					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAGCACTTACCTGCAGATGTC	0.423000													30	39					0	0	0.000279167	0	0
SCN3A	6328	broad.mit.edu	37	2	165947241	165947241	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:165947241T>A	ENST00000360093.3	-	28	5913	c.5422A>T	c.(5422-5424)Ata>Tta	p.I1808L	SCN3A_ENST00000409101.3_Missense_Mutation_p.I1759L|SCN3A_ENST00000283254.7_Missense_Mutation_p.I1808L|SCN3A_ENST00000540861.1_Missense_Mutation_p.I291L|AC013463.2_ENST00000431341.1_RNA	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1808						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)	GAGAACTCTATAAACTGGGTC	0.463000													68	64					0	0	0.000781405	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8670020	8670020	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:8670020C>T	ENST00000270328.4	-	3	578	c.312G>A	c.(310-312)gtG>gtA	p.V104V	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Silent_p.V104V			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	104					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCCAGTACTCCACGGAGACGT	0.687000													17	24					0	0	0.00074312	0	0
LEPREL1	55214	broad.mit.edu	37	3	189713218	189713218	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:189713218T>C	ENST00000319332.5	-	2	691	c.494A>G	c.(493-495)gAa>gGa	p.E165G	LEPREL1_ENST00000427335.2_5'UTR	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	165					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CACTGCTTTTTCGAGCTGGTT	0.398000													19	44					0	0	0.000229342	0	0
LY6D	8581	broad.mit.edu	37	8	143866801	143866801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:143866801C>T	ENST00000301263.4	-	3	298	c.223G>A	c.(223-225)Ggc>Agc	p.G75S	RP11-706C16.8_ENST00000510610.2_RNA|LY6D_ENST00000518434.1_5'UTR	NM_003695.2	NP_003686.1	Q14210	LY6D_HUMAN	lymphocyte antigen 6 complex, locus D	75	UPAR/Ly6.				cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding			large_intestine(1)|lung(3)|prostate(1)	5	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGACCTGGCCTTGCAGGGTG	0.647000													9	35					0	0	0.000274275	0	0
LILRA3	11026	broad.mit.edu	37	19	54803963	54803963	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:54803963G>A	ENST00000391745.1	-	6	417	c.101C>T	c.(100-102)cCc>cTc	p.P34L	LILRA3_ENST00000391744.3_Missense_Mutation_p.P17L|LILRA3_ENST00000251390.3_Missense_Mutation_p.P17L					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGGGTCCTGGGGTCCAGGCT	0.642000													23	29					0	0	0.00106085	0	0
C4orf45	152940	broad.mit.edu	37	4	159894284	159894284	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:159894284G>A	ENST00000434826.2	-	2	328	c.244C>T	c.(244-246)Cca>Tca	p.P82S	C4orf45_ENST00000508011.1_5'UTR	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	82										large_intestine(2)|lung(3)	5						TTATACTGTGGTATTCTCCAA	0.348000													16	28					0	0	0.00074312	0	0
DIRC2	84925	broad.mit.edu	37	3	122598219	122598219	+	Silent	SNP	C	C	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:122598219C>A	ENST00000261038.5	+	9	1829	c.1431C>A	c.(1429-1431)tcC>tcA	p.S477S		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	477					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		TGGTTGTCTCCGTTTAATAGC	0.463000													8	338					0.000274275	0.00332938	0.000274275	1	0
ORAI2	80228	broad.mit.edu	37	7	102079416	102079416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:102079416C>T	ENST00000356387.2	+	3	248	c.13C>T	c.(13-15)Ctt>Ttt	p.L5F	ORAI2_ENST00000478730.1_Missense_Mutation_p.L5F|ORAI2_ENST00000473939.1_Missense_Mutation_p.L5F|ORAI2_ENST00000403646.3_Missense_Mutation_p.L5F|ORAI2_ENST00000488996.1_Intron	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	5						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						GAGTGCTGAGCTTAACGTGCC	0.602000													48	83					0	0	0.000781405	0	0
DTL	51514	broad.mit.edu	37	1	212274335	212274335	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:212274335C>T	ENST00000366991.4	+	14	2317	c.2003C>T	c.(2002-2004)gCc>gTc	p.A668V	DTL_ENST00000542077.1_Missense_Mutation_p.A626V|DTL_ENST00000475419.1_3'UTR	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	668					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		GCCATGGCAGCCAAACGGAAG	0.502000													28	21					0	0	0.000184323	0	0
PLCH1	23007	broad.mit.edu	37	3	155232638	155232638	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:155232638G>A	ENST00000460012.1	-	12	1773	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F	PLCH1_ENST00000447496.2_Silent_p.F490F|PLCH1_ENST00000494598.1_Silent_p.F490F|PLCH1_ENST00000414191.1_Silent_p.F472F|PLCH1_ENST00000334686.6_Silent_p.F472F|PLCH1_ENST00000340059.7_Silent_p.F490F			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	490					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)			TTTTCCTTATGAAAGATTCCA	0.388000													20	25					0	0	0.000132079	0	0
MSR1	4481	broad.mit.edu	37	8	16001120	16001120	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:16001120C>T	ENST00000350896.3	-	8	1177	c.979_splice	c.e8-1	p.G327_splice	MSR1_ENST00000355282.2_Splice_Site_p.G327_splice|MSR1_ENST00000262101.5_Splice_Site_p.G327_splice|MSR1_ENST00000536385.1_Splice_Site_p.G101_splice|MSR1_ENST00000381998.4_Splice_Site_p.G327_splice|MSR1_ENST00000445506.2_Splice_Site_p.G345_splice	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	354	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TCCAGAATTTCCTTGAGAAAA	0.313000													29	31					0	0	0.000279167	0	0
CILP	8483	broad.mit.edu	37	15	65499217	65499217	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:65499217G>A	ENST00000261883.4	-	4	493	c.327C>T	c.(325-327)gtC>gtT	p.V109V		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	109					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GACTACCATGGACCACCTGGC	0.617000													18	27					0	0	0.00074312	0	0
MCRS1	10445	broad.mit.edu	37	12	49957222	49957222	+	Splice_Site	SNP	G	G	A	rs11544683		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:49957222G>A	ENST00000550165.1	-	8	931	c.666_splice	c.e8+1	p.S222_splice	MCRS1_ENST00000357123.4_Splice_Site_p.S235_splice|MCRS1_ENST00000546244.1_Splice_Site_p.S31_splice|MCRS1_ENST00000343810.4_Splice_Site_p.S222_splice			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	222					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CAGCCTTACCGATCCCACTTT	0.592000													11	11					0	0	0.000673444	0	0
CA3	761	broad.mit.edu	37	8	86357411	86357411	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:86357411G>A	ENST00000285381.2	+	5	554	c.471G>A	c.(469-471)caG>caA	p.Q157Q	RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	157					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCGAGTTCCAGATTTTCCTTG	0.323000													18	47					0	0	0.000229342	0	0
PKHD1	5314	broad.mit.edu	37	6	51936946	51936946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:51936946G>A	ENST00000371117.3	-	8	844	c.569C>T	c.(568-570)cCt>cTt	p.P190L	PKHD1_ENST00000340994.4_Missense_Mutation_p.P190L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	190	IPT/TIG 2.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAGAGAGCAAGGAGTAACCCA	0.393000													28	11					0	0	0.000339439	0	0
YLPM1	56252	broad.mit.edu	37	14	75266103	75266103	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:75266103G>A	ENST00000325680.7	+	5	4227	c.4103G>A	c.(4102-4104)aGg>aAg	p.R1368K	YLPM1_ENST00000238571.3_Missense_Mutation_p.R1173K|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TTCCGTGATAGGGGTGAGTTG	0.483000													74	134					0	0	0.000781405	0	0
MROH5	389690	broad.mit.edu	37	8	142476520	142476520	+	RNA	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:142476520G>A	ENST00000430863.1	-	0	2546					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		TGTCCAAGGGGATGGAGATGT	0.652000													9	12					0	0	0.000442599	0	0
SH3RF2	153769	broad.mit.edu	37	5	145379706	145379706	+	Missense_Mutation	SNP	G	G	A	rs140312306		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:145379706G>A	ENST00000511217.1	+	2	516	c.464G>A	c.(463-465)cGg>cAg	p.R155Q	SH3RF2_ENST00000359120.4_Missense_Mutation_p.R155Q			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	155	SH3 1.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCCTTCTCCGGAGACAGCTT	0.537000													36	40					0	0	0.000953801	0	0
SEPHS2	22928	broad.mit.edu	37	16	30455807	30455807	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:30455807G>A	ENST00000478753.2	-	1	1695	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A	SEPHS2_ENST00000500504.2_Silent_p.A414A|SEPHS2_ENST00000542752.1_Silent_p.A357A			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	414					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						CAATGATCCGGGCCGTTCGGT	0.537000													34	41					0	0	0.000814825	0	0
PPP6R3	55291	broad.mit.edu	37	11	68312311	68312311	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:68312311C>T	ENST00000393799.2	+	4	500	c.233C>T	c.(232-234)cCa>cTa	p.P78L	PPP6R3_ENST00000393801.3_Missense_Mutation_p.P78L|PPP6R3_ENST00000265636.5_Missense_Mutation_p.P78L|PPP6R3_ENST00000534534.1_5'UTR|PPP6R3_ENST00000529710.1_Missense_Mutation_p.P78L|PPP6R3_ENST00000265637.4_Missense_Mutation_p.P78L|PPP6R3_ENST00000393800.2_Missense_Mutation_p.P78L|PPP6R3_ENST00000527403.2_Missense_Mutation_p.P78L|PPP6R3_ENST00000524904.1_Missense_Mutation_p.P78L|PPP6R3_ENST00000524845.1_Missense_Mutation_p.P78L			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	78					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTAGGTATCCAAATATATCT	0.333000													10	13					0	0	0.000442599	0	0
SLX4	84464	broad.mit.edu	37	16	3641185	3641185	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:3641185G>A	ENST00000294008.3	-	12	3094	c.2454C>T	c.(2452-2454)ctC>ctT	p.L818L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	818	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTGACCTCAAGAGTTCCTGGA	0.493000								Direct reversal of damage					87	122					0	0	0.000781405	0	0
RGPD4	285190	broad.mit.edu	37	2	108487272	108487272	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:108487272G>A	ENST00000408999.3	+	20	2889	c.2812G>A	c.(2812-2814)Gaa>Aaa	p.E938K	RGPD4_ENST00000354986.4_Missense_Mutation_p.E938K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	938					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAAGGAAAGTGAAAAGCCTCT	0.408000													186	182					0	0	0.000781405	0	0
PRSS1	5644	broad.mit.edu	37	7	142458515	142458515	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:142458515C>T	ENST00000486171.1	+	2	167	c.150C>T	c.(148-150)ggC>ggT	p.G50G	PRSS1_ENST00000311737.7_Silent_p.G50G			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	50	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)			TCTGTGGTGGCTCCCTCATCA	0.562000													39	60					0	0	0.000437636	0	0
SLC9A5	6553	broad.mit.edu	37	16	67289714	67289714	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:67289714C>T	ENST00000299798.11	+	5	857	c.792C>T	c.(790-792)ctC>ctT	p.L264L	SLC9A5_ENST00000561472.2_Intron	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	264					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)		TTGCCTTCCTCCTGGCCCTGA	0.642000													7	5					0	0	8.12818e-05	0	0
ITGA4	3676	broad.mit.edu	37	2	182360543	182360543	+	Silent	SNP	A	A	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:182360543A>G	ENST00000397033.2	+	14	1849	c.1419A>G	c.(1417-1419)ttA>ttG	p.L473L		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	473					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ACGCTTCTTTAAGCCACCCTG	0.368000													39	38					0	0	0.000374591	0	0
MGAM	8972	broad.mit.edu	37	7	141734599	141734599	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:141734599C>T	ENST00000475668.2	+	16	1971	c.1917C>T	c.(1915-1917)tcC>tcT	p.S639S	MGAM_ENST00000549489.2_Silent_p.S639S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	639	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)	TGAGATGGTCCATCCCTGGCG	0.512000													19	23					0	0	0.000958276	0	0
CRB1	23418	broad.mit.edu	37	1	197404099	197404099	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:197404099G>A	ENST00000367397.1	+	5	2107	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K	CRB1_ENST00000535699.1_Missense_Mutation_p.E1012K|CRB1_ENST00000367399.2_Missense_Mutation_p.E924K|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.E517K|CRB1_ENST00000367400.3_Missense_Mutation_p.E1036K			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1036	EGF-like 10; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CACATGGCACGAAGTGACCCT	0.453000													31	67					0	0	0.000339439	0	0
RASAL2	9462	broad.mit.edu	37	1	178412155	178412155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:178412155G>A	ENST00000448150.3	+	8	2037	c.1219G>A	c.(1219-1221)Gga>Aga	p.G407R	RASAL2_ENST00000462775.1_Missense_Mutation_p.G277R|RASAL2_ENST00000367649.3_Missense_Mutation_p.G425R	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	277	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						ACCCAACAAAGGAAAGACAGG	0.428000													18	37					0	0	0.000566183	0	0
VNN3	55350	broad.mit.edu	37	6	133055411	133055411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:133055411G>A	ENST00000425515.2	-	2	397	c.325C>T	c.(325-327)Cca>Tca	p.P109S	VNN3_ENST00000367927.5_Missense_Mutation_p.P109S|VNN3_ENST00000414302.2_Missense_Mutation_p.P109S|VNN3_ENST00000423615.2_Missense_Mutation_p.P109S|VNN3_ENST00000519686.2_Missense_Mutation_p.P109S|VNN3_ENST00000427187.2_Missense_Mutation_p.P109S|VNN3_ENST00000392394.2_Missense_Mutation_p.P109S|VNN3_ENST00000417437.2_Missense_Mutation_p.P141S|VNN3_ENST00000392393.3_Missense_Mutation_p.P109S|VNN3_ENST00000207771.3_Missense_Mutation_p.P109S|VNN3_ENST00000509351.1_Missense_Mutation_p.P109S|VNN3_ENST00000275223.3_Missense_Mutation_p.P109S|VNN3_ENST00000450865.2_Missense_Mutation_p.P110S					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		TCTCTACATGGAATCCAGTTC	0.408000													24	7					0	0	0.000720815	0	0
PLB1	151056	broad.mit.edu	37	2	28802509	28802509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:28802509G>A	ENST00000422425.2	+	23	1578	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	PLB1_ENST00000327757.5_Missense_Mutation_p.E501K|PLB1_ENST00000329020.6_Missense_Mutation_p.E189K	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	501	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)					ACACTTTCAGGAAGACTGGAA	0.423000													22	53					0	0	0.000375601	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1808154	1808154	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:1808154C>T	ENST00000518288.1	+	5	520	c.357C>T	c.(355-357)atC>atT	p.I119I	ARHGEF10_ENST00000398564.1_Silent_p.I119I|ARHGEF10_ENST00000520359.1_Silent_p.I95I|ARHGEF10_ENST00000262112.6_Silent_p.I119I|ARHGEF10_ENST00000349830.3_Silent_p.I95I|ARHGEF10_ENST00000398560.1_Silent_p.I119I			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	119					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ATTCTGTCATCGACATCACGC	0.607000													37	51					0	0	0.000437636	0	0
COL14A1	7373	broad.mit.edu	37	8	121210141	121210141	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:121210141C>T	ENST00000297848.3	+	7	954	c.684C>T	c.(682-684)ctC>ctT	p.L228L	COL14A1_ENST00000247781.3_Intron|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Silent_p.L228L|COL14A1_ENST00000309791.4_Silent_p.L228L	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	228	VWFA 1.				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)			TCCGAAACCTCCCATATAAAG	0.363000													17	32					0	0	0.000422831	0	0
GNB2L1	10399	broad.mit.edu	37	5	180668622	180668622	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:180668622C>A	ENST00000512805.1	-	3	707	c.299G>T	c.(298-300)cGa>cTa	p.R100L	GNB2L1_ENST00000511900.1_Intron|GNB2L1_ENST00000511566.1_Missense_Mutation_p.R100L|GNB2L1_ENST00000456394.2_Missense_Mutation_p.R100L|GNB2L1_ENST00000505461.1_5'UTR|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000376817.4_Missense_Mutation_p.R56L	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	100				Missing (in Ref. 4; BAG53102).	apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		GCCCACAAATCGCCTCGTGGT	0.502000													27	32					1.17739e-12	1.44968e-11	0.000878237	1	0
KIRREL	55243	broad.mit.edu	37	1	158047904	158047904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:158047904C>T	ENST00000368173.3	+	3	730	c.326C>T	c.(325-327)tCt>tTt	p.S109F	KIRREL_ENST00000392272.2_Missense_Mutation_p.S109F|KIRREL_ENST00000416935.2_Intron|KIRREL_ENST00000360089.4_Missense_Mutation_p.S48F|KIRREL_ENST00000359209.6_Missense_Mutation_p.S109F	NM_018240.5	NP_060710.3	Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	109	Ig-like C2-type 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GCCCTGCGCTCTCGGCGGGCC	0.617000													54	54					0	0	0.000781405	0	0
DNAH10	196385	broad.mit.edu	37	12	124371734	124371734	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:124371734C>T	ENST00000409039.3	+	51	8540	c.8515C>T	c.(8515-8517)Cgg>Tgg	p.R2839W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2839	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAACAGTTTCCGGGAAGACCT	0.547000													6	4					0	0	3.59834e-05	0	0
FGFR4	2264	broad.mit.edu	37	5	176522661	176522661	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:176522661C>T	ENST00000292408.4	+	13	2003	c.1758C>T	c.(1756-1758)ttC>ttT	p.F586F	FGFR4_ENST00000393637.1_Silent_p.F546F|FGFR4_ENST00000502906.1_Silent_p.F586F|FGFR4_ENST00000292410.3_Silent_p.F546F|FGFR4_ENST00000393648.2_Silent_p.F518F	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	586	Protein kinase.				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)	CGCTCTCCTTCCCAGTCCTGG	0.697000										TSP Lung(9;0.080)			8	8					0	0	0.000274275	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	A	rs11554290		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:115256529T>A	ENST00000369535.4	-	3	435	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			65	77					0	0	0.000781405	0	0
MKX	283078	broad.mit.edu	37	10	27964468	27964468	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:27964468C>T	ENST00000375790.5	-	6	1286	c.854G>A	c.(853-855)gGa>gAa	p.G285E	MKX_ENST00000419761.1_Missense_Mutation_p.G285E			Q8IYA7	MKX_HUMAN	mohawk homeobox	285					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CTTATTGGATCCGTTTTCCAG	0.378000													12	29					0	0	0.000151284	0	0
FARP1	10160	broad.mit.edu	37	13	99042343	99042343	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr13:99042343C>T	ENST00000376586.2	+	10	1324	c.988C>T	c.(988-990)Ctc>Ttc	p.L330F	FARP1_ENST00000595437.1_Missense_Mutation_p.L330F|FARP1_ENST00000319562.6_Missense_Mutation_p.L330F			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	330					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			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)			CAAGCCCGTCCTCTTTAGCCG	0.527000													61	32					0	0	0.000781405	0	0
GPR176	11245	broad.mit.edu	37	15	40094248	40094248	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:40094248G>A	ENST00000299092.3	-	4	828	c.630C>T	c.(628-630)atC>atT	p.I210I	GPR176_ENST00000543580.1_Silent_p.I166I|GPR176_ENST00000560729.1_5'UTR|GPR176_ENST00000561100.1_Silent_p.I211I	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	211					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		TGACCGTGGTGATGTTATACA	0.542000											OREG0023053	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	21					0	0	0.00010058	0	0
RGS7	6000	broad.mit.edu	37	1	241262035	241262035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:241262035C>T	ENST00000366565.1	-	3	487	c.106G>A	c.(106-108)Gat>Aat	p.D36N	RGS7_ENST00000407727.1_Missense_Mutation_p.D36N|RGS7_ENST00000401882.1_Missense_Mutation_p.D36N|RGS7_ENST00000348120.2_Missense_Mutation_p.D36N|RGS7_ENST00000366563.1_Missense_Mutation_p.D36N|RGS7_ENST00000331110.7_Missense_Mutation_p.D10N|RGS7_ENST00000366564.1_Missense_Mutation_p.D36N|RGS7_ENST00000366562.4_Missense_Mutation_p.D36N|RGS7_ENST00000446183.2_5'UTR	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	36					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTTTTCATCTTGCATCCGT	0.343000													17	26					0	0	0.000229342	0	0
OR10G4	390264	broad.mit.edu	37	11	123886905	123886905	+	Silent	SNP	C	C	T	rs144261644		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:123886905C>T	ENST00000320891.4	+	1	624	c.624C>T	c.(622-624)ggC>ggT	p.G208G		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G208G(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TGGCCTCAGGCTGCTTTGTCC	0.557000													53	22					0	0	0.000781405	0	0
TUBA3D	113457	broad.mit.edu	37	2	132238055	132238055	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:132238055C>T	ENST00000321253.6	+	4	896	c.789C>T	c.(787-789)ccC>ccT	p.P263P		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	263					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TGCCGTACCCCCGCATCCACT	0.587000													52	65					0	0	0.000781405	0	0
MCM3	4172	broad.mit.edu	37	6	52138585	52138585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:52138585G>A	ENST00000596288.1	-	10	1666	c.1639C>T	c.(1639-1641)Ctt>Ttt	p.L547F	MCM3_ENST00000229854.7_Missense_Mutation_p.L502F|MCM3_ENST00000419835.2_Missense_Mutation_p.L456F	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	502					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					TGCATCCGAAGGACATGGTCT	0.502000													23	9					0	0	0.000720815	0	0
TRANK1	9881	broad.mit.edu	37	3	36897228	36897228	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:36897228C>T	ENST00000301807.6	-	12	4100	c.2203G>A	c.(2203-2205)Gaa>Aaa	p.E735K	TRANK1_ENST00000428977.2_Missense_Mutation_p.E735K|TRANK1_ENST00000429976.2_Missense_Mutation_p.E1285K	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	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													87	106					0	0	0.000781405	0	0
GABRA1	2554	broad.mit.edu	37	5	161324263	161324263	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:161324263C>T	ENST00000428797.2	+	11	1561	c.1206C>T	c.(1204-1206)ccC>ccT	p.P402P	GABRA1_ENST00000393943.4_Silent_p.P402P|GABRA1_ENST00000023897.6_Silent_p.P402P|GABRA1_ENST00000444819.1_Silent_p.P402P|GABRA1_ENST00000437025.2_Silent_p.P402P|GABRA1_ENST00000420560.1_Silent_p.P402P	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	402					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	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)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AGGTCAAGCCCGAAACAAAAC	0.478000													44	71					0	0	0.000680045	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37199527	37199527	+	RNA	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:37199527C>T	ENST00000425901.2	+	0	2680					NR_033753.2																						AGTTTTTACACAAGTTGTAAG	0.373000													7	172					0	0	8.12818e-05	0	0
COL4A4	1286	broad.mit.edu	37	2	227875216	227875216	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:227875216C>T	ENST00000396625.3	-	46	4542	c.4333_splice	c.e46-1	p.G1445_splice	COL4A4_ENST00000329662.7_Splice_Site_p.G1442_splice	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1445	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GACCAGGAGGCCCTGGAGGAA	0.542000													9	3					0	0	0.000673444	0	0
FCGBP	8857	broad.mit.edu	37	19	40384163	40384163	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:40384163G>A	ENST00000221347.6	-	21	9454	c.9447C>T	c.(9445-9447)atC>atT	p.I3149I		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3149						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)			CTGGGCAGGTGATCTCTGTGG	0.607000													51	233					0	0	0.000781405	0	0
CLDN25	644672	broad.mit.edu	37	11	113651138	113651138	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:113651138C>T	ENST00000453129.2	+	1	670	c.621C>T	c.(619-621)tcC>tcT	p.S207S		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	207						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						TCCCCCTATCCTGTGCTCCAG	0.532000													10	55					0	0	0.00010058	0	0
NRP2	8828	broad.mit.edu	37	2	206610481	206610481	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:206610481G>A	ENST00000360409.3	+	10	2444	c.1653G>A	c.(1651-1653)ggG>ggA	p.G551G	NRP2_ENST00000412873.2_Silent_p.G551G|NRP2_ENST00000272849.3_Silent_p.G551G|NRP2_ENST00000540841.1_Silent_p.G551G|NRP2_ENST00000540178.1_Silent_p.G551G|NRP2_ENST00000357785.5_Silent_p.G551G|NRP2_ENST00000357118.4_Silent_p.G551G	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	551	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGTTCGAAGGGAACATGCACT	0.602000													13	27					0	0	0.000151284	0	0
EIF4G3	8672	broad.mit.edu	37	1	21212837	21212837	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:21212837G>A	ENST00000602326.1	-	17	2714	c.2131C>T	c.(2131-2133)Caa>Taa	p.Q711*	EIF4G3_ENST00000536266.1_Nonsense_Mutation_p.Q309*|EIF4G3_ENST00000400422.1_Nonsense_Mutation_p.Q705*|EIF4G3_ENST00000374935.3_Nonsense_Mutation_p.Q425*|EIF4G3_ENST00000374937.3_Nonsense_Mutation_p.Q711*|EIF4G3_ENST00000264211.8_Nonsense_Mutation_p.Q705*|EIF4G3_ENST00000537738.1_Nonsense_Mutation_p.Q195*	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	705	eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGCCAGGTTGAGATCTTCGT	0.398000													89	106					0	0	0.000781405	0	0
SPANXN5	494197	broad.mit.edu	37	X	52825638	52825638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chrX:52825638C>T	ENST00000375511.3	-	2	861	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K		NM_001009616.2	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	37								p.E37K(1)		large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					AAACTCGGTTCGAGGACTAAG	0.388000													37	7					0	0	0.000814825	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148904678	148904678	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:148904678C>A	ENST00000261798.5	-	3	719	c.287G>T	c.(286-288)aGc>aTc	p.S96I	CSNK1A1_ENST00000377843.2_Missense_Mutation_p.S96I|CSNK1A1_ENST00000515435.1_Missense_Mutation_p.S7I|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.S7I|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.S96I	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	96	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity	p.S96I(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GTCTTCGAGGCTAGGTCCCAG	0.363000													14	18					2.23348e-06	2.73046e-05	0.000422831	1	0
RTEL1	51750	broad.mit.edu	37	20	62321443	62321443	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr20:62321443C>T	ENST00000318100.4	+	25	2972	c.2145C>T	c.(2143-2145)ttC>ttT	p.F715F	RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.F715F|RTEL1_ENST00000360203.5_Silent_p.F715F|RTEL1_ENST00000370018.3_Silent_p.F715F|RTEL1_ENST00000508582.2_Silent_p.F739F|RTEL1_ENST00000370003.1_5'UTR			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	715					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCCCCAGGTTCGCCTTTGCCG	0.632000													39	43					0	0	0.000319135	0	0
ZNF708	7562	broad.mit.edu	37	19	21476689	21476689	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:21476689T>C	ENST00000356929.3	-	4	1276	c.1079A>G	c.(1078-1080)gAa>gGa	p.E360G		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						GGGTTTCTCTTCAGTATGAAT	0.363000													4	47					0	0	0.000602214	0	0
PADI3	51702	broad.mit.edu	37	1	17586203	17586203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:17586203G>A	ENST00000375460.3	+	2	263	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	75					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CGCGACTTTGGAGATCATCGT	0.612000													24	31					0	0	0.00047179	0	0
ZFPL1	7542	broad.mit.edu	37	11	64854471	64854471	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:64854471C>T	ENST00000294258.3	+	6	705	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	185					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CCAGGCCCCCCGGCCCCCAGC	0.657000													6	5					0	0	8.12818e-05	0	0
GPR148	344561	broad.mit.edu	37	2	131487557	131487557	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:131487557T>A	ENST00000309926.4	+	1	915	c.833T>A	c.(832-834)gTg>gAg	p.V278E		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	278						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					AGCACAGGGGTGGTGTTCTCC	0.577000													59	56					0	0	0.000781405	0	0
ADCK5	203054	broad.mit.edu	37	8	145615897	145615897	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:145615897C>T	ENST00000308860.6	+	4	337	c.293C>T	c.(292-294)tCc>tTc	p.S98F	ADCK5_ENST00000526231.2_3'UTR|ADCK5_ENST00000532190.1_3'UTR	NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	98						integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTGCAGATCTCCCTGGACTAC	0.647000													12	20					0	0	0.000151284	0	0
ACBD4	79777	broad.mit.edu	37	17	43215180	43215180	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:43215180C>A	ENST00000431281.1	+	9	1063	c.594C>A	c.(592-594)agC>agA	p.S198R	ACBD4_ENST00000321854.8_Missense_Mutation_p.Q186K|ACBD4_ENST00000398322.3_Missense_Mutation_p.Q186K|ACBD4_ENST00000591859.1_Missense_Mutation_p.S198R|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000376955.4_Missense_Mutation_p.Q186K|ACBD4_ENST00000586346.1_Missense_Mutation_p.S198R|ACBD4_ENST00000592162.1_Missense_Mutation_p.Q186K	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	182							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						TTCCCTGGAGCAGCTGGAGCC	0.607000													35	49					1.36161e-19	1.6886e-18	0.000814825	1	0
SRRM2	23524	broad.mit.edu	37	16	2813159	2813159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:2813159C>T	ENST00000301740.8	+	11	3179	c.2630C>T	c.(2629-2631)cCt>cTt	p.P877L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	877	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA 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						GAATCATCACCTGACCCTGAG	0.517000													41	36					0	0	0.000374591	0	0
OR4K1	79544	broad.mit.edu	37	14	20404428	20404428	+	Silent	SNP	G	G	A	rs149331677	byFrequency	TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:20404428G>A	ENST00000285600.4	+	1	662	c.603G>A	c.(601-603)acG>acA	p.T201T		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	201					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)		TGACCCTAACGAACAGTGGCC	0.448000													31	88					0	0	0.000227799	0	0
OR10A3	26496	broad.mit.edu	37	11	7961019	7961019	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:7961019A>G	ENST00000360759.3	-	1	122	c.49T>C	c.(49-51)Ttt>Ctt	p.F17L		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGTTAGAAAAGCCCAGGAGG	0.398000													26	10					0	0	0.00106085	0	0
UMODL1	89766	broad.mit.edu	37	21	43524199	43524199	+	Splice_Site	SNP	T	T	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr21:43524199T>A	ENST00000400427.1	+	9	1699		c.e9+2		C21orf128_ENST00000329015.2_Intron|UMODL1_ENST00000400424.1_Splice_Site|UMODL1_ENST00000408989.2_Splice_Site|UMODL1_ENST00000408910.2_Splice_Site	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1							cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GCGTGCAAGGTATGGCCCAGC	0.567000													12	14					0	0	0.000978159	0	0
FAM105A	54491	broad.mit.edu	37	5	14601461	14601461	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:14601461G>A	ENST00000274217.3	+	4	378	c.256_splice	c.e4-1	p.R86_splice		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	86										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TTGGTCCAGGGAACCTCAGTG	0.398000													25	41					0	0	0.000878237	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138423	126138423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:126138423G>A	ENST00000299308.3	+	9	2412	c.2404G>A	c.(2404-2406)Gat>Aat	p.D802N	TMEM132B_ENST00000535886.1_Missense_Mutation_p.D314N	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	802						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)		AGGCAGCAATGATATTGAGGG	0.473000													6	40					0	0	3.59834e-05	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199552	71199552	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:71199552G>A	ENST00000554752.2	-	11	2533	c.2534C>T	c.(2533-2535)tCc>tTc	p.S845F	MAP3K9_ENST00000553414.1_Missense_Mutation_p.S578F|MAP3K9_ENST00000554146.1_Missense_Mutation_p.S573F|MAP3K9_ENST00000555993.2_Missense_Mutation_p.S859F|MAP3K9_ENST00000381250.4_Missense_Mutation_p.S822F			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	845					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GGAGCGTGTGGAGTTGCACTC	0.592000													10	15					0	0	0.000442599	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49143507	49143507	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chrX:49143507C>T	ENST00000055335.6	+	4	2371	c.2355C>T	c.(2353-2355)tcC>tcT	p.S785S	PPP1R3F_ENST00000495799.1_Silent_p.S439S|PPP1R3F_ENST00000376188.1_Silent_p.S439S|PPP1R3F_ENST00000466508.1_Silent_p.S439S|PPP1R3F_ENST00000438316.1_Silent_p.S456S	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	785						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GCGGTGTGTCCCTCCTGGTGC	0.617000													25	10					0	0	0.000339439	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585398	70585398	+	Silent	SNP	A	A	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:70585398A>T	ENST00000260126.3	-	10	2959	c.2253T>A	c.(2251-2253)atT>atA	p.I751I	SLCO5A1_ENST00000530307.1_Silent_p.I696I|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	751						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GAAAAATAAAAATAAACCCAA	0.488000													43	69					0	0	0.000509022	0	0
AP4B1	10717	broad.mit.edu	37	1	114445307	114445307	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:114445307G>A	ENST00000369569.1	-	2	571	c.291C>T	c.(289-291)ccC>ccT	p.P97P	AP4B1_ENST00000256658.4_Silent_p.P97P|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000369566.3_Silent_p.P97P	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	97					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATTGGATTGGGGTCTGAGC	0.502000													21	24					0	0	0.00047179	0	0
MYO18A	399687	broad.mit.edu	37	17	27493685	27493685	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:27493685G>A	ENST00000527372.1	-	2	454	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L	MYO18A_ENST00000533112.1_Silent_p.L92L|MYO18A_ENST00000354329.4_Silent_p.L92L|MYO18A_ENST00000531253.1_Silent_p.L92L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	92					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCCGAGTCCAGGATGACGCTG	0.622000													15	22					0	0	0.000308642	0	0
TRPC5	7224	broad.mit.edu	37	X	111090482	111090482	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chrX:111090482G>A	ENST00000262839.2	-	6	2478	c.1560C>T	c.(1558-1560)ttC>ttT	p.F520F		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	520					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGATAAAGAGGAATTTGAGGA	0.443000													57	23					0	0	0.000781405	0	0
FMN2	56776	broad.mit.edu	37	1	240370636	240370636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:240370636G>A	ENST00000319653.9	+	5	2754	c.2524G>A	c.(2524-2526)Gaa>Aaa	p.E842K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	842	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	p.E985K(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AACCAGCCACGAACACTCTGT	0.557000													32	42					0	0	0.000409698	0	0
SLC4A10	57282	broad.mit.edu	37	2	162761339	162761339	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:162761339C>T	ENST00000375514.5	+	14	1901	c.1614C>T	c.(1612-1614)ctC>ctT	p.L538L	SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000446997.1_Silent_p.L557L|SLC4A10_ENST00000415876.2_Silent_p.L527L|SLC4A10_ENST00000421911.1_Silent_p.L557L|SLC4A10_ENST00000272716.5_Silent_p.L527L	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	557					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						CCTATTCTCTCTTTGGTGGAC	0.388000													47	87					0	0	0.000781405	0	0
METTL21A	151194	broad.mit.edu	37	2	208478098	208478098	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:208478098A>G	ENST00000411432.1	-	4	545	c.329T>C	c.(328-330)tTa>tCa	p.L110S	METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000448007.2_Missense_Mutation_p.L110S|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000442521.1_Missense_Mutation_p.L110S|METTL21A_ENST00000406927.2_Missense_Mutation_p.L110S|METTL21A_ENST00000272839.3_Missense_Mutation_p.L128S|METTL21A_ENST00000426075.1_Missense_Mutation_p.L110S	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	110						integral to membrane	methyltransferase activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						ATGAGGAGGTAAGTTGGCTTG	0.393000													27	55					0	0	0.000720815	0	0
ZFPL1	7542	broad.mit.edu	37	11	64854470	64854470	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:64854470C>T	ENST00000294258.3	+	6	704	c.552C>T	c.(550-552)ccC>ccT	p.P184P		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	184					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						GCCAGGCCCCCCGGCCCCCAG	0.652000													6	5					0	0	8.12818e-05	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685628	108685628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:108685628C>T	ENST00000397688.2	-	3	1475	c.1106G>A	c.(1105-1107)gGc>gAc	p.G369D	CMKLR1_ENST00000552995.1_Missense_Mutation_p.G369D|CMKLR1_ENST00000412676.1_Missense_Mutation_p.G371D|CMKLR1_ENST00000550402.1_Missense_Mutation_p.G371D|CMKLR1_ENST00000312143.7_Missense_Mutation_p.G371D	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	371					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						TCAAAGCATGCCGGTCTCCCT	0.478000													10	56					0	0	0.000978159	0	0
NLRP5	126206	broad.mit.edu	37	19	56530712	56530712	+	Silent	SNP	T	T	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:56530712T>C	ENST00000390649.3	+	5	570	c.570T>C	c.(568-570)atT>atC	p.I190I		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	190						mitochondrion|nucleolus	ATP binding	p.I190M(2)		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)		TTGCAGAAATTTCACAAGCTA	0.398000													18	25					0	0	0.000375601	0	0
TMC8	147138	broad.mit.edu	37	17	76127788	76127788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:76127788C>T	ENST00000318430.5	+	2	493	c.119C>T	c.(118-120)cCc>cTc	p.P40L	TMC8_ENST00000589691.1_Intron|TMC6_ENST00000322914.3_Intron	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	40						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CGCGGGCTGCCCTATGCCATG	0.731000													3	10					0	0	0.00024832	0	0
CCDC173	129881	broad.mit.edu	37	2	170537668	170537668	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:170537668G>A	ENST00000447353.1	-	2	248	c.143C>T	c.(142-144)aCc>aTc	p.T48I		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173																		TGGAATTATGGTGACCTGCTG	0.388000													42	36					0	0	0.000319135	0	0
POTEA	340441	broad.mit.edu	37	8	43159895	43159895	+	RNA	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:43159895C>T	ENST00000522175.2	+	0	751							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AACAACTCTTCTGGAAATAGC	0.348000													20	46					0	0	0.00106085	0	0
KCNMA1	3778	broad.mit.edu	37	10	78669808	78669808	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:78669808G>A	ENST00000286627.5	-	24	3841	c.2889C>T	c.(2887-2889)gaC>gaT	p.D963D	RP11-443A13.5_ENST00000426234.1_RNA|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000372440.1_Silent_p.D963D|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Silent_p.D1024D|KCNMA1_ENST00000372443.1_Silent_p.D990D|KCNMA1_ENST00000406533.3_Silent_p.D1025D|KCNMA1_ENST00000404771.3_Silent_p.D1021D|KCNMA1_ENST00000286628.8_Silent_p.D1021D|KCNMA1_ENST00000404857.1_Silent_p.D1004D	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1021					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CTGTATCAGGGTCATCATCAT	0.458000													14	28					0	0	0.000308642	0	0
YLPM1	56252	broad.mit.edu	37	14	75266107	75266107	+	Silent	SNP	T	T	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:75266107T>G	ENST00000325680.7	+	5	4231	c.4107T>G	c.(4105-4107)ggT>ggG	p.G1369G	YLPM1_ENST00000238571.3_Silent_p.G1174G|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GTGATAGGGGTGAGTTGAGGA	0.473000													75	132					0	0	0.000781405	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129370	248129370	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:248129370G>A	ENST00000366480.3	+	1	836	c.737G>A	c.(736-738)gGa>gAa	p.G246E	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATGAGCTCAGGAAAAGGACAG	0.478000													22	33					0	0	0.000295444	0	0
EPHB6	2051	broad.mit.edu	37	7	142566883	142566883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:142566883C>T	ENST00000392957.2	+	16	3227	c.2440C>T	c.(2440-2442)Ctt>Ttt	p.L814F	EPHB6_ENST00000411471.2_Missense_Mutation_p.L537F|EPHB6_ENST00000442129.1_Missense_Mutation_p.L814F	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	814	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGTGGCCCGTCTTGGCCACAG	0.627000													11	36					0	0	0.000673444	0	0
NIPBL	25836	broad.mit.edu	37	5	36976495	36976495	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:36976495C>T	ENST00000282516.8	+	9	1985	c.1486C>T	c.(1486-1488)Caa>Taa	p.Q496*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.Q496*|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	496					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAAAGAAGTTCAAGATAAAGG	0.338000													18	16					0	0	0.000958276	0	0
TOX	9760	broad.mit.edu	37	8	59750747	59750747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:59750747G>A	ENST00000361421.1	-	5	1037	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	273						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TGAGTATCACGAAAGAATAAC	0.468000													63	82					0	0	0.000781405	0	0
ATP2A2	488	broad.mit.edu	37	12	110784071	110784071	+	Silent	SNP	C	C	T	rs147558863		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:110784071C>T	ENST00000395494.2	+	19	3407	c.2844C>T	c.(2842-2844)ccC>ccT	p.P948P	ATP2A2_ENST00000539276.2_Silent_p.P975P|ATP2A2_ENST00000308664.6_Silent_p.P975P			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	975					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TCTCCTTGCCCGTGATTCTCA	0.557000													23	23					0	0	0.00047179	0	0
CLCN6	1185	broad.mit.edu	37	1	11888542	11888542	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:11888542C>T	ENST00000346436.6	+	12	1034	c.982C>T	c.(982-984)Ctc>Ttc	p.L328F	CLCN6_ENST00000376496.3_Missense_Mutation_p.L328F|CLCN6_ENST00000312413.6_Intron|CLCN6_ENST00000376492.3_Intron|CLCN6_ENST00000376487.3_Missense_Mutation_p.L306F	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	328					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|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)		AAAATGTCATCTCTGGACAGC	0.493000													107	121					0	0	0.000781405	0	0
SNCAIP	9627	broad.mit.edu	37	5	121787062	121787062	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:121787062G>A	ENST00000261367.7	+	12	4089	c.2661G>A	c.(2659-2661)aaG>aaA	p.K887K	SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000542191.1_Silent_p.K398K|SNCAIP_ENST00000379536.2_Silent_p.K780K|SNCAIP_ENST00000414317.2_Silent_p.K442K|SNCAIP_ENST00000379533.2_Silent_p.K887K|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000261368.8_Silent_p.K840K|SNCAIP_ENST00000379538.3_Silent_p.K474K|CTC-210G5.1_ENST00000509993.1_RNA|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000503529.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	840					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)		ACAAAGATAAGGGCAGGACTC	0.483000													25	43					0	0	0.00106085	0	0
DSG4	147409	broad.mit.edu	37	18	28972133	28972133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr18:28972133G>A	ENST00000359747.4	+	8	864	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.E279K|RP11-534N16.1_ENST00000581452.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	279	Cadherin 3.		Missing (in LAH1).		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)			AGCCAGTATTGAAGAGAATTG	0.308000													25	53					0	0	0.00106085	0	0
DSC2	1824	broad.mit.edu	37	18	28660276	28660276	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr18:28660276C>A	ENST00000280904.6	-	10	1749	c.1306G>T	c.(1306-1308)Ggt>Tgt	p.G436C	DSC2_ENST00000251081.6_Missense_Mutation_p.G436C	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	436	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTAACTACACCAATTTGCAAG	0.383000													30	46					8.58068e-18	1.06158e-16	0.000184323	1	0
FNTA	2339	broad.mit.edu	37	8	42932451	42932451	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:42932451C>T	ENST00000534420.1	+	6	597	c.597C>T	c.(595-597)ttC>ttT	p.199_199insF	FNTA_ENST00000342116.4_Silent_p.F175F|FNTA_ENST00000529687.1_Silent_p.F91F|FNTA_ENST00000302279.3_Silent_p.F242F																							AAAGATACTTCGTTATTTCTA	0.393000													30	43					0	0	0.000227799	0	0
NPAS4	266743	broad.mit.edu	37	11	66192366	66192366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:66192366G>A	ENST00000311034.2	+	7	2181	c.2005G>A	c.(2005-2007)Gac>Aac	p.D669N		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	669					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGAGCCCCTGGACTCCAACCT	0.607000													19	86					0	0	0.000132079	0	0
PCNXL2	80003	broad.mit.edu	37	1	233344336	233344336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:233344336G>A	ENST00000258229.8	-	13	3025	c.2791C>T	c.(2791-2793)Ccc>Tcc	p.P931S	PCNXL2_ENST00000488780.2_Missense_Mutation_p.P64S|PCNXL2_ENST00000430153.1_Missense_Mutation_p.P230S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	931						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)				ACGTAACTGGGAGGGTGCCTG	0.453000													30	37					0	0	0.00106085	0	0
TMEM53	79639	broad.mit.edu	37	1	45120414	45120414	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:45120414C>T	ENST00000372237.3	-	3	814	c.651G>A	c.(649-651)tcG>tcA	p.S217S	TMEM53_ENST00000372235.3_Silent_p.S187S|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372243.3_Intron	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	217						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					CGTCAGCCCTCGAGTAGAGGT	0.612000													43	56					0	0	0.000437636	0	0
OR2C1	4993	broad.mit.edu	37	16	3406858	3406858	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:3406858G>A	ENST00000304936.2	+	1	970	c.918G>A	c.(916-918)ggG>ggA	p.G306G		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGTTGCTGGGGAAAGGAAGAG	0.493000													4	7					0	0	0.00024832	0	0
KRI1	65095	broad.mit.edu	37	19	10668488	10668488	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:10668488G>A	ENST00000312962.6	-	15	1480	c.1461C>T	c.(1459-1461)ccC>ccT	p.P487P	KRI1_ENST00000361821.5_Silent_p.P483P	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	487										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCGCGGCGAAGGGCGACTTGC	0.692000													13	23					0	0	0.00010058	0	0
DICER1	23405	broad.mit.edu	37	14	95571490	95571490	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:95571490A>C	ENST00000526495.1	-	22	3478	c.3187T>G	c.(3187-3189)Tgc>Ggc	p.C1063G	DICER1_ENST00000393063.1_Missense_Mutation_p.C1063G|DICER1_ENST00000527414.1_Missense_Mutation_p.C1063G|DICER1_ENST00000541352.1_Missense_Mutation_p.C1063G|DICER1_ENST00000556045.1_5'UTR|DICER1_ENST00000343455.3_Missense_Mutation_p.C1063G			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1063					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GTCAAAAGGCAGTGAAGGCGA	0.502000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				49	88					0	0	0.000781405	0	0
SLC25A20	788	broad.mit.edu	37	3	48900027	48900027	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:48900027C>T	ENST00000319017.4	-	5	681	c.483G>A	c.(481-483)caG>caA	p.Q161Q	SLC25A20_ENST00000430379.1_Silent_p.Q88Q|SLC25A20_ENST00000544097.1_Silent_p.Q111Q	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	161					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	TCCCAAACTCCTGGTACAGCT	0.512000													23	44					0	0	0.000375601	0	0
NPNT	255743	broad.mit.edu	37	4	106863676	106863676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:106863676C>T	ENST00000379987.2	+	8	1192	c.976C>T	c.(976-978)Cct>Tct	p.P326S	NPNT_ENST00000514622.1_Missense_Mutation_p.P326S|NPNT_ENST00000506666.1_Missense_Mutation_p.P356S|NPNT_ENST00000453617.2_Missense_Mutation_p.P343S|NPNT_ENST00000427316.2_Missense_Mutation_p.P356S|NPNT_ENST00000305572.8_Missense_Mutation_p.P326S	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	326	Pro-rich.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AACACCAATTCCTACTCCACC	0.512000													21	27					0	0	0.000375601	0	0
DNAH17	8632	broad.mit.edu	37	17	76492090	76492090	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:76492090G>A	ENST00000389840.5	-	38	5852	c.5728C>T	c.(5728-5730)Cgg>Tgg	p.R1910W	RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000585328.1_Missense_Mutation_p.R1919W					dynein, axonemal, heavy chain 17									p.R1919W(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCTTGGCCCGAATTGCATCC	0.512000													31	36					0	0	0.000409698	0	0
TCEB3	6924	broad.mit.edu	37	1	24078417	24078417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:24078417C>T	ENST00000418390.2	+	4	1671	c.1400C>T	c.(1399-1401)tCt>tTt	p.S467F		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	467					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AAAAATGACTCTAAAAGCACT	0.428000											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	77					0	0	0.000781405	0	0
RBM33	155435	broad.mit.edu	37	7	155530346	155530346	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:155530346C>T	ENST00000401878.3	+	10	1581	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	461	Pro-rich.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GAGACCCTTTCTTCTTAGGAG	0.512000													8	9					0	0	0.000157383	0	0
CAPSL	133690	broad.mit.edu	37	5	35910006	35910006	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:35910006G>A	ENST00000397367.2	-	4	613	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L	CAPSL_ENST00000397366.1_Silent_p.L163L|CAPSL_ENST00000514524.1_Silent_p.L163L	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	163	EF-hand 4.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			AAGTTATCCAGAAATTTCCTA	0.358000													62	89					0	0	0.000781405	0	0
CNTN4	152330	broad.mit.edu	37	3	3078983	3078983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:3078983C>T	ENST00000397461.1	+	17	2447	c.2063C>T	c.(2062-2064)cCc>cTc	p.P688L	CNTN4_ENST00000358480.3_Missense_Mutation_p.P469L|CNTN4_ENST00000418658.1_Missense_Mutation_p.P688L|CNTN4_ENST00000427331.1_Missense_Mutation_p.P688L|CNTN4_ENST00000448906.2_Missense_Mutation_p.P360L|CNTN4_ENST00000397459.2_Missense_Mutation_p.P360L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	688	Fibronectin type-III 1.				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)		CCCAGCCGCCCCTCAGAGAAA	0.512000													51	140					0	0	0.000781405	0	0
M1AP	130951	broad.mit.edu	37	2	74834279	74834279	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:74834279G>A	ENST00000290536.5	-	4	614	c.498C>T	c.(496-498)gaC>gaT	p.D166D	M1AP_ENST00000409585.1_Silent_p.D166D|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Silent_p.D166D	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		CTCTGGCTAGGTCTGTATCTT	0.458000													48	84					0	0	0.000781405	0	0
MYO7A	4647	broad.mit.edu	37	11	76909607	76909607	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:76909607G>A	ENST00000409709.3	+	34	4781	c.4509G>A	c.(4507-4509)gaG>gaA	p.E1503E	MYO7A_ENST00000409619.2_Silent_p.E1492E|MYO7A_ENST00000458637.2_Silent_p.E1503E	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1503	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTGTGGATGAGCAGGAGCAGG	0.607000													4	20					0	0	0.000602214	0	0
CDH23	64072	broad.mit.edu	37	10	73206141	73206141	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:73206141A>G	ENST00000224721.6	+	2	139	c.134A>G	c.(133-135)gAc>gGc	p.D45G	CDH23_ENST00000299366.7_Missense_Mutation_p.D90G|CDH23_ENST00000461841.3_Missense_Mutation_p.D90G|CDH23_ENST00000398842.3_Missense_Mutation_p.D45G|CDH23_ENST00000398809.4_Missense_Mutation_p.D45G	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	45	Cadherin 1.				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						ATCAGCGAGGACACGCCTGTG	0.577000													13	42					0	0	0.000308642	0	0
TMEM63C	57156	broad.mit.edu	37	14	77703063	77703063	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:77703063G>A	ENST00000298351.4	+	9	783	c.639G>A	c.(637-639)agG>agA	p.R213R		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	213						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TTGCACCCAGGAATAGCCAAA	0.552000													38	41					0	0	0.000319135	0	0
AP1B1	162	broad.mit.edu	37	22	29736755	29736755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr22:29736755C>T	ENST00000357586.2	-	14	2074	c.1888G>A	c.(1888-1890)Ggt>Agt	p.G630S	AP1B1_ENST00000432560.2_Missense_Mutation_p.G630S|AP1B1_ENST00000415447.1_Missense_Mutation_p.G630S|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000402502.1_Missense_Mutation_p.G630S|AP1B1_ENST00000317368.7_Missense_Mutation_p.G630S|AP1B1_ENST00000356015.2_Missense_Mutation_p.G630S|AP1B1_ENST00000405198.1_Missense_Mutation_p.G630S	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	630	Pro-rich (stalk region).				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGGAGGTCACCCAGCAGGTCG	0.687000													8	10					0	0	0.000157383	0	0
KRT37	8688	broad.mit.edu	37	17	39578665	39578665	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:39578665G>A	ENST00000225550.3	-	4	753	c.754C>T	c.(754-756)Cag>Tag	p.Q252*	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	252	Linker 12.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TCCCCCAGCTGACTCCTCAGA	0.562000													74	77					0	0	0.000781405	0	0
AHNAK	79026	broad.mit.edu	37	11	62292274	62292274	+	Silent	SNP	A	A	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:62292274A>G	ENST00000378024.4	-	5	9889	c.9615T>C	c.(9613-9615)ccT>ccC	p.P3205P	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3205					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTTGAATTTAGGGCCCTTCA	0.458000													80	50					0	0	0.000781405	0	0
VAV1	7409	broad.mit.edu	37	19	6832125	6832125	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:6832125C>T	ENST00000304076.2	+	15	1516	c.1422C>T	c.(1420-1422)atC>atT	p.I474I	VAV1_ENST00000602142.1_Silent_p.I474I|VAV1_ENST00000596764.1_Silent_p.I442I|VAV1_ENST00000599806.1_Silent_p.I419I|VAV1_ENST00000539284.1_Silent_p.I377I	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	474	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TCCTCCTGATCGAGGACCAAG	0.577000													19	26					0	0	0.000375601	0	0
LILRA3	11026	broad.mit.edu	37	19	54803962	54803962	+	Silent	SNP	G	G	A	rs147630499		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:54803962G>A	ENST00000391745.1	-	6	418	c.102C>T	c.(100-102)ccC>ccT	p.P34P	LILRA3_ENST00000391744.3_Silent_p.P17P|LILRA3_ENST00000251390.3_Silent_p.P17P					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CGTGGGTCCTGGGGTCCAGGC	0.642000													22	30					0	0	0.000878237	0	0
HEXA	3073	broad.mit.edu	37	15	72638913	72638913	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:72638913G>A	ENST00000268097.5	-	11	1788	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S	RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.P429S|HEXA_ENST00000429918.2_Missense_Mutation_p.P256S|HEXA_ENST00000566304.1_Missense_Mutation_p.P440S|HEXA_ENST00000457859.2_Intron|RP11-106M3.3_ENST00000570175.1_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	429					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						TTCCAGTCAGGGCCATAGGAT	0.537000													88	90					0	0	0.000781405	0	0
PHF20	51230	broad.mit.edu	37	20	34451305	34451305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr20:34451305C>T	ENST00000374012.3	+	6	920	c.791C>T	c.(790-792)cCt>cTt	p.P264L	PHF20_ENST00000439301.1_Silent_p.P242P|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GGCAGACCCCCTTCCATAGCT	0.448000													44	64					0	0	0.000781405	0	0
SPIRE1	56907	broad.mit.edu	37	18	12464892	12464892	+	Silent	SNP	G	G	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr18:12464892G>C	ENST00000409402.4	-	11	1737	c.1470C>G	c.(1468-1470)gtC>gtG	p.V490V	SPIRE1_ENST00000309836.5_Silent_p.V279V|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000383356.2_Silent_p.V317V|SPIRE1_ENST00000453447.2_Silent_p.V356V|SPIRE1_ENST00000410092.3_Silent_p.V476V	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	490						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CGGCCTCCAGGACTGGCTCTT	0.512000													18	29					0	0	0.000566183	0	0
WBP11	51729	broad.mit.edu	37	12	14940099	14940099	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:14940099G>A	ENST00000261167.2	-	12	2059	c.1826C>T	c.(1825-1827)gCc>gTc	p.A609V	WBP11_ENST00000537574.1_Missense_Mutation_p.A575V	NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	609					mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						TGCTGCTTTGGCAAGAGGCAC	0.488000													11	57					0	0	0.00010058	0	0
ATP10A	57194	broad.mit.edu	37	15	25959322	25959322	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:25959322G>A	ENST00000356865.6	-	10	1954	c.1843C>T	c.(1843-1845)Ccc>Tcc	p.P615S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	615					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGGCAGCTGGGTGTGAACCTC	0.607000													24	46					0	0	0.000586117	0	0
RANBP10	57610	broad.mit.edu	37	16	67840347	67840347	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:67840347C>T	ENST00000317506.3	-	1	208	c.93G>A	c.(91-93)ggG>ggA	p.G31G	RANBP10_ENST00000425512.2_5'UTR|RANBP10_ENST00000602887.1_5'UTR|RANBP10_ENST00000448631.2_Silent_p.G31G|RANBP10_ENST00000411657.2_5'UTR|RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000602677.1_Silent_p.G31G	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	31										endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GCTCCTGCTCCCCAGGGGACG	0.711000													3	8					0	0	0.00024832	0	0
CNTN5	53942	broad.mit.edu	37	11	100141825	100141825	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:100141825C>T	ENST00000524871.1	+	18	2456	c.2164_splice	c.e18-1	p.V722_splice	CNTN5_ENST00000418526.2_Splice_Site_p.V648_splice|CNTN5_ENST00000279463.3_Splice_Site_p.V722_splice|CNTN5_ENST00000527185.1_Splice_Site_p.V722_splice|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Splice_Site_p.V722_splice	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	722	Fibronectin type-III 1.				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)		TTTCTATAGTCCCAGAAATCA	0.418000													14	16					0	0	0.000422831	0	0
FAT4	79633	broad.mit.edu	37	4	126408660	126408660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:126408660G>A	ENST00000394329.3	+	16	12990	c.12977G>A	c.(12976-12978)aGa>aAa	p.R4326K	FAT4_ENST00000335110.5_Missense_Mutation_p.R2567K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4326	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATATATAACAGAGATATTATC	0.418000													33	51					0	0	0.00111076	0	0
CNTN4	152330	broad.mit.edu	37	3	3078982	3078982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:3078982C>T	ENST00000397461.1	+	17	2446	c.2062C>T	c.(2062-2064)Ccc>Tcc	p.P688S	CNTN4_ENST00000358480.3_Missense_Mutation_p.P469S|CNTN4_ENST00000418658.1_Missense_Mutation_p.P688S|CNTN4_ENST00000427331.1_Missense_Mutation_p.P688S|CNTN4_ENST00000448906.2_Missense_Mutation_p.P360S|CNTN4_ENST00000397459.2_Missense_Mutation_p.P360S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	688	Fibronectin type-III 1.				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)		GCCCAGCCGCCCCTCAGAGAA	0.517000													52	143					0	0	0.000781405	0	0
ANO4	121601	broad.mit.edu	37	12	101510498	101510498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:101510498G>A	ENST00000392979.3	+	24	2748	c.2387G>A	c.(2386-2388)cGa>cAa	p.R796Q	ANO4_ENST00000550015.1_Missense_Mutation_p.R351Q|ANO4_ENST00000392977.3_Missense_Mutation_p.R831Q|ANO4_ENST00000299222.9_Missense_Mutation_p.R351Q	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	831						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						TCTGTATTTCGAATTTCTGAC	0.483000										HNSCC(74;0.22)			47	45					0	0	0.000781405	0	0
TRIM56	81844	broad.mit.edu	37	7	100732120	100732120	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:100732120G>A	ENST00000306085.6	+	3	1824	c.1527G>A	c.(1525-1527)cgG>cgA	p.R509R		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	509					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GGTCCCCCCGGATCACCGGGC	0.647000													30	56					0	0	0.000279167	0	0
LTBP2	4053	broad.mit.edu	37	14	74995312	74995312	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:74995312C>T	ENST00000261978.4	-	12	2628	c.2242G>A	c.(2242-2244)Gaa>Aaa	p.E748K	LTBP2_ENST00000556690.1_Missense_Mutation_p.E748K	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	748					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTTGCCAGTTCCTCCTCCTCG	0.672000													29	40					0	0	0.000227799	0	0
SPAG17	200162	broad.mit.edu	37	1	118598528	118598528	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:118598528C>T	ENST00000336338.5	-	19	2615	c.2550G>A	c.(2548-2550)ttG>ttA	p.L850L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	850						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CAACAAGTTCCAAATAATTCC	0.318000													23	44					0	0	0.000878237	0	0
TNRC6B	23112	broad.mit.edu	37	22	40681769	40681769	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr22:40681769C>T	ENST00000454349.2	+	12	3914	c.3703C>T	c.(3703-3705)Ccc>Tcc	p.P1235S	TNRC6B_ENST00000301923.9_Missense_Mutation_p.P431S|TNRC6B_ENST00000402203.1_Missense_Mutation_p.P431S|TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000335727.8_Missense_Mutation_p.P1125S	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1235					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GTTTATTTCCCCCCAGGTAAG	0.448000													52	149					0	0	0.000781405	0	0
ASAP3	55616	broad.mit.edu	37	1	23758191	23758191	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:23758191G>A	ENST00000336689.3	-	23	2588	c.2544C>T	c.(2542-2544)ttC>ttT	p.F848F	ASAP3_ENST00000437606.2_Silent_p.F839F|ASAP3_ENST00000495646.1_Silent_p.F352F|ASAP3_ENST00000484906.1_Intron	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	848					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TCACCAACCTGAATCTGACGG	0.577000													42	49					0	0	0.000781405	0	0
DOCK9	23348	broad.mit.edu	37	13	99515290	99515290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr13:99515290G>A	ENST00000376460.1	-	32	3642	c.3562C>T	c.(3562-3564)Cct>Tct	p.P1188S	DOCK9_ENST00000339416.2_Missense_Mutation_p.P1189S|DOCK9_ENST00000461998.1_5'UTR|DOCK9_ENST00000448493.2_Missense_Mutation_p.P1200S|DOCK9_ENST00000442173.1_Missense_Mutation_p.P1188S	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1189					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCGTTCACAGGGAAGGGTGAC	0.542000													6	0					0	0	0.000274275	0	0
ICA1	3382	broad.mit.edu	37	7	8167536	8167536	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:8167536G>T	ENST00000402384.3	-	13	1563	c.1297C>A	c.(1297-1299)Caa>Aaa	p.Q433K	ICA1_ENST00000401396.1_Missense_Mutation_p.Q421K|ICA1_ENST00000406470.2_Missense_Mutation_p.Q433K|ICA1_ENST00000265577.7_Missense_Mutation_p.Q432K|ICA1_ENST00000422063.2_Missense_Mutation_p.Q462K|ICA1_ENST00000396675.3_Missense_Mutation_p.Q433K			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	433					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		p.Q433K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TTCATATTTTGGTCTAAAAGC	0.488000													7	377					0.000442599	0.00536002	0.000442599	1	0
SNRPA1	6627	broad.mit.edu	37	15	101821958	101821958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:101821958C>T	ENST00000254193.6	-	9	811	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K		NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	247						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGTCTTCTTCCATCTCTTCT	0.423000													33	51					0	0	0.000270559	0	0
MGAM	8972	broad.mit.edu	37	7	141752214	141752214	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:141752214G>A	ENST00000475668.2	+	25	2980	c.2926G>A	c.(2926-2928)Gaa>Aaa	p.E976K	MGAM_ENST00000549489.2_Missense_Mutation_p.E976K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	976	P-type 2.				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)	TGCTTCTGCCGAAAACTGCAC	0.453000													7	20					0	0	0.000157383	0	0
ARFGAP1	55738	broad.mit.edu	37	20	61910291	61910291	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr20:61910291C>T	ENST00000370275.4	+	7	663	c.571C>T	c.(571-573)Ccg>Tcg	p.P191S	ARFGAP1_ENST00000370283.4_Missense_Mutation_p.P191S|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.P78S|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.P191S|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.P117S|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.P138S			Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	191					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GAACACGCCACCGCCTCAGAA	0.597000													15	25					0	0	0.000566183	0	0
ITGAV	3685	broad.mit.edu	37	2	187519428	187519428	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:187519428G>A	ENST00000261023.3	+	16	1831	c.1557G>A	c.(1555-1557)agG>agA	p.R519R	ITGAV_ENST00000433736.2_Silent_p.R473R|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Silent_p.R483R	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	519					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TACTTCCCAGGAAACTTAGTA	0.269000													19	32					0	0	0.000295444	0	0
SH2D7	646892	broad.mit.edu	37	15	78390386	78390386	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:78390386G>A	ENST00000328828.5	+	3	382	c.382G>A	c.(382-384)Gag>Aag	p.E128K	SH2D7_ENST00000409568.2_5'UTR	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	128	SH2.									endometrium(2)|kidney(2)|lung(3)	7						CCATTACCAGGAGGCACAGCT	0.612000													6	17					0	0	0.000157383	0	0
SPAG17	200162	broad.mit.edu	37	1	118598527	118598527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:118598527C>T	ENST00000336338.5	-	19	2616	c.2551G>A	c.(2551-2553)Gaa>Aaa	p.E851K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	851						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCAACAAGTTCCAAATAATTC	0.318000													23	43					0	0	0.000878237	0	0
GALNT14	79623	broad.mit.edu	37	2	31154987	31154987	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:31154987G>A	ENST00000349752.5	-	10	1644	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000420311.2_Silent_p.F300F|GALNT14_ENST00000324589.5_Silent_p.F340F|GALNT14_ENST00000356174.3_Silent_p.F302F|GALNT14_ENST00000406653.1_Silent_p.F315F	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	335	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GCTTCTTCCGGAAGACGTGCC	0.597000													26	48					0	0	0.000586117	0	0
TMEM63C	57156	broad.mit.edu	37	14	77703062	77703062	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:77703062G>A	ENST00000298351.4	+	9	782	c.638G>A	c.(637-639)aGg>aAg	p.R213K		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	213						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TTTGCACCCAGGAATAGCCAA	0.552000													39	42					0	0	0.000374591	0	0
RUNDC3A	10900	broad.mit.edu	37	17	42393802	42393802	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:42393802G>A	ENST00000426726.3	+	9	1277	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	RUNDC3A_ENST00000590941.1_Missense_Mutation_p.E330K|RUNDC3A_ENST00000225441.7_Missense_Mutation_p.E335K	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	335					small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GGGTTCCAAGGAGCTCACTAC	0.627000													21	26					0	0	0.000229342	0	0
SLIT2	9353	broad.mit.edu	37	4	20525762	20525762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:20525762G>A	ENST00000504154.1	+	14	1652	c.1400G>A	c.(1399-1401)aGa>aAa	p.R467K	SLIT2_ENST00000273739.5_Missense_Mutation_p.R471K|SLIT2_ENST00000503837.1_Missense_Mutation_p.R471K|SLIT2_ENST00000503823.1_Missense_Mutation_p.R467K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	467	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCAAACAAAAGAATTGGACAG	0.478000													55	103					0	0	0.000781405	0	0
COL11A2	1302	broad.mit.edu	37	6	33133741	33133741	+	Silent	SNP	T	T	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:33133741T>C	ENST00000341947.2	-	62	4676	c.4449A>G	c.(4447-4449)ggA>ggG	p.G1483G	COL11A2_ENST00000361917.1_Silent_p.G1376G|COL11A2_ENST00000374714.1_Silent_p.G1457G|COL11A2_ENST00000357486.1_Silent_p.G1462G|COL11A2_ENST00000374708.4_Silent_p.G1397G|COL11A2_ENST00000374712.1_Silent_p.G1402G|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Silent_p.G1423G|COL11A2_ENST00000374713.1_Silent_p.G1436G	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1483	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CACCCTTCTCTCCCTTGGGTC	0.597000													28	13					0	0	0.000279167	0	0
CSMD2	114784	broad.mit.edu	37	1	34068144	34068144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:34068144G>A	ENST00000373381.4	-	43	6711	c.6535C>T	c.(6535-6537)Cct>Tct	p.P2179S	CSMD2_ENST00000373377.1_Missense_Mutation_p.P278S|CSMD2_ENST00000373380.1_Missense_Mutation_p.P1052S|CSMD2_ENST00000373388.2_Missense_Mutation_p.P278S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2181	Sushi 12.					integral to membrane|plasma membrane	protein binding	p.P2181S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCGCCACAAGGGACTGCCAGG	0.572000													3	3					0	0	0.000157383	0	0
C9orf24	84688	broad.mit.edu	37	9	34381019	34381019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr9:34381019G>A	ENST00000297623.2	-	5	781	c.583C>T	c.(583-585)Cat>Tat	p.H195Y	C9orf24_ENST00000379127.1_Missense_Mutation_p.H60Y|C9orf24_ENST00000379133.3_Missense_Mutation_p.H60Y|C9orf24_ENST00000379124.1_Missense_Mutation_p.H60Y|C9orf24_ENST00000379126.3_Intron	NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24	195										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		TCGTAACCATGGAAGGGCAGG	0.687000													15	5					0	0	0.000308642	0	0
RIMBP2	23504	broad.mit.edu	37	12	130919365	130919365	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:130919365C>T	ENST00000261655.4	-	11	2279	c.2116G>A	c.(2116-2118)Gag>Aag	p.E706K	RIMBP2_ENST00000536002.1_Missense_Mutation_p.E614K|RIMBP2_ENST00000535703.1_Missense_Mutation_p.E614K	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	706						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCGTCCTCCTCGTCTGAGGCG	0.597000													27	33					0	0	0.000720815	0	0
RUNX1T1	862	broad.mit.edu	37	8	92998456	92998456	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:92998456C>T	ENST00000523629.1	-	9	1629	c.1175G>A	c.(1174-1176)tGg>tAg	p.W392*	RUNX1T1_ENST00000520724.1_Nonsense_Mutation_p.W355*|RUNX1T1_ENST00000396218.1_Nonsense_Mutation_p.W365*|RUNX1T1_ENST00000518844.1_Nonsense_Mutation_p.W365*|RUNX1T1_ENST00000436581.2_Nonsense_Mutation_p.W403*|RUNX1T1_ENST00000360348.2_Nonsense_Mutation_p.W355*|RUNX1T1_ENST00000265814.3_Nonsense_Mutation_p.W392*|RUNX1T1_ENST00000422361.2_Nonsense_Mutation_p.W355*	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	392					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CCGCCGGATCCAGTAATTCAA	0.512000													65	65					0	0	0.000781405	0	0
CLDN25	644672	broad.mit.edu	37	11	113651137	113651137	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:113651137C>T	ENST00000453129.2	+	1	669	c.620C>T	c.(619-621)tCc>tTc	p.S207F		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	207						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						GTCCCCCTATCCTGTGCTCCA	0.532000													10	56					0	0	0.00010058	0	0
QRICH2	84074	broad.mit.edu	37	17	74278089	74278089	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:74278089G>A	ENST00000262765.5	-	8	3800	c.3621C>T	c.(3619-3621)atC>atT	p.I1207I		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1207							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCTCAGGGTCGATCTGGCCAG	0.612000													8	16					0	0	0.000157383	0	0
SIX6	4990	broad.mit.edu	37	14	60976434	60976434	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:60976434C>T	ENST00000327720.5	+	1	766	c.318C>T	c.(316-318)ccC>ccT	p.P106P		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	106					organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GTGGAAGACCCCTGGGACCTG	0.587000													15	15					0	0	0.000219431	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													7	88					0	0	0.000157383	0	0
ETF1	2107	broad.mit.edu	37	5	137853289	137853289	+	Silent	SNP	A	A	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:137853289A>G	ENST00000499810.2	-	4	712	c.264T>C	c.(262-264)aaT>aaC	p.N88N	ETF1_ENST00000503014.1_Silent_p.N107N|ETF1_ENST00000514005.1_5'UTR|ETF1_ENST00000360541.5_Silent_p.N121N			P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	121					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ACAATGACGTATTAATTGGTT	0.378000													41	59					0	0	0.000319135	0	0
M1AP	130951	broad.mit.edu	37	2	74834278	74834278	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:74834278G>C	ENST00000290536.5	-	4	615	c.499C>G	c.(499-501)Cta>Gta	p.L167V	M1AP_ENST00000409585.1_Missense_Mutation_p.L167V|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.L167V	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		ACTCTGGCTAGGTCTGTATCT	0.453000													49	81					0	0	0.000781405	0	0
ZRSR1	7310	broad.mit.edu	37	5	112228602	112228602	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:112228602G>C	ENST00000391338.1	+	1	1290	c.1266G>C	c.(1264-1266)agG>agC	p.R422S	REEP5_ENST00000545426.1_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000379638.4_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000513339.1_Intron	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1											breast(1)|skin(1)|stomach(2)	4						GTCGGGAGAGGCACAATTCAC	0.552000													3	8					0	0	6.4e-05	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48201918	48201918	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:48201918G>A	ENST00000396720.3	+	12	3470	c.3276G>A	c.(3274-3276)caG>caA	p.Q1092Q	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1092							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		ACAAACACCAGGGCTCCGTCC	0.657000											OREG0025594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	38					0	0	0.000184323	0	0
DNAH9	1770	broad.mit.edu	37	17	11511573	11511573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:11511573G>A	ENST00000262442.3	+	2	613	c.545G>A	c.(544-546)gGa>gAa	p.G182E	DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.G182E|DNAH9_ENST00000579828.1_Missense_Mutation_p.G182E	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	182	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAGTGAAGGGAAAAACTTTG	0.507000													72	97					0	0	0.000781405	0	0
XKR3	150165	broad.mit.edu	37	22	17280681	17280681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr22:17280681C>T	ENST00000331428.5	-	3	671	c.569G>A	c.(568-570)cGa>cAa	p.R190Q		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	190						integral to membrane|plasma membrane		p.R190L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGGCCATTCTCGTATAGTGAG	0.358000													62	90					0	0	0.000781405	0	0
POLR3E	55718	broad.mit.edu	37	16	22314310	22314310	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:22314310C>T	ENST00000299853.5	+	2	188	c.21C>T	c.(19-21)gaC>gaT	p.D7D	POLR3E_ENST00000564256.1_3'UTR|POLR3E_ENST00000564209.1_Silent_p.D7D|POLR3E_ENST00000359210.4_Silent_p.D7D|POLR3E_ENST00000418581.2_Silent_p.D7D	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	7					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		AAGAGGATGACCCAGTTGTAC	0.582000													56	65					0	0	0.000781405	0	0
THEMIS	387357	broad.mit.edu	37	6	128176241	128176241	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:128176241C>T	ENST00000543064.1	-	2	332	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	THEMIS_ENST00000537166.1_Missense_Mutation_p.E27K|THEMIS_ENST00000368248.2_Missense_Mutation_p.E62K|THEMIS_ENST00000368250.1_5'UTR	NM_001164685.1	NP_001158157.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	62	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCACAAATTTCAGCTATGATC	0.358000													27	7					0	0	0.000720815	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685629	108685629	+	Missense_Mutation	SNP	C	C	T	rs149078040	by1000genomes	TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:108685629C>T	ENST00000397688.2	-	3	1474	c.1105G>A	c.(1105-1107)Ggc>Agc	p.G369S	CMKLR1_ENST00000552995.1_Missense_Mutation_p.G369S|CMKLR1_ENST00000412676.1_Missense_Mutation_p.G371S|CMKLR1_ENST00000550402.1_Missense_Mutation_p.G371S|CMKLR1_ENST00000312143.7_Missense_Mutation_p.G371S	NM_004072.2	NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	371					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CAAAGCATGCCGGTCTCCCTC	0.473000													10	55					0	0	0.000978159	0	0
MYO18B	84700	broad.mit.edu	37	22	26422565	26422565	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr22:26422565G>A	ENST00000335473.7	+	43	6875	c.6625G>A	c.(6625-6627)Gaa>Aaa	p.E2209K	MYO18B_ENST00000407587.2_Missense_Mutation_p.E2210K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E2209K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2209						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.E2210K(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGGGGACGGCGAAGTGCTTGC	0.547000													23	21					0	0	0.000229342	0	0
LMTK2	22853	broad.mit.edu	37	7	97821158	97821158	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:97821158G>A	ENST00000297293.5	+	11	1674	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	461					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGAAATGGAGGAAGTCCTCAC	0.592000													18	25					0	0	0.000132079	0	0
DUOX2	50506	broad.mit.edu	37	15	45391914	45391914	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:45391914C>T	ENST00000389039.6	-	25	3746	c.3361G>A	c.(3361-3363)Gat>Aat	p.D1121N	DUOX2_ENST00000603300.1_Missense_Mutation_p.D1121N			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1121	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				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	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|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)		ACTGCGGCATCAAAAGGCACA	0.557000													46	59					0	0	0.000781405	0	0
ABCC11	85320	broad.mit.edu	37	16	48204027	48204027	+	Missense_Mutation	SNP	G	G	A	rs139771120		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:48204027G>A	ENST00000394747.1	-	27	4229	c.3880C>T	c.(3880-3882)Cgc>Tgc	p.R1294C	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1294C|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1294C|ABCC11_ENST00000353782.5_Intron	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1294	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TTGGAGTTGCGAAGCACAGCC	0.582000													93	117					0	0	0.000781405	0	0
MUC16	94025	broad.mit.edu	37	19	9025625	9025625	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:9025625G>A	ENST00000397910.4	-	15	37032	c.36829C>T	c.(36829-36831)Cct>Tct	p.P12277S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12279	SEA 2.				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						GAGTACAGAGGGCCAACACTG	0.517000													18	49					0	0	0.000295444	0	0
CCDC60	160777	broad.mit.edu	37	12	119942892	119942892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:119942892C>T	ENST00000327554.2	+	7	1132	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	223										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)		ATTCAAAATTCCCACAATGCG	0.517000													23	22					0	0	0.000720815	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33616147	33616147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:33616147C>T	ENST00000504830.1	-	15	2509	c.2174G>A	c.(2173-2175)gGa>gAa	p.G725E	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G640E	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	725	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTCCCTTGCTCCTTTTGGAAT	0.438000										HNSCC(64;0.19)			20	20					0	0	0.000958276	0	0
ICAM2	3384	broad.mit.edu	37	17	62080233	62080233	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:62080233C>T	ENST00000412356.1	-	6	1056	c.702G>A	c.(700-702)ttG>ttA	p.L234L	ICAM2_ENST00000418105.1_Silent_p.L234L|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000579788.1_Silent_p.L234L|ICAM2_ENST00000579687.1_Silent_p.L234L|ICAM2_ENST00000578892.1_Silent_p.L210L|ICAM2_ENST00000578379.1_Silent_p.L133L|ICAM2_ENST00000449662.2_Silent_p.L234L|ICAM2_ENST00000581417.1_5'UTR	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	234					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						ACAGGGACAGCAACACCGACA	0.607000													11	19					0	0	0.000151284	0	0
CTC1	80169	broad.mit.edu	37	17	8141746	8141746	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:8141746G>A	ENST00000315684.8	-	3	406	c.399C>T	c.(397-399)ctC>ctT	p.L133L	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	133					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CTCTCACATAGAGGCTTCCGT	0.522000													56	117					0	0	0.000781405	0	0
SMPD3	55512	broad.mit.edu	37	16	68405014	68405014	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:68405014C>T	ENST00000219334.5	-	3	1674	c.1071G>A	c.(1069-1071)ctG>ctA	p.L357L	SMPD3_ENST00000563226.1_Silent_p.L357L|SMPD3_ENST00000568373.1_Silent_p.L357L	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	357					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	ACAGGAAGTCCAGGTTGGCGG	0.612000													27	44					0	0	0.000491102	0	0
BPIFB2	80341	broad.mit.edu	37	20	31601720	31601720	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr20:31601720C>T	ENST00000170150.3	+	5	608	c.413C>T	c.(412-414)tCt>tTt	p.S138F		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	138						extracellular region	lipid binding										TCTGCCTGCTCTTTATTCTCG	0.612000													15	23					0	0	0.000308642	0	0
SLC8A2	6543	broad.mit.edu	37	19	47960801	47960801	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:47960801G>A	ENST00000236877.6	-	3	1121	c.726C>T	c.(724-726)ttC>ttT	p.F242F	SLC8A2_ENST00000542837.1_5'UTR|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	242					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCATCCAGGCGAATACCACGC	0.687000													19	23					0	0	0.000229342	0	0
ADAM11	4185	broad.mit.edu	37	17	42850229	42850229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:42850229G>A	ENST00000200557.6	+	9	852	c.683G>A	c.(682-684)cGc>cAc	p.R228H	ADAM11_ENST00000535346.1_Missense_Mutation_p.R28H	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	228					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R228H(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CCCCAGGTCCGCCGGGGCCAC	0.607000													17	22					0	0	0.000958276	0	0
GUCY2C	2984	broad.mit.edu	37	12	14829831	14829831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:14829831C>T	ENST00000261170.3	-	7	1041	c.905G>A	c.(904-906)gGg>gAg	p.G302E	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	302					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						AAGGGAATTCCCAGGAGACAG	0.348000													20	10					0	0	0.000229342	0	0
FBN1	2200	broad.mit.edu	37	15	48714179	48714179	+	Missense_Mutation	SNP	C	C	T	rs363811		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:48714179C>T	ENST00000316623.5	-	61	7995	c.7540G>A	c.(7540-7542)Gga>Aga	p.G2514R		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2514	EGF-like 43; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGGGTAAATCCGGGAGGACAT	0.428000													27	33					0	0	0.000878237	0	0
TTN	7273	broad.mit.edu	37	2	179615410	179615410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:179615410C>T	ENST00000360870.5	-	46	11939	c.11717G>A	c.(11716-11718)aGa>aAa	p.R3906K	TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9726							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)			TTGTAATTCTCTCAAATCATC	0.343000													19	28					0	0	0.000229342	0	0
CPA1	1357	broad.mit.edu	37	7	130025046	130025046	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:130025046G>A	ENST00000011292.3	+	8	997	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	CPA1_ENST00000484324.1_Missense_Mutation_p.E195K	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	283					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					TGCCAATTCCGAAGTGGAGGT	0.562000													24	38					0	0	0.00047179	0	0
TRHDE	29953	broad.mit.edu	37	12	72969051	72969051	+	Silent	SNP	T	T	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:72969051T>C	ENST00000261180.4	+	11	2109	c.2013T>C	c.(2011-2013)acT>acC	p.T671T	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	671					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						ACAGAATAACTTATTTGGACA	0.338000													20	12					0	0	0.000132079	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54912444	54912444	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:54912444G>T	ENST00000293373.6	+	14	1427	c.1348G>T	c.(1348-1350)Gtg>Ttg	p.V450L	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.V400L	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	450					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GAACTTGTCTGTGTGTCCAGA	0.507000													59	36					2.02796e-37	2.52102e-36	0.000781405	1	0
GTF2A1	2957	broad.mit.edu	37	14	81662540	81662540	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:81662540A>G	ENST00000553612.1	-	6	927	c.524T>C	c.(523-525)aTc>aCc	p.I175T	GTF2A1_ENST00000434192.2_Missense_Mutation_p.I136T	NM_015859.3	NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	175					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		AGGCTGAAAGATATATTGGGC	0.438000													37	53					0	0	0.000228196	0	0
GFPT2	9945	broad.mit.edu	37	5	179739468	179739468	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:179739468C>T	ENST00000253778.8	-	15	1677	c.1508G>A	c.(1507-1509)aGg>aAg	p.R503K		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	503					dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTCTTGCCTCCTGTTTTGTAG	0.443000													18	26					0	0	0.000175454	0	0
SCAF8	22828	broad.mit.edu	37	6	155153376	155153376	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:155153376C>T	ENST00000367178.3	+	20	3239	c.2663C>T	c.(2662-2664)cCa>cTa	p.P888L	SCAF8_ENST00000417268.1_Missense_Mutation_p.P888L|SCAF8_ENST00000367186.4_Missense_Mutation_p.P954L	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	888	Pro-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme 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						GTACAGCCACCAAATGTTCCA	0.463000													49	19					0	0	0.000781405	0	0
IRAK1BP1	134728	broad.mit.edu	37	6	79607571	79607571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:79607571G>A	ENST00000369940.2	+	3	512	c.407G>A	c.(406-408)gGa>gAa	p.G136E	IRAK1BP1_ENST00000607739.1_Missense_Mutation_p.G49E	NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	136					I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		ACTGAATTTGGAAAAATGCAA	0.333000													24	8					0	0	0.00047179	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147219	26147219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:26147219G>A	ENST00000331351.5	+	2	1413	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	341					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|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)		GCTGCATCTGGAAAACTGGCT	0.547000													88	102					0	0	0.000781405	0	0
APOB	338	broad.mit.edu	37	2	21231912	21231912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:21231912C>T	ENST00000233242.1	-	26	7955	c.7828G>A	c.(7828-7830)Gct>Act	p.A2610T		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2610					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)	TGGAAGGTAGCTTTCTGAAGA	0.408000													266	282					0	0	0.000781405	0	0
KIAA1109	84162	broad.mit.edu	37	4	123107326	123107326	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:123107326A>G	ENST00000264501.4	+	7	867	c.494A>G	c.(493-495)gAt>gGt	p.D165G	KIAA1109_ENST00000388738.3_Missense_Mutation_p.D165G|KIAA1109_ENST00000455637.1_Missense_Mutation_p.D165G			Q2LD37	K1109_HUMAN	KIAA1109	165					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAGAAAGATGATGATAAAACA	0.338000													22	35					0	0	0.00047179	0	0
DNAH7	56171	broad.mit.edu	37	2	196837011	196837011	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:196837011C>T	ENST00000312428.6	-	16	2113	c.2013G>A	c.(2011-2013)agG>agA	p.R671R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	671	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						TAATGATTTTCCTGTGTTCTT	0.328000													33	48					0	0	0.000409698	0	0
STAB2	55576	broad.mit.edu	37	12	104157375	104157375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:104157375G>A	ENST00000388887.2	+	68	7798	c.7594G>A	c.(7594-7596)Gac>Aac	p.D2532N	RP11-341G23.4_ENST00000551299.1_RNA|RP11-341G23.4_ENST00000550029.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2532					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						ACCTTCCTACGACCCCTTCAC	0.478000													77	52					0	0	0.000781405	0	0
WDPCP	51057	broad.mit.edu	37	2	63665009	63665009	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:63665009C>T	ENST00000398544.3	-	1	132	c.9G>A	c.(7-9)tcG>tcA	p.S3S	WDPCP_ENST00000409199.1_Intron|WDPCP_ENST00000409120.1_Intron|WDPCP_ENST00000409835.1_Intron|WDPCP_ENST00000409562.3_Intron|WDPCP_ENST00000272321.7_Intron			O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	0					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						AATGTAGAGACGAAAACATTC	0.338000													11	37					0	0	0.000978159	0	0
SSH2	85464	broad.mit.edu	37	17	27959545	27959545	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:27959545G>A	ENST00000269033.3	-	15	2737	c.2586C>T	c.(2584-2586)taC>taT	p.Y862Y	SSH2_ENST00000540801.1_Silent_p.Y889Y|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	862					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGACCCAGGGTACCACTTGG	0.567000													36	56					0	0	0.00058488	0	0
SEMA3F	6405	broad.mit.edu	37	3	50211375	50211375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:50211375G>A	ENST00000002829.3	+	3	746	c.262G>A	c.(262-264)Gag>Aag	p.E88K	SEMA3F_ENST00000434342.1_Missense_Mutation_p.E88K|SEMA3F_ENST00000413852.1_Missense_Mutation_p.E20K	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	88	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CATCAACCGCGAGCCCCTCAT	0.632000													13	25					0	0	0.000308642	0	0
VWF	7450	broad.mit.edu	37	12	6127715	6127715	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:6127715G>A	ENST00000261405.5	-	28	5123	c.4869C>T	c.(4867-4869)atC>atT	p.I1623I		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1623	VWFA 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCACCACCTGGATGTCTCCAG	0.597000													6	21					0	0	3.59834e-05	0	0
MYO18A	399687	broad.mit.edu	37	17	27493686	27493686	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:27493686G>A	ENST00000527372.1	-	2	453	c.273C>T	c.(271-273)atC>atT	p.I91I	MYO18A_ENST00000533112.1_Silent_p.I91I|MYO18A_ENST00000354329.4_Silent_p.I91I|MYO18A_ENST00000531253.1_Silent_p.I91I	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	91					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCGAGTCCAGGATGACGCTGC	0.622000													15	22					0	0	0.000308642	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688844	26688844	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr22:26688844G>A	ENST00000529632.2	+	2	763	c.567G>A	c.(565-567)aaG>aaA	p.K189K	SEZ6L_ENST00000343706.4_Silent_p.K189K|SEZ6L_ENST00000248933.6_Silent_p.K189K|SEZ6L_ENST00000404234.3_Silent_p.K189K|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000360929.3_Silent_p.K189K	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	189						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGGACCGAAAGGAGAGTGCGG	0.662000													15	40					0	0	0.000422831	0	0
VPS13C	54832	broad.mit.edu	37	15	62182401	62182401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:62182401C>T	ENST00000261517.5	-	67	9377	c.9304G>A	c.(9304-9306)Gaa>Aaa	p.E3102K	VPS13C_ENST00000395898.3_Missense_Mutation_p.E3059K|VPS13C_ENST00000249837.3_Missense_Mutation_p.E3059K|VPS13C_ENST00000395896.4_Missense_Mutation_p.E3102K	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3102					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGCTTGCTTTCATTGTTAACC	0.403000													29	37					0	0	0.000279167	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767740	143767740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:143767740G>A	ENST00000419275.1	-	1	141	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	37	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CTCAGAGCACGAAAGTTTTCT	0.478000													69	210					0	0	0.000781405	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292820	102292820	+	RNA	SNP	G	G	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:102292820G>C	ENST00000561463.1	+	0	866																		p.T136T(2)									GCGTGGGAACGAGAAGACACT	0.592000													4	18					0	0	0.000602214	0	0
POTEC	388468	broad.mit.edu	37	18	14542899	14542899	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr18:14542899A>G	ENST00000358970.5	-	1	246	c.247T>C	c.(247-249)Tct>Cct	p.S83P	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	83										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGGTCTCCAGAAGTGCCCACG	0.582000													36	196					0	0	0.00058488	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748201	19748201	+	Silent	SNP	C	C	T	rs139947287	byFrequency	TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr13:19748201C>T	ENST00000400113.3	-	5	1259	c.1155G>A	c.(1153-1155)gcG>gcA	p.A385A		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	385					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCCAGGCCTCCGCGATGGCCG	0.627000													31	18					0	0	0.000279167	0	0
OR2A14	135941	broad.mit.edu	37	7	143826490	143826490	+	Silent	SNP	A	A	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:143826490A>C	ENST00000408899.2	+	1	340	c.285A>C	c.(283-285)ccA>ccC	p.P95P		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CCTTTTTTCCATGCATAATGC	0.453000													7	231					0	0	8.12818e-05	0	0
AKR7A3	22977	broad.mit.edu	37	1	19612767	19612767	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:19612767G>A	ENST00000361640.4	-	2	854	c.314C>T	c.(313-315)cCc>cTc	p.P105L		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	105					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		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;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCACTCGGGGACACTGCAG	0.592000													35	55					0	0	0.00111076	0	0
IFI16	3428	broad.mit.edu	37	1	159023442	159023442	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:159023442C>T	ENST00000295809.7	+	11	2460	c.2205C>T	c.(2203-2205)ctC>ctT	p.L735L	IFI16_ENST00000340979.6_Silent_p.L623L|IFI16_ENST00000359709.3_Silent_p.L679L|IFI16_ENST00000430894.2_Silent_p.L683L|IFI16_ENST00000368132.3_Silent_p.L679L|IFI16_ENST00000368131.4_Silent_p.L679L|IFI16_ENST00000448393.2_Silent_p.L623L			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	735	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					AACTGAAACTCACCTGCTTTG	0.403000													25	36					0	0	0.00106085	0	0
CYP39A1	51302	broad.mit.edu	37	6	46609919	46609919	+	Silent	SNP	T	T	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:46609919T>C	ENST00000275016.2	-	2	497	c.294A>G	c.(292-294)caA>caG	p.Q98Q		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	98					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						AAACGATATTTTGCACTGCTA	0.333000													33	5					0	0	0.000814825	0	0
HECW1	23072	broad.mit.edu	37	7	43351470	43351470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:43351470G>A	ENST00000395891.1	+	4	741	c.136G>A	c.(136-138)Gac>Aac	p.D46N	HECW1_ENST00000453890.1_Missense_Mutation_p.D46N	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	46					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						CTACAACCCCGACCAGTTCCA	0.637000													18	33					0	0	0.00074312	0	0
OR2A2	442361	broad.mit.edu	37	7	143807350	143807350	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:143807350G>A	ENST00000408979.2	+	1	744	c.675G>A	c.(673-675)ctG>ctA	p.L225L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GGGCCATCCTGAAGATCCAGA	0.512000													52	63					0	0	0.000781405	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49654505	49654505	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:49654505C>T	ENST00000249601.4	-	10	2322	c.2026G>A	c.(2026-2028)Gaa>Aaa	p.E676K	ARHGAP22_ENST00000417912.2_Missense_Mutation_p.E692K|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.E586K|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.E509K|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.E567K|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.E682K|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.E517K	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	676					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						TCCTCCATTTCCCTCTGCAAC	0.512000													48	69					0	0	0.000781405	0	0
IGHV3-48	28424	broad.mit.edu	37	14	106994241	106994241	+	RNA	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:106994241G>A	ENST00000390624.2	-	0	105																											TAGCAACAAGGAAAACCCAGC	0.463000													51	83					0	0	0.000781405	0	0
TTPA	7274	broad.mit.edu	37	8	63978645	63978645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:63978645G>A	ENST00000260116.4	-	3	401	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S	TTPA_ENST00000521138.1_Intron	NM_000370.3	NP_000361.1	P49638	TTPA_HUMAN	tocopherol (alpha) transfer protein	124	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	AAAACTTTGGGGTCCCAGTGT	0.343000													13	18					0	0	0.000219431	0	0
C16orf62	57020	broad.mit.edu	37	16	19680613	19680613	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:19680613A>T	ENST00000438132.3	+	27	2668	c.2620A>T	c.(2620-2622)Ata>Tta	p.I874L	C16orf62_ENST00000251143.5_Missense_Mutation_p.I785L|C16orf62_ENST00000543152.1_Missense_Mutation_p.I534L|C16orf62_ENST00000448695.1_Missense_Mutation_p.I635L|C16orf62_ENST00000417362.2_Missense_Mutation_p.I692L|C16orf62_ENST00000542263.1_Missense_Mutation_p.I781L	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	785						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TACTTTATTAATAGTTCCGGT	0.408000													44	36					0	0	0.000781405	0	0
NOS1	4842	broad.mit.edu	37	12	117655959	117655959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:117655959C>T	ENST00000317775.6	-	28	4866	c.4181G>A	c.(4180-4182)cGa>cAa	p.R1394Q	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.R1428Q	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1394					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	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP 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)	CTCATGGTATCGGTTGTCATC	0.473000													99	74					0	0	0.000781405	0	0
SLC14A2	8170	broad.mit.edu	37	18	43243782	43243782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr18:43243782C>T	ENST00000255226.6	+	11	2200	c.1384C>T	c.(1384-1386)Cca>Tca	p.P462S	SLC14A2_ENST00000586448.1_Missense_Mutation_p.P462S	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	462						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CACAGCAGGCCCAAAGGTGGA	0.587000													16	19					0	0	0.000958276	0	0
PADI3	51702	broad.mit.edu	37	1	17593216	17593216	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:17593216G>A	ENST00000375460.3	+	5	451	c.411G>A	c.(409-411)cgG>cgA	p.R137R		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	137					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	ATTGGCAGCGGCAGTGGGTCT	0.587000													39	44					0	0	0.000270559	0	0
ACOXL	55289	broad.mit.edu	37	2	111753534	111753534	+	Missense_Mutation	SNP	C	C	T	rs150734728	byFrequency	TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:111753534C>T	ENST00000389811.4	+	15	1548	c.1324C>T	c.(1324-1326)Cgt>Tgt	p.R442C	ACOXL_ENST00000496981.1_3'UTR|ACOXL_ENST00000439055.1_Missense_Mutation_p.R412C			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	442					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						AGTGAAATTTCGTGAAAGGGT	0.368000													37	65					0	0	0.000509022	0	0
ZNF287	57336	broad.mit.edu	37	17	16455964	16455964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:16455964G>A	ENST00000395824.1	-	6	2109	c.1492C>T	c.(1492-1494)Cat>Tat	p.H498Y	ZNF287_ENST00000395825.3_Missense_Mutation_p.H498Y			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	491					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		ACTCTCTGATGATTAATCAGT	0.373000													55	68					0	0	0.000781405	0	0
SLIT1	6585	broad.mit.edu	37	10	98807541	98807541	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:98807541G>A	ENST00000266058.4	-	16	1785	c.1540C>T	c.(1540-1542)Ccc>Tcc	p.P514S	SLIT1_ENST00000371070.4_Missense_Mutation_p.P514S|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	514	LRRNT 3.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CACTTGTGGGGACAGACCACG	0.652000													30	35					0	0	0.000184323	0	0
SSTR1	6751	broad.mit.edu	37	14	38678982	38678982	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:38678982T>G	ENST00000267377.2	+	3	1005	c.388T>G	c.(388-390)Tgc>Ggc	p.C130G		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	130					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TGCGCTGCTCTGCCGCCTCGT	0.602000													57	97					0	0	0.000781405	0	0
FGFR4	2264	broad.mit.edu	37	5	176522662	176522662	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:176522662C>T	ENST00000292408.4	+	13	2004	c.1759C>T	c.(1759-1761)Cca>Tca	p.P587S	FGFR4_ENST00000393637.1_Missense_Mutation_p.P547S|FGFR4_ENST00000502906.1_Missense_Mutation_p.P587S|FGFR4_ENST00000292410.3_Missense_Mutation_p.P547S|FGFR4_ENST00000393648.2_Missense_Mutation_p.P519S	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	587	Protein kinase.				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)	GCTCTCCTTCCCAGTCCTGGT	0.697000										TSP Lung(9;0.080)			7	8					0	0	0.000157383	0	0
CDS1	1040	broad.mit.edu	37	4	85530639	85530639	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:85530639C>T	ENST00000295887.5	+	3	726	c.303C>T	c.(301-303)ttC>ttT	p.F101F		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	101					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CGTTGTTTTTCCTGATCATCT	0.348000													40	67					0	0	0.000270559	0	0
CD200	4345	broad.mit.edu	37	3	112068651	112068651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:112068651C>T	ENST00000315711.8	+	5	844	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	CD200_ENST00000383681.3_Missense_Mutation_p.R189W|CD200_ENST00000473539.1_Missense_Mutation_p.R288W	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	263					regulation of immune response	integral to plasma membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				GAAACGTCACCGGAATCAGGA	0.358000													33	41					0	0	0.00058488	0	0
GPR98	84059	broad.mit.edu	37	5	90124925	90124925	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:90124925G>A	ENST00000405460.2	+	77	16629	c.16533G>A	c.(16531-16533)aaG>aaA	p.K5511K	GPR98_ENST00000425867.2_Silent_p.K1172K	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5511					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGCTCACAAGAAGGCCACTT	0.423000													69	109					0	0	0.000781405	0	0
ME1	4199	broad.mit.edu	37	6	83937058	83937058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:83937058G>A	ENST00000369705.3	-	11	1387	c.1271C>T	c.(1270-1272)aCc>aTc	p.T424I	ME1_ENST00000541327.1_Missense_Mutation_p.T258I|ME1_ENST00000543031.1_Missense_Mutation_p.T349I	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	424					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	p.T424S(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	CTTTACCTTGGTTATTTTGTA	0.328000													18	3					0	0	0.000132079	0	0
SRSF6	6431	broad.mit.edu	37	20	42089189	42089189	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr20:42089189C>T	ENST00000244020.3	+	5	731	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	209	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						AAGTAGGAGTCGCAGGAGCAG	0.438000													21	50					0	0	0.00047179	0	0
GPR98	84059	broad.mit.edu	37	5	89925200	89925200	+	Silent	SNP	T	T	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:89925200T>A	ENST00000405460.2	+	9	1779	c.1683T>A	c.(1681-1683)ccT>ccA	p.P561P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	561					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTACATTCCTGCTGGAGCTG	0.408000													13	24					0	0	0.000151284	0	0
TMC8	147138	broad.mit.edu	37	17	76127798	76127798	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:76127798G>A	ENST00000318430.5	+	2	503	c.129G>A	c.(127-129)atG>atA	p.M43I	TMC8_ENST00000589691.1_Intron|TMC6_ENST00000322914.3_Intron	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	43						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CCTATGCCATGATGGACAAGC	0.741000													8	5					0	0	0.000673444	0	0
PRB3	5544	broad.mit.edu	37	12	11422550	11422550	+	RNA	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:11422550G>A	ENST00000381842.3	-	0	91				PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							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)			CTTCATTTAAGCTCTGAGCTG	0.517000													4	30					0	0	0.00024832	0	0
NKD1	85407	broad.mit.edu	37	16	50664180	50664180	+	Silent	SNP	G	G	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:50664180G>T	ENST00000268459.3	+	7	770	c.546G>T	c.(544-546)cgG>cgT	p.R182R		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	182	Interaction with DVL1, DVL2 and DVL3 (By similarity).				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AGATGCTGCGGGTAAAGCTCA	0.587000													24	43					1.22574e-08	1.50204e-07	0.000295444	1	0
SEZ6L2	26470	broad.mit.edu	37	16	29897036	29897036	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:29897036G>T	ENST00000308713.5	-	8	1770	c.1243C>A	c.(1243-1245)Ccc>Acc	p.P415T	SEZ6L2_ENST00000346932.5_Missense_Mutation_p.P301T|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.P371T|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.P345T	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	415	CUB 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TAGATCACGGGGGATAGGGGG	0.612000													25	19					1.17739e-12	1.44968e-11	0.000878237	1	0
TET1	80312	broad.mit.edu	37	10	70405958	70405958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:70405958C>T	ENST00000373644.4	+	4	3681	c.3472C>T	c.(3472-3474)Cgg>Tgg	p.R1158W		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1158					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATCAAGAGATCGGCGGAAAAA	0.393000													19	33					0	0	0.000958276	0	0
MRPL42	28977	broad.mit.edu	37	12	93894980	93894980	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:93894980C>T	ENST00000549982.1	+	6	573	c.412C>T	c.(412-414)Cct>Tct	p.P138S	MRPL42_ENST00000552938.1_Intron|MRPL42_ENST00000552217.1_Missense_Mutation_p.P138S|MRPL42_ENST00000393128.4_Missense_Mutation_p.P135S|MRPL42_ENST00000361630.2_Missense_Mutation_p.P138S	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42	138					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						GAATCTGAATCCTCCAAAAGA	0.338000													15	13					0	0	0.000958276	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74880730	74880730	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:74880730C>T	ENST00000289575.5	+	6	1097	c.702C>T	c.(700-702)acC>acT	p.T234T	SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000525650.1_Silent_p.T90T|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000532236.1_Silent_p.T118T|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000428359.2_Silent_p.T212T	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	234					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TTGCAGTGACCATGATGGGGC	0.572000													9	80					0	0	0.000673444	0	0
SLC27A6	28965	broad.mit.edu	37	5	128326123	128326123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:128326123G>A	ENST00000262462.4	+	4	1945	c.935G>A	c.(934-936)gGa>gAa	p.G312E	SLC27A6_ENST00000506176.1_Missense_Mutation_p.G312E|SLC27A6_ENST00000395266.1_Missense_Mutation_p.G312E			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	312					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)		CAGTATATTGGAGAACTTTGT	0.343000													19	31					0	0	0.000958276	0	0
DMBT1	1755	broad.mit.edu	37	10	124361480	124361480	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:124361480G>A	ENST00000368909.3	+	29	3617	c.3511G>A	c.(3511-3513)Gcc>Acc	p.A1171T	DMBT1_ENST00000344338.3_Missense_Mutation_p.A1161T|DMBT1_ENST00000330163.4_Missense_Mutation_p.A672T|DMBT1_ENST00000338354.3_Missense_Mutation_p.A1171T|DMBT1_ENST00000368955.3_Missense_Mutation_p.A1161T|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.A672T	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1171	SRCR 9.				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	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface 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)				GGCCATGTCAGCCCCAGGAAA	0.592000													95	137					0	0	0.000781405	0	0
PCDH7	5099	broad.mit.edu	37	4	30725263	30725263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:30725263C>T	ENST00000361762.2	+	1	3227	c.2219C>T	c.(2218-2220)cCc>cTc	p.P740L	PCDH7_ENST00000543491.1_Missense_Mutation_p.P740L	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	740	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GACAATGCTCCCACAGTTACC	0.463000													27	51					0	0	0.000878237	0	0
NRK	203447	broad.mit.edu	37	X	105153188	105153188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chrX:105153188G>A	ENST00000428173.2	+	13	1861	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	NRK_ENST00000243300.9_Missense_Mutation_p.E519K			Q7Z2Y5	NRK_HUMAN	Nik related kinase	519	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGTACCAGAGGAATTTCAGGG	0.547000										HNSCC(51;0.14)			12	4					0	0	0.000151284	0	0
NUDT7	283927	broad.mit.edu	37	16	77775736	77775736	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:77775736C>T	ENST00000268533.5	+	4	675	c.606C>T	c.(604-606)atC>atT	p.I202I	RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000437314.3_Silent_p.I149I	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	202					nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TGGCCTTTATCATTTTGGAAA	0.368000													19	38					0	0	0.000132079	0	0
GTF3C1	2975	broad.mit.edu	37	16	27506734	27506734	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:27506734G>A	ENST00000356183.4	-	15	2445	c.2430C>T	c.(2428-2430)ctC>ctT	p.L810L	GTF3C1_ENST00000561623.1_Silent_p.L810L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	810						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCCCGTAGATGAGGTACCACA	0.582000													16	12					0	0	0.000308642	0	0
HACE1	57531	broad.mit.edu	37	6	105243490	105243490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:105243490G>A	ENST00000262903.4	-	10	1163	c.887C>T	c.(886-888)gCt>gTt	p.A296V	HACE1_ENST00000369125.2_Missense_Mutation_p.A296V	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	296					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AGCAACTTCAGCAAGGCTTGT	0.378000													29	11					0	0	0.000491102	0	0
CANT1	124583	broad.mit.edu	37	17	76993522	76993522	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:76993522G>A	ENST00000302345.2	-	2	677	c.183C>T	c.(181-183)tcC>tcT	p.S61S	CANT1_ENST00000591773.1_Silent_p.S61S|CANT1_ENST00000392446.5_Silent_p.S61S	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	61					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CCGGGCGGTGGGAGCAGAGCA	0.682000			T	ETV4	prostate								27	11					0	0	0.000720815	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316857	39316857	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:39316857G>A	ENST00000390661.3	-	1	126	c.87C>T	c.(85-87)acC>acT	p.T29T		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	29	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TCCTGCAGCAGGTGGTCTGGC	0.642000													38	40					0	0	0.000319135	0	0
AIPL1	23746	broad.mit.edu	37	17	6337367	6337367	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:6337367C>A	ENST00000381129.3	-	2	228	c.148G>T	c.(148-150)Gac>Tac	p.D50Y	AIPL1_ENST00000250087.5_Missense_Mutation_p.D50Y|AIPL1_ENST00000576776.1_Missense_Mutation_p.D50Y|AIPL1_ENST00000576307.1_Intron|AIPL1_ENST00000575265.1_Missense_Mutation_p.D50Y|AIPL1_ENST00000571740.1_Missense_Mutation_p.D50Y|AIPL1_ENST00000574506.1_Missense_Mutation_p.D38Y|AIPL1_ENST00000570466.1_Intron	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	50					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CGACTGTCGTCAATGACTGTC	0.547000													17	23					5.03518e-11	6.18488e-10	0.000958276	1	0
KNOP1	400506	broad.mit.edu	37	16	19725554	19725554	+	Silent	SNP	T	T	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:19725554T>C	ENST00000219837.7	-	2	882	c.804A>G	c.(802-804)aaA>aaG	p.K268K	AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2			lysine-rich nucleolar protein 1																		ACTTCATCTTTTTCTTTGCGG	0.478000													59	71					0	0	0.000781405	0	0
FREM2	341640	broad.mit.edu	37	13	39265763	39265763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr13:39265763G>A	ENST00000280481.7	+	1	4498	c.4282G>A	c.(4282-4284)Gga>Aga	p.G1428R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1428					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GATAAGTAAGGGAGTGTCCTT	0.403000													46	15					0	0	0.000781405	0	0
MROH2B	133558	broad.mit.edu	37	5	41019035	41019035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:41019035C>T	ENST00000399564.4	-	25	2977	c.2527G>A	c.(2527-2529)Gaa>Aaa	p.E843K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E398K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TTCAGATTTTCCAGAGGTGGA	0.473000													21	30					0	0	0.000229342	0	0
CACNA1G	8913	broad.mit.edu	37	17	48696108	48696108	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:48696108C>T	ENST00000352832.5	+	31	5790	c.5418C>T	c.(5416-5418)ttC>ttT	p.F1806F	CACNA1G_ENST00000505165.1_Silent_p.F1840F|CACNA1G_ENST00000507336.1_Silent_p.F1829F|CACNA1G_ENST00000514717.1_Silent_p.F1783F|CACNA1G_ENST00000513689.2_Silent_p.F1795F|CACNA1G_ENST00000515411.1_Silent_p.F1822F|CACNA1G_ENST00000442258.2_Silent_p.F1799F|CACNA1G_ENST00000359106.5_Silent_p.F1840F|CACNA1G_ENST00000358244.5_Silent_p.F1806F|CACNA1G_ENST00000515765.1_Silent_p.F1829F|CACNA1G_ENST00000510115.1_Silent_p.F1806F|CACNA1G_ENST00000513964.1_Silent_p.F1795F|CACNA1G_ENST00000507510.2_Silent_p.F1840F|CACNA1G_ENST00000507609.1_Silent_p.F1833F|CACNA1G_ENST00000510366.1_Silent_p.F1788F|CACNA1G_ENST00000502264.1_Silent_p.F1817F|CACNA1G_ENST00000512389.1_Silent_p.F1829F|CACNA1G_ENST00000503485.1_Silent_p.F1806F|CACNA1G_ENST00000514079.1_Silent_p.F1847F|CACNA1G_ENST00000507896.1_Silent_p.F1829F|CACNA1G_ENST00000429973.2_Silent_p.F1822F|CACNA1G_ENST00000514181.1_Silent_p.F1815F|CACNA1G_ENST00000515165.1_Silent_p.F1840F|CACNA1G_ENST00000360761.4_Silent_p.F1817F|CACNA1G_ENST00000354983.4_Silent_p.F1806F	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1840					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGGCCCAGTTCGTGCTAGTCA	0.602000													23	26					0	0	0.00047179	0	0
DSCAML1	57453	broad.mit.edu	37	11	117391915	117391915	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:117391915G>A	ENST00000321322.6	-	6	1324	c.1323C>T	c.(1321-1323)tcC>tcT	p.S441S	DSCAML1_ENST00000527706.1_Silent_p.S171S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	381	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.S441S(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGTAGGCCCCGGAATGGCTCT	0.652000													6	72					0	0	8.12818e-05	0	0
TMC7	79905	broad.mit.edu	37	16	19058499	19058499	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:19058499C>T	ENST00000421369.3	+	12	1896	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	TMC7_ENST00000304381.5_Silent_p.I556I|TMC7_ENST00000569532.1_Silent_p.I556I	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	556						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TCTGCTGGATCGGAGCCTTTT	0.507000													147	194					0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13830774	13830774	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:13830774C>T	ENST00000265104.4	-	36	6097	c.5993G>A	c.(5992-5994)gGg>gAg	p.G1998E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1998	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACGTATTTCCCGAGGCATCG	0.488000									Kartagener syndrome				34	38					0	0	0.00058488	0	0
MEI1	150365	broad.mit.edu	37	22	42114231	42114231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr22:42114231C>T	ENST00000401548.3	+	6	726	c.686C>T	c.(685-687)tCc>tTc	p.S229F	MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000540833.1_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	229							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTCTTCCTTTCCATCCTGGAT	0.463000													18	33					0	0	0.000958276	0	0
ATP6V0D1	9114	broad.mit.edu	37	16	67473036	67473036	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:67473036G>A	ENST00000290949.3	-	6	804	c.654C>T	c.(652-654)cgC>cgT	p.R218R	ATP6V0D1_ENST00000602876.1_Silent_p.R141R|ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000540149.1_Silent_p.R259R	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	218					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		TGAAGGCGCGGCGGTCTGCTT	0.592000													39	60					0	0	0.000319135	0	0
DPF2	5977	broad.mit.edu	37	11	65108974	65108974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:65108974C>T	ENST00000528416.1	+	4	539	c.406C>T	c.(406-408)Ccc>Tcc	p.P136S	DPF2_ENST00000415073.2_Missense_Mutation_p.P136S|DPF2_ENST00000252268.4_Missense_Mutation_p.P136S|DPF2_ENST00000532264.1_3'UTR	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	136					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TGCCCCGGATCCCCGAGTTGA	0.562000													23	17					0	0	0.000720815	0	0
DSC1	1823	broad.mit.edu	37	18	28728506	28728506	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr18:28728506C>T	ENST00000257197.3	-	6	988	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.E243K	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	243	Cadherin 2.				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)			ACTCTGTGTTCAAAATATGGG	0.378000													49	76					0	0	0.000781405	0	0
UNC13C	440279	broad.mit.edu	37	15	54306296	54306296	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:54306296G>A	ENST00000545554.1	+	1	1196	c.1196G>A	c.(1195-1197)gGa>gAa	p.G399E	UNC13C_ENST00000537900.1_Missense_Mutation_p.G399E|UNC13C_ENST00000260323.11_Missense_Mutation_p.G399E			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	399					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)		AAACTCAAAGGAACAGGCATT	0.408000													36	67					0	0	0.00111076	0	0
NSUN5P1	155400	broad.mit.edu	37	7	75045302	75045302	+	RNA	SNP	T	T	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:75045302T>A	ENST00000393633.2	+	0	4113																				large_intestine(1)|lung(1)	2						CAGGGACACCTAGCCCGGTGC	0.617000													24	27					0	0	0.000184323	0	0
CARM1	10498	broad.mit.edu	37	19	11015633	11015633	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:11015633A>T	ENST00000327064.4	+	2	417	c.227A>T	c.(226-228)gAt>gTt	p.D76V	CARM1_ENST00000344150.4_Missense_Mutation_p.D76V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	76					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GTAGATGAAGATGTGTGTGTC	0.587000													12	28					0	0	0.000308642	0	0
SNAPC1	6617	broad.mit.edu	37	14	62233671	62233671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:62233671C>T	ENST00000216294.4	+	2	310	c.206C>T	c.(205-207)cCa>cTa	p.P69L	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	69	SNAPC3-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		TTTTTACCTCCATACACCTTC	0.333000													23	26					0	0	0.000375601	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281958	145281958	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:145281958C>A	ENST00000369340.3	+	6	1082	c.638C>A	c.(637-639)aCa>aAa	p.T213K	RP11-458D21.5_ENST00000468030.1_Intron|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.T213K|NOTCH2NL_ENST00000344859.3_Intron			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	213	EGF-like 6.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TTTGTAGAAACAGTGAGAAGA	0.418000													8	73					0.000157383	0.00191495	0.000157383	1	0
PIK3C2A	5286	broad.mit.edu	37	11	17158169	17158169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:17158169G>A	ENST00000265970.7	-	8	1707	c.1708C>T	c.(1708-1710)Caa>Taa	p.Q570*	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Nonsense_Mutation_p.Q190*	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	570					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	GCTCGGTGTTGGTTCtttaaa	0.328000													37	15					0	0	0.000692331	0	0
NEK5	341676	broad.mit.edu	37	13	52639700	52639700	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr13:52639700C>T	ENST00000355568.4	-	22	2109	c.1970G>A	c.(1969-1971)tGg>tAg	p.W657*		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	657							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TCCTCCATCCCACTGCCTCCT	0.542000													38	11					0	0	0.000270559	0	0
TUBA3D	113457	broad.mit.edu	37	2	132238056	132238056	+	Missense_Mutation	SNP	C	C	T	rs149332264		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:132238056C>T	ENST00000321253.6	+	4	897	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	264					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GCCGTACCCCCGCATCCACTT	0.587000													51	63					0	0	0.000781405	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763665	77763665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:77763665G>A	ENST00000521891.2	+	10	4956	c.4508G>A	c.(4507-4509)gGa>gAa	p.G1503E	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G1458E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G1477E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G1458E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1458						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)			AGTCCTGTAGGAAGTGATAGT	0.473000										HNSCC(33;0.089)			15	22					0	0	0.000422831	0	0
ASTN1	460	broad.mit.edu	37	1	176853604	176853604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:176853604C>T	ENST00000367654.2	-	19	3134	c.3121G>A	c.(3121-3123)Gag>Aag	p.E1041K	ASTN1_ENST00000424564.2_Missense_Mutation_p.E1033K|ASTN1_ENST00000367657.3_Missense_Mutation_p.E1033K|ASTN1_ENST00000361833.2_Missense_Mutation_p.E1033K			O14525	ASTN1_HUMAN	astrotactin 1	1041	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTGCTGGGCTCGTGAACCGTG	0.522000													28	43					0	0	0.000227799	0	0
DNAH10	196385	broad.mit.edu	37	12	124252206	124252206	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:124252206C>G	ENST00000409039.3	+	2	110	c.85C>G	c.(85-87)Caa>Gaa	p.Q29E		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	29	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GACTTATTCTCAAAAAGTGGA	0.488000													7	9					0	0	0.000274275	0	0
ITGAV	3685	broad.mit.edu	37	2	187519427	187519427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:187519427G>A	ENST00000261023.3	+	16	1830	c.1556G>A	c.(1555-1557)aGg>aAg	p.R519K	ITGAV_ENST00000433736.2_Missense_Mutation_p.R473K|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Missense_Mutation_p.R483K	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	519					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GTACTTCCCAGGAAACTTAGT	0.269000													19	32					0	0	0.000295444	0	0
TRANK1	9881	broad.mit.edu	37	3	36874178	36874178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:36874178G>A	ENST00000301807.6	-	21	7011	c.5114C>T	c.(5113-5115)tCc>tTc	p.S1705F	TRANK1_ENST00000428977.2_Missense_Mutation_p.S1705F|TRANK1_ENST00000429976.2_Missense_Mutation_p.S2255F	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2255					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						GAACCGGAAGGATTTGTAATT	0.448000													42	70					0	0	0.000374591	0	0
NEK1	4750	broad.mit.edu	37	4	170398364	170398364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:170398364G>A	ENST00000439128.2	-	24	2901	c.2261C>T	c.(2260-2262)tCa>tTa	p.S754L	NEK1_ENST00000507142.1_Missense_Mutation_p.S782L|NEK1_ENST00000512193.1_Missense_Mutation_p.S685L|NEK1_ENST00000510533.1_Missense_Mutation_p.S710L|NEK1_ENST00000511633.1_Missense_Mutation_p.S738L	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	754					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		GCGATCAGATGAAACTGATTT	0.373000													5	11					0	0	0.000602214	0	0
GABRE	2564	broad.mit.edu	37	X	151124259	151124259	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chrX:151124259G>A	ENST00000370325.1	-	7	911	c.858C>T	c.(856-858)gtC>gtT	p.V286V	GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370328.3_Silent_p.V286V			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	286					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor 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)					CGGAAGAAGGGACATAGTTTT	0.468000													66	14					0	0	0.000781405	0	0
BIN2	51411	broad.mit.edu	37	12	51686091	51686091	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:51686091G>A	ENST00000267012.4	-	10	860	c.799C>T	c.(799-801)Cga>Tga	p.R267*	BIN2_ENST00000452142.2_Nonsense_Mutation_p.R235*|BIN2_ENST00000544402.1_Nonsense_Mutation_p.R241*|BIN2_ENST00000604560.1_Nonsense_Mutation_p.R240*	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	267						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GTAGCTGTTCGAACTGGGGGA	0.453000													26	22					0	0	0.000878237	0	0
SNHG14	104472715	broad.mit.edu	37	15	25479448	25479448	+	RNA	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:25479448C>T	ENST00000453082.2	+	0	1891				SNORD115-35_ENST00000365122.1_RNA	NR_003343.1																						ACTTAAAAATCATGCTCAATA	0.502000													74	120					0	0	0.000781405	0	0
DDX39B	7919	broad.mit.edu	37	6	31508159	31508159	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:31508159G>A	ENST00000417556.2	-	2	781	c.151C>T	c.(151-153)Ctg>Ttg	p.L51L	DDX39B_ENST00000458640.1_Silent_p.L51L|DDX39B_ENST00000449074.2_Silent_p.L51L|DDX39B_ENST00000396172.1_Silent_p.L51L|DDX39B_ENST00000453105.2_Silent_p.S46S|DDX39B_ENST00000415382.2_Silent_p.S46S|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000376177.2_Silent_p.L51L			Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	51					intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GGCTTGAGCAGGAAGTCACGA	0.557000													23	11					0	0	0.000375601	0	0
WASF3	10810	broad.mit.edu	37	13	27256852	27256852	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr13:27256852G>A	ENST00000361042.4	+	9	1308	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	WASF3_ENST00000335327.5_Silent_p.Q364Q			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	364					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)		GCCCTCTCCAGATGCCCATGC	0.637000													8	52					0	0	0.000442599	0	0
OR4C16	219428	broad.mit.edu	37	11	55339905	55339905	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:55339905C>T	ENST00000314634.3	+	1	302	c.302C>T	c.(301-303)tCa>tTa	p.S101L		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	101					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)				CAAGTCTTTTCATCCCATGTC	0.473000													94	54					0	0	0.000781405	0	0
OBFC1	79991	broad.mit.edu	37	10	105657473	105657473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:105657473G>A	ENST00000224950.3	-	7	753	c.586C>T	c.(586-588)Cca>Tca	p.P196S	OBFC1_ENST00000369764.1_Missense_Mutation_p.P196S|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	196					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		AGGGCGCCTGGATTGCTGCGG	0.453000													27	44					0	0	0.000339439	0	0
GOT1	2805	broad.mit.edu	37	10	101163500	101163500	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:101163500G>A	ENST00000370508.5	-	6	801	c.774C>T	c.(772-774)tcC>tcT	p.S258S	GOT1_ENST00000543866.1_Silent_p.S237S	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	258					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CGAAGTTCTTGGAGAAGGACT	0.552000													27	41					0	0	0.000878237	0	0
MGAM	8972	broad.mit.edu	37	7	141765200	141765200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:141765200G>A	ENST00000475668.2	+	38	4604	c.4550G>A	c.(4549-4551)gGc>gAc	p.G1517D	MGAM_ENST00000549489.2_Missense_Mutation_p.G1517D			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1517	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)	CCCTCTTCTGGCCGCTGGGCA	0.607000													10	6					0	0	0.000673444	0	0
KBTBD2	25948	broad.mit.edu	37	7	32909045	32909045	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:32909045G>A	ENST00000304056.4	-	4	2483	c.1784C>T	c.(1783-1785)cCa>cTa	p.P595L	AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	595										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TGGTTTCCATGGAGACTCTTC	0.468000													62	106					0	0	0.000781405	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39171442	39171442	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr9:39171442G>A	ENST00000297668.6	-	8	1330	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	CNTNAP3_ENST00000377656.2_Silent_p.F419F|CNTNAP3_ENST00000377659.1_Silent_p.F419F|CNTNAP3_ENST00000323947.7_Silent_p.F419F|CNTNAP3_ENST00000358144.2_Silent_p.F331F	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	419	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAAGAGGACGAAACTCCCTG	0.483000													47	16					0	0	0.000680045	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459589	107459589	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:107459589G>A	ENST00000409382.3	-	2	1455	c.845C>T	c.(844-846)gCc>gTc	p.A282V	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.A282V|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.A282V	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	282					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CAGGGGCACGGCGGGCACCAG	0.711000													9	7					0	0	0.000274275	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552568	1552568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr20:1552568C>T	ENST00000381605.4	-	3	613	c.549G>A	c.(547-549)tgG>tgA	p.W183*	SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000262929.5_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	183	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CATTTTTGAACCATTTCAGGG	0.582000													40	55					0	0	0.000509022	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148904679	148904679	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:148904679T>A	ENST00000261798.5	-	3	718	c.286A>T	c.(286-288)Agc>Tgc	p.S96C	CSNK1A1_ENST00000377843.2_Missense_Mutation_p.S96C|CSNK1A1_ENST00000515435.1_Missense_Mutation_p.S7C|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.S7C|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.S96C	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	96	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TCTTCGAGGCTAGGTCCCAGA	0.363000													14	18					0	0	0.000422831	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325488	150325488	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:150325488G>A	ENST00000328902.5	-	3	414	c.198C>T	c.(196-198)ttC>ttT	p.F66F	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	66							GTP binding			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)		GTTTAGACTCGAAGACGTCCC	0.552000													106	134					0	0	0.000781405	0	0
DECR2	26063	broad.mit.edu	37	16	461508	461508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr16:461508G>A	ENST00000219481.5	+	8	947	c.809G>A	c.(808-810)gGg>gAg	p.G270E	DECR2_ENST00000424398.2_Missense_Mutation_p.G258E|DECR2_ENST00000461947.1_Intron	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	270						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				GCCGATGGCGGGGCATGGTTG	0.622000													20	43					0	0	0.000586117	0	0
ZNF710	374655	broad.mit.edu	37	15	90617385	90617385	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:90617385T>C	ENST00000268154.4	+	4	1939	c.1688T>C	c.(1687-1689)cTg>cCg	p.L563P		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TACAACCTGCTGGGCCACATG	0.602000													20	31					0	0	0.000229342	0	0
RIMS2	9699	broad.mit.edu	37	8	104709373	104709373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:104709373C>T	ENST00000406091.3	+	2	236	c.236C>T	c.(235-237)tCa>tTa	p.S79L		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	110	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGAGAAGAATCACAGCAACAG	0.403000										HNSCC(12;0.0054)			29	31					0	0	0.000878237	0	0
OR2G6	391211	broad.mit.edu	37	1	248685759	248685759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:248685759G>A	ENST00000343414.4	+	1	844	c.812G>A	c.(811-813)gGa>gAa	p.G271E		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAAAACCAGGGAAAGTTTGTT	0.438000													39	47					0	0	0.000319135	0	0
PI4KA	5297	broad.mit.edu	37	22	21066865	21066865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr22:21066865G>A	ENST00000255882.6	-	50	5797	c.5711C>T	c.(5710-5712)tCc>tTc	p.S1904F	PI4KA_ENST00000572273.1_Missense_Mutation_p.S1846F|PI4KA_ENST00000414196.3_Missense_Mutation_p.S656F	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1846	PI3K/PI4K.				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTGGTCCCGGGAGGTGCAGTC	0.652000													9	13					0	0	0.00010058	0	0
ABCA4	24	broad.mit.edu	37	1	94463528	94463528	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:94463528G>A	ENST00000370225.3	-	48	6704	c.6618C>T	c.(6616-6618)ctC>ctT	p.L2206L	ABCA4_ENST00000536513.1_Silent_p.L476L|ABCA4_ENST00000535881.1_Silent_p.L325L	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2206					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCTGGAACTGGAGCATGTTGT	0.592000													17	23					0	0	0.000566183	0	0
PODNL1	79883	broad.mit.edu	37	19	14046617	14046617	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:14046617G>A	ENST00000339560.5	-	5	705	c.432C>T	c.(430-432)ccC>ccT	p.P144P	PODNL1_ENST00000538371.2_Silent_p.P142P|PODNL1_ENST00000538517.2_Intron|PODNL1_ENST00000254320.3_Silent_p.P62P	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	144	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			GGAGGGACCGGGGCAGAAACT	0.657000													4	8					0	0	0.00024832	0	0
MEGF6	1953	broad.mit.edu	37	1	3427395	3427395	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:3427395C>G	ENST00000356575.4	-	10	1412	c.1186G>C	c.(1186-1188)Ggc>Cgc	p.G396R	MEGF6_ENST00000294599.4_Missense_Mutation_p.G291R	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	396	EGF-like 7.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCGTAGCAGCCGCACTCGTAC	0.692000													15	31					0	0	0.000422831	0	0
ANXA10	11199	broad.mit.edu	37	4	169098907	169098907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr4:169098907G>A	ENST00000359299.3	+	7	683	c.497G>A	c.(496-498)gGa>gAa	p.G166E		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	166							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AGAGAGGAAGGATATACAGAC	0.438000													22	39					0	0	0.000295444	0	0
SNHG14	104472715	broad.mit.edu	37	15	25417815	25417815	+	RNA	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:25417815G>A	ENST00000549301.1	+	0	503				SNORD115-2_ENST00000362842.1_RNA|SNHG14_ENST00000553149.1_RNA																							TTTTCTTGAAGAGAGGTGATG	0.517000													65	91					0	0	0.000781405	0	0
MUC17	140453	broad.mit.edu	37	7	100679881	100679881	+	Silent	SNP	T	T	C			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:100679881T>C	ENST00000306151.4	+	3	5248	c.5184T>C	c.(5182-5184)cgT>cgC	p.R1728R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1728	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGAAGCCCGTTCATCTCCTA	0.502000													103	186					0	0	0.000781405	0	0
UBE2F	140739	broad.mit.edu	37	2	238881822	238881822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:238881822G>A	ENST00000272930.4	+	2	267	c.73G>A	c.(73-75)Gac>Aac	p.D25N	UBE2F_ENST00000414443.1_Missense_Mutation_p.D25N|UBE2F-SCLY_ENST00000449191.1_Missense_Mutation_p.D25N|UBE2F_ENST00000409332.1_Missense_Mutation_p.D25N|UBE2F_ENST00000409953.1_Intron|UBE2F_ENST00000409633.1_Missense_Mutation_p.D25N	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN	ubiquitin-conjugating enzyme E2F (putative)	25	Interaction with UBA3.				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		CACAGCGTCCGACTCGACTCG	0.463000													34	10					0	0	0.000491102	0	0
NXPE3	91775	broad.mit.edu	37	3	101540275	101540275	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr3:101540275C>T	ENST00000422132.1	+	5	1354	c.1157C>T	c.(1156-1158)cCc>cTc	p.P386L	NXPE3_ENST00000491511.1_Missense_Mutation_p.P386L|NXPE3_ENST00000477909.1_Missense_Mutation_p.P386L|NXPE3_ENST00000273347.5_Missense_Mutation_p.P386L					neurexophilin and PC-esterase domain family, member 3																		TTGGGTAGTCCCAAGAATGTG	0.428000													23	46					0	0	0.000586117	0	0
MROH5	389690	broad.mit.edu	37	8	142487573	142487573	+	RNA	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:142487573C>T	ENST00000430863.1	-	0	1455					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		GGCTCCTTCTCCATCAAAACC	0.667000													33	18					0	0	0.00058488	0	0
RP1	6101	broad.mit.edu	37	8	55538573	55538573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr8:55538573G>A	ENST00000220676.1	+	4	2279	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	711					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)			AATTACAAAGGAAATGATAGT	0.353000													17	18					0	0	0.00074312	0	0
CD5	921	broad.mit.edu	37	11	60885660	60885660	+	Silent	SNP	G	G	A	rs141935047		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:60885660G>A	ENST00000347785.3	+	3	274	c.108G>A	c.(106-108)agG>agA	p.R36R		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	36	SRCR 1.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	p.R36R(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TCCAGGCAAGGCTCACCCGTT	0.642000													41	22					0	0	0.000509022	0	0
BRINP3	339479	broad.mit.edu	37	1	190067325	190067325	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:190067325G>A	ENST00000367462.3	-	8	2355	c.2124C>T	c.(2122-2124)gaC>gaT	p.D708D	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.D606D	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		708						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)					TATTTACACGGTCTCTGATCT	0.483000													27	56					0	0	0.000586117	0	0
ART5	116969	broad.mit.edu	37	11	3661163	3661163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:3661163G>A	ENST00000397068.3	-	2	888	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	ART5_ENST00000359918.4_Missense_Mutation_p.R166C|ART5_ENST00000397067.3_Missense_Mutation_p.R166C	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	166						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTTCAAAGCGAAGGCTGCCC	0.627000													14	21					0	0	0.000219431	0	0
AP3S1	1176	broad.mit.edu	37	5	115177414	115177414	+	Translation_Start_Site	SNP	T	T	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:115177414T>A	ENST00000316788.7	+	0	237				ATG12_ENST00000509910.1_5'UTR|ATG12_ENST00000274459.4_5'UTR	NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit						insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		GTCGCAGACCTCTGAACGTTA	0.567000													18	35					0	0	0.000566183	0	0
GCOM1	145781	broad.mit.edu	37	15	57910298	57910298	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr15:57910298G>A	ENST00000574161.1	+	3	349	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	GCOM1_ENST00000380561.2_Missense_Mutation_p.R77Q|GCOM1_ENST00000380569.2_Missense_Mutation_p.R77Q|GCOM1_ENST00000587652.1_Missense_Mutation_p.R77Q|GCOM1_ENST00000380560.2_Missense_Mutation_p.R77Q|GCOM1_ENST00000380568.3_Missense_Mutation_p.R77Q|MYZAP_ENST00000380565.4_Missense_Mutation_p.R77Q|POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000267853.5_Missense_Mutation_p.R77Q|GCOM1_ENST00000396180.1_Missense_Mutation_p.R77Q|GCOM1_ENST00000572390.1_Missense_Mutation_p.R77Q	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		77					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GGTGTGGTGCGAAGATCAGAT	0.408000													13	32					0	0	0.000151284	0	0
LCE2A	353139	broad.mit.edu	37	1	152671548	152671548	+	Silent	SNP	G	G	A	rs61812671		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:152671548G>A	ENST00000368779.1	+	2	222	c.171G>A	c.(169-171)ggG>ggA	p.G57G		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	57	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGCTCTGGGGGCTGCTGCA	0.682000													29	48					0	0	0.000184323	0	0
ASB10	136371	broad.mit.edu	37	7	150883937	150883937	+	Missense_Mutation	SNP	C	C	T	rs147737381	byFrequency	TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:150883937C>T	ENST00000422024.1	-	1	541	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	ASB10_ENST00000275838.1_Missense_Mutation_p.R94Q|ASB10_ENST00000420175.2_Missense_Mutation_p.R94Q|ASB10_ENST00000434669.1_Missense_Mutation_p.R139Q|ASB10_ENST00000377867.3_Intron	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	94					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATCCCTCCATCGCTCTGGGTC	0.642000													17	10					0	0	0.00074312	0	0
EIF3B	8662	broad.mit.edu	37	7	2419114	2419114	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr7:2419114C>T	ENST00000360876.4	+	18	2483	c.2427C>T	c.(2425-2427)ccC>ccT	p.P809P	EIF3B_ENST00000397011.2_Silent_p.P809P	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	809					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		AAATCATTCCCCTCGGGAATC	0.582000													4	2					0	0	0.000602214	0	0
ASXL3	80816	broad.mit.edu	37	18	31318689	31318689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr18:31318689G>A	ENST00000269197.5	+	11	1321	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GGAGTCAGAGGATATCTTGAT	0.418000													44	67					0	0	0.000781405	0	0
EXOC6	54536	broad.mit.edu	37	10	94715367	94715367	+	Silent	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:94715367C>T	ENST00000371552.4	+	17	1683	c.1654C>T	c.(1654-1656)Ctg>Ttg	p.L552L	EXOC6_ENST00000443748.2_Silent_p.L454L|EXOC6_ENST00000260762.6_Silent_p.L557L|EXOC6_ENST00000371547.4_Silent_p.L573L	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	557					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				CACAACACACCTGGAGCAAGC	0.294000													97	169					0	0	0.000781405	0	0
CEACAM20	125931	broad.mit.edu	37	19	45021052	45021052	+	RNA	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:45021052G>A	ENST00000454753.1	-	0	1542							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGGCCAGTGAGAGAGTTGGAG	0.602000													145	192					0	0	0.000781405	0	0
ZNF615	284370	broad.mit.edu	37	19	52497837	52497837	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr19:52497837G>A	ENST00000602063.1	-	6	841	c.492C>T	c.(490-492)tcC>tcT	p.S164S	ZNF615_ENST00000598071.1_Silent_p.S175S|ZNF615_ENST00000376716.5_Silent_p.S164S|ZNF615_ENST00000594083.1_Silent_p.S175S|ZNF615_ENST00000391795.3_Silent_p.S169S			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CATGAAAAAGGGATTTCCCAT	0.328000													41	65					0	0	0.000374591	0	0
ASXL3	80816	broad.mit.edu	37	18	31324348	31324348	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr18:31324348G>A	ENST00000269197.5	+	12	4536	c.4536G>A	c.(4534-4536)caG>caA	p.Q1512Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CATCCGTACAGCCCGTGGCGT	0.557000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	23					0	0	0.000978159	0	0
RASAL2	9462	broad.mit.edu	37	1	178427138	178427138	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr1:178427138G>A	ENST00000448150.3	+	14	3496	c.2678G>A	c.(2677-2679)aGa>aAa	p.R893K	RASAL2_ENST00000462775.1_Missense_Mutation_p.R763K|RASAL2_ENST00000367649.3_Missense_Mutation_p.R904K	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	763					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCCCAAGTGAGAAGGCCCCTG	0.567000													29	45					0	0	0.000184323	0	0
OTOP3	347741	broad.mit.edu	37	17	72943163	72943163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:72943163G>A	ENST00000328801.4	+	6	1213	c.1213G>A	c.(1213-1215)Gac>Aac	p.D405N		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	405						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GAGAGAGCTGGACACGGTCAA	0.597000													26	36					0	0	0.000878237	0	0
SOX6	55553	broad.mit.edu	37	11	16007843	16007843	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:16007843G>A	ENST00000352083.6	-	15	2167	c.2090C>T	c.(2089-2091)aCc>aTc	p.T697I	SOX6_ENST00000316399.6_Missense_Mutation_p.T677I|SOX6_ENST00000528429.1_Missense_Mutation_p.T697I|SOX6_ENST00000528252.1_Missense_Mutation_p.T670I|SOX6_ENST00000396356.3_Missense_Mutation_p.T677I|SOX6_ENST00000527619.1_Missense_Mutation_p.T673I			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	697					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.T673I(1)|p.T677I(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						AACAATGCAGGTGCGTTTCGG	0.468000													14	103					0	0	0.000422831	0	0
APBB1IP	54518	broad.mit.edu	37	10	26802512	26802512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:26802512G>A	ENST00000376236.4	+	8	1191	c.736G>A	c.(736-738)Gac>Aac	p.D246N		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	246	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AGTCTTATCAGACTGGACAAG	0.348000													45	47					0	0	0.000437636	0	0
PRB3	5544	broad.mit.edu	37	12	11422549	11422549	+	RNA	SNP	A	A	G			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr12:11422549A>G	ENST00000381842.3	-	0	92				PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							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)			CCTTCATTTAAGCTCTGAGCT	0.512000													4	30					0	0	0.00024832	0	0
FAM155A	728215	broad.mit.edu	37	13	107822868	107822868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr13:107822868C>T	ENST00000375915.2	-	3	1492	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	452						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GTTGAGTTTTCTTCCAGCGTG	0.517000													21	23					0	0	0.000375601	0	0
FBXO11	80204	broad.mit.edu	37	2	48047553	48047553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:48047553G>A	ENST00000403359.3	-	14	1817	c.1745C>T	c.(1744-1746)cCa>cTa	p.P582L	FBXO11_ENST00000434523.2_Intron|FBXO11_ENST00000316377.4_Missense_Mutation_p.P498L|FBXO11_ENST00000402508.1_Missense_Mutation_p.P498L	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	582					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCGAACAATTGGACAACTGTT	0.358000			"""Mis, F, D"""		DLBCL								32	31					0	0	0.00111076	0	0
ABCC3	8714	broad.mit.edu	37	17	48746561	48746561	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr17:48746561G>A	ENST00000285238.8	+	16	2078	c.1998G>A	c.(1996-1998)ggG>ggA	p.G666G		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	666	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TGGGCTGTGGGAAGTCCTCCC	0.637000													26	37					0	0	0.000586117	0	0
KIAA0947	23379	broad.mit.edu	37	5	5461345	5461345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr5:5461345C>T	ENST00000296564.7	+	13	2120	c.1898C>T	c.(1897-1899)tCt>tTt	p.S633F		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	633										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTTTCTTCCTCTTCTACCTTG	0.413000													26	65					0	0	0.000586117	0	0
PLB1	151056	broad.mit.edu	37	2	28752248	28752248	+	Silent	SNP	G	G	A	rs146542771		TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr2:28752248G>A	ENST00000422425.2	+	7	434	c.390G>A	c.(388-390)aaG>aaA	p.K130K	PLB1_ENST00000327757.5_Silent_p.K130K	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	130	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)					ACACTGGAAAGAGAGTCATAC	0.473000													20	31					0	0	0.000175454	0	0
GFRAL	389400	broad.mit.edu	37	6	55216051	55216051	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr6:55216051G>A	ENST00000340465.2	+	5	457	c.370_splice	c.e5-1	p.G124_splice		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	124						integral to membrane	receptor activity	p.G124V(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTGCTTTCAGGATTCAAAGGG	0.433000													81	32					0	0	0.000781405	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420039	105420039	+	Silent	SNP	G	G	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr14:105420039G>A	ENST00000333244.5	-	7	1868	c.1749C>T	c.(1747-1749)ccC>ccT	p.P583P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	583						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTTGAACTTGGGCATTCTTA	0.517000													87	142					0	0	0.000781405	0	0
FAM21EP	100421577	broad.mit.edu	37	10	51814321	51814321	+	RNA	DEL	G	G	-			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr10:51814321delG	ENST00000456967.1	-	0	1657					NR_038275.1																						ACTCTATTGAGAAAAACCTGA	0.353													3	6	---	---	---	---					
RP11-347E10.1	0	broad.mit.edu	37	11	110267507	110267507	+	RNA	DEL	A	A	-			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr11:110267507delA	ENST00000526605.1	+	0	563																											tcaccggagcaatggttggaa	0.552													2	4	---	---	---	---					
SACS	26278	broad.mit.edu	37	13	23909148	23909148	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr13:23909148delA	ENST00000382298.3	-	10	9455	c.8867delT	c.(8866-8868)tafs	p.L2956fs	SACS_ENST00000402364.1_Frame_Shift_Del_p.L2206fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.L2956fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2956					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAACTTCTTTAAAGTGTCCTT	0.353													35	28	---	---	---	---					
EDNRB	1910	broad.mit.edu	37	13	78477656	78477657	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A29Q-06A-11D-A197-08	TCGA-EE-A29Q-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35e256d0-d613-4777-9d2b-8aa00f13d13f	debe2543-9a8d-4f24-8802-5b59f3ca5e28	g.chr13:78477656_78477657insA	ENST00000377211.4	-	3	991_992	c.839_840insT	c.(838-840)cagfs	p.Q280fs	EDNRB_ENST00000334286.5_Frame_Shift_Ins_p.Q190fs|EDNRB_ENST00000446573.1_Frame_Shift_Ins_p.Q190fs	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	190					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CACATAGACTCAGCACAGTGAT	0.406													9	63	---	---	---	---