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
FSIP2	401024	broad.mit.edu	37	2	186680137	186680137	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:186680137T>A	ENST00000343098.5	+	19	20632	c.20632T>A	c.(20632-20634)Ttc>Atc	p.F6878I	FSIP2_ENST00000424728.1_Missense_Mutation_p.F6789I	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AACACATTACTTCATACACAG	0.308000													4	32					0	0	0.000248	0	0
RPAP2	79871	broad.mit.edu	37	1	92789427	92789427	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:92789427G>A	ENST00000370343.3	+	8	1059	c.950G>A	c.(949-951)aGt>aAt	p.S317N	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	317						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AATTCTGAAAGTGAATACAGT	0.343000													15	45					0	0	0.002450	0	0
SCNN1G	6340	broad.mit.edu	37	16	23203735	23203735	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:23203735G>T	ENST00000300061.2	+	4	824	c.681G>T	c.(679-681)caG>caT	p.Q227H		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	227					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ATGCCATTCAGGAGTGGTATA	0.502000													8	54					3.09899e-07	4.68322e-07	0.004482	1	0
DCBLD1	285761	broad.mit.edu	37	6	117864336	117864336	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:117864336G>T	ENST00000338728.5	+	12	1527	c.1407G>T	c.(1405-1407)ctG>ctT	p.L469L	GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Silent_p.L469L|DCBLD1_ENST00000368503.4_Silent_p.L270L|DCBLD1_ENST00000534777.1_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	469					cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TTGTTGTCCTGGTGTTTGCTG	0.378000													20	71					3.62473e-10	6.26428e-10	0.001882	1	0
ZIC4	84107	broad.mit.edu	37	3	147120558	147120558	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:147120558C>A	ENST00000383075.3	-	2	539	c.27G>T	c.(25-27)atG>atT	p.M9I	ZIC4_ENST00000491672.1_Missense_Mutation_p.M9I|ZIC4_ENST00000473123.1_Missense_Mutation_p.M9I|ZIC4_ENST00000425731.3_Missense_Mutation_p.M47I|ZIC4_ENST00000484399.1_Missense_Mutation_p.M9I|ZIC4_ENST00000525172.2_Missense_Mutation_p.M59I	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	9						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						ATCGTTTCCTCATCACCAAGG	0.378000													18	40					1.64113e-05	2.2528e-05	0.001523	1	0
BCHE	590	broad.mit.edu	37	3	165547336	165547336	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:165547336C>T	ENST00000264381.3	-	2	1652	c.1486G>A	c.(1486-1488)Gtg>Atg	p.V496M	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	496					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CACCGTTTCACTATGGATCTA	0.393000													7	38					0	0	0.003080	0	0
FEM1B	10116	broad.mit.edu	37	15	68582377	68582377	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:68582377C>A	ENST00000306917.4	+	2	1296	c.681C>A	c.(679-681)gcC>gcA	p.A227A		NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	227					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						AAGTAGCTGCCGAAAGCTGTA	0.473000													12	36					0.00010058	0.000127426	0.001368	1	0
PZP	5858	broad.mit.edu	37	12	9356398	9356398	+	Missense_Mutation	SNP	G	G	A	rs150991757	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:9356398G>A	ENST00000261336.2	-	2	261	c.233C>T	c.(232-234)gCg>gTg	p.A78V		NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GTCCTTCTCCGCCACCAGGTC	0.512000													19	61					0	0	0.007413	0	0
USP18	11274	broad.mit.edu	37	22	18640461	18640461	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr22:18640461A>G	ENST00000215794.7	+	2	461	c.31A>G	c.(31-33)Atc>Gtc	p.I11V		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	11					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						CCTGAGGCAAATCTGTCAGTC	0.572000											OREG0026287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	199					0	0	0.002836	0	0
KRT13	3860	broad.mit.edu	37	17	39661464	39661464	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:39661464G>A	ENST00000246635.3	-	1	385	c.339C>T	c.(337-339)gaC>gaT	p.D113D	KRT13_ENST00000587544.1_Silent_p.D113D|KRT13_ENST00000336861.3_Silent_p.D113D	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	113	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				AAGCCAGGCGGTCGTTGAGGT	0.587000													19	78					0	0	0.008871	0	0
KRT6B	3854	broad.mit.edu	37	12	52843418	52843418	+	Splice_Site	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:52843418C>T	ENST00000252252.3	-	5	960		c.e5-1			NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B						ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GGGACAGCTCCTGCAGAACAG	0.512000													17	82					0	0	0.004007	0	0
USP28	57646	broad.mit.edu	37	11	113712397	113712397	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:113712397C>A	ENST00000003302.4	-	4	430	c.362G>T	c.(361-363)aGa>aTa	p.R121I	USP28_ENST00000542033.1_5'UTR|USP28_ENST00000545540.1_5'UTR|USP28_ENST00000537706.1_Missense_Mutation_p.R121I|USP28_ENST00000260188.5_Missense_Mutation_p.R121I	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	121					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GTTAAGATCTCTTCCATCAGC	0.393000													5	67					2.0095e-06	2.89402e-06	0.001984	1	0
FGD4	121512	broad.mit.edu	37	12	32786555	32786555	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:32786555A>C	ENST00000427716.2	+	15	2258	c.1834A>C	c.(1834-1836)Aaa>Caa	p.K612Q	FGD4_ENST00000525053.1_Missense_Mutation_p.K724Q|FGD4_ENST00000546442.1_Missense_Mutation_p.K519Q|FGD4_ENST00000534526.2_Missense_Mutation_p.K749Q|FGD4_ENST00000266482.3_Missense_Mutation_p.K364Q|FGD4_ENST00000531134.1_Missense_Mutation_p.K697Q	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	612					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CAAAGTTTGTAAAGACTGTTA	0.299000													9	30					0	0	0.004482	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659591	24659591	+	RNA	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr22:24659591A>G	ENST00000414583.2	+	0	3116					NR_003714.1																						ACTCACTGACATCGAAGGCTG	0.632000													3	11					0	0	0.000248	0	0
PRR5	55615	broad.mit.edu	37	22	45132666	45132666	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr22:45132666C>T	ENST00000403581.1	+	10	1384	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5_ENST00000336985.6_Missense_Mutation_p.R236C|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000517296.3_Intron	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		GCGCCTCCTCCGCCGCTCCCG	0.677000													10	78					0	0	0.006214	0	0
PSME4	23198	broad.mit.edu	37	2	54147481	54147481	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:54147481C>T	ENST00000404125.1	-	19	2324	c.2269G>A	c.(2269-2271)Ggc>Agc	p.G757S	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	757					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCGGGTTTGCCCCAGTCCTAG	0.393000													10	55					0	0	0.000978	0	0
DCC	1630	broad.mit.edu	37	18	50451740	50451740	+	Splice_Site	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:50451740G>T	ENST00000442544.2	+	5	1601	c.985_splice	c.e5+1	p.V329_splice	DCC_ENST00000412726.1_Splice_Site_p.V177_splice	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	329					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACAGTCTTGGGTAAGTTAGT	0.373000													11	56					2.27111e-07	3.43984e-07	0.001368	1	0
MYH11	4629	broad.mit.edu	37	16	15826436	15826436	+	Silent	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:15826436A>T	ENST00000338282.6	-	27	3742	c.3636T>A	c.(3634-3636)ctT>ctA	p.L1212L	MYH11_ENST00000452625.2_Silent_p.L1219L|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000576790.1_Silent_p.L1212L|MYH11_ENST00000300036.5_Silent_p.L1212L|MYH11_ENST00000396324.3_Silent_p.L1219L	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1212					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TGAACTGCTCAAGCTGCTCTG	0.517000			T	CBFB	AML								17	132					0	0	0.006122	0	0
CPB1	1360	broad.mit.edu	37	3	148558715	148558715	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:148558715A>T	ENST00000491148.1	+	6	761	c.427A>T	c.(427-429)Agt>Tgt	p.S143C	CPB1_ENST00000282957.4_Missense_Mutation_p.S143C			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	143					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CATCTCTCGCAGTGTTATCGG	0.438000													10	39					0	0	0.008291	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227300084	227300084	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:227300084T>C	ENST00000366769.3	-	14	3221	c.1930A>G	c.(1930-1932)Aaa>Gaa	p.K644E	CDC42BPA_ENST00000366767.3_Missense_Mutation_p.K563E|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.K644E|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.K644E|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.K644E|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.K644E|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.K644E	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	644					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTCCTGTCTTTAGATGCTTCA	0.363000													20	77					0	0	0.003330	0	0
FAT4	79633	broad.mit.edu	37	4	126337697	126337697	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:126337697G>T	ENST00000394329.3	+	6	6951	c.6938G>T	c.(6937-6939)aGt>aTt	p.S2313I	FAT4_ENST00000335110.5_Missense_Mutation_p.S611I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2313	Cadherin 22.				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						CTCTCAGCCAGTGGAGAACTT	0.433000													10	82					4.68919e-08	7.41905e-08	0.008291	1	0
KCTD3	51133	broad.mit.edu	37	1	215775296	215775296	+	Splice_Site	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:215775296G>C	ENST00000259154.4	+	11	1315	c.1021_splice	c.e11+1	p.D341_splice		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	341						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATATTACATAGGTAAGTGTTC	0.313000													8	18					0	0	0.003080	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140723874	140723874	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:140723874C>A	ENST00000253812.6	+	1	274	c.274C>A	c.(274-276)Cgg>Agg	p.R92R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGATAGACCGGGAGGAGCT	0.498000													10	46					0.00621372	0.00688823	0.006214	1	0
ACSM2B	348158	broad.mit.edu	37	16	20554585	20554585	+	Splice_Site	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:20554585C>A	ENST00000329697.6	-	11	1450		c.e11-1		ACSM2B_ENST00000565232.1_Splice_Site|ACSM2B_ENST00000567001.1_Splice_Site|ACSM2B_ENST00000565322.1_Splice_Site	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B						fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CGGGATTTTCCTGGTGACCAC	0.483000													20	119					9.57634e-11	1.70302e-10	0.003330	1	0
TRBV3-1	28619	broad.mit.edu	37	7	142008760	142008760	+	RNA	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:142008760C>A	ENST00000390387.3	+	0	280																											ATAAATGAAACAGTTCCAAAT	0.373000													9	64					0.00448238	0.005069	0.004482	1	0
NCAN	1463	broad.mit.edu	37	19	19344651	19344651	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:19344651G>C	ENST00000252575.5	+	9	3116	c.3073G>C	c.(3073-3075)Gcc>Ccc	p.A1025P	NCAN_ENST00000538881.1_Missense_Mutation_p.A476P	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1025	EGF-like 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GACATGTAATGCCAATGGCAC	0.517000													18	40					0	0	0.001523	0	0
EFCAB12	90288	broad.mit.edu	37	3	129130082	129130082	+	Silent	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:129130082C>G	ENST00000505956.1	-	5	1116	c.954G>C	c.(952-954)acG>acC	p.T318T	EFCAB12_ENST00000326085.3_Silent_p.T318T	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		TCTCCATCTGCGTGTCGACTG	0.622000													6	11					0	0	0.001168	0	0
PRR5	55615	broad.mit.edu	37	22	45132667	45132667	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr22:45132667G>T	ENST00000403581.1	+	10	1385	c.776G>T	c.(775-777)cGc>cTc	p.R259L	PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5_ENST00000336985.6_Missense_Mutation_p.R236L|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000517296.3_Intron	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		CGCCTCCTCCGCCGCTCCCGC	0.677000													10	78					2.52707e-12	4.67924e-12	0.006214	1	0
APAF1	317	broad.mit.edu	37	12	99102470	99102470	+	Silent	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:99102470A>T	ENST00000357310.1	+	19	3277	c.2700A>T	c.(2698-2700)atA>atT	p.I900I	APAF1_ENST00000333991.1_Intron|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000550527.1_Silent_p.I932I|APAF1_ENST00000547045.1_Silent_p.I900I|APAF1_ENST00000549007.1_Silent_p.I900I|APAF1_ENST00000339433.3_Silent_p.I900I|APAF1_ENST00000551964.1_Silent_p.I943I|APAF1_ENST00000359972.2_Silent_p.I889I	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	943					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTGACCATATAAGACGTCTGC	0.328000													5	14					0	0	0.000602	0	0
NCOA1	8648	broad.mit.edu	37	2	24888641	24888641	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:24888641A>G	ENST00000405141.1	+	7	824	c.113A>G	c.(112-114)cAa>cGa	p.Q38R	NCOA1_ENST00000538539.1_Missense_Mutation_p.Q38R|NCOA1_ENST00000288599.5_Missense_Mutation_p.Q38R|NCOA1_ENST00000406961.1_Missense_Mutation_p.Q38R|NCOA1_ENST00000348332.3_Missense_Mutation_p.Q38R|NCOA1_ENST00000395856.3_Missense_Mutation_p.Q38R|NCOA1_ENST00000407230.1_Intron			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	38	Helix-loop-helix motif.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCAGGGAGCAAGAAAATAAA	0.373000			T	PAX3	alveolar rhadomyosarcoma								6	31					0	0	0.001168	0	0
OR5K3	403277	broad.mit.edu	37	3	98109761	98109761	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:98109761C>G	ENST00000383695.1	+	1	252	c.252C>G	c.(250-252)aaC>aaG	p.N84K	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TGTTAGAGAACTTCTTTTCTG	0.403000													40	188					0	0	0.002852	0	0
C1orf173	127254	broad.mit.edu	37	1	75065539	75065539	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:75065539T>G	ENST00000326665.5	-	11	1784	c.1566A>C	c.(1564-1566)caA>caC	p.Q522H	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.Q325H	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	522	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCCATTCATTTGAACATCAG	0.388000													20	118					0	0	0.008871	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485066	97485066	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:97485066A>T	ENST00000376705.2	+	2	1054	c.1030A>T	c.(1030-1032)Aac>Tac	p.N344Y		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	344						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TGCAAAGAACAACCTGAAGAA	0.488000													9	51					0	0	0.008291	0	0
WEE2	494551	broad.mit.edu	37	7	141418964	141418964	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:141418964C>A	ENST00000397541.2	+	4	1084	c.678C>A	c.(676-678)gtC>gtA	p.V226V	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	226	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					TTGGTACAGTCTACAAGTGCA	0.373000													16	50					2.31682e-05	3.14826e-05	0.003163	1	0
CLCA2	9635	broad.mit.edu	37	1	86919061	86919061	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:86919061A>T	ENST00000370565.4	+	13	2327	c.2165A>T	c.(2164-2166)cAg>cTg	p.Q722L	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	722					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GGTAATATTCAGATGAATGCT	0.413000													7	45					0	0	0.003080	0	0
TRMT2A	27037	broad.mit.edu	37	22	20104030	20104030	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr22:20104030T>C	ENST00000252136.7	-	2	518	c.130A>G	c.(130-132)Aaa>Gaa	p.K44E	RANBP1_ENST00000430524.1_Intron|TRMT2A_ENST00000403707.3_Missense_Mutation_p.K44E|TRMT2A_ENST00000404751.3_Missense_Mutation_p.K44E|TRMT2A_ENST00000439169.2_Missense_Mutation_p.K44E	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	44					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						GCGCCCTCTTTCTCCACCTCC	0.642000													7	40					0	0	0.001984	0	0
TRBV27	28560	broad.mit.edu	37	7	142423226	142423226	+	RNA	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:142423226A>T	ENST00000506718.1	+	0	401				TRBV27_ENST00000390399.3_RNA																							ATGGGCCCCCAGCTCCTTGGC	0.547000													8	16					0	0	0.006214	0	0
CD300E	342510	broad.mit.edu	37	17	72619802	72619802	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:72619802C>A	ENST00000392619.1	-	1	75	c.40G>T	c.(40-42)Gga>Tga	p.G14*	CD300E_ENST00000426295.2_Nonsense_Mutation_p.G28*	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	0						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						AATCTAGGTCCCAGCTGGAAT	0.502000													13	51					0.00010058	0.000127426	0.001368	1	0
LRRN3	54674	broad.mit.edu	37	7	110764717	110764717	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:110764717T>C	ENST00000451085.1	+	4	2935	c.1889T>C	c.(1888-1890)aTg>aCg	p.M630T	IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.M630T|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.M630T|IMMP2L_ENST00000405709.2_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	630						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ACAACACTTATGGCCTGTCTT	0.413000													14	50					0	0	0.002450	0	0
SLC4A4	8671	broad.mit.edu	37	4	72316219	72316219	+	Silent	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:72316219T>A	ENST00000340595.3	+	7	1231	c.1035T>A	c.(1033-1035)atT>atA	p.I345I	SLC4A4_ENST00000512686.1_Silent_p.I345I|SLC4A4_ENST00000425175.1_Silent_p.I389I|SLC4A4_ENST00000264485.5_Silent_p.I389I|SLC4A4_ENST00000351898.6_Silent_p.I389I|SLC4A4_ENST00000514331.1_3'UTR	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	389						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ATCCAGCAATTAGGATAGAGC	0.433000													5	19					0	0	0.001168	0	0
ANK2	287	broad.mit.edu	37	4	113970941	113970941	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:113970941T>A	ENST00000357077.4	+	1	110	c.57T>A	c.(55-57)agT>agA	p.S19R	ANK2_ENST00000264366.6_Missense_Mutation_p.S19R|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Missense_Mutation_p.S19R|RP11-650J17.1_ENST00000508959.1_RNA	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	19					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCAACGGCAGTAGTCAGAGGA	0.418000													4	21					0	0	0.000248	0	0
KRT38	8687	broad.mit.edu	37	17	39596834	39596834	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:39596834G>A	ENST00000246646.3	-	1	339	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	114	Coil 1A.|Rod.					intermediate filament	structural molecule activity	p.R114G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TTGGCCAGGCGGTCATTCAGG	0.582000													20	71					0	0	0.008871	0	0
CACNA1A	773	broad.mit.edu	37	19	13423523	13423523	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:13423523C>A	ENST00000360228.5	-	12	1627	c.1628G>T	c.(1627-1629)cGg>cTg	p.R543L	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R544L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	544					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GAAGTAAGGCCGCGTCCCAAG	0.438000													15	41					9.7654e-05	0.000124421	0.007413	1	0
DSG4	147409	broad.mit.edu	37	18	28986078	28986078	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:28986078C>A	ENST00000359747.4	+	12	1704	c.1675C>A	c.(1675-1677)Cca>Aca	p.P559T	DSG4_ENST00000308128.4_Missense_Mutation_p.P559T|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	559					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)			GGTTTTATCTCCAGGATTTTA	0.443000													5	25					0.000602214	0.000718394	0.000602	1	0
C5orf30	90355	broad.mit.edu	37	5	102611912	102611912	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:102611912G>A	ENST00000319933.2	+	3	600	c.292G>A	c.(292-294)Gca>Aca	p.A98T	C5orf30_ENST00000510890.1_Missense_Mutation_p.A98T|C5orf30_ENST00000515669.1_Missense_Mutation_p.A98T	NM_033211.2	NP_149988.1	Q96GV9	CE030_HUMAN	chromosome 5 open reading frame 30	98										NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		ACAGCTAGATGCAGGACTTGC	0.527000													6	24					0	0	0.001168	0	0
RUNX1T1	862	broad.mit.edu	37	8	92999186	92999186	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:92999186G>T	ENST00000523629.1	-	8	1460	c.1006C>A	c.(1006-1008)Cgt>Agt	p.R336S	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R299S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R347S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R309S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R299S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R336S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R299S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R309S	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)	336					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)			TCTTCTTGACGTGTGCCATGC	0.408000													22	46					1.36565e-18	2.75582e-18	0.002780	1	0
DIO1	1733	broad.mit.edu	37	1	54360012	54360012	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:54360012C>A	ENST00000361921.3	+	1	153	c.129C>A	c.(127-129)gcC>gcA	p.A43A	DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Silent_p.A43A|DIO1_ENST00000388876.3_Silent_p.A43A|DIO1_ENST00000322679.6_Silent_p.A43A|DIO1_ENST00000525202.1_Silent_p.A43A|DIO1_ENST00000524406.1_Intron	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	43					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						ACATCCTGGCCATGGGCGAGA	0.522000													25	88					6.32553e-13	1.1909e-12	0.004656	1	0
COL4A6	1288	broad.mit.edu	37	X	107417713	107417713	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:107417713C>A	ENST00000334504.7	-	31	3328	c.3095G>T	c.(3094-3096)gGg>gTg	p.G1032V	COL4A6_ENST00000545689.1_Missense_Mutation_p.G1032V|COL4A6_ENST00000538570.1_Missense_Mutation_p.G1032V|COL4A6_ENST00000372216.4_Missense_Mutation_p.G1033V|COL4A6_ENST00000394872.2_Missense_Mutation_p.G1033V	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1033	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCCAGAGGACCCCTTCAGGCC	0.557000									Alport syndrome with Diffuse Leiomyomatosis				18	33					1.00905e-13	1.94314e-13	0.008871	1	0
LRFN2	57497	broad.mit.edu	37	6	40400436	40400436	+	Silent	SNP	G	G	T	rs139467631	by1000genomes	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:40400436G>T	ENST00000338305.6	-	2	959	c.417C>A	c.(415-417)atC>atA	p.I139I		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	139						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTCATCTGCGATGCCGCCCA	0.592000													10	19					1.58986e-06	2.2995e-06	0.008291	1	0
YBX3	8531	broad.mit.edu	37	12	10870707	10870707	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:10870707C>T	ENST00000228251.4	-	3	540	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	YBX3_ENST00000279550.7_Missense_Mutation_p.E114K	NM_003651.4	NP_003642.3			Y box binding protein 3																		AATACATCTTCTTTGGTGTCA	0.353000													11	26					0	0	0.001368	0	0
MYO1C	4641	broad.mit.edu	37	17	1384168	1384168	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:1384168C>A	ENST00000359786.5	-	6	963	c.639G>T	c.(637-639)gtG>gtT	p.V213V	MYO1C_ENST00000545534.2_Silent_p.V189V|MYO1C_ENST00000438665.2_Silent_p.V194V|MYO1C_ENST00000573198.1_5'UTR|MYO1C_ENST00000575158.1_Silent_p.V178V|MYO1C_ENST00000361007.2_Silent_p.V178V	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	213	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGTGGCCACCCACGGGGGCAC	0.632000													5	61					1.76689e-08	2.83544e-08	0.006214	1	0
HDC	3067	broad.mit.edu	37	15	50534993	50534993	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:50534993G>T	ENST00000267845.3	-	12	1855	c.1453C>A	c.(1453-1455)Cct>Act	p.P485T	HDC_ENST00000543581.1_Missense_Mutation_p.P452T	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	485					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CCAACCCGAGGGCTGGGTTGG	0.557000													6	20					5.9392e-07	8.75935e-07	0.001168	1	0
CLDN1	9076	broad.mit.edu	37	3	190030679	190030679	+	Missense_Mutation	SNP	C	C	T	rs140846629	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:190030679C>T	ENST00000295522.3	-	2	638	c.370G>A	c.(370-372)Gcg>Acg	p.A124T		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	124					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		AGAAATATCGCACCCCCAATG	0.458000													25	94					0	0	0.003330	0	0
MDH1B	130752	broad.mit.edu	37	2	207619827	207619827	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:207619827G>A	ENST00000374412.3	-	5	1091	c.816C>T	c.(814-816)gcC>gcT	p.A272A	MDH1B_ENST00000449792.1_Silent_p.A174A|MDH1B_ENST00000454776.2_Silent_p.A272A|MDH1B_ENST00000392214.2_Intron	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	272					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CAATGCGTGGGGCATATCTCA	0.478000													15	48					0	0	0.004990	0	0
FGD4	121512	broad.mit.edu	37	12	32735171	32735171	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:32735171G>C	ENST00000427716.2	+	4	794	c.370G>C	c.(370-372)Gat>Cat	p.D124H	FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000472289.1_Missense_Mutation_p.D124H|FGD4_ENST00000525053.1_Missense_Mutation_p.D236H|FGD4_ENST00000546442.1_Missense_Mutation_p.D31H|FGD4_ENST00000531134.1_Missense_Mutation_p.D209H|FGD4_ENST00000534526.2_Missense_Mutation_p.D261H	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	124	Actin filament-binding (By similarity).				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					ACCCTTGCTTGATACGCACAT	0.468000													5	65					0	0	0.000602	0	0
OR2L2	26246	broad.mit.edu	37	1	248202461	248202461	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:248202461G>T	ENST00000366479.2	+	1	988	c.892G>T	c.(892-894)Ggg>Tgg	p.G298W	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGAGGTGATGGGGGCCCTGAC	0.458000													12	69					5.16669e-11	9.21256e-11	0.000978	1	0
KRT10	3858	broad.mit.edu	37	17	38978715	38978715	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:38978715G>T	ENST00000269576.5	-	1	132	c.123C>A	c.(121-123)ggC>ggA	p.G41G	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	41	Gly-rich.|Head.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				CACCAAGGGAGCCTTTGCTGC	0.582000													9	30					0.000274275	0.000337338	0.004482	1	0
SNTG1	54212	broad.mit.edu	37	8	51449274	51449274	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:51449274G>T	ENST00000522124.1	+	11	1247	c.586G>T	c.(586-588)Ggc>Tgc	p.G196C	SNTG1_ENST00000518864.1_Missense_Mutation_p.G196C|SNTG1_ENST00000517473.1_Missense_Mutation_p.G196C|SNTG1_ENST00000276467.5_Missense_Mutation_p.G196C	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	196					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GACGTCTCCAGGCTTGAGGTG	0.473000													12	112					3.07112e-06	4.36695e-06	0.000978	1	0
CPE	1363	broad.mit.edu	37	4	166405732	166405732	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:166405732G>T	ENST00000402744.4	+	5	1229	c.949G>T	c.(949-951)Ggt>Tgt	p.G317C		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	317					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CACCAACGGTGGTGCTTGGTA	0.463000													35	179					1.36615e-20	2.78182e-20	0.002836	1	0
MYOD1	4654	broad.mit.edu	37	11	17741497	17741497	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:17741497C>T	ENST00000250003.3	+	1	383	c.168C>T	c.(166-168)ctC>ctT	p.L56L		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	56					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						TGGGCGCGCTCCTGAAACCCG	0.687000													5	17					0	0	0.000602	0	0
VN1R4	317703	broad.mit.edu	37	19	53770573	53770573	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:53770573A>T	ENST00000311170.4	-	1	399	c.346T>A	c.(346-348)Tgg>Agg	p.W116R		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	116					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		AGTTTTGCCCACCTGGATTTC	0.493000										HNSCC(26;0.072)			4	34					0	0	0.000602	0	0
EFCAB3	146779	broad.mit.edu	37	17	60460396	60460396	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:60460396C>G	ENST00000450662.2	+	4	283	c.212C>G	c.(211-213)cCc>cGc	p.P71R	EFCAB3_ENST00000305286.3_Missense_Mutation_p.P19R	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	19	EF-hand 1.						calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			ACAAAAGTACCCATCTCCCAC	0.323000													7	25					0	0	0.001984	0	0
OR5A1	219982	broad.mit.edu	37	11	59210776	59210776	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:59210776C>A	ENST00000302030.2	+	1	160	c.135C>A	c.(133-135)aaC>aaA	p.N45K		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TGGCCTGGAACCTGGCCCTCA	0.498000													4	74					0.00024832	0.000308796	0.000248	1	0
CACNA1A	773	broad.mit.edu	37	19	13423524	13423524	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:13423524G>A	ENST00000360228.5	-	12	1626	c.1627C>T	c.(1627-1629)Cgg>Tgg	p.R543W	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R544W	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	544					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AAGTAAGGCCGCGTCCCAAGC	0.438000													15	40					0	0	0.006122	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51629378	51629378	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:51629378C>A	ENST00000440804.3	+	3	808	c.741C>A	c.(739-741)gaC>gaA	p.D247E	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.D247E	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	247	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TCCAAGGAGACGGCACAGGTA	0.597000													9	36					1.33987e-11	2.44074e-11	0.008291	1	0
STC2	8614	broad.mit.edu	37	5	172745171	172745171	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:172745171C>T	ENST00000265087.4	-	4	1897	c.588G>A	c.(586-588)caG>caA	p.Q196Q		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	196					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTGCTCACACTGAACCTGCA	0.612000													11	13					0	0	0.000978	0	0
OR5B21	219968	broad.mit.edu	37	11	58275275	58275275	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:58275275A>T	ENST00000360374.2	-	1	303	c.304T>A	c.(304-306)Ttt>Att	p.F102I		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F102delF(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AACCCCACAAAGAAGAAGAAC	0.547000													7	13					0	0	0.001984	0	0
ARMC5	79798	broad.mit.edu	37	16	31476359	31476359	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:31476359A>T	ENST00000457010.2	+	4	2716	c.2015A>T	c.(2014-2016)cAg>cTg	p.Q672L	ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000538189.1_Intron|ARMC5_ENST00000563544.1_Intron|ARMC5_ENST00000408912.3_Intron	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	480							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGTGGGGAGCAGGGCGTTCCA	0.642000													10	34					0	0	0.008291	0	0
DCDC1	341019	broad.mit.edu	37	11	30914539	30914539	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:30914539G>A	ENST00000597505.1	-	34	4898	c.4899C>T	c.(4897-4899)caC>caT	p.H1633H	DCDC1_ENST00000406071.2_Silent_p.H371H			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTTCAGAAAGGTGTGCCTGTC	0.373000													19	45					0	0	0.006122	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33614446	33614446	+	Silent	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:33614446A>G	ENST00000504830.1	-	16	2759	c.2424T>C	c.(2422-2424)taT>taC	p.Y808Y	ADAMTS12_ENST00000352040.3_Silent_p.Y723Y|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	808	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						TTGTGTACTCATACTTGATGC	0.468000										HNSCC(64;0.19)			4	46					0	0	0.000248	0	0
MID2	11043	broad.mit.edu	37	X	107170202	107170202	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:107170202G>T	ENST00000262843.6	+	10	2655	c.2107G>T	c.(2107-2109)Ggc>Tgc	p.G703C	MID2_ENST00000443968.2_Missense_Mutation_p.G673C|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	703	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GATCCTGTCTGGCTTGCCTGC	0.443000													19	42					3.99206e-14	7.73174e-14	0.007413	1	0
GABRQ	55879	broad.mit.edu	37	X	151821180	151821180	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:151821180C>A	ENST00000370306.2	+	9	1355	c.1335C>A	c.(1333-1335)gcC>gcA	p.A445A		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	445						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCCTGGCCACTGGAGAAA	0.592000													34	73					3.90053e-15	7.66459e-15	0.002445	1	0
OR6K3	391114	broad.mit.edu	37	1	158687441	158687441	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:158687441G>A	ENST00000368146.1	-	1	512	c.513C>T	c.(511-513)atC>atT	p.I171I	OR6K3_ENST00000368145.1_Silent_p.I155I			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CGGGAAGCAGGATAAGGAAAC	0.522000													11	68					0	0	0.000978	0	0
NETO1	81832	broad.mit.edu	37	18	70461640	70461640	+	Splice_Site	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:70461640C>A	ENST00000327305.6	-	5	1127		c.e5-1		NETO1_ENST00000583169.1_Splice_Site|NETO1_ENST00000299430.2_Splice_Site	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1						memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AAGTCAGGATCTTAAAAATTG	0.294000													12	53					5.50884e-06	7.76769e-06	0.001368	1	0
APOBR	55911	broad.mit.edu	37	16	28509075	28509075	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:28509075G>A	ENST00000564831.1	+	2	2746	c.2713G>A	c.(2713-2715)Ggg>Agg	p.G905R	APOBR_ENST00000431282.1_Missense_Mutation_p.G896R|APOBR_ENST00000328423.5_Missense_Mutation_p.G896R	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	896	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGGGCGGTGTGGGGACTACCA	0.617000													5	7					0	0	0.001168	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872426	51872426	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:51872426C>A	ENST00000371497.5	+	2	3316	c.2429C>A	c.(2428-2430)cCa>cAa	p.P810Q	TSHZ2_ENST00000329613.6_Missense_Mutation_p.P807Q|TSHZ2_ENST00000603338.2_Missense_Mutation_p.P807Q	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	810					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACCCCAAAGCCAGCCTCCTCC	0.542000													6	62					0.00116845	0.00136487	0.001168	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33589742	33589742	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:33589742G>A	ENST00000321505.4	+	8	3488	c.3308G>A	c.(3307-3309)cGg>cAg	p.R1103Q	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1109Q|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.R1109Q					KIAA1549-like																		CGGTTTAAACGGGCCACCACC	0.587000													3	18					0	0	0.004672	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134526329	134526329	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:134526329C>A	ENST00000372195.1	-	2	312	c.69G>T	c.(67-69)caG>caT	p.Q23H	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.Q24H|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.Q6H			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	6					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GATGAGAACGCTGAGAGTCTG	0.463000													15	34					0.000219431	0.000274391	0.002450	1	0
CA6	765	broad.mit.edu	37	1	9034716	9034716	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:9034716C>T	ENST00000377443.2	+	8	884	c.880C>T	c.(880-882)Cat>Tat	p.H294Y	CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Missense_Mutation_p.H234Y	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	294					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTTACCTACATAAGATTGA	0.378000													4	20					0	0	0.000248	0	0
ABCG8	64241	broad.mit.edu	37	2	44100965	44100965	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:44100965C>A	ENST00000272286.2	+	9	1341	c.1251C>A	c.(1249-1251)ctC>ctA	p.L417L		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	417	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGCCCACCCTCCTCATCCATG	0.557000													14	133					4.3838e-07	6.59527e-07	0.001855	1	0
HGFAC	3083	broad.mit.edu	37	4	3444599	3444599	+	Silent	SNP	G	G	A	rs140087184	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:3444599G>A	ENST00000382774.3	+	2	373	c.258G>A	c.(256-258)ccG>ccA	p.P86P	HGFAC_ENST00000511533.1_Silent_p.P86P	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	86					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCCGCCCCCGCCCAGGGCAG	0.667000													12	22					0	0	0.001855	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057599	152057599	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:152057599G>T	ENST00000368806.1	-	3	2623	c.2559C>A	c.(2557-2559)agC>agA	p.S853R		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	853							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTGATGCTTGGCTGTAGTTGA	0.498000													18	80					6.49762e-13	1.21989e-12	0.006122	1	0
SRGAP3	9901	broad.mit.edu	37	3	9102045	9102045	+	Splice_Site	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:9102045T>A	ENST00000383836.3	-	6	1100		c.e6-2		SRGAP3_ENST00000433332.3_Splice_Site|SRGAP3_ENST00000360413.3_Splice_Site	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GGCCTGCCTCTGGAAGAAGAA	0.433000			T	RAF1	pilocytic astrocytoma								12	47					0	0	0.001368	0	0
RYR2	6262	broad.mit.edu	37	1	237995900	237995900	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:237995900C>A	ENST00000366574.2	+	105	15174	c.14857C>A	c.(14857-14859)Cca>Aca	p.P4953T	RYR2_ENST00000360064.6_Missense_Mutation_p.P4959T|RYR2_ENST00000542537.1_Missense_Mutation_p.P4937T|RYR2_ENST00000462585.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4953					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAATTTTTCCCAGCAGGGGA	0.418000													7	27					0.00198382	0.00228173	0.001984	1	0
NLRP14	338323	broad.mit.edu	37	11	7079531	7079531	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:7079531C>A	ENST00000299481.4	+	8	2829	c.2483C>A	c.(2482-2484)aCa>aAa	p.T828K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	828					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGTGGTCTCACAGAGGCTGGC	0.453000													17	34					1.01871e-10	1.80213e-10	0.008871	1	0
POLQ	10721	broad.mit.edu	37	3	121207919	121207919	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:121207919T>A	ENST00000264233.5	-	16	3987	c.3859A>T	c.(3859-3861)Aat>Tat	p.N1287Y		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1287					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTAGAAATATTTAGAAAATTC	0.348000								DNA polymerases (catalytic subunits)					21	56					0	0	0.001882	0	0
TTN	7273	broad.mit.edu	37	2	179464146	179464146	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:179464146T>G	ENST00000589042.1	-	290	56598	c.56374A>C	c.(56374-56376)Ata>Cta	p.I18792L	TTN_ENST00000342175.6_Missense_Mutation_p.I9919L|TTN_ENST00000342992.6_Missense_Mutation_p.I16224L|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I9852L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I9727L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I17151L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17151	Fibronectin type-III 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAAATTTTATGGGTCCCACT	0.363000													12	32					0	0	0.000978	0	0
WNT7A	7476	broad.mit.edu	37	3	13916538	13916538	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:13916538C>A	ENST00000285018.4	-	2	508	c.204G>T	c.(202-204)atG>atT	p.M68I	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	68					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CGTCCAGGCCCATTTGTGAGC	0.592000													9	22					0.000274275	0.000337338	0.004482	1	0
OR10G8	219869	broad.mit.edu	37	11	123900990	123900990	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:123900990G>T	ENST00000431524.1	+	1	694	c.661G>T	c.(661-663)Gtc>Ttc	p.V221F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V221I(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		TGTGTCCATCGTCTGTTCCAT	0.542000													19	65					2.94398e-08	4.67982e-08	0.007413	1	0
BOLL	66037	broad.mit.edu	37	2	198643703	198643703	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:198643703T>C	ENST00000321801.7	-	3	823	c.253A>G	c.(253-255)Aaa>Gaa	p.K85E	BOLL_ENST00000392296.4_Missense_Mutation_p.K73E|BOLL_ENST00000433157.1_Missense_Mutation_p.K73E|BOLL_ENST00000430004.1_Missense_Mutation_p.K73E|BOLL_ENST00000282278.8_Silent_p.P7P	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	73	RRM.				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						ACTAACCCTTTGGATACTCCA	0.353000													6	26					0	0	0.001984	0	0
PEG3	5178	broad.mit.edu	37	19	57328461	57328461	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:57328461A>T	ENST00000326441.9	-	10	1712	c.1349T>A	c.(1348-1350)aTg>aAg	p.M450K	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.M326K|PEG3_ENST00000593695.1_Missense_Mutation_p.M324K|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.M450K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	450					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TACATATGGCATTGCCCCAAA	0.483000													19	95					0	0	0.007413	0	0
TENM4	26011	broad.mit.edu	37	11	78369359	78369359	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:78369359T>A	ENST00000278550.7	-	34	8516	c.8054A>T	c.(8053-8055)gAg>gTg	p.E2685V		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TGCCTTCTCCTCATCCAACGT	0.622000													6	16					0	0	0.001168	0	0
MAP2K5	5607	broad.mit.edu	37	15	67879196	67879196	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:67879196G>T	ENST00000178640.5	+	6	1003	c.376G>T	c.(376-378)Gcc>Tcc	p.A126S	MAP2K5_ENST00000354498.5_Missense_Mutation_p.A90S|MAP2K5_ENST00000395476.2_Missense_Mutation_p.A126S|MAP2K5_ENST00000560591.1_3'UTR	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	126	Interaction with MAPK7 (By similarity).				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						GAATACTCGGGCCGGACCCTC	0.428000													24	73					1.33986e-20	2.73657e-20	0.004656	1	0
RDH12	145226	broad.mit.edu	37	14	68191238	68191238	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:68191238C>A	ENST00000551171.1	+	4	441	c.117C>A	c.(115-117)ggC>ggA	p.G39G	RDH12_ENST00000267502.3_Silent_p.G39G|RDH12_ENST00000539142.1_Silent_p.G39G	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	39					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	AGCTTCCTGGCAAGGTAGTGG	0.537000													13	65					0.000219431	0.000274391	0.002450	1	0
NARG2	79664	broad.mit.edu	37	15	60745778	60745778	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:60745778G>A	ENST00000561114.1	-	9	1311	c.1149C>T	c.(1147-1149)ccC>ccT	p.P383P	NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron	NM_001276385.1	NP_001263314.1	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	0						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ATTCCCCTTAGGGGAAAAAAA	0.338000													4	20					0	0	0.000248	0	0
PTPRS	5802	broad.mit.edu	37	19	5265155	5265155	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:5265155C>G	ENST00000372412.4	-	5	665	c.432G>C	c.(430-432)aaG>aaC	p.K144N	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.K144N|PTPRS_ENST00000588012.1_Missense_Mutation_p.K144N|PTPRS_ENST00000353284.2_Missense_Mutation_p.K144N|PTPRS_ENST00000262963.6_Missense_Mutation_p.K144N|PTPRS_ENST00000348075.2_Missense_Mutation_p.K144N|PTPRS_ENST00000357368.4_Missense_Mutation_p.K144N|PTPRS_ENST00000587303.1_Missense_Mutation_p.K144N			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	144	Ig-like C2-type 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCTCCACCACCTTCAACTGTG	0.597000													5	38					0	0	0.001984	0	0
COL19A1	1310	broad.mit.edu	37	6	70900066	70900066	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:70900066G>A	ENST00000322773.4	+	48	3177	c.3075G>A	c.(3073-3075)gaG>gaA	p.E1025E	COL19A1_ENST00000393344.1_Silent_p.E647E	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1025					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.E1025D(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTAATCAAGAGGTCCTAAGGA	0.338000													4	12					0	0	0.000602	0	0
MAP3K15	389840	broad.mit.edu	37	X	19387328	19387328	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:19387328G>C	ENST00000338883.4	-	25	3409	c.3410C>G	c.(3409-3411)gCc>gGc	p.A1137G	MAP3K15_ENST00000359173.3_Missense_Mutation_p.A572G|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.A969G	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1137							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTCAAAGTGGGCTCGGAGCTC	0.597000													11	43					0	0	0.001855	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724382	38724382	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:38724382G>A	ENST00000342213.2	-	1	1192	c.846C>T	c.(844-846)gaC>gaT	p.D282D		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	282	EGF-like.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AAGAGCGGCCGTCCTTCCCCA	0.677000													6	66					0	0	0.001168	0	0
LILRA1	11024	broad.mit.edu	37	19	55105928	55105928	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:55105928C>A	ENST00000453777.1	+	3	227	c.57C>A	c.(55-57)acC>acA	p.T19T	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Silent_p.T19T|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	19					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCCCCCGGACCCACGTGCAGG	0.657000													25	56					9.80776e-20	1.99109e-19	0.006320	1	0
ANK2	287	broad.mit.edu	37	4	114254230	114254230	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:114254230C>A	ENST00000357077.4	+	29	3298	c.3245C>A	c.(3244-3246)cCt>cAt	p.P1082H	ANK2_ENST00000509550.1_Missense_Mutation_p.P258H|ANK2_ENST00000264366.6_Missense_Mutation_p.P1049H|ANK2_ENST00000506722.1_Missense_Mutation_p.P1073H|ANK2_ENST00000394537.3_Missense_Mutation_p.P1082H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1049	Interaction with SPTBN1.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTGGAGATCCCTCACTTTGCG	0.507000													21	46					1.96292e-10	3.41863e-10	0.001523	1	0
DNAH12	201625	broad.mit.edu	37	3	57496642	57496642	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:57496642C>A	ENST00000351747.2	-	5	524	c.344G>T	c.(343-345)tGg>tTg	p.W115L	DNAH12_ENST00000389536.4_Missense_Mutation_p.W115L|DNAH12_ENST00000311202.6_Missense_Mutation_p.W115L	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	115	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						GTGATCCAGCCATTCCTGCTG	0.353000													7	32					7.48243e-07	1.09873e-06	0.006214	1	0
CLSTN3	9746	broad.mit.edu	37	12	7286289	7286289	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:7286289A>G	ENST00000537408.1	+	2	882	c.344A>G	c.(343-345)aAg>aGg	p.K115R	CLSTN3_ENST00000266546.6_Missense_Mutation_p.K103R			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	103	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GAGGCCCAGAAGGAACACACC	0.622000													16	50					0	0	0.004990	0	0
CROT	54677	broad.mit.edu	37	7	86990876	86990876	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:86990876G>T	ENST00000331536.3	+	5	596	c.411G>T	c.(409-411)caG>caT	p.Q137H	CROT_ENST00000442291.1_Missense_Mutation_p.Q137H|CROT_ENST00000419147.2_Missense_Mutation_p.Q165H	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	137					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	ACTACTGGCAGCTATTAAGAA	0.408000													4	31					0.000602214	0.000718394	0.000602	1	0
OR2A2	442361	broad.mit.edu	37	7	143806830	143806830	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:143806830C>G	ENST00000408979.2	+	1	224	c.155C>G	c.(154-156)tCt>tGt	p.S52C		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	52					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)					TGCCTGGACTCTAAGCTTCAC	0.493000													47	123					0	0	0.003610	0	0
WDR91	29062	broad.mit.edu	37	7	134881057	134881057	+	Silent	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:134881057T>A	ENST00000354475.4	-	8	1114	c.1083A>T	c.(1081-1083)ccA>ccT	p.P361P	WDR91_ENST00000423565.1_Silent_p.P326P|WDR91_ENST00000344400.5_Silent_p.P361P|WDR91_ENST00000485942.1_5'UTR	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	361										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GCTCAGCCTCTGGGCCACTGG	0.657000													16	36					0	0	0.007413	0	0
DSCAML1	57453	broad.mit.edu	37	11	117389381	117389381	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:117389381G>C	ENST00000321322.6	-	7	1491	c.1490C>G	c.(1489-1491)cCc>cGc	p.P497R	DSCAML1_ENST00000527706.1_Missense_Mutation_p.P227R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	437	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGTGACCGTGGGGGGCGGGGC	0.667000													6	35					0	0	0.001168	0	0
GBA3	57733	broad.mit.edu	37	4	22749528	22749528	+	RNA	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:22749528G>C	ENST00000511446.1	+	0	899				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATGATCAAAGGCACTGCTGAT	0.408000													3	15					0	0	0.000248	0	0
TMEM119	338773	broad.mit.edu	37	12	108985845	108985845	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:108985845G>T	ENST00000392806.3	-	2	483	c.315C>A	c.(313-315)gcC>gcA	p.A105A		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	105						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						TCAGCAGAAAGGCCAGGGAGC	0.587000													9	40					1.12685e-05	1.56921e-05	0.004482	1	0
CHRNA4	1137	broad.mit.edu	37	20	61990903	61990903	+	Missense_Mutation	SNP	G	G	T	rs113080067	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:61990903G>T	ENST00000370263.4	-	2	446	c.225C>A	c.(223-225)gaC>gaA	p.D75E	CHRNA4_ENST00000463705.1_Intron	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	75					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CACCTACCACGTCAATGAGCT	0.612000													8	40					2.17888e-05	2.9728e-05	0.006214	1	0
RASAL2	9462	broad.mit.edu	37	1	178427213	178427213	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:178427213T>C	ENST00000448150.3	+	14	3571	c.2753T>C	c.(2752-2754)cTc>cCc	p.L918P	RASAL2_ENST00000367649.3_Missense_Mutation_p.L929P|RASAL2_ENST00000462775.1_Missense_Mutation_p.L788P	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	788					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						GTCTATCACCTCAATAACCCA	0.522000													3	69					0	0	0.004672	0	0
NPTX2	4885	broad.mit.edu	37	7	98256507	98256507	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:98256507G>T	ENST00000265634.3	+	4	1084	c.919G>T	c.(919-921)Ggc>Tgc	p.G307C		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	307	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TGTCAGTGACGGCAAGTGGCA	0.637000													13	25					7.93312e-07	1.15985e-06	0.002450	1	0
PCDH18	54510	broad.mit.edu	37	4	138442469	138442469	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:138442469G>A	ENST00000344876.4	-	4	3508	c.3122C>T	c.(3121-3123)cCc>cTc	p.P1041L	PCDH18_ENST00000511115.1_Missense_Mutation_p.P221L|PCDH18_ENST00000412923.2_Missense_Mutation_p.P1040L|PCDH18_ENST00000507846.1_Missense_Mutation_p.P820L|PCDH18_ENST00000510305.1_Missense_Mutation_p.P252L	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1041	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGCTGGCAAGGGTCCCTTCCT	0.577000													5	39					0	0	0.000602	0	0
CACNA1E	777	broad.mit.edu	37	1	181620521	181620521	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:181620521C>T	ENST00000526775.1	+	7	1164	c.999C>T	c.(997-999)ccC>ccT	p.P333P	CACNA1E_ENST00000358338.5_Silent_p.P284P|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Silent_p.P284P|CACNA1E_ENST00000360108.3_Silent_p.P333P|CACNA1E_ENST00000367573.2_Silent_p.P333P|CACNA1E_ENST00000367570.1_Silent_p.P333P	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	333					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACTTCATCCCCCTCATCATCA	0.433000													10	66					0	0	0.008291	0	0
FAM209B	388799	broad.mit.edu	37	20	55111388	55111388	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:55111388T>A	ENST00000371325.1	+	2	506	c.410T>A	c.(409-411)aTg>aAg	p.M137K		NM_001013646.2	NP_001013668.2	Q5JX69	CT107_HUMAN	family with sequence similarity 209, member B	137						integral to membrane											AAAGGTGCCATGGCAACAGGC	0.423000													10	40					0	0	0.008291	0	0
MUC16	94025	broad.mit.edu	37	19	9061767	9061767	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:9061767G>C	ENST00000397910.4	-	3	25882	c.25679C>G	c.(25678-25680)tCt>tGt	p.S8560C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8562	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGAGACAGAGCTGGCTTC	0.502000													8	25					0	0	0.003080	0	0
THOC2	57187	broad.mit.edu	37	X	122778518	122778518	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:122778518C>A	ENST00000245838.8	-	15	1600	c.1569G>T	c.(1567-1569)ctG>ctT	p.L523L	THOC2_ENST00000491737.1_Silent_p.L408L|THOC2_ENST00000355725.4_Silent_p.L523L	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	523					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ACTGGCCATACAGACGATATC	0.289000													3	13					6.4e-05	8.32925e-05	0.004672	1	0
MS4A5	64232	broad.mit.edu	37	11	60198297	60198297	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:60198297C>A	ENST00000300190.2	+	2	268	c.182C>A	c.(181-183)aCc>aAc	p.T61N	MS4A5_ENST00000534071.1_Intron	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	61						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						GGAATTATGACCTTTTCTTTT	0.363000													28	95					1.26454e-06	1.84481e-06	0.005443	1	0
RP1	6101	broad.mit.edu	37	8	55540348	55540348	+	Silent	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:55540348C>G	ENST00000220676.1	+	4	4054	c.3906C>G	c.(3904-3906)gtC>gtG	p.V1302V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1302					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)			TAGGAGAGGTCTGTTCACTTA	0.433000													13	83					0	0	0.001368	0	0
ATP10D	57205	broad.mit.edu	37	4	47514733	47514733	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:47514733C>T	ENST00000273859.3	+	2	445	c.176C>T	c.(175-177)cCc>cTc	p.P59L	ATP10D_ENST00000504445.1_Missense_Mutation_p.P59L	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	59					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CACATCCAGCCCTTCAAGGAT	0.473000													11	28					0	0	0.001368	0	0
RYR2	6262	broad.mit.edu	37	1	237777909	237777909	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:237777909C>A	ENST00000366574.2	+	37	5798	c.5481C>A	c.(5479-5481)acC>acA	p.T1827T	RYR2_ENST00000360064.6_Silent_p.T1825T|RYR2_ENST00000542537.1_Silent_p.T1811T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1827	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTTCTATACCCTGCTGATCA	0.493000													19	104					2.4624e-09	4.03809e-09	0.008871	1	0
SCML4	256380	broad.mit.edu	37	6	108066261	108066261	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:108066261G>T	ENST00000369022.2	-	4	609	c.400C>A	c.(400-402)Ctg>Atg	p.L134M	SCML4_ENST00000369020.3_Missense_Mutation_p.L192M|SCML4_ENST00000369021.3_Missense_Mutation_p.L163M			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		CTTCGGCACAGCTTGGCGAGG	0.592000													3	13					0.004672	0.00521346	0.004672	1	0
HHIPL1	84439	broad.mit.edu	37	14	100118736	100118736	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:100118736G>C	ENST00000330710.5	+	2	529	c.431G>C	c.(430-432)aGg>aCg	p.R144T	HHIPL1_ENST00000357223.2_Missense_Mutation_p.R144T	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	144					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				AACCTTGCCAGGTTCTGCCGC	0.587000													10	49					0	0	0.006214	0	0
SERPINI1	5274	broad.mit.edu	37	3	167506983	167506983	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:167506983G>T	ENST00000295777.5	+	2	498	c.67G>T	c.(67-69)Gag>Tag	p.E23*	SERPINI1_ENST00000446050.2_Nonsense_Mutation_p.E23*	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	23					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						CACTTTCCCTGAGGAAGCCAT	0.413000													12	39					1.05317e-09	1.77904e-09	0.002450	1	0
MYH7	4625	broad.mit.edu	37	14	23886893	23886893	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:23886893T>A	ENST00000355349.3	-	31	4334	c.4172A>T	c.(4171-4173)aAg>aTg	p.K1391M		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1391					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGCCAGCTTCTTCCTGCCCAG	0.582000													5	34					0	0	0.000602	0	0
SENP5	205564	broad.mit.edu	37	3	196612328	196612328	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:196612328G>T	ENST00000323460.5	+	2	525	c.276G>T	c.(274-276)ttG>ttT	p.L92F	SENP5_ENST00000445299.2_Missense_Mutation_p.L92F|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	92					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TTAGTACTTTGTCCTCTAAAG	0.408000													11	39					2.68362e-12	4.95551e-12	0.001368	1	0
ZAN	7455	broad.mit.edu	37	7	100348468	100348468	+	RNA	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:100348468C>A	ENST00000542585.1	+	0	1618				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_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)			AGCGCCCTTACTGGCAGAACA	0.627000													3	19					0.000602214	0.000718394	0.000602	1	0
SIGLEC9	27180	broad.mit.edu	37	19	51628303	51628303	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:51628303G>A	ENST00000440804.3	+	1	139	c.72G>A	c.(70-72)acG>acA	p.T24T	SIGLEC9_ENST00000250360.3_Silent_p.T24T	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	24	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AACTGCTGACGATGCAGAGTT	0.617000													8	27					0	0	0.003080	0	0
SLC4A10	57282	broad.mit.edu	37	2	162735744	162735744	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:162735744G>T	ENST00000375514.5	+	9	1282	c.995G>T	c.(994-996)aGg>aTg	p.R332M	SLC4A10_ENST00000446997.1_Missense_Mutation_p.R351M|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000272716.5_Missense_Mutation_p.R321M|SLC4A10_ENST00000421911.1_Missense_Mutation_p.R351M|SLC4A10_ENST00000415876.2_Missense_Mutation_p.R321M|SLC4A10_ENST00000535165.1_Missense_Mutation_p.R351M	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	351					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						GCGTTTGTCAGGTTGTCTCCA	0.413000													15	66					1.37285e-15	2.72148e-15	0.004007	1	0
CDHR2	54825	broad.mit.edu	37	5	176017663	176017663	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:176017663A>T	ENST00000510636.1	+	28	3788	c.3514A>T	c.(3514-3516)Atg>Ttg	p.M1172L	CDHR2_ENST00000261944.5_Missense_Mutation_p.M1172L|CDHR2_ENST00000506348.1_Missense_Mutation_p.M1172L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1172					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GATCATGACCATGGCCTTCGT	0.597000													4	45					0	0	0.000602	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3682161	3682161	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:3682161C>A	ENST00000344754.4	-	6	1355	c.1356G>T	c.(1354-1356)ctG>ctT	p.L452L	SIGLEC1_ENST00000202578.4_Silent_p.L452L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	452	Ig-like C2-type 4.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGGTGGAGGCCAGGATATGAC	0.617000													10	38					0.000151284	0.000191305	0.001855	1	0
DLC1	10395	broad.mit.edu	37	8	13072267	13072267	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:13072267C>G	ENST00000316609.5	-	6	1653	c.1365G>C	c.(1363-1365)aaG>aaC	p.K455N	DLC1_ENST00000512044.2_Intron|DLC1_ENST00000276297.4_Intron			Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	0	SAM.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CCACTTCCAACTTTACTGATT	0.443000													15	35					0	0	0.002450	0	0
TSHZ1	10194	broad.mit.edu	37	18	73000452	73000452	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:73000452G>A	ENST00000322038.5	+	2	3539	c.2955G>A	c.(2953-2955)gaG>gaA	p.E985E	TSHZ1_ENST00000580243.1_Silent_p.E1030E	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	1030						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGGCCACCGAGGAAGACTTGG	0.517000													11	48					0	0	0.000978	0	0
FREM2	341640	broad.mit.edu	37	13	39265079	39265079	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:39265079G>A	ENST00000280481.7	+	1	3814	c.3598G>A	c.(3598-3600)Gtg>Atg	p.V1200M		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1200					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)		AGAATTTATGGTGATGGAAGG	0.408000													17	95					0	0	0.004990	0	0
MAP3K19	80122	broad.mit.edu	37	2	135779284	135779284	+	Splice_Site	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:135779284C>A	ENST00000375845.3	-	2	169		c.e2+1		MAP3K19_ENST00000375844.3_Splice_Site|MAP3K19_ENST00000315513.3_Splice_Site|MAP3K19_ENST00000392915.1_Splice_Site|MAP3K19_ENST00000392917.3_Splice_Site|MAP3K19_ENST00000358371.4_Splice_Site|MAP3K19_ENST00000392918.3_Splice_Site	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		GAGGCTCTTACCTCACTTCTG	0.348000													8	20					0.00307968	0.00351219	0.003080	1	0
DMRT3	58524	broad.mit.edu	37	9	990229	990229	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:990229G>C	ENST00000190165.2	+	2	681	c.643G>C	c.(643-645)Gag>Cag	p.E215Q		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	215					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.E78*(1)|p.E215*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGGCAACCCCGAGAGCCGCCC	0.587000													10	32					0	0	0.006214	0	0
C11orf16	56673	broad.mit.edu	37	11	8951044	8951044	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:8951044G>T	ENST00000326053.5	-	3	310	c.204C>A	c.(202-204)gaC>gaA	p.D68E	C11orf16_ENST00000528998.1_Intron|C11orf16_ENST00000525780.1_Missense_Mutation_p.D68E	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	68										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GCCATGCTGGGTCGGCAACGT	0.532000													5	19					1.024e-07	1.60506e-07	0.000602	1	0
SVEP1	79987	broad.mit.edu	37	9	113169798	113169798	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:113169798G>T	ENST00000401783.2	-	38	8418	c.8082C>A	c.(8080-8082)aaC>aaA	p.N2694K	SVEP1_ENST00000297826.5_Missense_Mutation_p.N620K|SVEP1_ENST00000374469.1_Missense_Mutation_p.N2671K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2694	Sushi 21.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCAGCACAGGGTTCCCCAGAA	0.443000													7	114					0.00198382	0.00228173	0.001984	1	0
GLCCI1	113263	broad.mit.edu	37	7	8099853	8099853	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:8099853A>G	ENST00000223145.5	+	5	1498	c.941A>G	c.(940-942)aAt>aGt	p.N314S	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	314										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		ATTAAAGAAAATAATGGGAAG	0.353000													13	46					0	0	0.003163	0	0
SUGT1	10910	broad.mit.edu	37	13	53254252	53254252	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:53254252G>T	ENST00000535397.1	+	13	1067	c.694G>T	c.(694-696)Ggt>Tgt	p.G232C	SUGT1_ENST00000310528.7_Missense_Mutation_p.G288C|SUGT1_ENST00000343788.6_Missense_Mutation_p.G320C			Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	320	CS.				mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		CTATTCAGATGGTTCTGATGA	0.318000													12	91					4.36969e-10	7.49407e-10	0.001855	1	0
OR5D18	219438	broad.mit.edu	37	11	55587842	55587842	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:55587842T>A	ENST00000333976.4	+	1	757	c.737T>A	c.(736-738)cTg>cAg	p.L246Q		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GCCTCCCACCTGACTGCCATC	0.512000													5	55					0	0	0.001168	0	0
MED12L	116931	broad.mit.edu	37	3	150876565	150876565	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:150876565C>A	ENST00000474524.1	+	6	854	c.816C>A	c.(814-816)ctC>ctA	p.L272L	MED12L_ENST00000422248.2_Silent_p.L272L|MED12L_ENST00000273432.4_Silent_p.L272L|MED12L_ENST00000309237.4_Silent_p.L272L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	272					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCTTAAACTCTTGCTACCAC	0.383000													8	15					0.00448238	0.005069	0.004482	1	0
SHOX2	6474	broad.mit.edu	37	3	157816033	157816033	+	Missense_Mutation	SNP	G	G	T	rs145675724		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:157816033G>T	ENST00000490689.2	-	5	1889	c.356C>A	c.(355-357)gCg>gAg	p.A119E	SHOX2_ENST00000483851.2_Missense_Mutation_p.A248E|SHOX2_ENST00000441443.2_Missense_Mutation_p.A119E|SHOX2_ENST00000425436.3_Missense_Mutation_p.A260E|SHOX2_ENST00000389589.4_Missense_Mutation_p.A284E			O60902	SHOX2_HUMAN	short stature homeobox 2	260					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GTGGTGGTGCGCGTGCGCCAC	0.637000													14	45					9.31168e-06	1.3048e-05	0.001855	1	0
OR10A2	341276	broad.mit.edu	37	11	6891597	6891597	+	Silent	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:6891597C>G	ENST00000307322.4	+	1	674	c.612C>G	c.(610-612)tcC>tcG	p.S204S		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCTTGTGTTCCTATACTCACA	0.483000													24	155					0	0	0.003954	0	0
A2ML1	144568	broad.mit.edu	37	12	9004398	9004398	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:9004398G>A	ENST00000299698.7	+	19	2433	c.2253G>A	c.(2251-2253)gcG>gcA	p.A751A	A2ML1_ENST00000539547.1_Silent_p.A260A	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	595						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GGAAGGAGGCGGTCCACGTCA	0.527000													6	28					0	0	0.001168	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75376737	75376737	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:75376737A>G	ENST00000555647.1	-	8	1066	c.779T>C	c.(778-780)cTg>cCg	p.L260P	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.L260P|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.L229P|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.L260P			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	260	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CGCTGGGGTCAGGAGGTTGAG	0.642000													12	47					0	0	0.001368	0	0
SELENBP1	8991	broad.mit.edu	37	1	151338815	151338815	+	Missense_Mutation	SNP	T	T	A	rs138557053		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:151338815T>A	ENST00000435071.1	-	7	1049	c.587A>T	c.(586-588)gAc>gTc	p.D196V	SELENBP1_ENST00000447402.3_Missense_Mutation_p.D198V|SELENBP1_ENST00000368868.5_Missense_Mutation_p.D260V|SELENBP1_ENST00000426705.2_Missense_Mutation_p.D302V			Q13228	SBP1_HUMAN	selenium binding protein 1	260					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTGGGCAGCGTCTGGGTTGTG	0.562000													20	102					0	0	0.002299	0	0
MXRA5	25878	broad.mit.edu	37	X	3228008	3228008	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:3228008G>C	ENST00000217939.6	-	7	8390	c.8236C>G	c.(8236-8238)Cgg>Ggg	p.R2746G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2746	Ig-like C2-type 12.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTCCCGGGCCGGGTGTAGATG	0.597000													23	47					0	0	0.002299	0	0
PCDHA4	56144	broad.mit.edu	37	5	140186808	140186808	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:140186808G>T	ENST00000530339.1	+	1	36	c.36G>T	c.(34-36)cgG>cgT	p.R12R	PCDHA4_ENST00000512229.2_Silent_p.R12R|PCDHA4_ENST00000356878.4_Silent_p.R12R|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAATCCCGGCGTCTGCTGC	0.512000													10	61					0.000978159	0.00115057	0.000978	1	0
SPEF2	79925	broad.mit.edu	37	5	35727880	35727880	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:35727880G>T	ENST00000440995.2	+	21	3003	c.3003G>T	c.(3001-3003)aaG>aaT	p.K1001N	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.K1006N			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1006					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)			AGCCACCTAAGCCAGGATCAG	0.428000													18	60					0.00152264	0.00177554	0.001523	1	0
TMPRSS9	360200	broad.mit.edu	37	19	2389903	2389903	+	Silent	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:2389903C>G	ENST00000332578.3	+	1	120	c.120C>G	c.(118-120)gtC>gtG	p.V40V		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	40					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTTGTCGTCCTCACCCTGG	0.592000													4	37					0	0	0.000602	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926730	157926730	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:157926730G>C	ENST00000389413.3	-	9	1298	c.1195C>G	c.(1195-1197)Ctc>Gtc	p.L399V	PTPRN2_ENST00000389418.4_Missense_Mutation_p.L399V|PTPRN2_ENST00000409483.1_Missense_Mutation_p.L361V|PTPRN2_ENST00000404321.2_Missense_Mutation_p.L422V|PTPRN2_ENST00000389416.4_Missense_Mutation_p.L382V	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	399						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGCCCCCGAGTGTGGCACTC	0.602000													7	35					0	0	0.001984	0	0
ACSM5	54988	broad.mit.edu	37	16	20441028	20441028	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:20441028C>A	ENST00000331849.4	+	8	1177	c.1030C>A	c.(1030-1032)Ctg>Atg	p.L344M		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	344					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GAGGCACTGTCTGACCGGAGG	0.562000													18	86					1.99824e-07	3.04708e-07	0.004990	1	0
PFKFB3	5209	broad.mit.edu	37	10	6264857	6264857	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:6264857A>C	ENST00000379775.4	+	11	1453	c.1123A>C	c.(1123-1125)Atg>Ctg	p.M375L	PFKFB3_ENST00000317350.4_Missense_Mutation_p.M375L|PFKFB3_ENST00000360521.2_Missense_Mutation_p.M375L|PFKFB3_ENST00000536985.1_Intron|PFKFB3_ENST00000379782.3_Missense_Mutation_p.M375L|PFKFB3_ENST00000540253.1_Missense_Mutation_p.M389L|PFKFB3_ENST00000379789.4_Missense_Mutation_p.M355L|PFKFB3_ENST00000379785.1_Missense_Mutation_p.M375L	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	375	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GCCAGTGATCATGGAGCTGGA	0.652000													3	18					0	0	0.000248	0	0
STAB2	55576	broad.mit.edu	37	12	104149217	104149217	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:104149217G>T	ENST00000388887.2	+	62	7056	c.6852G>T	c.(6850-6852)atG>atT	p.M2284I	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2284	Link.				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						AGAGTGAAATGTGGGATGTCT	0.572000													6	59					8.12818e-05	0.000103758	0.001984	1	0
IGSF22	283284	broad.mit.edu	37	11	18731050	18731050	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:18731050G>T	ENST00000513874.1	-	18	3021	c.2882C>A	c.(2881-2883)aCa>aAa	p.T961K	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	860										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TCCTCCCACTGTGTAGCAGGT	0.567000													23	54					3.28513e-13	6.23711e-13	0.003954	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611395	84611395	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:84611395G>A	ENST00000286744.5	+	18	2389	c.2165G>A	c.(2164-2166)gGa>gAa	p.G722E	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G722E	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	722	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTGGAGTTGGAATTCAGACC	0.537000													14	52					0	0	0.003163	0	0
GPR115	221393	broad.mit.edu	37	6	47681803	47681803	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:47681803G>T	ENST00000283303.2	+	6	1080	c.822G>T	c.(820-822)caG>caT	p.Q274H	GPR115_ENST00000371220.1_Missense_Mutation_p.Q331H|GPR115_ENST00000327753.3_Missense_Mutation_p.Q274H	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	274					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GAATGGTACAGATTCCCAGGC	0.458000													18	26					2.35188e-11	4.24978e-11	0.006122	1	0
OR4C6	219432	broad.mit.edu	37	11	55432968	55432968	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:55432968G>C	ENST00000314259.3	+	1	355	c.326G>C	c.(325-327)gGg>gCg	p.G109A		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GGTGGTGTGGGGATCATCCTC	0.547000													7	46					0	0	0.004482	0	0
TRIOBP	11078	broad.mit.edu	37	22	38150967	38150967	+	Silent	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr22:38150967T>C	ENST00000406386.3	+	13	5718	c.5463T>C	c.(5461-5463)taT>taC	p.Y1821Y	TRIOBP_ENST00000403663.2_Silent_p.Y108Y|RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000407319.2_Silent_p.Y108Y	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1821	PH.				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GTCTCAAATATTACAGAGACT	0.567000													4	23					0	0	0.000602	0	0
ASTN1	460	broad.mit.edu	37	1	176993800	176993800	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:176993800C>T	ENST00000367654.2	-	6	1202	c.1189G>A	c.(1189-1191)Ggc>Agc	p.G397S	ASTN1_ENST00000424564.2_Missense_Mutation_p.G397S|ASTN1_ENST00000367657.3_Missense_Mutation_p.G397S|ASTN1_ENST00000361833.2_Missense_Mutation_p.G397S|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	397					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						CACACGAGGCCAATCACACAG	0.522000													6	28					0	0	0.001168	0	0
RRP8	23378	broad.mit.edu	37	11	6622385	6622385	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:6622385C>T	ENST00000254605.6	-	3	1028	c.911G>A	c.(910-912)cGc>cAc	p.R304H	RRP8_ENST00000534343.1_Intron	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	304					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						TCACCGCTGGCGAAGATCCCT	0.577000													3	24					0	0	0.000248	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485064	97485064	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:97485064A>T	ENST00000376705.2	+	2	1052	c.1028A>T	c.(1027-1029)aAc>aTc	p.N343I		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	343						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AGTGCAAAGAACAACCTGAAG	0.488000													9	51					0	0	0.008291	0	0
RTN1	6252	broad.mit.edu	37	14	60193775	60193775	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:60193775G>T	ENST00000267484.5	-	3	1962	c.1627C>A	c.(1627-1629)Ctg>Atg	p.L543M		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	543					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCAGGCTCCAGGGCTCCGTCT	0.677000													6	10					3.59834e-05	4.79304e-05	0.001168	1	0
ASTN1	460	broad.mit.edu	37	1	176913034	176913034	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:176913034G>T	ENST00000367654.2	-	14	2407	c.2394C>A	c.(2392-2394)ttC>ttA	p.F798L	ASTN1_ENST00000424564.2_Missense_Mutation_p.F790L|ASTN1_ENST00000367657.3_Missense_Mutation_p.F790L|ASTN1_ENST00000361833.2_Missense_Mutation_p.F790L|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	798					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						CACCAGTCAGGAAGTCAGGGT	0.498000													7	24					0.00198382	0.00228173	0.001984	1	0
PAPPA2	60676	broad.mit.edu	37	1	176740128	176740128	+	Silent	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:176740128T>A	ENST00000367662.3	+	17	5691	c.4527T>A	c.(4525-4527)ctT>ctA	p.L1509L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1509	Sushi 2.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGACATGTCTTGAAGATGGTC	0.483000													21	57					0	0	0.003330	0	0
UGT3A2	167127	broad.mit.edu	37	5	36052038	36052038	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:36052038G>A	ENST00000282507.3	-	3	346	c.245C>T	c.(244-246)cCt>cTt	p.P82L	UGT3A2_ENST00000504954.1_5'UTR|UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000513300.1_Missense_Mutation_p.P48L	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	82						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATGATCTTCAGGTGCAAGCCA	0.294000													20	37					0	0	0.001882	0	0
UGGT2	55757	broad.mit.edu	37	13	96638604	96638604	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:96638604G>A	ENST00000376747.3	-	9	1084	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N	UGGT2_ENST00000397618.3_Silent_p.N338N|UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000376714.3_3'UTR	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	338					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTATGGGGAAGTTCTGTGAAA	0.303000													5	24					0	0	0.001168	0	0
COG4	25839	broad.mit.edu	37	16	70542344	70542344	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:70542344C>A	ENST00000323786.5	-	8	1047	c.1026G>T	c.(1024-1026)ctG>ctT	p.L342L		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	338					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AATTTCTCATCAGGTTGTTCT	0.408000													10	21					4.68919e-08	7.41905e-08	0.008291	1	0
PILRA	29992	broad.mit.edu	37	7	99997503	99997503	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:99997503G>A	ENST00000453419.1	+	6	827	c.628G>A	c.(628-630)Gac>Aac	p.D210N	PILRA_ENST00000394000.2_3'UTR|PILRA_ENST00000198536.2_Silent_p.E295E|PILRA_ENST00000350573.2_Silent_p.E222E	NM_178272.1	NP_840056.1	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	287					interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCAGAACGAGACCCTGTACT	0.587000													20	75					0	0	0.001523	0	0
KRTAP12-1	353332	broad.mit.edu	37	21	46101879	46101879	+	Missense_Mutation	SNP	C	C	A	rs72562333		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr21:46101879C>A	ENST00000391617.1	-	1	199	c.160G>T	c.(160-162)Gtg>Ttg	p.V54L	TSPEAR_ENST00000323084.4_Intron	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN	keratin associated protein 12-1	54	14 X 5 AA approximate repeats.					keratin filament				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						GGCACGCACACAGAGGACTGG	0.662000													26	67					2.48779e-11	4.48335e-11	0.005443	1	0
FLT4	2324	broad.mit.edu	37	5	180057088	180057088	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:180057088C>T	ENST00000261937.6	-	5	609	c.531G>A	c.(529-531)tgG>tgA	p.W177*	FLT4_ENST00000393347.3_Nonsense_Mutation_p.W177*|FLT4_ENST00000502649.1_Nonsense_Mutation_p.W177*|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	177	Ig-like C2-type 2.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCCCGTCTGGCCACAGCACCG	0.672000													6	33					0	0	0.001984	0	0
EVI2B	2124	broad.mit.edu	37	17	29632169	29632169	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:29632169G>T	ENST00000330927.4	-	2	613	c.459C>A	c.(457-459)gtC>gtA	p.V153V	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Silent_p.V153V|EVI2B_ENST00000544462.1_Silent_p.V168V	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	153						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		AAGGGATCTGGACAGATGATG	0.408000													23	121					1.9806e-07	3.03392e-07	0.002299	1	0
LMX1B	4010	broad.mit.edu	37	9	129453247	129453247	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:129453247C>T	ENST00000355497.5	+	3	466	c.459C>T	c.(457-459)ggC>ggT	p.G153G	LMX1B_ENST00000373474.4_Silent_p.G153G|LMX1B_ENST00000526117.1_Silent_p.G153G|LMX1B_ENST00000561065.1_Silent_p.G130G|LMX1B_ENST00000425646.2_Silent_p.G130G	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	130					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						TACGCAAGGGCGACGAATTCG	0.632000									Nail-Patella Syndrome				5	16					0	0	0.000602	0	0
NPHP3	27031	broad.mit.edu	37	3	132440852	132440852	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:132440852C>T	ENST00000326682.8	-	1	424	c.348G>A	c.(346-348)gaG>gaA	p.E116E	NPHP3_ENST00000337331.5_Silent_p.E116E|NPHP3_ENST00000343113.4_Silent_p.E116E|NPHP3_ENST00000383282.2_Silent_p.E116E|NPHP3-AS1_ENST00000489343.1_RNA			Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	116					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	p.E116E(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCAGCTTGGCCTCGCGGCGGC	0.667000													9	33					0	0	0.006214	0	0
TRAV5	28688	broad.mit.edu	37	14	22217500	22217500	+	RNA	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:22217500C>G	ENST00000390427.3	+	0	39																											GATTTTCGTTCCTGTTTTTGT	0.453000													31	118					0	0	0.004289	0	0
PAX4	5078	broad.mit.edu	37	7	127251136	127251136	+	Silent	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:127251136T>A	ENST00000341640.2	-	9	1219	c.1014A>T	c.(1012-1014)ctA>ctT	p.L338L	PAX4_ENST00000463946.1_Silent_p.L336L|PAX4_ENST00000378740.2_Intron|PAX4_ENST00000338516.3_3'UTR	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	0	Transcription repression.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGCCATACAGTAGTGGGCAGC	0.567000													3	14					0	0	0.004672	0	0
KIF21A	55605	broad.mit.edu	37	12	39703569	39703569	+	Splice_Site	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:39703569C>A	ENST00000395670.3	-	32	4519		c.e32-1		KIF21A_ENST00000361418.5_Splice_Site|KIF21A_ENST00000547745.1_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site|KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CAAGTACGATCTAAAACAAAC	0.318000													7	14					0.000274275	0.000337338	0.004482	1	0
CFHR4	10877	broad.mit.edu	37	1	196876619	196876619	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:196876619A>T	ENST00000367416.2	+	5	924	c.787A>T	c.(787-789)Aga>Tga	p.R263*	CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						AGAACCACCAAGATGCATATG	0.353000													5	28					0	0	0.000602	0	0
HAT1	8520	broad.mit.edu	37	2	172844191	172844191	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:172844191G>T	ENST00000264108.4	+	10	1043	c.1007G>T	c.(1006-1008)cGa>cTa	p.R336L	HAT1_ENST00000392584.1_Missense_Mutation_p.R251L|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	336					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GAAATTCTTCGACTACTGGTA	0.353000													12	55					7.03913e-09	1.14876e-08	0.001368	1	0
GAL3ST4	79690	broad.mit.edu	37	7	99757655	99757655	+	Missense_Mutation	SNP	G	G	T	rs150667953	by1000genomes	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:99757655G>T	ENST00000360039.4	-	4	1749	c.1357C>A	c.(1357-1359)Cgc>Agc	p.R453S	GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R453S|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R391S|GAL3ST4_ENST00000423751.1_3'UTR	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	453					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTAGCTAGGCGCTCACATTCC	0.572000													22	42					1.64293e-13	3.13693e-13	0.003330	1	0
PCSK2	5126	broad.mit.edu	37	20	17434598	17434598	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:17434598G>T	ENST00000262545.2	+	9	1412	c.1097G>T	c.(1096-1098)gGt>gTt	p.G366V	PCSK2_ENST00000536609.1_Missense_Mutation_p.G331V|PCSK2_ENST00000377899.1_Missense_Mutation_p.G347V	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	366	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCGAGGCCGGTGTGGTGAGC	0.612000													13	26					4.3838e-07	6.59527e-07	0.001855	1	0
ADAM29	11086	broad.mit.edu	37	4	175898230	175898230	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:175898230G>T	ENST00000359240.3	+	5	2224	c.1554G>T	c.(1552-1554)gaG>gaT	p.E518D	ADAM29_ENST00000404450.4_Missense_Mutation_p.E518D|ADAM29_ENST00000514159.1_Missense_Mutation_p.E518D|ADAM29_ENST00000445694.1_Missense_Mutation_p.E518D	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	518	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTGCAAGTGAGACTTGCTACA	0.433000													11	46					1.08611e-07	1.69062e-07	0.000978	1	0
SEMA3D	223117	broad.mit.edu	37	7	84702316	84702316	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:84702316G>C	ENST00000284136.6	-	4	500	c.457C>G	c.(457-459)Cca>Gca	p.P153A	SEMA3D_ENST00000444867.1_Missense_Mutation_p.P153A	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	153	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CCACATATTGGATGAAATGCT	0.328000													7	33					0	0	0.001984	0	0
CLN6	54982	broad.mit.edu	37	15	68500742	68500742	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:68500742C>A	ENST00000249806.5	-	7	829	c.672G>T	c.(670-672)ctG>ctT	p.L224L	CLN6_ENST00000564752.1_3'UTR|CLN6_ENST00000418702.2_Silent_p.L95L|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000566347.1_Silent_p.L161L|CLN6_ENST00000538696.1_Silent_p.L256L|CLN6_ENST00000565471.1_Silent_p.L71L	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	224					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCTCGGTGACCAGGTACCTGG	0.632000													6	28					5.9392e-07	8.75935e-07	0.001168	1	0
ANAPC1	64682	broad.mit.edu	37	2	112588917	112588917	+	Missense_Mutation	SNP	C	C	A	rs149309834	by1000genomes	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:112588917C>A	ENST00000341068.3	-	21	3343	c.2571G>T	c.(2569-2571)atG>atT	p.M857I		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	857					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GATAAGGTGGCATTCCTTCAC	0.393000													3	34					0.004672	0.00521346	0.004672	1	0
MTMR6	9107	broad.mit.edu	37	13	25831917	25831917	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:25831917C>A	ENST00000381801.5	-	8	1687	c.926G>T	c.(925-927)cGc>cTc	p.R309L	MTMR6_ENST00000540661.1_Missense_Mutation_p.R309L	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	309	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TTTGATATGGCGAAGCCATCC	0.388000													3	41					2.56e-06	3.66335e-06	0.000248	1	0
WAPAL	23063	broad.mit.edu	37	10	88203071	88203071	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:88203071G>T	ENST00000298767.5	-	17	3844	c.3372C>A	c.(3370-3372)taC>taA	p.Y1124*	WAPAL_ENST00000263070.7_Nonsense_Mutation_p.Y336*|WAPAL_ENST00000484070.1_5'UTR|WAPAL_ENST00000372075.1_Nonsense_Mutation_p.Y336*	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1124	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GTAGTGCTGTGTAGGAGGCCA	0.403000													5	28					5.9392e-07	8.75935e-07	0.001168	1	0
ITGB2	3689	broad.mit.edu	37	21	46311723	46311723	+	Splice_Site	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr21:46311723C>T	ENST00000397850.2	-	12	1865		c.e12+1		ITGB2_ENST00000397852.1_Splice_Site|ITGB2_ENST00000397854.3_Splice_Site|ITGB2_ENST00000397857.1_Splice_Site|ITGB2_ENST00000355153.4_Splice_Site|ITGB2_ENST00000302347.5_Splice_Site			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)						apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCCCGCCTCACCTGCAGATGC	0.677000													5	17					0	0	0.000602	0	0
SVIL	6840	broad.mit.edu	37	10	29840143	29840143	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:29840143T>A	ENST00000375398.2	-	8	659	c.210A>T	c.(208-210)caA>caT	p.Q70H	SVIL_ENST00000375400.3_Missense_Mutation_p.Q70H|SVIL_ENST00000355867.4_Missense_Mutation_p.Q70H			O95425	SVIL_HUMAN	supervillin	70	Interaction with MYLK (By similarity).				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGGATCGAGTTTGCTTTTCTA	0.473000													10	42					0	0	0.008291	0	0
PLEC	5339	broad.mit.edu	37	8	144993686	144993686	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:144993686C>G	ENST00000322810.4	-	32	10883	c.10714G>C	c.(10714-10716)Ggc>Cgc	p.G3572R	PLEC_ENST00000357649.2_Missense_Mutation_p.G3439R|PLEC_ENST00000354958.2_Missense_Mutation_p.G3413R|PLEC_ENST00000345136.3_Missense_Mutation_p.G3435R|PLEC_ENST00000398774.2_Missense_Mutation_p.G3403R|PLEC_ENST00000354589.3_Missense_Mutation_p.G3435R|PLEC_ENST00000436759.2_Missense_Mutation_p.G3462R|PLEC_ENST00000527096.1_Missense_Mutation_p.G3458R|PLEC_ENST00000356346.3_Missense_Mutation_p.G3421R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3572	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTCTGTAGCCGGTGACGGCC	0.677000													7	38					0	0	0.006214	0	0
KLHL1	57626	broad.mit.edu	37	13	70681342	70681342	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:70681342C>G	ENST00000377844.4	-	1	1249	c.490G>C	c.(490-492)Gga>Cga	p.G164R	KLHL1_ENST00000545028.1_Missense_Mutation_p.G32R	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	164					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TACCTGTGTCCACATCCTTCA	0.512000													22	48					0	0	0.002299	0	0
PXDNL	137902	broad.mit.edu	37	8	52320835	52320835	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:52320835G>T	ENST00000356297.4	-	17	3449	c.3349C>A	c.(3349-3351)Ctt>Att	p.L1117I	PXDNL_ENST00000543296.1_Missense_Mutation_p.L1117I	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1117					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGACTGAGAAGGTAGGAGGGT	0.582000													9	73					2.17888e-05	2.9728e-05	0.006214	1	0
COL6A5	256076	broad.mit.edu	37	3	130174340	130174340	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:130174340G>T	ENST00000265379.6	+	37	7114	c.6620G>T	c.(6619-6621)gGc>gTc	p.G2207V	COL6A5_ENST00000432398.2_Missense_Mutation_p.G2207V			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2207	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GGAGGTAATGGCTTCATTGGC	0.358000													5	28					5.9392e-07	8.75935e-07	0.001168	1	0
GFAP	2670	broad.mit.edu	37	17	42992462	42992462	+	Silent	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:42992462G>C	ENST00000253408.5	-	1	458	c.393C>G	c.(391-393)acC>acG	p.T131T	GFAP_ENST00000435360.2_Silent_p.T131T|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000586793.1_Silent_p.T131T|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	131	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				CGCTGTTGGCGGTGAGTTGAT	0.652000													5	27					0	0	0.001168	0	0
KMT2A	4297	broad.mit.edu	37	11	118366490	118366490	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:118366490A>T	ENST00000534358.1	+	19	5462	c.5439A>T	c.(5437-5439)gaA>gaT	p.E1813D	KMT2A_ENST00000389506.5_Missense_Mutation_p.E1810D|KMT2A_ENST00000354520.4_Missense_Mutation_p.E1772D	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AGCGAGAGGAAAACAGCCACA	0.473000													5	93					0	0	0.000602	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713412	70713412	+	RNA	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:70713412A>G	ENST00000530196.1	-	0	1106					NR_003951.1																						TATCAACTCCACAATCAATAG	0.408000													19	92					0	0	0.002299	0	0
BOD1L1	259282	broad.mit.edu	37	4	13601510	13601510	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:13601510C>A	ENST00000040738.5	-	10	7149	c.7014G>T	c.(7012-7014)atG>atT	p.M2338I		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2338							DNA binding										CGGAAATTGGCATACATTCTG	0.512000													3	9					0.004672	0.00521346	0.004672	1	0
NEURL4	84461	broad.mit.edu	37	17	7224528	7224528	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:7224528C>A	ENST00000399464.2	-	20	3278	c.3263G>T	c.(3262-3264)aGa>aTa	p.R1088I	NEURL4_ENST00000570460.1_Missense_Mutation_p.R1064I|NEURL4_ENST00000315614.7_Missense_Mutation_p.R1086I	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCCTCCAGTCTCGTGGAACT	0.592000													6	11					0.00116845	0.00136487	0.001168	1	0
VPS13C	54832	broad.mit.edu	37	15	62265686	62265686	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:62265686C>A	ENST00000261517.5	-	26	2657	c.2584G>T	c.(2584-2586)Ggt>Tgt	p.G862C	VPS13C_ENST00000395896.4_Missense_Mutation_p.G862C|VPS13C_ENST00000249837.3_Missense_Mutation_p.G819C|VPS13C_ENST00000395898.3_Missense_Mutation_p.G819C	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	862					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						AGTGAAGTACCAAGTAGACCT	0.318000													11	57					9.31168e-06	1.3048e-05	0.001855	1	0
HCFC1	3054	broad.mit.edu	37	X	153219910	153219910	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:153219910G>A	ENST00000310441.7	-	17	4906	c.3940C>T	c.(3940-3942)Cag>Tag	p.Q1314*	HCFC1_ENST00000369984.4_Nonsense_Mutation_p.Q1314*|HCFC1_ENST00000354233.3_Nonsense_Mutation_p.Q1245*	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1314					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACACCCTCTGGGCGCTGCCT	0.677000													33	146					0	0	0.003755	0	0
VIT	5212	broad.mit.edu	37	2	37036038	37036038	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:37036038A>T	ENST00000379242.3	+	15	2115	c.1813A>T	c.(1813-1815)Aag>Tag	p.K605*	VIT_ENST00000404084.1_Nonsense_Mutation_p.K542*|VIT_ENST00000379241.3_Nonsense_Mutation_p.K568*|VIT_ENST00000401530.1_Nonsense_Mutation_p.K569*|VIT_ENST00000389975.3_Nonsense_Mutation_p.K590*|VIT_ENST00000497382.1_Nonsense_Mutation_p.K259*	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	590	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CAAGAAGTCCAAGCCCAACAA	0.587000													6	32					0	0	0.001168	0	0
GRIP2	80852	broad.mit.edu	37	3	14564574	14564574	+	RNA	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:14564574G>T	ENST00000273083.3	-	0	564							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CCATCTTCATGGGCACCTCCT	0.602000													18	37					1.67942e-08	2.72098e-08	0.006122	1	0
GYPE	2996	broad.mit.edu	37	4	144826671	144826671	+	Translation_Start_Site	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:144826671C>T	ENST00000358615.4	-	0	41				GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)							integral to plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					CCTGAGATCACGAGCTGGCTC	0.398000													4	44					0	0	0.000248	0	0
MLF2	8079	broad.mit.edu	37	12	6857982	6857982	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:6857982C>A	ENST00000203630.5	-	8	1370	c.726G>T	c.(724-726)caG>caT	p.Q242H	MLF2_ENST00000542154.1_Missense_Mutation_p.Q242H|MLF2_ENST00000435120.1_Missense_Mutation_p.Q242H|MLF2_ENST00000539187.1_Missense_Mutation_p.Q242H			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	242					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						AGCGGCGGGACTGTCGGGAAG	0.682000													13	48					2.31682e-05	3.14826e-05	0.003163	1	0
PTPRD	5789	broad.mit.edu	37	9	8517929	8517929	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:8517929A>C	ENST00000381196.4	-	18	2005	c.1462T>G	c.(1462-1464)Tat>Gat	p.Y488D	PTPRD_ENST00000540109.1_Missense_Mutation_p.Y488D|PTPRD_ENST00000486161.1_Missense_Mutation_p.Y488D|PTPRD_ENST00000356435.5_Missense_Mutation_p.Y488D|PTPRD_ENST00000355233.5_Missense_Mutation_p.Y488D|PTPRD_ENST00000397606.3_Missense_Mutation_p.Y478D|PTPRD_ENST00000397611.3_Missense_Mutation_p.Y485D|PTPRD_ENST00000360074.4_Missense_Mutation_p.Y475D|PTPRD_ENST00000397617.3_Missense_Mutation_p.Y478D|PTPRD_ENST00000537002.1_Missense_Mutation_p.Y485D|PTPRD_ENST00000358503.5_Missense_Mutation_p.Y475D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	488	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTGACAGAATATGTTTTCTGG	0.428000										TSP Lung(15;0.13)			9	46					0	0	0.006214	0	0
SNRPB	6628	broad.mit.edu	37	20	2442427	2442427	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:2442427G>A	ENST00000438552.2	-	7	860	c.698C>T	c.(697-699)cCg>cTg	p.P233L	SNRPB_ENST00000381342.2_3'UTR	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	233	Repeat-rich region.				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						GCGCATTCCCGGGGGAGGGGG	0.552000													4	61					0	0	0.001984	0	0
SPATA18	132671	broad.mit.edu	37	4	52943004	52943004	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:52943004G>C	ENST00000295213.4	+	7	1192	c.818G>C	c.(817-819)aGa>aCa	p.R273T	SPATA18_ENST00000419395.2_Missense_Mutation_p.R241T	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	273	Ser-rich.				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AGCCGCAGCAGATCTGCCAGC	0.632000													4	25					0	0	0.000248	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651528	8651528	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:8651528C>G	ENST00000270328.4	-	19	2583	c.2317G>C	c.(2317-2319)Ggg>Cgg	p.G773R	ADAMTS10_ENST00000595838.1_Missense_Mutation_p.G260R|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.G773R			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	773	Spacer.				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						AAGGTGGTCCCAGCTAGAGGC	0.632000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	66					0	0	0.001368	0	0
BEND2	139105	broad.mit.edu	37	X	18194204	18194204	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:18194204G>T	ENST00000380033.4	-	11	1772	c.1640C>A	c.(1639-1641)gCa>gAa	p.A547E	BEND2_ENST00000380030.3_Missense_Mutation_p.A456E	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	547	BEN 1.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AAAAGTTGTTGCCAGATATTC	0.323000													10	32					3.07112e-06	4.36695e-06	0.000978	1	0
PCDHA1	56147	broad.mit.edu	37	5	140166634	140166634	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:140166634G>C	ENST00000504120.2	+	1	759	c.759G>C	c.(757-759)gaG>gaC	p.E253D	PCDHA1_ENST00000378133.3_Missense_Mutation_p.E253D|PCDHA1_ENST00000394633.3_Missense_Mutation_p.E253D	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTGTTAGAGACTACAGCAA	0.468000													9	56					0	0	0.008291	0	0
EPHB2	2048	broad.mit.edu	37	1	23111389	23111389	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:23111389C>T	ENST00000400191.3	+	3	649	c.631C>T	c.(631-633)Ctg>Ttg	p.L211L	EPHB2_ENST00000374630.3_Silent_p.L211L|EPHB2_ENST00000374627.1_Silent_p.L205L|EPHB2_ENST00000374632.3_Silent_p.L211L|EPHB2_ENST00000544305.1_Silent_p.L211L	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	211	Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCAGGAAACCCTGTCGGGGGC	0.612000													6	29					0	0	0.001168	0	0
GLI3	2737	broad.mit.edu	37	7	42065849	42065849	+	Silent	SNP	A	A	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:42065849A>C	ENST00000395925.3	-	8	1275	c.1191T>G	c.(1189-1191)ccT>ccG	p.P397P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	397					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCAGAACCGTAGGGATCCCTG	0.602000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				4	18					0	0	0.000248	0	0
LRFN2	57497	broad.mit.edu	37	6	40400435	40400435	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:40400435C>T	ENST00000338305.6	-	2	960	c.418G>A	c.(418-420)Gca>Aca	p.A140T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	140						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCTCATCTGCGATGCCGCCC	0.592000													11	19					0	0	0.000978	0	0
DLAT	1737	broad.mit.edu	37	11	111915913	111915913	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:111915913A>G	ENST00000280346.6	+	9	1908	c.1249A>G	c.(1249-1251)Aca>Gca	p.T417A	DLAT_ENST00000537636.1_Missense_Mutation_p.T188A|DLAT_ENST00000393051.1_Missense_Mutation_p.T312A	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	417	Catalytic (By similarity).				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	ACCAGTTCCTACAGGTGTCTT	0.468000													40	96					0	0	0.002222	0	0
MROH5	389690	broad.mit.edu	37	8	142476535	142476535	+	RNA	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:142476535G>T	ENST00000430863.1	-	0	2531					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		AGATGTTCAGGAAGGTGGCCA	0.647000													7	12					8.12818e-05	0.000103758	0.001984	1	0
RDH12	145226	broad.mit.edu	37	14	68191237	68191237	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:68191237G>C	ENST00000551171.1	+	4	440	c.116G>C	c.(115-117)gGc>gCc	p.G39A	RDH12_ENST00000267502.3_Missense_Mutation_p.G39A|RDH12_ENST00000539142.1_Missense_Mutation_p.G39A	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	39					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	CAGCTTCCTGGCAAGGTAGTG	0.532000													13	65					0	0	0.002450	0	0
MYH7	4625	broad.mit.edu	37	14	23885422	23885422	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:23885422C>A	ENST00000355349.3	-	34	4906	c.4744G>T	c.(4744-4746)Gag>Tag	p.E1582*		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1582					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGTTCCATCTCCTCGTCCTTC	0.642000													31	111					9.65021e-13	1.80173e-12	0.002096	1	0
PACSIN1	29993	broad.mit.edu	37	6	34497300	34497300	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:34497300G>T	ENST00000538621.1	+	5	828	c.583G>T	c.(583-585)Gtg>Ttg	p.V195L	PACSIN1_ENST00000244458.2_Missense_Mutation_p.V195L|PACSIN1_ENST00000374043.2_Missense_Mutation_p.V153L|PACSIN1_ENST00000486120.1_3'UTR	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	195					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GCAGGACAAAGTGGACAAGTG	0.587000													15	32					3.45872e-05	4.67169e-05	0.004007	1	0
ANKRD50	57182	broad.mit.edu	37	4	125591053	125591053	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:125591053T>C	ENST00000504087.1	-	4	4416	c.3379A>G	c.(3379-3381)Aaa>Gaa	p.K1127E	ANKRD50_ENST00000515641.1_Missense_Mutation_p.K948E	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1127	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GACTGCACTTTTGAAGACAAT	0.398000													6	74					0	0	0.001168	0	0
ZNF536	9745	broad.mit.edu	37	19	31040321	31040321	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:31040321G>T	ENST00000355537.3	+	4	3942	c.3795G>T	c.(3793-3795)ctG>ctT	p.L1265L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGAACATGCTGTCGGTCCTCA	0.587000													11	14					6.40141e-05	8.32925e-05	0.000978	1	0
C7orf60	154743	broad.mit.edu	37	7	112579683	112579683	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:112579683C>G	ENST00000297145.4	-	1	288	c.123G>C	c.(121-123)aaG>aaC	p.K41N		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	41										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GGTGGACGCTCTTCACCACAC	0.647000													4	43					0	0	0.000248	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1																						TGCGCAGGCCAACACTCACTG	0.617000													5	10					0	0	0.001984	0	0
ZNF117	51351	broad.mit.edu	37	7	64438556	64438556	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:64438556T>A	ENST00000282869.5	-	4	2677	c.1393A>T	c.(1393-1395)Ata>Tta	p.I465L		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	465						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GTATGAATTATCTTATGTGTA	0.353000													6	31					0	0	0.001168	0	0
FCER1G	2207	broad.mit.edu	37	1	161188716	161188716	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:161188716G>T	ENST00000289902.1	+	5	269	c.244G>T	c.(244-246)Gag>Tag	p.E82*	FCER1G_ENST00000490414.1_3'UTR|FCER1G_ENST00000367992.3_Intron	NM_004106.1	NP_004097.1	P30273	FCERG_HUMAN	Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	82	ITAM.				platelet activation	integral to plasma membrane				endometrium(1)|lung(5)	6	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Benzylpenicilloyl Polylysine(DB00895)	TCTGAAGCATGAGAAACCACC	0.532000													7	43					0.00307968	0.00351219	0.003080	1	0
KIAA0232	9778	broad.mit.edu	37	4	6865538	6865538	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:6865538A>G	ENST00000307659.5	+	7	3884	c.3429A>G	c.(3427-3429)atA>atG	p.I1143M	KIAA0232_ENST00000425103.1_Missense_Mutation_p.I1143M	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1143							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AAGTTGATATATTTGAAGATC	0.418000													9	24					0	0	0.006214	0	0
ADAM28	10863	broad.mit.edu	37	8	24201028	24201028	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:24201028C>T	ENST00000265769.4	+	18	2031	c.1921C>T	c.(1921-1923)Cat>Tat	p.H641Y	ADAM28_ENST00000397649.3_Missense_Mutation_p.H388Y|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	641	EGF-like.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GGTGTGTGACCATGAGCTCCA	0.488000													5	11					0	0	0.000602	0	0
FRG1B	284802	broad.mit.edu	37	20	29623199	29623199	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:29623199C>A	ENST00000278882.3	+	3	391	c.11C>A	c.(10-12)cCt>cAt	p.P4H	FRG1B_ENST00000358464.4_Missense_Mutation_p.P4H|FRG1B_ENST00000439954.2_Silent_p.T5T																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAGGGAACCTATATACATG	0.383000													11	487					6.94344e-10	1.18478e-09	0.006122	1	0
PPRC1	23082	broad.mit.edu	37	10	103906707	103906707	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:103906707C>T	ENST00000278070.2	+	9	3997	c.3958C>T	c.(3958-3960)Cga>Tga	p.R1320*	PPRC1_ENST00000370012.1_Nonsense_Mutation_p.R287*|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGTGGGCTCCCGATGGAATGT	0.602000													5	30					0	0	0.001168	0	0
ACACA	31	broad.mit.edu	37	17	35627714	35627714	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:35627714G>A	ENST00000353139.5	-	10	1528	c.1047C>T	c.(1045-1047)gcC>gcT	p.A349A	ACACA_ENST00000394406.2_Silent_p.A312A|ACACA_ENST00000360679.3_Silent_p.A254A|ACACA_ENST00000335166.5_Silent_p.A234A	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	312	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTCCCTCTGAGGCCTTGATCA	0.388000													33	127					0	0	0.002836	0	0
PGK2	5232	broad.mit.edu	37	6	49754005	49754005	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:49754005C>T	ENST00000304801.3	-	1	1048	c.896G>A	c.(895-897)gGa>gAa	p.G299E		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	299					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AGTGGCTTTTCCAACCTGAGC	0.453000													47	87					0	0	0.003610	0	0
SERPINA6	866	broad.mit.edu	37	14	94780929	94780929	+	Silent	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:94780929G>C	ENST00000341584.3	-	2	203	c.57C>G	c.(55-57)acC>acG	p.T19T		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	19					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TGGCCTGGACGGTCCAGAGGC	0.547000													21	101					0	0	0.001882	0	0
GPR65	8477	broad.mit.edu	37	14	88477406	88477406	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:88477406A>T	ENST00000267549.3	+	2	773	c.215A>T	c.(214-216)gAt>gTt	p.D72V	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	72					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TTATGGATTGATTATACCTGG	0.393000													10	89					0	0	0.006214	0	0
OGDHL	55753	broad.mit.edu	37	10	50946118	50946118	+	Splice_Site	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:50946118C>A	ENST00000374103.4	-	19	2477	c.2391_splice	c.e19-1	p.A798_splice	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Splice_Site_p.A741_splice|OGDHL_ENST00000432695.1_Splice_Site_p.A589_splice	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	798					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTGGTGAATGCCTGTGGGGAC	0.622000													10	79					0.000442599	0.000536532	0.006214	1	0
RANBP17	64901	broad.mit.edu	37	5	170341170	170341170	+	Splice_Site	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:170341170G>T	ENST00000523189.1	+	8	924		c.e8-1			NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17						mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTTTTCCCAGTTTTCCTGGA	0.333000			T	TRD@	ALL								3	32					0.00024832	0.000308796	0.000248	1	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	50					0	0	0.000602	0	0
FURIN	5045	broad.mit.edu	37	15	91421384	91421384	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:91421384G>T	ENST00000268171.3	+	8	969	c.690G>T	c.(688-690)gaG>gaT	p.E230D		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	230					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	p.G229_D233delGEVTD(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TGGATGGCGAGGTGACAGATG	0.662000													12	53					1.05317e-09	1.77904e-09	0.002450	1	0
PDHA2	5161	broad.mit.edu	37	4	96761915	96761915	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:96761915C>A	ENST00000295266.4	+	1	677	c.614C>A	c.(613-615)gCt>gAt	p.A205D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	205					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ATAGCCGAAGCTTTCAATATG	0.458000													10	41					7.48243e-07	1.09873e-06	0.006214	1	0
NES	10763	broad.mit.edu	37	1	156640315	156640315	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:156640315C>A	ENST00000368223.3	-	4	3797	c.3665G>T	c.(3664-3666)aGc>aTc	p.S1222I		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1222	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTACGTTGGGCTGGGGGAGAC	0.647000													19	83					2.4624e-09	4.03809e-09	0.008871	1	0
PIEZO2	63895	broad.mit.edu	37	18	10681740	10681740	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:10681740G>T	ENST00000302079.6	-	46	7168	c.7169C>A	c.(7168-7170)aCa>aAa	p.T2390K	PIEZO2_ENST00000538948.1_Missense_Mutation_p.T410K|PIEZO2_ENST00000503781.3_Missense_Mutation_p.T2453K|PIEZO2_ENST00000285141.4_Missense_Mutation_p.T245K|PIEZO2_ENST00000580640.1_Missense_Mutation_p.T2478K			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2422						integral to membrane	ion channel activity										GGCACTCATTGTGAAAATAGG	0.388000													13	73					0.00185496	0.00215931	0.001855	1	0
MOGAT1	116255	broad.mit.edu	37	2	223574461	223574461	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:223574461G>T	ENST00000446656.3	+	6	860	c.860G>T	c.(859-861)cGc>cTc	p.R287L		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	287					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		GCAGTTGGCCGCCCGATCCCT	0.502000													22	110					4.72057e-08	7.45121e-08	0.003954	1	0
RGR	5995	broad.mit.edu	37	10	86004867	86004867	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:86004867G>T	ENST00000359452.4	+	1	59	c.21G>T	c.(19-21)ctG>ctT	p.L7L	RGR_ENST00000372092.3_Silent_p.L7L|RGR_ENST00000358110.5_Silent_p.L7L	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	7					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CCAGTGCCCTGCCCACTGGCT	0.657000													5	33					1.6384e-10	2.86826e-10	0.001984	1	0
OR51T1	401665	broad.mit.edu	37	11	4903521	4903521	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:4903521C>A	ENST00000380378.1	+	1	473	c.473C>A	c.(472-474)cCa>cAa	p.P158Q	OR51T1_ENST00000322049.1_Missense_Mutation_p.P131Q|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCTGTAACCCACTGAACTAT	0.498000													26	48					5.49717e-05	7.26488e-05	0.003330	1	0
UNC5C	8633	broad.mit.edu	37	4	96091391	96091391	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:96091391G>T	ENST00000453304.1	-	15	2892	c.2544C>A	c.(2542-2544)atC>atA	p.I848I		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	848					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCTTCTGCCGGATAGGGAGAG	0.592000													35	99					1.47244e-24	3.04426e-24	0.006230	1	0
TSIX	9383	broad.mit.edu	37	X	73044429	73044429	+	RNA	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:73044429A>T	ENST00000604411.1	+	0	32390				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TGGTTTAACTATACAATGAGA	0.294000													3	11					0	0	0.004672	0	0
FGA	2243	broad.mit.edu	37	4	155505732	155505732	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:155505732G>T	ENST00000302053.3	-	6	2223	c.2145C>A	c.(2143-2145)caC>caA	p.H715Q		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	715	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GGGTTAGTAAGTGGAGGTAGT	0.502000													19	85					1.33834e-09	2.23831e-09	0.007413	1	0
THBS2	7058	broad.mit.edu	37	6	169648888	169648888	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:169648888A>G	ENST00000366787.3	-	4	482	c.233T>C	c.(232-234)aTg>aCg	p.M78T		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	78	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CTTCTGCCGCATGATCTTGGT	0.647000													16	21					0	0	0.003163	0	0
PAK1	5058	broad.mit.edu	37	11	77064628	77064628	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:77064628C>A	ENST00000356341.3	-	8	1320	c.789G>T	c.(787-789)gtG>gtT	p.V263V	PAK1_ENST00000525542.1_Intron|PAK1_ENST00000278568.4_Silent_p.V263V|PAK1_ENST00000530617.1_Silent_p.V263V|PAK1_ENST00000528203.1_Silent_p.V165V	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	263	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					TAGGATCGCCCACACTCACTA	0.413000													17	28					2.35188e-11	4.24978e-11	0.006122	1	0
ATF4P4	100127952	broad.mit.edu	37	11	113660417	113660417	+	RNA	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:113660417T>A	ENST00000393544.2	+	0	465																											CCAGAACCTGTGTGAGAAAGA	0.562000													3	4					0	0	0.000248	0	0
MUC16	94025	broad.mit.edu	37	19	9088580	9088580	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:9088580A>G	ENST00000397910.4	-	1	3438	c.3235T>C	c.(3235-3237)Tca>Cca	p.S1079P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1079	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGACATTGAGACACTTTCT	0.453000													4	45					0	0	0.000248	0	0
FRY	10129	broad.mit.edu	37	13	32835909	32835909	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:32835909G>T	ENST00000380250.3	+	52	8069	c.7573G>T	c.(7573-7575)Gag>Tag	p.E2525*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATCATCCGAGGAGGAGGACCT	0.493000													4	33					0.00024832	0.000308796	0.000248	1	0
NAV2	89797	broad.mit.edu	37	11	20066649	20066649	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:20066649C>A	ENST00000396085.1	+	14	3696	c.3335C>A	c.(3334-3336)aCa>aAa	p.T1112K	NAV2_ENST00000533917.1_Missense_Mutation_p.T198K|NAV2_ENST00000311043.8_Missense_Mutation_p.T198K|NAV2_ENST00000396087.3_Missense_Mutation_p.T1135K|NAV2_ENST00000349880.4_Missense_Mutation_p.T1112K|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000540292.1_Missense_Mutation_p.T1066K|NAV2_ENST00000527559.2_Missense_Mutation_p.T1064K|NAV2_ENST00000360655.4_Missense_Mutation_p.T1048K	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1135						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGCTCTAGGACACCTACTGCC	0.602000													10	44					0.000442599	0.000536532	0.006214	1	0
SIGLEC6	946	broad.mit.edu	37	19	52034735	52034735	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:52034735G>T	ENST00000346477.3	-	2	174	c.106C>A	c.(106-108)Cca>Aca	p.P36T	SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P36T|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P36T|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P36T|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P36T	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	36	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGTGACTCTGGCCCCTCCAGC	0.632000													8	41					0.000274275	0.000337338	0.004482	1	0
PRRG3	79057	broad.mit.edu	37	X	150869328	150869328	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:150869328C>A	ENST00000370353.3	+	4	909	c.519C>A	c.(517-519)agC>agA	p.S173R	PRRG3_ENST00000538575.1_Missense_Mutation_p.S173R			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	173						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTAGAGAGCACCCTCTACC	0.667000													11	22					5.16669e-11	9.21256e-11	0.000978	1	0
ABCA9	10350	broad.mit.edu	37	17	67022604	67022604	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:67022604C>T	ENST00000340001.4	-	16	2266	c.2055G>A	c.(2053-2055)agG>agA	p.R685R	ABCA9_ENST00000453985.2_Silent_p.R685R|ABCA9_ENST00000370732.2_Silent_p.R685R	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	685	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGAACACCTTCCTGTCTAGTT	0.368000													5	114					0	0	0.000602	0	0
ZFP64	55734	broad.mit.edu	37	20	50713933	50713933	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:50713933G>A	ENST00000361387.2	-	7	1015	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371523.4_Missense_Mutation_p.R100C|ZFP64_ENST00000371518.2_Missense_Mutation_p.R319C	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGAGATGGCGGTCCAAGTCT	0.408000													42	166					0	0	0.002852	0	0
CDH9	1007	broad.mit.edu	37	5	26881513	26881513	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:26881513C>A	ENST00000231021.4	-	12	2274	c.2102G>T	c.(2101-2103)aGg>aTg	p.R701M		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	701					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CACAGTCCTCCTTATCTGAAA	0.408000													49	60					6.17242e-35	1.28799e-34	0.003610	1	0
HBB	3043	broad.mit.edu	37	11	5246840	5246840	+	Missense_Mutation	SNP	G	G	T	rs33918338	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:5246840G>T	ENST00000335295.3	-	3	607	c.432C>A	c.(430-432)caC>caA	p.H144Q		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	144			H -> D (in Rancho Mirage).|H -> P (in Syracuse; O(2) affinity up).|H -> Q (in Little Rock; O(2) affinity up).|H -> R (in Abruzzo; O(2) affinity up).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	AGTGATACTTGTGGGCCAGGG	0.488000									Sickle Cell Trait				14	74					0.000308642	0.000378916	0.003163	1	0
PHF19	26147	broad.mit.edu	37	9	123628067	123628067	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:123628067T>A	ENST00000373896.3	-	9	1073	c.821A>T	c.(820-822)cAg>cTg	p.Q274L	PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_Missense_Mutation_p.Q65L	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTCTTGCTCTGTACCCCCAG	0.572000													27	54					0	0	0.007291	0	0
C9orf3	84909	broad.mit.edu	37	9	97522328	97522328	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:97522328G>A	ENST00000375315.2	+	1	263	c.263G>A	c.(262-264)aGg>aAg	p.R88K	C9orf3_ENST00000297979.5_Missense_Mutation_p.R88K|C9orf3_ENST00000277198.2_Missense_Mutation_p.R88K	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	88					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		ACAAATGCAAGGACCTTCTCA	0.393000													21	47					0	0	0.001882	0	0
SF3B2	10992	broad.mit.edu	37	11	65828200	65828200	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:65828200G>T	ENST00000528302.1	+	13	1780	c.1726G>T	c.(1726-1728)Gag>Tag	p.E576*	SF3B2_ENST00000322535.6_Nonsense_Mutation_p.E593*			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	593					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCTGTACTATGAGGTTCGGGA	0.483000													10	53					0.000673444	0.000800531	0.008291	1	0
TRPM2	7226	broad.mit.edu	37	21	45821588	45821588	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr21:45821588C>A	ENST00000397928.1	+	16	2791	c.2346C>A	c.(2344-2346)ggC>ggA	p.G782G	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.G782G|TRPM2_ENST00000300481.9_Silent_p.G762G|TRPM2_ENST00000397932.2_Silent_p.G782G	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	782						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGGATGTGGGCACCCCCGCGG	0.662000													15	36					4.93089e-13	9.33545e-13	0.002450	1	0
CLTCL1	8218	broad.mit.edu	37	22	19175104	19175104	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr22:19175104C>T	ENST00000263200.10	-	29	4643	c.4571G>A	c.(4570-4572)aGc>aAc	p.S1524N	CLTCL1_ENST00000427926.1_Missense_Mutation_p.S1524N|CLTCL1_ENST00000353891.5_Intron|CLTCL1_ENST00000442042.2_Intron	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1524	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GAGCTCCACGCTCTGGGCCCA	0.567000			T	?	ALCL								6	42					0	0	0.001168	0	0
LINC00202-2	731789	broad.mit.edu	37	10	26939566	26939566	+	RNA	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:26939566G>T	ENST00000544033.1	+	0	5499					NR_026794.1																						AGAGGCCCAGGCACATGCTGA	0.557000													12	37					6.40141e-05	8.32925e-05	0.000978	1	0
FCRL1	115350	broad.mit.edu	37	1	157771743	157771743	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:157771743C>A	ENST00000358292.3	-	5	899	c.848G>T	c.(847-849)gGg>gTg	p.G283V	FCRL1_ENST00000491942.1_Missense_Mutation_p.G283V|FCRL1_ENST00000368176.3_Missense_Mutation_p.G283V|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	283	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCGCTGGGCCCCCAGGCCATT	0.572000													15	55					1.15088e-07	1.77911e-07	0.004007	1	0
DUSP27	92235	broad.mit.edu	37	1	167095924	167095924	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:167095924A>T	ENST00000361200.2	+	6	1722	c.1556A>T	c.(1555-1557)gAt>gTt	p.D519V	DUSP27_ENST00000271385.5_Missense_Mutation_p.D519V|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.D519V			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	519					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGGGAGGATGATGAGGACAGC	0.567000													14	36					0	0	0.001855	0	0
NID1	4811	broad.mit.edu	37	1	236201536	236201536	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:236201536C>A	ENST00000264187.6	-	5	1235	c.1153G>T	c.(1153-1155)Gat>Tat	p.D385Y	NID1_ENST00000366595.3_Missense_Mutation_p.D385Y	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	385					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TGGCGGGAATCCGTGTTATAG	0.552000													15	71					3.52763e-06	5.00552e-06	0.004990	1	0
GLUD2	2747	broad.mit.edu	37	X	120182771	120182771	+	Silent	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:120182771A>G	ENST00000328078.1	+	1	1310	c.1233A>G	c.(1231-1233)ccA>ccG	p.P411P		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	411					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	CAACAACTCCAGAAGCTGATA	0.463000													27	151					0	0	0.006320	0	0
AIRE	326	broad.mit.edu	37	21	45707006	45707006	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr21:45707006C>T	ENST00000291582.5	+	3	580	c.453C>T	c.(451-453)acC>acT	p.T151T		NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	151					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CAAGGGGCACCGCCAGCCCAG	0.706000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				12	31					0	0	0.000978	0	0
MUC6	4588	broad.mit.edu	37	11	1017315	1017315	+	Missense_Mutation	SNP	G	G	C	rs71472140		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:1017315G>C	ENST00000421673.2	-	31	5536	c.5486C>G	c.(5485-5487)cCa>cGa	p.P1829R		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1829	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGGTGTGATGGGGTTGGATA	0.552000													48	703					0	0	0.003610	0	0
RTTN	25914	broad.mit.edu	37	18	67794893	67794893	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:67794893G>A	ENST00000255674.6	-	25	3514	c.3228C>T	c.(3226-3228)ctC>ctT	p.L1076L	RTTN_ENST00000437017.1_Silent_p.L1076L|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1076							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CAATGGAATGGAGGCAGTCCT	0.438000													6	26					0	0	0.001984	0	0
USP1	7398	broad.mit.edu	37	1	62916107	62916107	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:62916107A>T	ENST00000339950.4	+	9	2628	c.1813A>T	c.(1813-1815)Agt>Tgt	p.S605C	USP1_ENST00000371146.1_Missense_Mutation_p.S605C	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	605					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		TGACCTTAACAGTTTAGAACT	0.398000													9	37					0	0	0.004482	0	0
EPHA10	284656	broad.mit.edu	37	1	38230655	38230655	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:38230655C>T	ENST00000373048.4	-	1	83	c.84G>A	c.(82-84)tgG>tgA	p.W28*	EPHA10_ENST00000427468.2_Nonsense_Mutation_p.W28*|EPHA10_ENST00000319637.6_Nonsense_Mutation_p.W28*	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	28						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCCAGGCCGCCAGGGTCCCA	0.657000													5	13					0	0	0.000602	0	0
CLIP3	25999	broad.mit.edu	37	19	36508345	36508345	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:36508345C>A	ENST00000360535.4	-	12	1686	c.1459G>T	c.(1459-1461)Gga>Tga	p.G487*	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Nonsense_Mutation_p.G487*	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	487					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCAGTGGATCCGCCAATCCTG	0.567000													13	45					1.05317e-09	1.77904e-09	0.002450	1	0
CLEC4D	338339	broad.mit.edu	37	12	8670779	8670779	+	Silent	SNP	A	A	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:8670779A>C	ENST00000299665.2	+	3	334	c.141A>C	c.(139-141)tcA>tcC	p.S47S		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	47					innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					ACAACTTTTCACGCTGTAAGA	0.398000													6	6					0	0	0.001984	0	0
SLC25A51	92014	broad.mit.edu	37	9	37888039	37888039	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:37888039C>A	ENST00000377716.2	-	3	1252	c.509G>T	c.(508-510)gGa>gTa	p.G170V	SLC25A51_ENST00000496760.1_Intron|SLC25A51_ENST00000242275.6_Missense_Mutation_p.G170V|RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000380590.3_Missense_Mutation_p.G170V			Q9H1U9	MCAR1_HUMAN	solute carrier family 25, member 51	170					transport	integral to membrane|mitochondrial inner membrane											ATAATACTCTCCAATTCCATG	0.458000													8	77					0.00307968	0.00351219	0.003080	1	0
IFITM2	10581	broad.mit.edu	37	11	308242	308242	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:308242C>T	ENST00000399817.4	+	1	80	c.50C>T	c.(49-51)cCc>cTc	p.P17L	IFITM2_ENST00000602569.1_5'UTR|IFITM2_ENST00000533141.1_5'UTR	NM_006435.2	NP_006426.2	Q01629	IFM2_HUMAN	interferon induced transmembrane protein 2	17					response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGCCAGCCTCCCAACTACGAG	0.602000													12	107					0	0	0.000978	0	0
REG1P	5969	broad.mit.edu	37	2	79364411	79364411	+	RNA	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:79364411C>A	ENST00000444841.1	-	0	223																											GCCTTAGGCACTGGTGCCTTC	0.537000													3	22					0.004672	0.00521346	0.004672	1	0
GRIP2	80852	broad.mit.edu	37	3	14564646	14564646	+	RNA	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:14564646C>A	ENST00000273083.3	-	0	556							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GAGGCTCCCACACAGCCCCTG	0.542000													9	15					0.000442599	0.000536532	0.006214	1	0
KCNH5	27133	broad.mit.edu	37	14	63417223	63417223	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:63417223G>T	ENST00000322893.7	-	7	1265	c.997C>A	c.(997-999)Cgt>Agt	p.R333S	KCNH5_ENST00000394968.1_Missense_Mutation_p.R275S|KCNH5_ENST00000420622.2_Missense_Mutation_p.R333S|KCNH5_ENST00000394964.2_Missense_Mutation_p.R275S	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	333					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTAGCCACACGGCCCAGTCGT	0.463000													14	52					1.52009e-12	2.82243e-12	0.003163	1	0
PCDHA5	56143	broad.mit.edu	37	5	140202993	140202993	+	Missense_Mutation	SNP	G	G	A	rs143450009		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:140202993G>A	ENST00000529859.1	+	1	1633	c.1633G>A	c.(1633-1635)Ggc>Agc	p.G545S	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.G545S|PCDHA5_ENST00000529619.1_Missense_Mutation_p.G545S|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCCTCTGGGCAGCAACGT	0.701000													11	73					0	0	0.001855	0	0
NAV3	89795	broad.mit.edu	37	12	78522583	78522583	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:78522583C>A	ENST00000397909.2	+	18	4551	c.4378C>A	c.(4378-4380)Cct>Act	p.P1460T	NAV3_ENST00000228327.6_Missense_Mutation_p.P1460T|NAV3_ENST00000536525.2_Missense_Mutation_p.P1460T|NAV3_ENST00000266692.7_Missense_Mutation_p.P1283T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1460	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAACCAGTCACCTCTGGTTTC	0.443000										HNSCC(70;0.22)			11	43					1.58986e-06	2.2995e-06	0.008291	1	0
MAP3K12	7786	broad.mit.edu	37	12	53880347	53880347	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:53880347G>T	ENST00000267079.2	-	4	631	c.406C>A	c.(406-408)Cag>Aag	p.Q136K	MAP3K12_ENST00000547488.1_Missense_Mutation_p.Q169K|MAP3K12_ENST00000547151.1_5'UTR|MAP3K12_ENST00000547035.1_Missense_Mutation_p.Q169K	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	136	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						ACAGCACCCTGGGCCCCTGAG	0.597000													3	16					6.4e-05	8.32925e-05	0.004672	1	0
OR56A3	390083	broad.mit.edu	37	11	5969347	5969347	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:5969347C>A	ENST00000329564.6	+	1	778	c.771C>A	c.(769-771)acC>acA	p.T257T		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T257T(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTCAGCACCATCCTTCTGG	0.527000													16	104					0.00074312	0.000880251	0.006122	1	0
PHF12	57649	broad.mit.edu	37	17	27251018	27251018	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:27251018C>T	ENST00000577226.1	-	4	970	c.624G>A	c.(622-624)cgG>cgA	p.R208R	PHF12_ENST00000268756.3_Silent_p.R208R|PHF12_ENST00000332830.4_Silent_p.R208R|PHF12_ENST00000582655.1_5'UTR			Q96QT6	PHF12_HUMAN	PHD finger protein 12	208	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GCTCAAAGGGCCGCCTCAGCT	0.562000													11	21					0	0	0.000978	0	0
CTNNA2	1496	broad.mit.edu	37	2	80801338	80801338	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:80801338G>T	ENST00000466387.1	+	17	2516	c.1792G>T	c.(1792-1794)Gcc>Tcc	p.A598S	CTNNA2_ENST00000361291.4_Missense_Mutation_p.A632S|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A598S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A598S|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A598S|CTNNA2_ENST00000343114.3_Missense_Mutation_p.A277S|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A598S			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	598					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGCCCTGAGTGCCAACGTTCC	0.488000													22	67					1.5548e-18	3.12816e-18	0.005443	1	0
OR2T12	127064	broad.mit.edu	37	1	248458764	248458764	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:248458764G>T	ENST00000317996.1	-	1	116	c.117C>A	c.(115-117)agC>agA	p.S39R		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGAGGGCATTGCTAAACAGGG	0.512000													17	73					2.35188e-11	4.24978e-11	0.006122	1	0
AFF3	3899	broad.mit.edu	37	2	100210181	100210181	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:100210181C>T	ENST00000317233.4	-	14	2177	c.1942G>A	c.(1942-1944)Gag>Aag	p.E648K	AFF3_ENST00000409236.1_Missense_Mutation_p.E648K|AFF3_ENST00000409579.1_Missense_Mutation_p.E673K|AFF3_ENST00000356421.2_Missense_Mutation_p.E673K	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	648					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E673*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGGCGCTTCTCGCAGGTCACG	0.637000													6	41					0	0	0.001984	0	0
MRC2	9902	broad.mit.edu	37	17	60749477	60749477	+	Silent	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:60749477G>C	ENST00000303375.5	+	8	1827	c.1425G>C	c.(1423-1425)cgG>cgC	p.R475R		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	475	C-type lectin 2.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						ACAACTTCCGGGACAGTCTGG	0.572000													13	71					0	0	0.002450	0	0
PCDH15	65217	broad.mit.edu	37	10	55581994	55581994	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:55581994G>A	ENST00000361849.3	-	34	5892	c.5498C>T	c.(5497-5499)cCt>cTt	p.P1833L	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1791L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1762L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1831L|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1808L|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1828L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1831					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAAGCTgaaggaggtggagg	0.488000										HNSCC(58;0.16)			4	41					0	0	0.000248	0	0
TTN	7273	broad.mit.edu	37	2	179567254	179567254	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:179567254G>C	ENST00000589042.1	-	107	30584	c.30360C>G	c.(30358-30360)agC>agG	p.S10120R	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S8876R|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S9803R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9803	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTATTTCTGGCTCTCTGTCA	0.458000													5	173					0	0	0.001168	0	0
UBE2S	27338	broad.mit.edu	37	19	55912895	55912895	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:55912895C>T	ENST00000264552.9	-	4	765	c.578G>A	c.(577-579)gGt>gAt	p.G193D	RPL28_ENST00000560055.1_Intron	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	193					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		GGCCATGGGACCCTCAGCCCC	0.701000													5	32					0	0	0.000602	0	0
CSMD1	64478	broad.mit.edu	37	8	2857539	2857539	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:2857539G>C	ENST00000520002.1	-	54	8702	c.8147C>G	c.(8146-8148)aCt>aGt	p.T2716S	CSMD1_ENST00000602557.1_Missense_Mutation_p.T2716S|CSMD1_ENST00000542608.1_Missense_Mutation_p.T2657S|CSMD1_ENST00000400186.3_Missense_Mutation_p.T2658S|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2715S|CSMD1_ENST00000602723.1_Missense_Mutation_p.T2658S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2716	Sushi 18.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTCACGGAAGTTCCCACAAG	0.512000													12	76					0	0	0.002450	0	0
FRAS1	80144	broad.mit.edu	37	4	79205600	79205600	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:79205600G>C	ENST00000264895.6	+	13	1737	c.1297G>C	c.(1297-1299)Gac>Cac	p.D433H	FRAS1_ENST00000325942.6_Missense_Mutation_p.D433H|FRAS1_ENST00000264899.6_Missense_Mutation_p.D433H	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	433					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCAGTCTCCAGACCACTGTGA	0.458000													47	143					0	0	0.003610	0	0
PAX2	5076	broad.mit.edu	37	10	102584444	102584444	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:102584444C>T	ENST00000370296.2	+	9	1578	c.1028C>T	c.(1027-1029)cCt>cTt	p.P343L	PAX2_ENST00000556085.1_Missense_Mutation_p.P319L|PAX2_ENST00000428433.1_Missense_Mutation_p.P343L|PAX2_ENST00000355243.3_Missense_Mutation_p.P320L|PAX2_ENST00000361791.3_Missense_Mutation_p.P320L			Q02962	PAX2_HUMAN	paired box 2	343					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GGTTACCCCCCTCACGTGCCC	0.612000													18	64					0	0	0.008871	0	0
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs149757187		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:114269973A>G	ENST00000393500.3	+	11	1105	c.285A>G	c.(283-285)caA>caG	p.Q95Q	FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502000													3	40					0	0	0.004672	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230536	140230536	+	Nonsense_Mutation	SNP	T	T	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:140230536T>G	ENST00000378122.3	+	1	3180	c.2456T>G	c.(2455-2457)tTa>tGa	p.L819*	PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTATCGATTACTCCCAGGG	0.348000													11	65					0	0	0.008291	0	0
MRGPRD	116512	broad.mit.edu	37	11	68748403	68748403	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:68748403G>T	ENST00000309106.3	-	1	52	c.53C>A	c.(52-54)tCc>tAc	p.S18Y		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	18						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCTCCCTCTGGAATAGTTTAG	0.552000													10	35					2.17888e-05	2.9728e-05	0.006214	1	0
CDK17	5128	broad.mit.edu	37	12	96707213	96707213	+	Silent	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:96707213T>C	ENST00000261211.3	-	4	906	c.303A>G	c.(301-303)ctA>ctG	p.L101L	CDK17_ENST00000542666.1_Silent_p.L48L|CDK17_ENST00000543119.2_Silent_p.L101L	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	101							ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						ATCCCATTTTTAGATTTTCAT	0.313000													5	20					0	0	0.000602	0	0
LRP1B	53353	broad.mit.edu	37	2	141751612	141751612	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:141751612C>A	ENST00000389484.3	-	16	3567	c.2596G>T	c.(2596-2598)Ggc>Tgc	p.G866C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	866	LDL-receptor class A 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATCGTCGCCATCACATTTC	0.433000										TSP Lung(27;0.18)			6	37					0.00116845	0.00136487	0.001168	1	0
TEKT4	150483	broad.mit.edu	37	2	95537426	95537426	+	Silent	SNP	C	C	T	rs34195690		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:95537426C>T	ENST00000295201.4	+	1	239	c.102C>T	c.(100-102)ttC>ttT	p.F34F	TEKT4_ENST00000427593.2_Silent_p.F34F|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	34					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCGCCAGCTTCCGCACCTCCA	0.677000													6	31					0	0	0.001168	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495189	6495189	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:6495189C>T	ENST00000264071.2	-	4	1692	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	TUBB4A_ENST00000540257.1_Missense_Mutation_p.E441K			P04350	TBB4_HUMAN	tubulin, beta 4A class IVa	441					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										GCCACCTCCTCCTCCGCCTCC	0.632000													10	46					0	0	0.006214	0	0
ASXL3	80816	broad.mit.edu	37	18	31319095	31319095	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:31319095C>A	ENST00000269197.5	+	11	1727	c.1727C>A	c.(1726-1728)tCa>tAa	p.S576*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	576					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						AAAACAGGGTCATCTTCTCTA	0.423000													6	13					3.59834e-05	4.79304e-05	0.001168	1	0
ZNF536	9745	broad.mit.edu	37	19	30934612	30934612	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:30934612C>A	ENST00000355537.3	+	2	290	c.143C>A	c.(142-144)cCc>cAc	p.P48H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CATGCCTTCCCCGAGCTCCAT	0.667000													19	65					5.35267e-07	8.03496e-07	0.007413	1	0
PLCL1	5334	broad.mit.edu	37	2	198949235	198949235	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:198949235G>A	ENST00000428675.1	+	2	1392	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	PLCL1_ENST00000437704.2_Missense_Mutation_p.A234T	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	332					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATATTTGGATGCCAATGATCT	0.383000													6	52					0	0	0.001984	0	0
TP63	8626	broad.mit.edu	37	3	189526191	189526191	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:189526191C>A	ENST00000264731.3	+	4	544	c.455C>A	c.(454-456)cCc>cAc	p.P152H	TP63_ENST00000440651.2_Missense_Mutation_p.P152H|TP63_ENST00000392460.3_Missense_Mutation_p.P152H|TP63_ENST00000354600.5_Missense_Mutation_p.P58H|TP63_ENST00000449992.1_Intron|TP63_ENST00000418709.2_Missense_Mutation_p.P152H|TP63_ENST00000456148.1_Missense_Mutation_p.P58H|TP63_ENST00000392463.2_Missense_Mutation_p.P58H|TP63_ENST00000320472.5_Missense_Mutation_p.P152H|TP63_ENST00000392461.3_Missense_Mutation_p.P58H|TP63_ENST00000437221.1_Missense_Mutation_p.P58H|TP63_ENST00000382063.4_Intron	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	152					anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TACGCACAGCCCAGCTCCACC	0.622000										HNSCC(45;0.13)			17	53					0.00498961	0.00555867	0.004990	1	0
OR10C1	442194	broad.mit.edu	37	6	29408311	29408311	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:29408311C>A	ENST00000444197.2	+	1	1229	c.519C>A	c.(517-519)atC>atA	p.I173I	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCAATACCATCCCGCAGTTCT	0.587000													39	69					1.04594e-18	2.11701e-18	0.006230	1	0
OGDH	4967	broad.mit.edu	37	7	44737016	44737016	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:44737016G>C	ENST00000222673.5	+	16	2141	c.2099G>C	c.(2098-2100)tGc>tCc	p.C700S	OGDH_ENST00000449767.1_Missense_Mutation_p.C696S|OGDH_ENST00000444676.1_Missense_Mutation_p.C715S|OGDH_ENST00000447398.1_Missense_Mutation_p.C711S|OGDH_ENST00000439616.2_Missense_Mutation_p.C550S|OGDH_ENST00000543843.1_Missense_Mutation_p.C651S	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	700					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AAGAGAACCTGCATCCCCATG	0.537000													12	38					0	0	0.000978	0	0
YES1	7525	broad.mit.edu	37	18	743036	743036	+	Silent	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:743036T>C	ENST00000584307.1	-	8	1112	c.942A>G	c.(940-942)ccA>ccG	p.P314P	YES1_ENST00000314574.4_Silent_p.P314P|YES1_ENST00000577961.1_Silent_p.P319P			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	314	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GGAAAGCTTCTGGCATCATTG	0.318000													7	27					0	0	0.003080	0	0
PAX2	5076	broad.mit.edu	37	10	102539287	102539287	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:102539287A>T	ENST00000370296.2	+	4	993	c.443A>T	c.(442-444)cAc>cTc	p.H148L	PAX2_ENST00000556085.1_Missense_Mutation_p.H147L|PAX2_ENST00000428433.1_Missense_Mutation_p.H148L|PAX2_ENST00000553492.1_3'UTR|PAX2_ENST00000355243.3_Missense_Mutation_p.H148L|PAX2_ENST00000361791.3_Missense_Mutation_p.H148L			Q02962	PAX2_HUMAN	paired box 2	148					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CAGCCTTTCCACCCAACGCCG	0.582000													5	7					0	0	0.001168	0	0
SPAM1	6677	broad.mit.edu	37	7	123594058	123594058	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:123594058T>C	ENST00000340011.5	+	3	791	c.434T>C	c.(433-435)aTt>aCt	p.I145T	SPAM1_ENST00000460182.1_Missense_Mutation_p.I145T|SPAM1_ENST00000223028.7_Missense_Mutation_p.I145T|SPAM1_ENST00000402183.2_Missense_Mutation_p.I145T|SPAM1_ENST00000439500.1_Missense_Mutation_p.I145T	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	145					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	ATGGCTGTTATTGACTGGGAA	0.393000													14	35					0	0	0.002450	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871008	51871008	+	Silent	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:51871008A>T	ENST00000371497.5	+	2	1898	c.1011A>T	c.(1009-1011)acA>acT	p.T337T	TSHZ2_ENST00000329613.6_Silent_p.T334T|TSHZ2_ENST00000603338.2_Silent_p.T334T	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	337					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ATTCAACCACAGGATCTTTTG	0.498000													15	80					0	0	0.004990	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457979	45457979	+	RNA	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:45457979G>T	ENST00000548424.1	+	0	448																											TGCTGTCACAGCCCAAGATCC	0.453000													8	52					2.74318e-10	4.75296e-10	0.006214	1	0
ADH1B	125	broad.mit.edu	37	4	100237122	100237122	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:100237122A>T	ENST00000305046.8	-	5	567	c.500T>A	c.(499-501)cTg>cAg	p.L167Q	ADH1B_ENST00000394887.3_Missense_Mutation_p.L127Q			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	167					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GACTTTCTCCAGGGGCGAGGC	0.522000													8	81					0	0	0.003080	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1																						TCACTGACATCGAAGGCTGCC	0.632000													3	11					0	0	0.000248	0	0
CCDC147	159686	broad.mit.edu	37	10	106128258	106128258	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:106128258G>T	ENST00000369704.3	+	6	1004	c.870G>T	c.(868-870)caG>caT	p.Q290H	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	290										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGAATGAACAGCACAGTTTGG	0.438000													7	24					1.26484e-09	2.12595e-09	0.003080	1	0
SLC26A10	65012	broad.mit.edu	37	12	58019026	58019026	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:58019026G>T	ENST00000320442.4	+	12	1697	c.1386G>T	c.(1384-1386)gaG>gaT	p.E462D	SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000379218.2_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	462	STAS.					integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TAGTTGCTGAGCCTGTCAGGG	0.552000													16	92					2.32078e-09	3.84326e-09	0.003163	1	0
CALCR	799	broad.mit.edu	37	7	93065450	93065450	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:93065450C>A	ENST00000359558.2	-	14	1364	c.1065G>T	c.(1063-1065)cgG>cgT	p.R355R	CALCR_ENST00000360249.4_Silent_p.R337R|CALCR_ENST00000426151.1_Silent_p.R321R|CALCR_ENST00000394441.1_Silent_p.R321R|CALCR_ENST00000421592.1_Silent_p.R337R	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	337					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TCACAAGCACCCGGACAATGT	0.453000													14	37					0.00316338	0.00360155	0.003163	1	0
NRCAM	4897	broad.mit.edu	37	7	107816895	107816895	+	Missense_Mutation	SNP	G	G	T	rs147348539		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:107816895G>T	ENST00000379028.3	-	27	3601	c.3131C>A	c.(3130-3132)gCa>gAa	p.A1044E	NRCAM_ENST00000351718.4_Missense_Mutation_p.A1028E|NRCAM_ENST00000425651.2_Missense_Mutation_p.A1044E|NRCAM_ENST00000413765.2_Missense_Mutation_p.A1025E|NRCAM_ENST00000379022.4_Missense_Mutation_p.A1044E|NRCAM_ENST00000379024.4_Missense_Mutation_p.A1025E			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1044	Fibronectin type-III 4.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGTTGTTACTGCTTCCTCTGT	0.308000													14	58					1.15088e-07	1.77911e-07	0.004007	1	0
WSCD2	9671	broad.mit.edu	37	12	108589825	108589825	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:108589825G>T	ENST00000332082.4	+	3	1034	c.216G>T	c.(214-216)ctG>ctT	p.L72L	WSCD2_ENST00000261400.3_Silent_p.L72L|WSCD2_ENST00000547525.1_Silent_p.L72L|WSCD2_ENST00000549903.1_Silent_p.L72L			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	72						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						ACATGCATCTGGGCAGAGGTT	0.622000													15	106					1.5739e-10	2.76973e-10	0.004007	1	0
FAR2	55711	broad.mit.edu	37	12	29460703	29460703	+	Silent	SNP	A	A	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:29460703A>C	ENST00000182377.4	+	5	926	c.658A>C	c.(658-660)Agg>Cgg	p.R220R	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Silent_p.R123R|FAR2_ENST00000536681.2_Silent_p.R220R	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	220					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						GCAAGAGAGCAGGAACCTGAA	0.483000													25	49					0	0	0.002780	0	0
DIO3	1735	broad.mit.edu	37	14	102027990	102027990	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:102027990C>T	ENST00000510508.4	+	1	303	c.157C>T	c.(157-159)Ctc>Ttc	p.L53F	DIO3_ENST00000359323.3_Missense_Mutation_p.L27F			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	27				Q -> K (in Ref. 1; AAB35616).	cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CCCGCGCTTCCTCGGCACGGC	0.672000													4	43					0	0	0.000602	0	0
KIF27	55582	broad.mit.edu	37	9	86530457	86530457	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:86530457C>A	ENST00000297814.2	-	2	193	c.50G>T	c.(49-51)tGc>tTc	p.C17F	KIF27_ENST00000334204.2_Missense_Mutation_p.C17F|KIF27_ENST00000413982.1_Missense_Mutation_p.C17F	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	17	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AGCTTCTTTGCAAAGCAGAGG	0.333000													10	25					0.000442599	0.000536532	0.006214	1	0
ADCY2	108	broad.mit.edu	37	5	7826866	7826866	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:7826866T>A	ENST00000338316.4	+	25	3247	c.3158T>A	c.(3157-3159)cTc>cAc	p.L1053H	ADCY2_ENST00000537121.1_Missense_Mutation_p.L873H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1053					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CTGCAGACCCTCGGATACACG	0.498000													6	42					0	0	0.001984	0	0
G2E3	55632	broad.mit.edu	37	14	31071081	31071081	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:31071081G>T	ENST00000206595.6	+	9	1012	c.858G>T	c.(856-858)agG>agT	p.R286S	G2E3_ENST00000438909.2_Missense_Mutation_p.R240S|G2E3_ENST00000553504.1_Missense_Mutation_p.R316S|G2E3_ENST00000544007.1_3'UTR	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	286					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGGAATGTAGGGGTATTATCT	0.343000													9	39					0.000274275	0.000337338	0.004482	1	0
PRR21	643905	broad.mit.edu	37	2	240982120	240982120	+	Missense_Mutation	SNP	G	G	T	rs71420284		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:240982120G>T	ENST00000408934.1	-	1	279	c.280C>A	c.(280-282)Cca>Aca	p.P94T		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	94	Pro-rich.							p.S86fs*291(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						AAGGGCCGTGGGTGAAGAGGC	0.612000													18	24					3.99206e-14	7.73174e-14	0.007413	1	0
MAP2	4133	broad.mit.edu	37	2	210559692	210559692	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:210559692A>G	ENST00000360351.4	+	7	3304	c.2798A>G	c.(2797-2799)aAa>aGa	p.K933R	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.K929R|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	933					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGTGTTGACAAAGAAGCATCC	0.428000													5	36					0	0	0.001168	0	0
REG1P	5969	broad.mit.edu	37	2	79363172	79363172	+	RNA	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:79363172G>A	ENST00000444841.1	-	0	1166																											TAGGAGACCAGGGACCCACTA	0.522000													5	14					0	0	0.001984	0	0
ZNF324B	388569	broad.mit.edu	37	19	58965140	58965140	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:58965140C>T	ENST00000336614.4	+	2	179	c.72C>T	c.(70-72)gcC>gcT	p.A24A	ZNF324B_ENST00000594214.1_Silent_p.A24A|ZNF324B_ENST00000545523.1_Silent_p.A24A|ZNF324B_ENST00000391696.1_5'UTR	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGCAGAGGGCCCTGTACCGCC	0.572000													9	55					0	0	0.004482	0	0
HDC	3067	broad.mit.edu	37	15	50534992	50534992	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:50534992G>T	ENST00000267845.3	-	12	1856	c.1454C>A	c.(1453-1455)cCt>cAt	p.P485H	HDC_ENST00000543581.1_Missense_Mutation_p.P452H	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	485					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CCCAACCCGAGGGCTGGGTTG	0.562000													6	20					5.9392e-07	8.75935e-07	0.001168	1	0
MRGPRX4	117196	broad.mit.edu	37	11	18195341	18195341	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:18195341C>A	ENST00000314254.3	+	1	958	c.538C>A	c.(538-540)Cca>Aca	p.P180T	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	180						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						AGATTTCATCCCAGTCGCGTG	0.522000													9	114					0.00448238	0.005069	0.004482	1	0
DMXL2	23312	broad.mit.edu	37	15	51834664	51834664	+	Missense_Mutation	SNP	C	C	A	rs149964881	by1000genomes	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:51834664C>A	ENST00000251076.5	-	9	1258	c.971G>T	c.(970-972)aGg>aTg	p.R324M	DMXL2_ENST00000449909.3_Missense_Mutation_p.R324M|DMXL2_ENST00000543779.2_Missense_Mutation_p.R324M	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	324						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AACAGATGACCTCCTCTGTCC	0.388000													6	28					0.00198382	0.00228173	0.001984	1	0
CCP110	9738	broad.mit.edu	37	16	19562548	19562548	+	Missense_Mutation	SNP	G	G	T	rs141344673	by1000genomes	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:19562548G>T	ENST00000381396.5	+	15	3264	c.3017G>T	c.(3016-3018)cGg>cTg	p.R1006L	CCP110_ENST00000396208.2_Silent_p.A977A|CCP110_ENST00000396212.2_Silent_p.A977A	NM_001199022.1	NP_001185951.1	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	1006					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CAAAGAAAGCGGCCAAATGTT	0.333000													22	113					1.9806e-07	3.03392e-07	0.002299	1	0
FN3KRP	79672	broad.mit.edu	37	17	80684833	80684833	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:80684833A>G	ENST00000269373.6	+	6	789	c.716A>G	c.(715-717)tAc>tGc	p.Y239C	FN3KRP_ENST00000535965.1_Missense_Mutation_p.Y189C	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	239							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GCTTCTTTCTACGGCCACTCG	0.562000													15	52					0	0	0.003163	0	0
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													5	56					0	0	0.004482	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644496	37644496	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:37644496C>A	ENST00000356958.4	-	5	563	c.305G>T	c.(304-306)tGg>tTg	p.W102L	ZNF585A_ENST00000355533.2_Missense_Mutation_p.W47L|ZNF585A_ENST00000392157.2_Missense_Mutation_p.W47L|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.W47L			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTATGGTCCCATAATTTCTC	0.313000													12	73					3.07112e-06	4.36695e-06	0.000978	1	0
UMOD	7369	broad.mit.edu	37	16	20352638	20352638	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:20352638C>A	ENST00000396134.2	-	8	1574	c.1451G>T	c.(1450-1452)gGc>gTc	p.G484V	UMOD_ENST00000396142.2_Missense_Mutation_p.G451V|UMOD_ENST00000396138.4_Missense_Mutation_p.G500V|UMOD_ENST00000570689.1_Missense_Mutation_p.G451V|UMOD_ENST00000302509.4_Missense_Mutation_p.G451V|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Missense_Mutation_p.G484V	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	451	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCCGGTCCCGCCCACTCTGAT	0.577000													5	29					1.23904e-05	1.7078e-05	0.000602	1	0
KRT5	3852	broad.mit.edu	37	12	52913586	52913586	+	Missense_Mutation	SNP	C	C	A	rs61726459		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:52913586C>A	ENST00000252242.4	-	1	885	c.495G>T	c.(493-495)agG>agT	p.R165S		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	165	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTCCTCGGTCCTCACCCTCT	0.522000													22	71					7.45023e-12	1.36452e-11	0.001523	1	0
SLC32A1	140679	broad.mit.edu	37	20	37357131	37357131	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:37357131T>C	ENST00000217420.1	+	2	1690	c.1427T>C	c.(1426-1428)tTt>tCt	p.F476S		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	476					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CCCAGCCTCTTTCACCTGCGC	0.637000													5	36					0	0	0.000602	0	0
CTNND2	1501	broad.mit.edu	37	5	11082891	11082891	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:11082891C>T	ENST00000304623.8	-	16	2894	c.2705G>A	c.(2704-2706)cGa>cAa	p.R902Q	CTNND2_ENST00000511377.1_Missense_Mutation_p.R811Q|CTNND2_ENST00000458100.2_Missense_Mutation_p.R469Q|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.R844Q|CTNND2_ENST00000503622.1_Missense_Mutation_p.R565Q	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	902					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATTGTCTATTCGGAGCAGCTC	0.547000													4	58					0	0	0.000248	0	0
NLRP12	91662	broad.mit.edu	37	19	54313203	54313203	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:54313203C>A	ENST00000324134.6	-	3	1878	c.1710G>T	c.(1708-1710)gaG>gaT	p.E570D	NLRP12_ENST00000391773.1_Missense_Mutation_p.E570D|NLRP12_ENST00000351894.4_Missense_Mutation_p.E570D|NLRP12_ENST00000354278.3_Missense_Mutation_p.E570D|NLRP12_ENST00000391772.1_Missense_Mutation_p.E570D|NLRP12_ENST00000391775.3_Missense_Mutation_p.E570D|NLRP12_ENST00000345770.5_Missense_Mutation_p.E570D|NLRP12_ENST00000535162.1_Missense_Mutation_p.E570D	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	570					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGCTCCTGGTCTCCTCGTTCA	0.572000													14	74					1.52009e-12	2.82243e-12	0.003163	1	0
ZNF716	441234	broad.mit.edu	37	7	57528738	57528738	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:57528738G>T	ENST00000420713.1	+	4	683	c.571G>T	c.(571-573)Ggc>Tgc	p.G191C		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TAAAAACGATGGCAAATCATT	0.338000													3	14					0.004672	0.00521346	0.004672	1	0
UGT1A5	54579	broad.mit.edu	37	2	234622111	234622111	+	Silent	SNP	G	G	T	rs147117995	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:234622111G>T	ENST00000373414.3	+	1	474	c.474G>T	c.(472-474)gcG>gcT	p.A158A	UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron	NM_019078.1	NP_061951.1												p.A158A(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		ACCTCTGCGCGGCGGTGCTGG	0.493000													30	89					1.68575e-08	2.7247e-08	0.007291	1	0
POSTN	10631	broad.mit.edu	37	13	38154116	38154116	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:38154116G>C	ENST00000379747.4	-	12	1659	c.1542C>G	c.(1540-1542)agC>agG	p.S514R	POSTN_ENST00000541179.1_Missense_Mutation_p.S514R|POSTN_ENST00000379742.4_Missense_Mutation_p.S514R|POSTN_ENST00000379749.4_Missense_Mutation_p.S514R|POSTN_ENST00000541481.1_Missense_Mutation_p.S514R|POSTN_ENST00000379743.4_Missense_Mutation_p.S514R	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	514	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTTCAAGTAGGCTGAGGAAGG	0.398000													5	37					0	0	0.000602	0	0
ILDR2	387597	broad.mit.edu	37	1	166904624	166904624	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:166904624C>T	ENST00000271417.3	-	6	849	c.794G>A	c.(793-795)gGa>gAa	p.G265E	ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.G265E|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.G246E|ILDR2_ENST00000526687.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	265						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGGGGCTCCTCCCAAAGGGAC	0.597000													9	56					0	0	0.006214	0	0
CLDN16	10686	broad.mit.edu	37	3	190120208	190120208	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:190120208C>T	ENST00000264734.2	+	2	655	c.407C>T	c.(406-408)tCc>tTc	p.S136F	CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	136					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GAGTACGATTCCATACTTGCG	0.483000													8	57					0	0	0.006214	0	0
UGT2A3	79799	broad.mit.edu	37	4	69795685	69795685	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:69795685G>C	ENST00000251566.4	-	6	1460	c.1430C>G	c.(1429-1431)gCt>gGt	p.A477G	UGT2A3_ENST00000420231.2_Missense_Mutation_p.A188G	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	477						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTCATGGGCAGCTGATCGCAG	0.483000													32	72					0	0	0.002445	0	0
OR51S1	119692	broad.mit.edu	37	11	4870337	4870337	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:4870337C>A	ENST00000322101.2	-	1	177	c.102G>T	c.(100-102)tgG>tgT	p.W34C	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAATGTCCACCAGGAGGGTG	0.577000													22	54					2.37509e-13	4.52207e-13	0.001523	1	0
RUNX1T1	862	broad.mit.edu	37	8	93026891	93026891	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:93026891C>A	ENST00000523629.1	-	4	838	c.384G>T	c.(382-384)agG>agT	p.R128S	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R91S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R139S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R101S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R91S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R128S|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.R91S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R91S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R101S	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)	128	TAFH.				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)			TAGTAAGGAACCTTTTCAGCT	0.522000													16	49					3.45872e-05	4.67169e-05	0.004007	1	0
ENDOD1	23052	broad.mit.edu	37	11	94862606	94862606	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:94862606G>C	ENST00000278505.4	+	2	1484	c.1366G>C	c.(1366-1368)Gca>Cca	p.A456P		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	456						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				CAAGGACATTGCACTGGGCCT	0.522000													10	100					0	0	0.000978	0	0
ACSS3	79611	broad.mit.edu	37	12	81472166	81472166	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:81472166C>T	ENST00000548058.1	+	1	1177	c.267C>T	c.(265-267)ccC>ccT	p.P89P	ACSS3_ENST00000261206.3_Silent_p.P89P			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	89						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGTACAAGCCCTGGACCAAAA	0.602000													6	43					0	0	0.001168	0	0
BAHD1	22893	broad.mit.edu	37	15	40751539	40751539	+	Silent	SNP	C	C	T	rs138741325		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:40751539C>T	ENST00000561234.1	+	2	1135	c.876C>T	c.(874-876)tcC>tcT	p.S292S	BAHD1_ENST00000560846.1_Silent_p.S292S|BAHD1_ENST00000416165.1_Silent_p.S292S			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	292	Pro-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GTGGGCCATCCGTCCAGCCAT	0.662000													3	34					0	0	0.004672	0	0
GDPD2	54857	broad.mit.edu	37	X	69647065	69647065	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:69647065G>T	ENST00000453994.2	+	9	1142	c.781G>T	c.(781-783)Gtc>Ttc	p.V261F	GDPD2_ENST00000374382.3_Missense_Mutation_p.V261F|GDPD2_ENST00000538649.1_Missense_Mutation_p.V182F|GDPD2_ENST00000536730.1_Missense_Mutation_p.V182F|GDPD2_ENST00000472623.1_3'UTR	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	261	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					TGATGTGATGGTCAGGTGAGG	0.582000													5	29					1.024e-07	1.60506e-07	0.000602	1	0
FAM159A	348378	broad.mit.edu	37	1	53122650	53122650	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:53122650A>T	ENST00000517870.1	+	3	661	c.511A>T	c.(511-513)Att>Ttt	p.I171F	FAM159A_ENST00000401050.3_Intron	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	171						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						CACCAGTGACATTCCAGGCAG	0.542000													4	141					0	0	0.000602	0	0
CDH6	1004	broad.mit.edu	37	5	31302382	31302382	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:31302382G>T	ENST00000265071.2	+	6	1241	c.976G>T	c.(976-978)Gaa>Taa	p.E326*	CDH6_ENST00000514738.1_Nonsense_Mutation_p.E271*	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	326	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGAAACCCAGGAAGGGATTAT	0.453000													5	47					0.000602214	0.000718394	0.000602	1	0
SBF2	81846	broad.mit.edu	37	11	10011043	10011043	+	Splice_Site	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:10011043C>A	ENST00000256190.8	-	13	1533		c.e13+1			NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2						myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TACTTACTTACATTTTTGAAT	0.333000													14	25					2.32078e-09	3.84326e-09	0.003163	1	0
PTBP2	58155	broad.mit.edu	37	1	97243402	97243402	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:97243402A>T	ENST00000236228.6	+	7	690	c.608A>T	c.(607-609)aAg>aTg	p.K203M	PTBP2_ENST00000370198.1_Missense_Mutation_p.K203M|PTBP2_ENST00000541987.1_Missense_Mutation_p.K172M|PTBP2_ENST00000426398.2_Missense_Mutation_p.K203M|PTBP2_ENST00000394184.3_Missense_Mutation_p.K214M|PTBP2_ENST00000370197.1_Missense_Mutation_p.K203M|PTBP2_ENST00000482253.1_3'UTR	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	203	RRM 2.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		ATATTTTCTAAGTTTGGTGCT	0.269000													5	39					0	0	0.001168	0	0
ACAD11	84129	broad.mit.edu	37	3	132294735	132294735	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:132294735G>T	ENST00000264990.6	-	17	2853	c.1882C>A	c.(1882-1884)Ctt>Att	p.L628I	ACAD11_ENST00000545291.1_Missense_Mutation_p.L153I|ACAD11_ENST00000355458.3_Intron	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CCAGGTCCAAGGCGGCCTTGG	0.478000													10	76					1.58986e-06	2.2995e-06	0.008291	1	0
TRPM3	80036	broad.mit.edu	37	9	73225584	73225584	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:73225584G>T	ENST00000377110.2	-	18	2815	c.2572C>A	c.(2572-2574)Ctc>Atc	p.L858I	TRPM3_ENST00000360823.2_Missense_Mutation_p.L720I|TRPM3_ENST00000396280.5_Missense_Mutation_p.L707I|TRPM3_ENST00000357533.2_Missense_Mutation_p.L862I|TRPM3_ENST00000377105.1_Missense_Mutation_p.L717I|TRPM3_ENST00000423814.3_Missense_Mutation_p.L885I|TRPM3_ENST00000377106.1_Missense_Mutation_p.L730I|TRPM3_ENST00000408909.2_Missense_Mutation_p.L717I|TRPM3_ENST00000377111.2_Missense_Mutation_p.L858I|TRPM3_ENST00000396285.1_Missense_Mutation_p.L705I|TRPM3_ENST00000396292.4_Missense_Mutation_p.L730I|TRPM3_ENST00000358082.3_Missense_Mutation_p.L720I	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	883						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TTTCTGCCGAGGGGGATTAAC	0.473000													14	60					1.5842e-08	2.57289e-08	0.001855	1	0
EP400	57634	broad.mit.edu	37	12	132490798	132490798	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:132490798C>T	ENST00000333577.4	+	15	3294	c.3185C>T	c.(3184-3186)gCg>gTg	p.A1062V	EP400_ENST00000330386.6_Missense_Mutation_p.A1026V|EP400_ENST00000332482.4_Missense_Mutation_p.A989V|EP400_ENST00000389562.2_Missense_Mutation_p.A1025V|EP400_ENST00000389561.2_Missense_Mutation_p.A1026V			Q96L91	EP400_HUMAN	E1A binding protein p400	1062	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.A1025V(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GACGTCACTGCGGTGGCTGAA	0.552000													14	45					0	0	0.001855	0	0
MYO1C	4641	broad.mit.edu	37	17	1384169	1384169	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:1384169A>G	ENST00000359786.5	-	6	962	c.638T>C	c.(637-639)gTg>gCg	p.V213A	MYO1C_ENST00000545534.2_Missense_Mutation_p.V189A|MYO1C_ENST00000438665.2_Missense_Mutation_p.V194A|MYO1C_ENST00000573198.1_5'UTR|MYO1C_ENST00000575158.1_Missense_Mutation_p.V178A|MYO1C_ENST00000361007.2_Missense_Mutation_p.V178A	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	213	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GTGGCCACCCACGGGGGCACC	0.632000													5	62					0	0	0.004482	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712911	70712911	+	RNA	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:70712911A>T	ENST00000530196.1	-	0	1607					NR_003951.1																						CGTCCTGCACATATCTATCTT	0.448000													5	37					0	0	0.000602	0	0
ANKEF1	63926	broad.mit.edu	37	20	10036234	10036234	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:10036234G>A	ENST00000378380.3	+	10	2586	c.2257G>A	c.(2257-2259)Gac>Aac	p.D753N	SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.D753N|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		GGTGGACTTCGACGATTTTAT	0.438000													14	38					0	0	0.001855	0	0
FAT2	2196	broad.mit.edu	37	5	150901610	150901610	+	Missense_Mutation	SNP	G	G	T	rs142141788	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:150901610G>T	ENST00000261800.5	-	18	10556	c.10544C>A	c.(10543-10545)aCg>aAg	p.T3515K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3515	Cadherin 31.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGGACAGACGTCAAAGACGA	0.562000													5	9					3.59834e-05	4.79304e-05	0.001168	1	0
RBBP7	5931	broad.mit.edu	37	X	16870189	16870189	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:16870189G>T	ENST00000380087.2	-	9	1380	c.1020C>A	c.(1018-1020)cgC>cgA	p.R340R	RBBP7_ENST00000404022.1_Silent_p.R331R|RBBP7_ENST00000380084.4_Silent_p.R384R			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	340					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					ACACATTCAGGCGGCGGTCAG	0.383000													46	120					1.46357e-32	3.04459e-32	0.003610	1	0
DUSP8	1850	broad.mit.edu	37	11	1580211	1580211	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:1580211G>A	ENST00000397374.3	-	4	572	c.445C>T	c.(445-447)Ctc>Ttc	p.L149F	DUSP8_ENST00000528778.1_5'UTR|DUSP8_ENST00000331588.4_Missense_Mutation_p.L149F	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	149					inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GGCTGGGAGAGGCTCATGGGT	0.662000													4	24					0	0	0.000248	0	0
KLKB1	3818	broad.mit.edu	37	4	187179309	187179309	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:187179309G>T	ENST00000264690.6	+	15	2047	c.1860G>T	c.(1858-1860)tgG>tgT	p.W620C	KLKB1_ENST00000513864.1_3'UTR	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	620	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ACATGGACTGGATTTTAGAGA	0.502000													12	38					7.03913e-09	1.14876e-08	0.001368	1	0
KCNN2	3781	broad.mit.edu	37	5	113698508	113698508	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:113698508G>A	ENST00000512097.3	+	2	1054	c.36G>A	c.(34-36)cgG>cgA	p.R12R	KCNN2_ENST00000264773.3_Silent_p.R12R			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	12						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		GCGTCATGCGGCCGCTCAGCA	0.701000													4	18					0	0	0.000248	0	0
KRT34	3885	broad.mit.edu	37	17	39537424	39537424	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:39537424C>A	ENST00000394001.1	-	3	628	c.598G>T	c.(598-600)Gac>Tac	p.D200Y		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	200	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CTGTTGATGTCCGACTCCACC	0.567000													12	53					0.000978159	0.00115057	0.000978	1	0
KCNK10	54207	broad.mit.edu	37	14	88651918	88651918	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:88651918C>A	ENST00000340700.5	-	7	2029	c.1578G>T	c.(1576-1578)cgG>cgT	p.R526R	KCNK10_ENST00000319231.5_Silent_p.R531R|KCNK10_ENST00000312350.5_Silent_p.R531R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	526					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCTCCGGCTCCCGGTCTTTGG	0.478000													12	62					1.08611e-07	1.69062e-07	0.000978	1	0
USH2A	7399	broad.mit.edu	37	1	216420207	216420207	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:216420207G>T	ENST00000366943.2	-	13	2915	c.2529C>A	c.(2527-2529)ctC>ctA	p.L843L	USH2A_ENST00000366942.3_Silent_p.L843L|USH2A_ENST00000307340.3_Silent_p.L843L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	843	Laminin EGF-like 6.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.L843L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGGCAGACAGAGGAAAGAAT	0.443000										HNSCC(13;0.011)			25	96					6.32553e-13	1.1909e-12	0.004656	1	0
OTOP1	133060	broad.mit.edu	37	4	4199745	4199745	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:4199745G>T	ENST00000296358.4	-	5	840	c.816C>A	c.(814-816)ccC>ccA	p.P272P		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	272					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTATGTTGAAGGGGTAGAGGT	0.532000													9	36					1.76689e-08	2.83544e-08	0.006214	1	0
BPNT1	10380	broad.mit.edu	37	1	220232314	220232314	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:220232314C>A	ENST00000469520.2	-	10	1248	c.799G>T	c.(799-801)Ggg>Tgg	p.G267W	BPNT1_ENST00000354807.3_Missense_Mutation_p.G282W|BPNT1_ENST00000544404.1_Missense_Mutation_p.G212W|BPNT1_ENST00000322067.7_Missense_Mutation_p.G267W|BPNT1_ENST00000414869.2_Missense_Mutation_p.G231W			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	267					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		AGAACATTCCCATGGATATCG	0.393000													6	73					3.59834e-05	4.79304e-05	0.001168	1	0
EVI2B	2124	broad.mit.edu	37	17	29632168	29632168	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:29632168G>T	ENST00000330927.4	-	2	614	c.460C>A	c.(460-462)Cag>Aag	p.Q154K	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Missense_Mutation_p.Q154K|EVI2B_ENST00000544462.1_Missense_Mutation_p.Q169K	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	154						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		GAAGGGATCTGGACAGATGAT	0.403000													22	122					1.9806e-07	3.03392e-07	0.002299	1	0
ZNF260	339324	broad.mit.edu	37	19	37005059	37005059	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:37005059C>A	ENST00000523638.1	-	3	2203	c.1082G>T	c.(1081-1083)gGt>gTt	p.G361V	ZNF260_ENST00000593142.1_Missense_Mutation_p.G361V|ZNF260_ENST00000592282.1_Missense_Mutation_p.G361V|ZNF260_ENST00000588993.1_Missense_Mutation_p.G361V	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	361					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TTCATTACAACCATAGGGTTT	0.438000													13	53					0.000219431	0.000274391	0.002450	1	0
COL25A1	84570	broad.mit.edu	37	4	109769934	109769934	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:109769934G>T	ENST00000399132.1	-	27	1945	c.1415C>A	c.(1414-1416)cCa>cAa	p.P472Q	COL25A1_ENST00000399126.1_Missense_Mutation_p.P472Q|COL25A1_ENST00000399127.1_Missense_Mutation_p.P445Q	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	472	Collagen-like 6.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ATCCATTCCTGGGATTCCTGG	0.353000													7	29					2.74318e-10	4.75296e-10	0.006214	1	0
TRBV2	28620	broad.mit.edu	37	7	142000796	142000796	+	RNA	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:142000796G>T	ENST00000455382.2	+	0	50																											GCTAGGAAAGGCCTCATTCCT	0.517000													5	30					0.000602214	0.000718394	0.000602	1	0
PRDM9	56979	broad.mit.edu	37	5	23527018	23527018	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:23527018C>T	ENST00000296682.3	+	11	2003	c.1821C>T	c.(1819-1821)ccC>ccT	p.P607P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	607					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGAGAAGCCCTATGTCTGCA	0.607000										HNSCC(3;0.000094)			7	88					0	0	0.004482	0	0
SYNE3	161176	broad.mit.edu	37	14	95884365	95884365	+	Splice_Site	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:95884365T>C	ENST00000334258.5	-	17	2742		c.e17-2		SYNE3_ENST00000557275.1_Splice_Site|SYNE3_ENST00000554873.1_Splice_Site	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CCGCCGAGTCTGCGGAACCAA	0.667000													10	35					0	0	0.006214	0	0
KTN1	3895	broad.mit.edu	37	14	56104545	56104545	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:56104545C>T	ENST00000416613.1	+	11	1837	c.1765C>T	c.(1765-1767)Cat>Tat	p.H589Y	KTN1_ENST00000395314.3_Missense_Mutation_p.H589Y|KTN1_ENST00000395311.1_Missense_Mutation_p.H589Y|KTN1_ENST00000413890.2_Missense_Mutation_p.H589Y|KTN1_ENST00000395309.3_Missense_Mutation_p.H589Y|KTN1_ENST00000438792.2_Missense_Mutation_p.H589Y|KTN1_ENST00000395308.1_Missense_Mutation_p.H589Y			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	589					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TCAGCAGTTCCATTCCCAGAT	0.373000			T	RET	papillary thryoid								15	50					0	0	0.004990	0	0
XKR6	286046	broad.mit.edu	37	8	10756321	10756321	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:10756321C>A	ENST00000416569.2	-	3	1093	c.1067G>T	c.(1066-1068)gGg>gTg	p.G356V	XKR6_ENST00000304437.2_Missense_Mutation_p.G77V	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	356						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GATGATGGCCCCTCTGTAGCT	0.542000													11	76					5.16669e-11	9.21256e-11	0.000978	1	0
FANCM	57697	broad.mit.edu	37	14	45642334	45642334	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:45642334C>T	ENST00000267430.5	+	13	2322	c.2237C>T	c.(2236-2238)aCa>aTa	p.T746I	FANCM_ENST00000542564.2_Missense_Mutation_p.T720I	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	746					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CCTTTGCCTACACATCAAGTT	0.388000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				12	42					0	0	0.000978	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202446879	202446879	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:202446879T>C	ENST00000439140.1	-	5	622	c.578A>G	c.(577-579)aAt>aGt	p.N193S	ALS2CR11_ENST00000439802.1_Missense_Mutation_p.N193S|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.N193S|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.N193S	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	193										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TTTTTCTCTATTGTCATATTG	0.299000													7	65					0	0	0.003080	0	0
FIP1L1	81608	broad.mit.edu	37	4	54319267	54319267	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:54319267G>T	ENST00000337488.6	+	16	1660	c.1466G>T	c.(1465-1467)cGt>cTt	p.R489L	FIP1L1_ENST00000358575.5_Missense_Mutation_p.R483L|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Missense_Mutation_p.R415L	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	489	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GAGAGGGAGCGTGATCACAGT	0.438000			T	PDGFRA	idiopathic hypereosinophilic syndrome								8	21					0.00621372	0.00688823	0.006214	1	0
WBSCR17	64409	broad.mit.edu	37	7	70885970	70885970	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:70885970G>T	ENST00000333538.5	+	5	1475	c.841G>T	c.(841-843)Gac>Tac	p.D281Y	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	281						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CATCAAACAGGACAACTTTGA	0.557000													43	97					3.83281e-39	8.02271e-39	0.002522	1	0
COL3A1	1281	broad.mit.edu	37	2	189859478	189859478	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:189859478G>T	ENST00000304636.3	+	20	1546	c.1376G>T	c.(1375-1377)gGa>gTa	p.G459V	COL3A1_ENST00000317840.5_Missense_Mutation_p.G459V	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	459	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGTGTTCCAGGAGCTAAAGGC	0.433000													5	33					0.00116845	0.00136487	0.001168	1	0
PCLO	27445	broad.mit.edu	37	7	82581839	82581839	+	Silent	SNP	T	T	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:82581839T>G	ENST00000423517.2	-	5	8767	c.8430A>C	c.(8428-8430)acA>acC	p.T2810T	PCLO_ENST00000333891.8_Silent_p.T2810T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2741					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTAGGCTTTCTGTGCCTGTAG	0.473000													6	45					0	0	0.001168	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215674	20215674	+	Missense_Mutation	SNP	C	C	A	rs4494468		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:20215674C>A	ENST00000331723.1	+	1	88	c.88C>A	c.(88-90)Cta>Ata	p.L30I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCTTCTTACTATTTTTGTT	0.378000													23	80					3.5997e-14	7.01213e-14	0.002299	1	0
SCN4A	6329	broad.mit.edu	37	17	62018249	62018249	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:62018249G>T	ENST00000578147.1	-	24	5469	c.5393C>A	c.(5392-5394)gCa>gAa	p.A1798E	SCN4A_ENST00000435607.1_Missense_Mutation_p.A1798E			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1798					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGCGTCCCCTGCCTCGCCCTT	0.667000													13	20					9.05144e-12	1.6533e-11	0.001855	1	0
ACTN2	88	broad.mit.edu	37	1	236924451	236924451	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:236924451T>C	ENST00000366578.4	+	20	2670	c.2504T>C	c.(2503-2505)tTc>tCc	p.F835S	ACTN2_ENST00000542672.1_Missense_Mutation_p.F835S|ACTN2_ENST00000546208.1_Missense_Mutation_p.F329S	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	835					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ATCGCCTCCTTCCGGATCCTG	0.507000													9	47					0	0	0.008291	0	0
KDR	3791	broad.mit.edu	37	4	55979605	55979605	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:55979605G>T	ENST00000263923.4	-	7	1137	c.842C>A	c.(841-843)tCt>tAt	p.S281Y		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	281	Ig-like C2-type 3.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTCACTCCCAGACTGGGTTTT	0.423000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			7	35					8.12818e-05	0.000103758	0.001984	1	0
SEC31B	25956	broad.mit.edu	37	10	102256062	102256062	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:102256062C>A	ENST00000370345.3	-	18	2360	c.2263G>T	c.(2263-2265)Ggc>Tgc	p.G755C		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	755					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GCCAGGCTGCCCTGGGCTGCC	0.572000													5	45					1.23904e-05	1.7078e-05	0.000602	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110447520	110447520	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:110447520G>T	ENST00000378402.5	+	29	3546	c.3442G>T	c.(3442-3444)Gag>Tag	p.E1148*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1148	IPT/TIG 4.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGGGGTGAAGAGTTCTACTT	0.438000										HNSCC(38;0.096)			44	102					1.06522e-23	2.1889e-23	0.003214	1	0
OR2H1	26716	broad.mit.edu	37	6	29429607	29429607	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:29429607C>A	ENST00000377136.1	+	4	526	c.61C>A	c.(61-63)Ctg>Atg	p.L21M	OR2H1_ENST00000396792.2_Missense_Mutation_p.L21M|OR2H1_ENST00000442615.1_Missense_Mutation_p.L21M|OR2H1_ENST00000377132.1_Missense_Mutation_p.L21M|OR2H1_ENST00000473369.1_Intron|OR2H1_ENST00000377133.1_Missense_Mutation_p.L21M			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						ACACCCAGCACTGGAAAGGAC	0.537000													16	155					1.45105e-14	2.83481e-14	0.006122	1	0
ZCCHC14	23174	broad.mit.edu	37	16	87445200	87445200	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:87445200G>C	ENST00000268616.4	-	12	2933	c.2716C>G	c.(2716-2718)Cta>Gta	p.L906V		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	906					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TAACAAGATAGGTTCCCGCTC	0.607000													14	77					0	0	0.001855	0	0
ZNF733P	643955	broad.mit.edu	37	7	62758685	62758685	+	RNA	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:62758685C>A	ENST00000331425.6	-	0	192					NR_003952.1																						CATCACATGTCTATATAAATT	0.378000													31	69					9.65021e-13	1.80173e-12	0.002096	1	0
ITGAX	3687	broad.mit.edu	37	16	31382660	31382660	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:31382660G>T	ENST00000268296.4	+	16	1968	c.1847G>T	c.(1846-1848)aGa>aTa	p.R616I	ITGAX_ENST00000562522.1_Missense_Mutation_p.R616I	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	616					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CGCAGGACCAGACCTGTGCTC	0.652000													5	16					3.59834e-05	4.79304e-05	0.001168	1	0
ADCY1	107	broad.mit.edu	37	7	45719354	45719354	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:45719354G>T	ENST00000297323.7	+	11	1967	c.1945G>T	c.(1945-1947)Gtg>Ttg	p.V649L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	649					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CTGCTTCCTGGTGGCCTGTGT	0.557000													20	36					7.87624e-14	1.52109e-13	0.002780	1	0
FRAS1	80144	broad.mit.edu	37	4	79396752	79396752	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:79396752G>T	ENST00000264895.6	+	54	8283	c.7843G>T	c.(7843-7845)Gct>Tct	p.A2615S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2610	Calx-beta 1.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGTAGAGTATGCTGGCCAGGT	0.577000													24	46					3.96558e-24	8.17371e-24	0.004656	1	0
PCDHA3	56145	broad.mit.edu	37	5	140182910	140182910	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:140182910C>A	ENST00000522353.2	+	1	2128	c.2128C>A	c.(2128-2130)Ctg>Atg	p.L710M	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.L710M|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGTCCAGTCTGTTGGTGCT	0.657000													9	99					0.000442599	0.000536532	0.006214	1	0
SYCE1	93426	broad.mit.edu	37	10	135368920	135368920	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:135368920G>T	ENST00000368517.3	-	12	883	c.745C>A	c.(745-747)Cat>Aat	p.H249N	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_Missense_Mutation_p.H249N|SYCE1_ENST00000343131.5_Missense_Mutation_p.H285N	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	285					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGCATTCCATGCTTTTCCAGC	0.557000													15	48					1.5739e-10	2.76973e-10	0.004007	1	0
OR8H3	390152	broad.mit.edu	37	11	55890132	55890132	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:55890132C>A	ENST00000313472.3	+	1	284	c.284C>A	c.(283-285)aCg>aAg	p.T95K		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ATTTCCTTCACGGGCTGCTTT	0.433000													20	291					1.01871e-10	1.80213e-10	0.008871	1	0
CYP11B2	1585	broad.mit.edu	37	8	143993975	143993975	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:143993975C>A	ENST00000323110.2	-	8	1371	c.1369G>T	c.(1369-1371)Gag>Tag	p.E457*		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	457					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	ATCTCTGCCTCTGCCAGGCGC	0.692000									Familial Hyperaldosteronism type I				6	38					0.000442599	0.000536532	0.006214	1	0
GLRA2	2742	broad.mit.edu	37	X	14548215	14548215	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:14548215G>T	ENST00000218075.4	+	1	566	c.36G>T	c.(34-36)ttG>ttT	p.L12F	GLRA2_ENST00000443437.2_5'UTR|GLRA2_ENST00000355020.4_Missense_Mutation_p.L12F	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	12					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TGACAGCCTTGTTTGCATTTT	0.368000													11	51					4.36969e-10	7.49407e-10	0.001855	1	0
OBSCN	84033	broad.mit.edu	37	1	228431091	228431091	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:228431091A>G	ENST00000570156.2	+	11	3487	c.3413A>G	c.(3412-3414)aAg>aGg	p.K1138R	OBSCN_ENST00000422127.1_Missense_Mutation_p.K1046R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.K1046R|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	74	Ig-like 11.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGCAGGCAAGACAGATGCC	0.567000													6	30					0	0	0.001168	0	0
CAPS	828	broad.mit.edu	37	19	5915067	5915067	+	Silent	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:5915067C>G	ENST00000588776.1	+	4	3003	c.636C>G	c.(634-636)gcC>gcG	p.A212A	CAPS_ENST00000222125.5_Silent_p.A126A|CAPS_ENST00000452990.2_Silent_p.A126A			Q13938	CAYP1_HUMAN	calcyphosine	126					intracellular signal transduction	cytoplasm	calcium ion binding			cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	4						GTGGCCGTGCCCACCCCAAGG	0.677000													10	73					0	0	0.000978	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140763824	140763824	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:140763824C>T	ENST00000518325.1	+	1	1358	c.1358C>T	c.(1357-1359)cCc>cTc	p.P453L	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCACCTTCCCCCACTCATCC	0.527000													6	38					0	0	0.001168	0	0
FUT3	2525	broad.mit.edu	37	19	5844780	5844780	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:5844780A>G	ENST00000303225.6	-	3	705	c.71T>C	c.(70-72)cTg>cCg	p.L24P	FUT3_ENST00000458379.2_Missense_Mutation_p.L24P|FUT3_ENST00000589620.1_Missense_Mutation_p.L24P|FUT3_ENST00000589918.1_Missense_Mutation_p.L24P	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	24					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						AGCCACCAGCAGCTGAAATAG	0.607000													4	17					0	0	0.000248	0	0
PDE4C	5143	broad.mit.edu	37	19	18332994	18332994	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:18332994A>G	ENST00000355502.3	-	6	1253	c.382T>C	c.(382-384)Tat>Cat	p.Y128H	PDE4C_ENST00000594465.2_Missense_Mutation_p.Y128H|PDE4C_ENST00000262805.11_Missense_Mutation_p.Y96H|PDE4C_ENST00000447275.2_Missense_Mutation_p.Y22H|PDE4C_ENST00000594617.2_Missense_Mutation_p.Y128H			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	128					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GAGAGTTCATAGTCGCTATCT	0.642000													4	23					0	0	0.000248	0	0
DST	667	broad.mit.edu	37	6	56481397	56481397	+	Missense_Mutation	SNP	T	T	C	rs112473525	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:56481397T>C	ENST00000370765.6	-	24	6975	c.6868A>G	c.(6868-6870)Aga>Gga	p.R2290G	DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1630					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGGAAAACTCTTGTGTTGCTG	0.423000													23	52					0	0	0.002299	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818117	200818117	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:200818117G>T	ENST00000358823.2	+	11	2490	c.2220G>T	c.(2218-2220)cgG>cgT	p.R740R	CAMSAP2_ENST00000413307.2_Silent_p.R724R|CAMSAP2_ENST00000236925.4_Silent_p.R751R	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	751						cytoplasm|microtubule	protein binding										CACAGGGACGGGACACTACCC	0.458000													7	40					0.000673444	0.000800531	0.008291	1	0
AGTPBP1	23287	broad.mit.edu	37	9	88236124	88236124	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:88236124T>C	ENST00000357081.3	-	15	2236	c.2092A>G	c.(2092-2094)Aac>Gac	p.N698D	AGTPBP1_ENST00000432218.1_Missense_Mutation_p.N536D|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.N658D|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.N710D			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	698					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TACTTTGGGTTATCCAAGTCA	0.259000													14	26					0	0	0.002450	0	0
SUSD5	26032	broad.mit.edu	37	3	33249344	33249344	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:33249344G>T	ENST00000309558.3	-	3	782	c.365C>A	c.(364-366)cCa>cAa	p.P122Q		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	122	Link.				cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACCAGGAACTGGGTTGCTCTC	0.458000													12	52					1.49906e-05	2.06197e-05	0.002450	1	0
AVPR1A	552	broad.mit.edu	37	12	63541318	63541318	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:63541318C>A	ENST00000299178.2	-	2	1183	c.1078G>T	c.(1078-1080)Gtt>Ttt	p.V360F		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	360					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	AAGCTTTGAACACAGTCTTGA	0.398000													10	55					0.000442599	0.000536532	0.006214	1	0
CSMD1	64478	broad.mit.edu	37	8	2807764	2807764	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:2807764G>T	ENST00000520002.1	-	68	10861	c.10306C>A	c.(10306-10308)Cta>Ata	p.L3436I	CSMD1_ENST00000602557.1_Missense_Mutation_p.L3436I|CSMD1_ENST00000542608.1_Missense_Mutation_p.L3258I|CSMD1_ENST00000400186.3_Missense_Mutation_p.L3259I|CSMD1_ENST00000537824.1_Missense_Mutation_p.L3435I|CSMD1_ENST00000602723.1_Missense_Mutation_p.L3259I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3436						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TAACCATCTAGTCCCCAGTTG	0.433000													10	78					0.000978159	0.00115057	0.000978	1	0
PROKR1	10887	broad.mit.edu	37	2	68882079	68882079	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:68882079T>A	ENST00000303786.3	+	3	973	c.553T>A	c.(553-555)Ttg>Atg	p.L185M	PROKR1_ENST00000394342.2_Missense_Mutation_p.L185M			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	185						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTGATTGCCTTGGTGTGGAC	0.562000													11	53					0	0	0.001368	0	0
DYSF	8291	broad.mit.edu	37	2	71780291	71780291	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:71780291A>T	ENST00000258104.3	+	20	2180	c.1903A>T	c.(1903-1905)Act>Tct	p.T635S	DYSF_ENST00000413539.2_Missense_Mutation_p.T666S|DYSF_ENST00000409651.1_Missense_Mutation_p.T667S|DYSF_ENST00000410020.3_Missense_Mutation_p.T653S|DYSF_ENST00000409582.3_Missense_Mutation_p.T652S|DYSF_ENST00000409366.1_Missense_Mutation_p.T636S|DYSF_ENST00000409762.1_Missense_Mutation_p.T652S|DYSF_ENST00000409744.1_Missense_Mutation_p.T622S|DYSF_ENST00000410041.1_Missense_Mutation_p.T653S|DYSF_ENST00000429174.2_Missense_Mutation_p.T635S|DYSF_ENST00000394120.2_Missense_Mutation_p.T636S	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	635						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGCCTCCACCACTCAGTACAG	0.587000													9	45					0	0	0.000978	0	0
SORL1	6653	broad.mit.edu	37	11	121385030	121385030	+	Splice_Site	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:121385030G>A	ENST00000260197.7	+	8	1340	c.1211_splice	c.e8+1	p.R404_splice	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	404					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACCTTGGTGAGGTAAGGAGAC	0.507000													3	7					0	0	0.000248	0	0
EEPD1	80820	broad.mit.edu	37	7	36336765	36336765	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:36336765G>T	ENST00000242108.4	+	7	2197	c.1479G>T	c.(1477-1479)tgG>tgT	p.W493C	EEPD1_ENST00000534978.1_Missense_Mutation_p.W493C	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	493					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						ACAACATCTGGATCAGTAAAA	0.478000													7	28					5.18039e-06	7.31988e-06	0.003080	1	0
ATP8A2	51761	broad.mit.edu	37	13	26273477	26273477	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:26273477G>T	ENST00000381655.2	+	25	2520	c.2378G>T	c.(2377-2379)tGc>tTc	p.C793F	ATP8A2_ENST00000255283.8_Missense_Mutation_p.C753F|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	753					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCGGTCATATGCTGCAGGTAG	0.522000													7	14					0.00198382	0.00228173	0.001984	1	0
CPXM2	119587	broad.mit.edu	37	10	125639736	125639736	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:125639736C>G	ENST00000241305.3	-	2	548	c.394G>C	c.(394-396)Gtc>Ctc	p.V132L	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	132					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CTCTCTCTGACATCTTCACGG	0.557000													18	72					0	0	0.007413	0	0
PCK1	5105	broad.mit.edu	37	20	56140750	56140750	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:56140750A>T	ENST00000319441.4	+	10	1923	c.1759A>T	c.(1759-1761)Aag>Tag	p.K587*	PCK1_ENST00000543666.1_Nonsense_Mutation_p.K270*	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	587					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ATTCTGGGAGAAGGAGGTGGA	0.507000													7	20					0	0	0.003080	0	0
GRIN3A	116443	broad.mit.edu	37	9	104433161	104433161	+	Silent	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:104433161A>G	ENST00000361820.3	-	3	2133	c.1533T>C	c.(1531-1533)agT>agC	p.S511S		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	511					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGTGTAGCTTACTTGGATGTT	0.522000													25	50					0	0	0.003954	0	0
TDG	6996	broad.mit.edu	37	12	104379432	104379432	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:104379432A>T	ENST00000392872.3	+	9	1250	c.1016A>T	c.(1015-1017)gAg>gTg	p.E339V	TDG_ENST00000266775.9_Missense_Mutation_p.E335V|TDG_ENST00000542036.1_Missense_Mutation_p.E135V|TDG_ENST00000544861.1_Missense_Mutation_p.E196V	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	339					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	p.E339G(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		CCAGGTTATGAGGCAGCATAT	0.403000								Base excision repair (BER), DNA glycosylases					4	64					0	0	0.000248	0	0
MARC1	64757	broad.mit.edu	37	1	220986690	220986690	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:220986690G>T	ENST00000366910.5	+	7	1130	c.944G>T	c.(943-945)gGg>gTg	p.G315V	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MOSC1_HUMAN	mitochondrial amidoxime reducing component 1	315	MOSC.						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding										CCACTCTTTGGGCAGTATTTT	0.473000													37	88					1.60099e-16	3.20197e-16	0.004878	1	0
AOC1	26	broad.mit.edu	37	7	150553579	150553579	+	Silent	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:150553579C>G	ENST00000493429.1	+	4	605	c.21C>G	c.(19-21)gcC>gcG	p.A7A	AOC1_ENST00000467291.1_Silent_p.A7A|AOC1_ENST00000416793.2_Silent_p.A7A|AOC1_ENST00000360937.4_Silent_p.A7A					amine oxidase, copper containing 1																		TGGGCTGGGCCGTGGCTGCCA	0.607000													4	28					0	0	0.000248	0	0
MYOM2	9172	broad.mit.edu	37	8	2056576	2056576	+	Splice_Site	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:2056576G>T	ENST00000262113.4	+	24	3139		c.e24-1		MYOM2_ENST00000523438.1_Splice_Site	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2						muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTTCGTTTTAGAGCTCGAGCG	0.498000													7	58					0.00198382	0.00228173	0.001984	1	0
DBH	1621	broad.mit.edu	37	9	136501746	136501746	+	Missense_Mutation	SNP	G	G	T	rs78445536	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:136501746G>T	ENST00000393056.2	+	1	265	c.253G>T	c.(253-255)Gtc>Ttc	p.V85F		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	85	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CAAGGCTGGCGTCCTGTTTGG	0.617000													3	10					0.004672	0.00521346	0.004672	1	0
PPP2R3B	28227	broad.mit.edu	37	X	299548	299548	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:299548C>A	ENST00000390665.3	-	11	1453	c.1435G>T	c.(1435-1437)Gac>Tac	p.D479Y		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	479					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCTCGTGGTCGAGGTACTTC	0.632000													16	42					2.32078e-09	3.84326e-09	0.003163	1	0
KIRREL2	84063	broad.mit.edu	37	19	36350480	36350480	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:36350480G>T	ENST00000360202.5	+	5	818	c.620G>T	c.(619-621)cGg>cTg	p.R207L	KIRREL2_ENST00000262625.7_Missense_Mutation_p.R207L|KIRREL2_ENST00000586102.2_Intron|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R157L|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R207L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	207	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCCGGGCCCGGAGCCAGGCC	0.627000													11	60					1.08611e-07	1.69062e-07	0.000978	1	0
CDH10	1008	broad.mit.edu	37	5	24509888	24509888	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:24509888A>T	ENST00000264463.4	-	7	1550	c.1043T>A	c.(1042-1044)gTc>gAc	p.V348D		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	348	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTCTGCTTCGACTTTCAGAGT	0.378000										HNSCC(23;0.051)			4	36					0	0	0.000602	0	0
RNF157	114804	broad.mit.edu	37	17	74158669	74158669	+	Silent	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:74158669A>G	ENST00000269391.6	-	9	888	c.756T>C	c.(754-756)taT>taC	p.Y252Y	RNF157_ENST00000319945.6_Silent_p.Y252Y	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	252							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			TTTCAATTCCATAGATCTCCT	0.443000													10	21					0	0	0.008291	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132905741	132905741	+	Missense_Mutation	SNP	G	G	A	rs111770980	by1000genomes	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:132905741G>A	ENST00000409867.1	-	6	989	c.740C>T	c.(739-741)aCg>aTg	p.T247M	ANKRD30BL_ENST00000470729.1_5'UTR					ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						GCTTTCAGCCGTGTCAGGTGT	0.438000													3	19					0	0	0.000248	0	0
NLRP7	199713	broad.mit.edu	37	19	55450426	55450426	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:55450426C>A	ENST00000446217.1	-	6	2247	c.1845G>T	c.(1843-1845)gtG>gtT	p.V615V	NLRP7_ENST00000328092.5_Silent_p.V587V|NLRP7_ENST00000340844.2_Silent_p.V587V|NLRP7_ENST00000448121.2_Silent_p.V587V|NLRP7_ENST00000590030.1_Silent_p.V587V|NLRP7_ENST00000592784.1_Silent_p.V587V|NLRP7_ENST00000588756.1_Silent_p.V587V			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	587							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ACGGGGCCACCACCACCTTCG	0.488000													9	40					0.000274275	0.000337338	0.004482	1	0
PXDNL	137902	broad.mit.edu	37	8	52370149	52370149	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:52370149C>A	ENST00000356297.4	-	9	991	c.891G>T	c.(889-891)gaG>gaT	p.E297D	PXDNL_ENST00000543296.1_Missense_Mutation_p.E297D	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	297	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTTGGTCTGACTCTCTGGTGT	0.453000													6	80					8.12818e-05	0.000103758	0.001984	1	0
KCNA5	3741	broad.mit.edu	37	12	5154245	5154245	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:5154245C>A	ENST00000252321.3	+	1	1161	c.932C>A	c.(931-933)aCg>aAg	p.T311K		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	311						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TCTGGCCCTACGGTGGCACCG	0.711000													14	49					7.93312e-07	1.15985e-06	0.002450	1	0
FAT3	120114	broad.mit.edu	37	11	92498234	92498234	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:92498234C>A	ENST00000298047.6	+	5	4191	c.4174C>A	c.(4174-4176)Cct>Act	p.P1392T	RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000409404.2_Missense_Mutation_p.P1392T|FAT3_ENST00000525166.1_Missense_Mutation_p.P1242T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1392	Cadherin 13.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCTAACACCCCTCTGTGGTT	0.403000										TCGA Ovarian(4;0.039)			7	16					0.00307968	0.00351219	0.003080	1	0
ZEB2	9839	broad.mit.edu	37	2	145158817	145158817	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:145158817T>A	ENST00000558170.2	-	7	2049	c.865A>T	c.(865-867)Aag>Tag	p.K289*	ZEB2_ENST00000303660.4_Nonsense_Mutation_p.K289*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.K289*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.K265*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	289						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTGAAGGCCTTGCCACACTCT	0.438000													16	71					0	0	0.007413	0	0
PRR11	55771	broad.mit.edu	37	17	57275120	57275120	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:57275120G>A	ENST00000262293.4	+	9	1296	c.984G>A	c.(982-984)gtG>gtA	p.V328V	CTD-2510F5.6_ENST00000577660.1_Silent_p.V35V	NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	328										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TGACTCCAGTGATGACGCAGG	0.428000													6	63					0	0	0.003080	0	0
CDHR2	54825	broad.mit.edu	37	5	176017662	176017662	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:176017662C>A	ENST00000510636.1	+	28	3787	c.3513C>A	c.(3511-3513)acC>acA	p.T1171T	CDHR2_ENST00000261944.5_Silent_p.T1171T|CDHR2_ENST00000506348.1_Silent_p.T1171T	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1171					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGATCATGACCATGGCCTTCG	0.592000													4	45					1.23904e-05	1.7078e-05	0.000602	1	0
CSMD3	114788	broad.mit.edu	37	8	114388966	114388966	+	Splice_Site	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:114388966C>A	ENST00000343508.3	-	2	229		c.e2+1		CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000297405.5_Intron	NM_198124.1	NP_937757.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGATATCTACCTGAGGCTGT	0.547000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	59					5.9392e-07	8.75935e-07	0.001168	1	0
ANKRD12	23253	broad.mit.edu	37	18	9254231	9254231	+	Silent	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:9254231A>T	ENST00000383440.2	+	8	1154	c.897A>T	c.(895-897)gtA>gtT	p.V299V	ANKRD12_ENST00000400020.3_Silent_p.V299V|ANKRD12_ENST00000262126.3_Silent_p.V322V	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	322						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CTCAATCTGTAAATCCTTCTA	0.338000													7	41					0	0	0.003080	0	0
CPA2	1358	broad.mit.edu	37	7	129909638	129909638	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:129909638G>T	ENST00000222481.4	+	3	338	c.283G>T	c.(283-285)Gtg>Ttg	p.V95L		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	95					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					GATTGAAGACGTGCAGGTAAT	0.517000													11	21					3.86212e-05	5.11408e-05	0.008291	1	0
CCDC136	64753	broad.mit.edu	37	7	128454800	128454800	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:128454800C>G	ENST00000297788.4	+	15	3239	c.2872C>G	c.(2872-2874)Cag>Gag	p.Q958E	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000471729.1_3'UTR|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	958						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GGGGCAGCTGCAGTGCTGCCA	0.582000													3	24					0	0	0.004672	0	0
SRGAP1	57522	broad.mit.edu	37	12	64456799	64456799	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:64456799A>T	ENST00000355086.3	+	7	1428	c.904A>T	c.(904-906)Att>Ttt	p.I302F	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.I262F|SRGAP1_ENST00000357825.3_Missense_Mutation_p.I302F	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	302					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTTAGACATTATTGAGAATGC	0.453000													8	36					0	0	0.003080	0	0
POM121L12	285877	broad.mit.edu	37	7	53104079	53104079	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:53104079A>T	ENST00000408890.4	+	1	731	c.715A>T	c.(715-717)Agc>Tgc	p.S239C		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	239										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCTGAAGCCGAGCCTCGGCCC	0.647000													14	44					0	0	0.001855	0	0
NPTX2	4885	broad.mit.edu	37	7	98256612	98256612	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:98256612C>A	ENST00000265634.3	+	4	1189	c.1024C>A	c.(1024-1026)Cac>Aac	p.H342N		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	342	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GGCCCCCTGGCACCCCATCAA	0.657000													6	29					5.9392e-07	8.75935e-07	0.001168	1	0
PPEF1	5475	broad.mit.edu	37	X	18822024	18822024	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:18822024G>T	ENST00000361511.4	+	14	1574	c.1080G>T	c.(1078-1080)ctG>ctT	p.L360L	PPEF1_ENST00000349874.5_Intron|PPEF1_ENST00000359763.6_Silent_p.L307L|PPEF1_ENST00000544635.1_Silent_p.L295L|PPEF1_ENST00000543630.1_Intron	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	360	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TTGATATTCTGTGGAGTGATC	0.373000													29	57					3.90053e-15	7.66459e-15	0.002445	1	0
KCNH5	27133	broad.mit.edu	37	14	63416895	63416895	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:63416895G>C	ENST00000322893.7	-	7	1593	c.1325C>G	c.(1324-1326)aCa>aGa	p.T442R	KCNH5_ENST00000394968.1_Missense_Mutation_p.T384R|KCNH5_ENST00000420622.2_Missense_Mutation_p.T442R|KCNH5_ENST00000394964.2_Missense_Mutation_p.T384R	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	442					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTCCACATCTGTGGTAGGAGC	0.398000													11	33					0	0	0.000978	0	0
RYR1	6261	broad.mit.edu	37	19	38984999	38984999	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:38984999G>A	ENST00000355481.4	+	39	6413	c.6282G>A	c.(6280-6282)ctG>ctA	p.L2094L	RYR1_ENST00000360985.3_Silent_p.L2094L|RYR1_ENST00000359596.3_Silent_p.L2094L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2094	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAGGGTCCCTGCAGGAGCTGG	0.647000													9	30					0	0	0.006214	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894452	78894452	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:78894452C>A	ENST00000326828.5	-	5	916	c.532G>T	c.(532-534)Ggt>Tgt	p.G178C	CHRNA3_ENST00000348639.3_Missense_Mutation_p.G178C	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	178					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GACCAGGAACCGAACTTCATG	0.502000													22	108					1.66031e-10	2.89908e-10	0.003954	1	0
USP33	23032	broad.mit.edu	37	1	78180383	78180383	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:78180383T>C	ENST00000370793.1	-	20	2570	c.2224A>G	c.(2224-2226)Att>Gtt	p.I742V	USP33_ENST00000370792.3_Missense_Mutation_p.I734V|USP33_ENST00000370794.3_Missense_Mutation_p.I711V|USP33_ENST00000357428.1_Missense_Mutation_p.I742V	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	742	DUSP 1.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TGTCGAGAAATATAAAACTGA	0.373000													21	47					0	0	0.001882	0	0
STRIP1	85369	broad.mit.edu	37	1	110581882	110581882	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:110581882G>T	ENST00000369795.3	+	4	436	c.414G>T	c.(412-414)agG>agT	p.R138S	STRIP1_ENST00000369794.2_Missense_Mutation_p.R138S|STRIP1_ENST00000369796.1_Missense_Mutation_p.R43S	NM_033088.2	NP_149079.2			striatin interacting protein 1																		TCACTGCCAGGGAGAAGAGAC	0.567000													5	26					5.9392e-07	8.75935e-07	0.001168	1	0
ASXL3	80816	broad.mit.edu	37	18	31324912	31324912	+	Silent	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:31324912T>A	ENST00000269197.5	+	12	5100	c.5100T>A	c.(5098-5100)tcT>tcA	p.S1700S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1700					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						AGGGAGCCTCTAGTGTACAAC	0.527000													6	52					0	0	0.001984	0	0
CLCN5	1184	broad.mit.edu	37	X	49689821	49689821	+	Translation_Start_Site	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:49689821G>A	ENST00000376088.3	+	0	554				CLCN5_ENST00000376091.3_De_novo_Start_InFrame|CLCN5_ENST00000482218.1_3'UTR	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5						excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GGGCCACATAGCTGCCTTTCT	0.453000													7	36					0	0	0.001984	0	0
ADCY1	107	broad.mit.edu	37	7	45719353	45719353	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:45719353G>T	ENST00000297323.7	+	11	1966	c.1944G>T	c.(1942-1944)ctG>ctT	p.L648L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	648					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TCTGCTTCCTGGTGGCCTGTG	0.557000													21	36					1.64293e-13	3.13693e-13	0.003330	1	0
ZNF200	7752	broad.mit.edu	37	16	3283746	3283746	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:3283746C>A	ENST00000431561.3	-	2	622	c.10G>T	c.(10-12)Gca>Tca	p.A4S	ZNF200_ENST00000396870.4_Missense_Mutation_p.A4S|ZNF200_ENST00000396871.4_Missense_Mutation_p.A4S|ZNF200_ENST00000575948.1_Missense_Mutation_p.A4S|ZNF200_ENST00000396868.3_Missense_Mutation_p.A4S|ZNF200_ENST00000414144.2_Missense_Mutation_p.A4S	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						ACCACTTTTGCAGCCATCATG	0.537000													21	108					1.28384e-07	1.98011e-07	0.001882	1	0
WDR36	134430	broad.mit.edu	37	5	110438058	110438058	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:110438058C>G	ENST00000506538.2	+	6	1298	c.725C>G	c.(724-726)aCa>aGa	p.T242R	WDR36_ENST00000513710.2_Missense_Mutation_p.T242R|WDR36_ENST00000505303.1_Missense_Mutation_p.T186R	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	242					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTTCTATATACATTTCCAGGA	0.303000													5	40					0	0	0.000602	0	0
POLRMT	5442	broad.mit.edu	37	19	619717	619717	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:619717G>A	ENST00000588649.2	-	13	3019	c.2935C>T	c.(2935-2937)Cag>Tag	p.Q979*		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	979	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGCACCTGTGCCACCCGC	0.687000													11	97					0	0	0.008291	0	0
MYH1	4619	broad.mit.edu	37	17	10399347	10399347	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:10399347C>A	ENST00000226207.5	-	35	5183	c.5089G>T	c.(5089-5091)Gaa>Taa	p.E1697*	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1697						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTGTCTGTTCCAGAGTGGCC	0.572000													6	36					2.0095e-06	2.89402e-06	0.001984	1	0
GJA5	2702	broad.mit.edu	37	1	147230977	147230977	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:147230977C>A	ENST00000271348.2	-	2	531	c.370G>T	c.(370-372)Gag>Tag	p.E124*	GJA5_ENST00000369237.1_Nonsense_Mutation_p.E124*	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	124					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			ACCGGGTACTCGTAAGAGCCA	0.607000													12	60					0.000219431	0.000274391	0.002450	1	0
ZNF479	90827	broad.mit.edu	37	7	57188132	57188132	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:57188132A>C	ENST00000331162.4	-	5	1260	c.990T>G	c.(988-990)tgT>tgG	p.C330W		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGGCTTTGCCACATTCCTCAC	0.448000													15	35					0	0	0.004990	0	0
LRP1B	53353	broad.mit.edu	37	2	141625316	141625316	+	Silent	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:141625316A>T	ENST00000389484.3	-	27	5393	c.4422T>A	c.(4420-4422)gcT>gcA	p.A1474A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1474					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATAGAGACACAGCAAAGGGAT	0.433000										TSP Lung(27;0.18)			7	69					0	0	0.001984	0	0
DUSP27	92235	broad.mit.edu	37	1	167088547	167088547	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:167088547G>C	ENST00000361200.2	+	5	665	c.499G>C	c.(499-501)Gcg>Ccg	p.A167P	DUSP27_ENST00000271385.5_Missense_Mutation_p.A167P|DUSP27_ENST00000443333.1_Missense_Mutation_p.A167P			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	167					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCTGAATGCTGCGCATGGCAC	0.562000													8	27					0	0	0.008291	0	0
RPS27	6232	broad.mit.edu	37	1	153963616	153963616	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:153963616C>T	ENST00000392558.4	+	2	67	c.32C>T	c.(31-33)tCt>tTt	p.S11F	RPS27_ENST00000368567.4_Missense_Mutation_p.S11F|RPS27_ENST00000493224.1_3'UTR			P42677	RS27_HUMAN	ribosomal protein S27	11					cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTTCATCCCTCTCCAGAAGAG	0.498000													6	13					0	0	0.001168	0	0
ITLN1	55600	broad.mit.edu	37	1	160850418	160850418	+	Silent	SNP	G	G	A	rs142057123		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:160850418G>A	ENST00000326245.3	-	6	760	c.645C>T	c.(643-645)gaC>gaT	p.D215D	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	215	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTTTCTGGGCGTCGCCAAAAT	0.438000													11	131					0	0	0.001368	0	0
OR2W5	441932	broad.mit.edu	37	1	247655350	247655350	+	RNA	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:247655350G>C	ENST00000522351.1	+	0	981							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTTCTGGGGTGGGAGAAAGGG	0.502000													10	57					0	0	0.006214	0	0
LRRC34	151827	broad.mit.edu	37	3	169525463	169525463	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:169525463T>C	ENST00000522526.2	-	3	729	c.292A>G	c.(292-294)Aac>Gac	p.N98D	LRRC34_ENST00000522830.1_Missense_Mutation_p.N37D|LRRC34_ENST00000524327.1_5'UTR|LRRC34_ENST00000446859.1_Missense_Mutation_p.N98D|LRRC34_ENST00000316515.7_Missense_Mutation_p.N85D			Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	85										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AAGCGATTGTTACCAGCAATG	0.289000													14	23					0	0	0.007413	0	0
INPP5B	3633	broad.mit.edu	37	1	38352595	38352595	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:38352595C>A	ENST00000373023.2	-	12	1429	c.1336G>T	c.(1336-1338)Gcc>Tcc	p.A446S	INPP5B_ENST00000373024.3_Missense_Mutation_p.A366S|INPP5B_ENST00000373026.1_Missense_Mutation_p.A446S|INPP5B_ENST00000467066.1_5'UTR|INPP5B_ENST00000373027.1_Missense_Mutation_p.A202S|INPP5B_ENST00000458109.2_Missense_Mutation_p.A129S	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	446					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACAGTCTCGGCTTCCACTTCT	0.483000													7	40					8.12818e-05	0.000103758	0.001984	1	0
VAT1L	57687	broad.mit.edu	37	16	77918688	77918688	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:77918688G>A	ENST00000302536.2	+	7	1219	c.1066G>A	c.(1066-1068)Gct>Act	p.A356T		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	356							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CTCCTTGTGGGCTCTGGAGGA	0.473000													4	12					0	0	0.000248	0	0
IGHG1	3500	broad.mit.edu	37	14	106204126	106204126	+	RNA	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:106204126G>A	ENST00000390548.2	-	0	1172																											TCATGTTCCTGTAGTCGGGGA	0.647000													5	24					0	0	0.003080	0	0
TECTA	7007	broad.mit.edu	37	11	121028721	121028721	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:121028721G>T	ENST00000392793.1	+	14	4748	c.4477G>T	c.(4477-4479)Ggc>Tgc	p.G1493C	TECTA_ENST00000264037.2_Missense_Mutation_p.G1493C			O75443	TECTA_HUMAN	tectorin alpha	1493	VWFD 4.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGCCGGCGGCGGCGTCTTCCG	0.667000													3	28					0.004672	0.00521346	0.004672	1	0
MPDZ	8777	broad.mit.edu	37	9	13183472	13183472	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:13183472C>G	ENST00000319217.7	-	19	2841	c.2594G>C	c.(2593-2595)aGt>aCt	p.S865T	MPDZ_ENST00000381022.2_Missense_Mutation_p.S865T|MPDZ_ENST00000447879.1_Missense_Mutation_p.S865T|MPDZ_ENST00000541718.1_Missense_Mutation_p.S865T|MPDZ_ENST00000536827.1_Missense_Mutation_p.S865T|MPDZ_ENST00000381015.4_Missense_Mutation_p.S865T|MPDZ_ENST00000546205.1_Missense_Mutation_p.S865T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	865					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACCACAAGAACTGCCATGAAG	0.403000													5	15					0	0	0.001168	0	0
NTRK2	4915	broad.mit.edu	37	9	87285783	87285783	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:87285783C>A	ENST00000304053.6	+	2	603	c.120C>A	c.(118-120)gcC>gcA	p.A40A	NTRK2_ENST00000277120.3_Silent_p.A40A|NTRK2_ENST00000395882.1_Silent_p.A40A|NTRK2_ENST00000376213.1_Silent_p.A40A|NTRK2_ENST00000376214.1_Silent_p.A40A|NTRK2_ENST00000359847.3_Silent_p.A40A|NTRK2_ENST00000323115.4_Silent_p.A40A|NTRK2_ENST00000376208.1_Silent_p.A40A	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	40	LRRNT.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						AATGCAGTGCCTCTCGGATCT	0.597000										TSP Lung(25;0.17)			18	38					6.94344e-10	1.18478e-09	0.006122	1	0
MUC5B	727897	broad.mit.edu	37	11	1271630	1271630	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:1271630T>A	ENST00000447027.1	+	31	13587	c.13529T>A	c.(13528-13530)cTt>cAt	p.L4510H	MUC5B_ENST00000529681.1_Missense_Mutation_p.L4507H			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4507	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCAACTGCCCTTCCAGCACTG	0.627000													23	168					0	0	0.001882	0	0
BCOR	54880	broad.mit.edu	37	X	39934249	39934249	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:39934249T>A	ENST00000342274.4	-	4	712	c.350A>T	c.(349-351)gAa>gTa	p.E117V	BCOR_ENST00000397354.3_Missense_Mutation_p.E117V|BCOR_ENST00000378455.4_Missense_Mutation_p.E117V|BCOR_ENST00000378444.4_Missense_Mutation_p.E117V	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	117					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGGATTTCTTTCCGAAGAAAA	0.512000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						8	49					0	0	0.004482	0	0
OR2T4	127074	broad.mit.edu	37	1	248525220	248525220	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:248525220T>G	ENST00000366475.1	+	1	338	c.338T>G	c.(337-339)aTg>aGg	p.M113R		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGCCCAAGATGCTCCTGGAC	0.488000													6	234					0	0	0.003080	0	0
FJX1	24147	broad.mit.edu	37	11	35640710	35640710	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:35640710C>T	ENST00000317811.4	+	1	976	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	176						extracellular space				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				CGACGGCACCCGCGCCTGCGT	0.736000													3	7					0	0	0.001168	0	0
NLRP7	199713	broad.mit.edu	37	19	55450411	55450411	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:55450411C>G	ENST00000446217.1	-	6	2262	c.1860G>C	c.(1858-1860)aaG>aaC	p.K620N	NLRP7_ENST00000328092.5_Missense_Mutation_p.K592N|NLRP7_ENST00000340844.2_Missense_Mutation_p.K592N|NLRP7_ENST00000448121.2_Missense_Mutation_p.K592N|NLRP7_ENST00000590030.1_Missense_Mutation_p.K592N|NLRP7_ENST00000592784.1_Missense_Mutation_p.K592N|NLRP7_ENST00000588756.1_Missense_Mutation_p.K592N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	592							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TAGAAATTTCCTTGAACGGGG	0.498000													7	38					0	0	0.001984	0	0
ABCA12	26154	broad.mit.edu	37	2	215901724	215901724	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:215901724T>A	ENST00000272895.7	-	8	1157	c.938A>T	c.(937-939)cAg>cTg	p.Q313L	AC072062.3_ENST00000437897.3_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	313					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AACAGACTTCTGGAGGGTTCT	0.418000													19	64					0	0	0.008871	0	0
FAM209B	388799	broad.mit.edu	37	20	55111389	55111389	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:55111389G>T	ENST00000371325.1	+	2	507	c.411G>T	c.(409-411)atG>atT	p.M137I		NM_001013646.2	NP_001013668.2	Q5JX69	CT107_HUMAN	family with sequence similarity 209, member B	137						integral to membrane											AAGGTGCCATGGCAACAGGCA	0.423000													10	40					1.58986e-06	2.2995e-06	0.008291	1	0
CFH	3075	broad.mit.edu	37	1	196695642	196695642	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:196695642G>T	ENST00000367429.4	+	13	2156	c.1916G>T	c.(1915-1917)gGg>gTg	p.G639V		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	639	Sushi 11.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTCCTCAATGGGAATGTTAAG	0.318000													5	13					2.7689e-08	4.42236e-08	0.001984	1	0
ACTB	60	broad.mit.edu	37	7	5567995	5567995	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:5567995T>C	ENST00000331789.5	-	4	910	c.719A>G	c.(718-720)tAc>tGc	p.Y240C		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	240					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		AGGCAGCTCGTAGCTCTTCTC	0.587000													21	66					0	0	0.008871	0	0
SLC26A3	1811	broad.mit.edu	37	7	107423710	107423710	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:107423710C>A	ENST00000340010.5	-	9	1243	c.1059G>T	c.(1057-1059)gtG>gtT	p.V353V	SLC26A3_ENST00000422236.2_Silent_p.V318V	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	353					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CTGAAAAGGCCACTGCAAATG	0.443000													18	28					1.99824e-07	3.04708e-07	0.004990	1	0
VWA3B	200403	broad.mit.edu	37	2	98732176	98732176	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:98732176G>C	ENST00000477737.1	+	3	462	c.258G>C	c.(256-258)caG>caC	p.Q86H	VWA3B_ENST00000435344.1_Missense_Mutation_p.Q86H|VWA3B_ENST00000451075.2_Missense_Mutation_p.S20T	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	86										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTTTCCACAGCTCTACAGAG	0.458000													3	23					0	0	0.004672	0	0
RASSF6	166824	broad.mit.edu	37	4	74453587	74453587	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:74453587G>C	ENST00000307439.5	-	5	646	c.352C>G	c.(352-354)Cct>Gct	p.P118A	RASSF6_ENST00000335049.5_Missense_Mutation_p.P106A|RASSF6_ENST00000342081.3_Missense_Mutation_p.P150A|RASSF6_ENST00000395777.2_Missense_Mutation_p.P118A	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	150					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCAGACATAGGAATCTGGGTC	0.373000													11	33					0	0	0.001368	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55294936	55294936	+	Splice_Site	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:55294936A>T	ENST00000336077.6	+	7	857		c.e7-1		KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Splice_Site|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Splice_Site	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1						immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CATCTTCTACAGATGCTGCGG	0.522000													10	65					0	0	0.000978	0	0
CACNA1S	779	broad.mit.edu	37	1	201027603	201027603	+	Missense_Mutation	SNP	G	G	A	rs144935943		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:201027603G>A	ENST00000362061.3	-	28	3768	c.3542C>T	c.(3541-3543)cCc>cTc	p.P1181L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1181L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1181					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CACATTCCAGGGGTCTCCAAA	0.547000													6	22					0	0	0.001984	0	0
ZNF525	170958	broad.mit.edu	37	19	53879127	53879127	+	Silent	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:53879127T>C	ENST00000467003.1	+	3	213	c.12T>C	c.(10-12)aaT>aaC	p.N4N	ZNF525_ENST00000593918.1_Silent_p.N40N|ZNF525_ENST00000474037.1_Silent_p.N40N|ZNF525_ENST00000475179.1_Silent_p.N40N|ZNF525_ENST00000491101.1_Silent_p.N40N					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						TGCTGGAGAATTATAGGAACC	0.458000													4	106					0	0	0.000602	0	0
ZNF804B	219578	broad.mit.edu	37	7	88966181	88966181	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:88966181G>T	ENST00000333190.4	+	4	4494	c.3885G>T	c.(3883-3885)ttG>ttT	p.L1295F		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1295						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTCCTACATTGTTTGGTCCTC	0.443000										HNSCC(36;0.09)			17	162					0.000566183	0.000685112	0.004990	1	0
GLP1R	2740	broad.mit.edu	37	6	39034045	39034045	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:39034045C>A	ENST00000373256.4	+	5	518	c.475C>A	c.(475-477)Ctg>Atg	p.L159M		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	159					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CTTCTCTGCTCTGGTTATCGC	0.597000													6	29					3.59834e-05	4.79304e-05	0.001168	1	0
NEIL3	55247	broad.mit.edu	37	4	178243616	178243616	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:178243616G>T	ENST00000264596.3	+	2	278	c.160G>T	c.(160-162)Gct>Tct	p.A54S		NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	54					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CCACTAGGCTGCTGCACTGAA	0.378000								Base excision repair (BER), DNA glycosylases					15	85					3.45872e-05	4.67169e-05	0.004007	1	0
ASB11	140456	broad.mit.edu	37	X	15320871	15320871	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:15320871G>T	ENST00000537676.1	-	2	249	c.177C>A	c.(175-177)gcC>gcA	p.A59A	ASB11_ENST00000344384.4_Silent_p.A59A|ASB11_ENST00000480796.1_Silent_p.A80A|ASB11_ENST00000380470.3_Silent_p.A80A			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	80					intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					AAGTTTTAAGGGCCAGTAAGC	0.433000													7	37					8.12818e-05	0.000103758	0.001984	1	0
ZKSCAN3	80317	broad.mit.edu	37	6	28327735	28327735	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:28327735G>T	ENST00000377255.3	+	3	669	c.372G>T	c.(370-372)ttG>ttT	p.L124F	ZKSCAN3_ENST00000341464.5_Intron|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.L124F	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	124	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TGGAGTATTTGGAGAGGCAGC	0.582000													6	27					9.70103e-10	1.65113e-09	0.008291	1	0
TPX2	22974	broad.mit.edu	37	20	30381818	30381818	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:30381818G>T	ENST00000340513.4	+	15	2313	c.1785G>T	c.(1783-1785)caG>caT	p.Q595H	TPX2_ENST00000300403.6_Missense_Mutation_p.Q559H			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	559					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AAGAACTGCAGAAAGGGGAGG	0.378000													11	46					6.40141e-05	8.32925e-05	0.000978	1	0
SCN1A	6323	broad.mit.edu	37	2	166892600	166892600	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:166892600C>T	ENST00000423058.2	-	16	3404	c.3387G>A	c.(3385-3387)acG>acA	p.T1129T	SCN1A_ENST00000409050.1_Silent_p.T1101T|SCN1A_ENST00000375405.3_Silent_p.T1118T|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Silent_p.T1129T|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1129						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T1118T(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TAAAGTCTTCCGTGTTTAAAT	0.348000													20	57					0	0	0.001523	0	0
COL11A1	1301	broad.mit.edu	37	1	103354185	103354185	+	Splice_Site	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:103354185C>A	ENST00000358392.2	-	62	4909	c.4590_splice	c.e62-1	p.G1531_splice	COL11A1_ENST00000512756.1_Splice_Site_p.G1403_splice|COL11A1_ENST00000370096.3_Splice_Site_p.G1519_splice|COL11A1_ENST00000353414.4_Splice_Site_p.G1480_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1519	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCAGCGGGTCCCTGTTAGAA	0.413000													11	20					0.000219431	0.000274391	0.002450	1	0
FYTTD1	84248	broad.mit.edu	37	3	197483313	197483313	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:197483313G>C	ENST00000241502.3	+	2	342	c.120G>C	c.(118-120)ttG>ttC	p.L40F	FYTTD1_ENST00000424384.2_5'UTR|FYTTD1_ENST00000428395.2_5'UTR|FYTTD1_ENST00000415708.2_Missense_Mutation_p.L14F	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	40					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		TCATCAAGTTGAATCGAAAGG	0.383000													5	20					0	0	0.000602	0	0
PCDH8	5100	broad.mit.edu	37	13	53420780	53420780	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:53420780G>T	ENST00000377942.3	-	1	1995	c.1792C>A	c.(1792-1794)Cgc>Agc	p.R598S	PCDH8_ENST00000338862.4_Missense_Mutation_p.R598S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	598	Cadherin 5.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TCCAGCACGCGCACTTGCACT	0.657000													5	5					0.000602214	0.000718394	0.000602	1	0
ERBB4	2066	broad.mit.edu	37	2	212530125	212530125	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:212530125C>T	ENST00000342788.4	-	15	2104	c.1794G>A	c.(1792-1794)caG>caA	p.Q598Q	ERBB4_ENST00000402597.1_Silent_p.Q598Q|ERBB4_ENST00000436443.1_Silent_p.Q598Q	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	598	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGTTTGCCCCCTGTAAGCCAT	0.458000										TSP Lung(8;0.080)			10	35					0	0	0.006214	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43771344	43771344	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:43771344T>C	ENST00000389420.3	-	32	4818	c.4819A>G	c.(4819-4821)Agt>Ggt	p.S1607G		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1607	TSP type-1 14.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGTCTGTAACTAAATCCACAG	0.358000													6	22					0	0	0.001168	0	0
FREM2	341640	broad.mit.edu	37	13	39265078	39265078	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:39265078G>T	ENST00000280481.7	+	1	3813	c.3597G>T	c.(3595-3597)atG>atT	p.M1199I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1199					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)		GAGAATTTATGGTGATGGAAG	0.408000													17	95					9.16793e-09	1.49256e-08	0.004990	1	0
TRHDE	29953	broad.mit.edu	37	12	73046831	73046831	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:73046831T>G	ENST00000261180.4	+	17	2840	c.2744T>G	c.(2743-2745)cTg>cGg	p.L915R		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	915					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						GAGGTGGTGCTGGATCAAGAT	0.333000													8	24					0	0	0.006214	0	0
LRP1B	53353	broad.mit.edu	37	2	140995780	140995780	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:140995780C>A	ENST00000389484.3	-	89	14472	c.13501G>T	c.(13501-13503)Gat>Tat	p.D4501Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4501					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGATCATGATCTACCTCATAC	0.348000										TSP Lung(27;0.18)			6	35					8.12818e-05	0.000103758	0.001984	1	0
OR5D18	219438	broad.mit.edu	37	11	55587841	55587841	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:55587841C>A	ENST00000333976.4	+	1	756	c.736C>A	c.(736-738)Ctg>Atg	p.L246M		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TGCCTCCCACCTGACTGCCAT	0.507000													6	55					0.00307968	0.00351219	0.003080	1	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343000													4	46					0	0	0.000248	0	0
DNAH9	1770	broad.mit.edu	37	17	11835517	11835517	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:11835517G>A	ENST00000262442.3	+	64	12360	c.12292G>A	c.(12292-12294)Gca>Aca	p.A4098T	DNAH9_ENST00000454412.2_Missense_Mutation_p.A4022T|DNAH9_ENST00000396001.2_Missense_Mutation_p.A410T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4098					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)		GGAGGCCAACGCAAAGGTAAA	0.498000													7	23					0	0	0.003080	0	0
LPHN3	23284	broad.mit.edu	37	4	62903549	62903549	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:62903549C>A	ENST00000512091.1	+	23	4235	c.3488C>A	c.(3487-3489)cCt>cAt	p.P1163H	LPHN3_ENST00000507164.1_Missense_Mutation_p.P1222H|LPHN3_ENST00000514591.1_Missense_Mutation_p.P1163H|LPHN3_ENST00000514157.1_Missense_Mutation_p.P1154H|LPHN3_ENST00000506700.1_Missense_Mutation_p.P1154H|LPHN3_ENST00000507625.1_Missense_Mutation_p.P1222H|LPHN3_ENST00000504896.1_Missense_Mutation_p.P1163H|LPHN3_ENST00000511324.1_Missense_Mutation_p.P1222H|LPHN3_ENST00000545650.1_Missense_Mutation_p.P1163H|LPHN3_ENST00000508693.1_Missense_Mutation_p.P1231H|LPHN3_ENST00000508946.1_Missense_Mutation_p.P1163H|LPHN3_ENST00000506720.1_Missense_Mutation_p.P1231H|LPHN3_ENST00000506746.1_Missense_Mutation_p.P1222H|LPHN3_ENST00000514996.1_Missense_Mutation_p.P1154H|LPHN3_ENST00000509896.1_Missense_Mutation_p.P1231H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1141					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCTCGAACTCCTGGACGCTAC	0.418000													7	50					8.12818e-05	0.000103758	0.001984	1	0
FLG2	388698	broad.mit.edu	37	1	152326682	152326682	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:152326682G>T	ENST00000388718.5	-	3	3652	c.3580C>A	c.(3580-3582)Caa>Aaa	p.Q1194K	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1194	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATATATGTTGTCCAGAACTA	0.483000													19	83					8.28177e-16	1.64658e-15	0.007413	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19698822	19698822	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr21:19698822G>T	ENST00000284885.3	-	16	1881	c.1848C>A	c.(1846-1848)ctC>ctA	p.L616L		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	616	CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CGTTAGTGATGAGAAGCACAG	0.458000													21	51					7.45023e-12	1.36452e-11	0.001523	1	0
CD177	57126	broad.mit.edu	37	19	43858498	43858498	+	RNA	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:43858498C>T	ENST00000378009.4	+	0	375				CD177_ENST00000378012.2_RNA|CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				ACTTCTGCAACAACCTCGTTA	0.672000													4	49					0	0	0.000248	0	0
TP53	7157	broad.mit.edu	37	17	7574026	7574026	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:7574026C>A	ENST00000269305.4	-	10	1190	c.1001G>T	c.(1000-1002)gGg>gTg	p.G334V	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.G334V|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	334	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		G -> V (in sporadic cancers; somatic mutation).|G -> W (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.G334V(7)|p.I332fs*5(1)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGCTCACGCCCACGGATCTG	0.522000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	22					1.76689e-08	2.83544e-08	0.006214	1	0
GPR111	222611	broad.mit.edu	37	6	47649585	47649585	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:47649585C>A	ENST00000398742.2	+	5	1135	c.1086C>A	c.(1084-1086)acC>acA	p.T362T	GPR111_ENST00000296862.1_Silent_p.T430T|GPR111_ENST00000507065.1_Silent_p.T362T			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	430					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AATTGTTTACCTCTTTCTCAA	0.438000													7	61					0.00448238	0.005069	0.004482	1	0
GALNT6	11226	broad.mit.edu	37	12	51753114	51753114	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:51753114C>A	ENST00000543196.2	-	7	1375	c.1170G>T	c.(1168-1170)gtG>gtT	p.V390V	GALNT6_ENST00000356317.3_Silent_p.V390V			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	390	Catalytic subdomain B.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CACACTGCCACACCTGATGTA	0.582000													17	61					1.15088e-07	1.77911e-07	0.004007	1	0
ZNF728	388523	broad.mit.edu	37	19	23159841	23159841	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:23159841A>T	ENST00000594710.1	-	4	443	c.298T>A	c.(298-300)Ttg>Atg	p.L100M		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		TATCTTCTCAATATCACTTTT	0.323000													10	22					0	0	0.008291	0	0
ZNF202	7753	broad.mit.edu	37	11	123597077	123597077	+	Silent	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:123597077T>A	ENST00000336139.4	-	8	1937	c.1575A>T	c.(1573-1575)acA>acT	p.T525T	ZNF202_ENST00000530393.1_Silent_p.T525T|ZNF202_ENST00000529691.1_Silent_p.T525T			O95125	ZN202_HUMAN	zinc finger protein 202	525					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TTTGGTGTGTTGTTAACACAG	0.493000													25	53					0	0	0.004656	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321360	79321360	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:79321360C>T	ENST00000428286.1	-	8	5953	c.4753G>A	c.(4753-4755)Gct>Act	p.A1585T	PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1944T			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1944					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCACCAGCAGCAGACACAAAG	0.493000													5	44					0	0	0.000602	0	0
BPNT1	10380	broad.mit.edu	37	1	220232313	220232313	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:220232313C>A	ENST00000469520.2	-	10	1249	c.800G>T	c.(799-801)gGg>gTg	p.G267V	BPNT1_ENST00000354807.3_Missense_Mutation_p.G282V|BPNT1_ENST00000544404.1_Missense_Mutation_p.G212V|BPNT1_ENST00000322067.7_Missense_Mutation_p.G267V|BPNT1_ENST00000414869.2_Missense_Mutation_p.G231V			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	267					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		AAGAACATTCCCATGGATATC	0.393000													6	72					3.59834e-05	4.79304e-05	0.001168	1	0
ECHDC1	55862	broad.mit.edu	37	6	127611329	127611329	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:127611329G>T	ENST00000531967.1	-	6	1112	c.609C>A	c.(607-609)atC>atA	p.I203I	ECHDC1_ENST00000474289.2_Silent_p.I197I|ECHDC1_ENST00000430841.2_Silent_p.I197I|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000454859.3_Silent_p.I197I|ECHDC1_ENST00000454591.2_Silent_p.I122I|ECHDC1_ENST00000309620.9_Silent_p.I180I|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000488087.1_5'UTR	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	203							catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		GTCTACTTCCGATTATTTCAA	0.443000													16	38					2.23348e-06	3.20291e-06	0.004007	1	0
IL9R	3581	broad.mit.edu	37	X	155234100	155234100	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:155234100C>A	ENST00000424344.3	+	6	753	c.386C>A	c.(385-387)cCc>cAc	p.P129H	IL9R_ENST00000540897.1_Intron|IL9R_ENST00000369423.2_Intron|IL9R_ENST00000244174.5_Missense_Mutation_p.P150H			Q01113	IL9R_HUMAN	interleukin 9 receptor	150					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTGGACCCGCCCTCTGACTTG	0.542000													6	37					5.18039e-06	7.31988e-06	0.003080	1	0
FLG	2312	broad.mit.edu	37	1	152280768	152280768	+	Silent	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:152280768T>C	ENST00000368799.1	-	3	6629	c.6594A>G	c.(6592-6594)caA>caG	p.Q2198Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2198	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)			CATCTCCTGATTGTTCCTTGT	0.542000									Ichthyosis				14	463					0	0	0.003163	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8651527	8651527	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:8651527C>A	ENST00000270328.4	-	19	2584	c.2318G>T	c.(2317-2319)gGg>gTg	p.G773V	ADAMTS10_ENST00000595838.1_Missense_Mutation_p.G260V|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.G773V			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	773	Spacer.				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						AAAGGTGGTCCCAGCTAGAGG	0.632000											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	66					0.000978159	0.00115057	0.000978	1	0
APLNR	187	broad.mit.edu	37	11	57003413	57003413	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:57003413G>T	ENST00000606794.1	-	1	1262	c.1066C>A	c.(1066-1068)Ccc>Acc	p.P356T		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	356						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCCATGTTGGGGCCGGGCCCC	0.627000													23	34					9.86323e-18	1.97852e-17	0.003954	1	0
LGR5	8549	broad.mit.edu	37	12	71976302	71976302	+	Missense_Mutation	SNP	A	A	T	rs147607370		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:71976302A>T	ENST00000266674.5	+	17	1930	c.1619A>T	c.(1618-1620)cAg>cTg	p.Q540L	LGR5_ENST00000536515.1_Missense_Mutation_p.Q468L|RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Missense_Mutation_p.Q516L			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	540						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CATTCAGTGCAGTGTTCACCT	0.433000													10	41					0	0	0.000978	0	0
MED13	9969	broad.mit.edu	37	17	60042440	60042440	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:60042440C>A	ENST00000397786.2	-	20	4847	c.4771G>T	c.(4771-4773)Gct>Tct	p.A1591S		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1591					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTCTGTAGAGCTGATGTCTGT	0.453000													9	34					1.12685e-05	1.56921e-05	0.004482	1	0
IL16	3603	broad.mit.edu	37	15	81578129	81578129	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:81578129C>A	ENST00000394660.2	+	10	1650	c.1290C>A	c.(1288-1290)ccC>ccA	p.P430P	IL16_ENST00000302987.4_Silent_p.P430P	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	430	Interaction with GRIN2A.|PDZ 2.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ACTGTGATCCCGGTCCAGTCC	0.522000													19	82					2.94398e-08	4.67982e-08	0.007413	1	0
PPIE	10450	broad.mit.edu	37	1	40207081	40207081	+	Splice_Site	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:40207081G>T	ENST00000324379.5	+	3	193	c.174_splice	c.e3+1	p.E58_splice	PPIE_ENST00000480169.1_3'UTR|PPIE_ENST00000470213.1_Splice_Site_p.E58_splice|PPIE_ENST00000372830.1_Splice_Site_p.E58_splice|PPIE_ENST00000356511.2_Splice_Site_p.E58_splice	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	58	RRM.				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGTTGGCAGAGGTGAGAGTCT	0.388000													12	57					4.36969e-10	7.49407e-10	0.001855	1	0
C1orf127	148345	broad.mit.edu	37	1	11008728	11008728	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:11008728C>A	ENST00000377004.4	-	12	1463	c.1464G>T	c.(1462-1464)gaG>gaT	p.E488D	C1orf127_ENST00000377008.4_Missense_Mutation_p.E321D	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	339										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCTGGACACCCTCTACAGGCT	0.677000													7	41					8.12818e-05	0.000103758	0.001984	1	0
ABRACL	58527	broad.mit.edu	37	6	139363914	139363914	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:139363914C>T	ENST00000367660.3	+	3	320	c.120C>T	c.(118-120)gcC>gcT	p.A40A		NM_021243.2	NP_067066.1	Q9P1F3	CF115_HUMAN	ABRA C-terminal like	40																	ATAAATGTGCCAACCTCTTTG	0.403000													18	61					0	0	0.008871	0	0
CHRNA6	8973	broad.mit.edu	37	8	42612118	42612118	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:42612118G>A	ENST00000276410.2	-	4	682	c.327C>T	c.(325-327)cgC>cgT	p.R109R	CHRNA6_ENST00000530869.1_5'UTR|CHRNA6_ENST00000534622.1_Silent_p.R94R	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	109						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CTGCAGGAACGCGAAGAGTCT	0.388000													13	45					0	0	0.003163	0	0
IFRD1	3475	broad.mit.edu	37	7	112112292	112112292	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:112112292G>T	ENST00000403825.3	+	10	1321	c.1060G>T	c.(1060-1062)Gaa>Taa	p.E354*	IFRD1_ENST00000535603.1_Nonsense_Mutation_p.E304*|IFRD1_ENST00000005558.4_Nonsense_Mutation_p.E354*	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	354					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TTTTCCAACAGAAACCATTAA	0.393000													18	41					0.00074312	0.000880251	0.006122	1	0
NLRP13	126204	broad.mit.edu	37	19	56413443	56413443	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:56413443C>A	ENST00000588751.1	-	9	2771	c.2747G>T	c.(2746-2748)tGt>tTt	p.C916F	NLRP13_ENST00000342929.3_Missense_Mutation_p.C916F			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	916							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAAGGCCTCACACAGGAACTT	0.542000													7	34					1.26484e-09	2.12595e-09	0.003080	1	0
FAM47A	158724	broad.mit.edu	37	X	34149660	34149660	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:34149660G>T	ENST00000346193.3	-	1	787	c.736C>A	c.(736-738)Cat>Aat	p.H246N		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	246	Pro-rich.							p.L235_H246delLRPEPPETGVSH(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGGCGGATATGGGACACTCCA	0.642000													6	39					8.12818e-05	0.000103758	0.001984	1	0
TYW1B	441250	broad.mit.edu	37	7	72209576	72209576	+	RNA	SNP	C	C	G	rs147711959	by1000genomes	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:72209576C>G	ENST00000438125.1	-	0	579							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										CTCGGAGCATCGACTATGACA	0.413000													3	38					0	0	0.001168	0	0
SP3	6670	broad.mit.edu	37	2	174820498	174820498	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:174820498C>A	ENST00000310015.6	-	4	1272	c.742G>T	c.(742-744)Ggt>Tgt	p.G248C	SP3_ENST00000418194.2_Missense_Mutation_p.G180C|SP3_ENST00000455789.2_Missense_Mutation_p.G195C	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	248					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TGGGTTTGACCAGGAAAAGAT	0.458000													9	58					0.00621372	0.00688823	0.006214	1	0
LGR6	59352	broad.mit.edu	37	1	202288091	202288091	+	Frame_Shift_Del	DEL	G	G	-	rs151146799	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:202288091delG	ENST00000367278.3	+	18	2749	c.2660delG	c.(2659-2661)cgfs	p.R887fs	LGR6_ENST00000255432.7_Frame_Shift_Del_p.R835fs|LGR6_ENST00000439764.2_Frame_Shift_Del_p.R748fs	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	887						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GAAGCTGGGCGGCCCCCTGGG	0.627													16	57	---	---	---	---					
FH	2271	broad.mit.edu	37	1	241675385	241675385	+	Frame_Shift_Del	DEL	C	C	-	rs11545654		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:241675385delC	ENST00000366560.3	-	4	475	c.437delG	c.(436-438)gafs	p.G146fs		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	146					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TGTCTGAGTTCCTGATCCAGT	0.353			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				7	78	---	---	---	---					
POTEJ	653781	broad.mit.edu	37	2	131369243	131369243	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:131369243delT	ENST00000409602.1	+	1	190	c.138delT	c.(136-138)tcfs	p.S46fs		NM_001277083.1	NP_001264012.1			POTE ankyrin domain family, member J											lung(5)	5						TGGGCACTTCTGGAGACCAGG	0.602													4	2	---	---	---	---					
SH3RF1	57630	broad.mit.edu	37	4	170043254	170043255	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:170043254_170043255delCT	ENST00000284637.9	-	7	1683_1684	c.1342_1343delAG	c.(1342-1344)tfs	p.S448fs	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	448	Interaction with AKT2 (By similarity).|SH3 3.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CACTTACACACTGGGGCGAGTC	0.545													9	34	---	---	---	---					
VCAN	1462	broad.mit.edu	37	5	82836883	82836884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:82836883_82836884insC	ENST00000265077.3	+	8	8626_8627	c.8061_8062insC	c.(8059-8064)ctccacfs	p.H2688fs	VCAN_ENST00000343200.5_Frame_Shift_Ins_p.H1701fs|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2688	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACGTTTTACTTCCCACGGCAAC	0.441													9	49	---	---	---	---					
NRBF2	29982	broad.mit.edu	37	10	64893181	64893181	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:64893181delC	ENST00000435510.2	+	1	97	c.6delC	c.(4-6)ttfs	p.F2fs	NRBF2_ENST00000277746.6_5'UTR			Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	0					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	cytoplasm|nucleoplasm	protein binding			large_intestine(2)|lung(3)|skin(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCTCCATGTTCCCCGGCGCCA	0.627													2	4	---	---	---	---					
TYR	7299	broad.mit.edu	37	11	88961080	88961081	+	Frame_Shift_Ins	INS	-	-	A	rs61754389		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:88961080_88961081insA	ENST00000263321.5	+	3	1628_1629	c.1126_1127insA	c.(1126-1128)ggtfs	p.G376fs		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	376				TMSQVQ -> HVPGT (in Ref. 2; AAA61241).	eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AACAATGTCCCAGGTACAGGGA	0.411													7	68	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs33924686	by1000genomes	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416													5	5	---	---	---	---					
SRP54-AS1	100506157	broad.mit.edu	37	14	35390220	35390220	+	RNA	DEL	A	A	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:35390220delA	ENST00000556355.1	-	0	524																											CTGAAAAGGGAACCTGCTTCT	0.378													2	4	---	---	---	---					
LA16c-306E5.3	0	broad.mit.edu	37	16	3546140	3546141	+	RNA	INS	-	-	A	rs74546027		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:3546140_3546141insA	ENST00000574423.2	+	0	111																											gactccgtctcaaaaaaaaaaa	0.559													2	4	---	---	---	---					
ZNF575	284346	broad.mit.edu	37	19	44038551	44038551	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:44038551delC	ENST00000458714.2	+	4	1081	c.274delC	c.(274-276)ccfs	p.P92fs	ZNF575_ENST00000601282.1_Intron|ZNF575_ENST00000314228.5_5'UTR			Q86XF7	ZN575_HUMAN	zinc finger protein 575	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4		Prostate(69;0.0199)				CCGCGCCCTGCCCCTAGGTTC	0.632													2	4	---	---	---	---					
PVRL2	5819	broad.mit.edu	37	19	45381598	45381600	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:45381598_45381600delGAG	ENST00000252485.4	+	6	1512_1514	c.1161_1163delGAG	c.(1159-1164)gtg>gt	p.VR387del	PVRL2_ENST00000252483.5_Intron	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	384					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGCTgagggtgaggaggaggagg	0.665													2	4	---	---	---	---					
STRN4	29888	broad.mit.edu	37	19	47231253	47231253	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:47231253delC	ENST00000391910.3	-	8	1501	c.1051delG	c.(1051-1053)tcfs	p.V351fs	STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000539396.1_Frame_Shift_Del_p.V232fs|STRN4_ENST00000263280.6_Frame_Shift_Del_p.V351fs			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	351						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TGGAGTTTGACCCGACGGCTT	0.647													10	32	---	---	---	---					
FIZ1	84922	broad.mit.edu	37	19	56104337	56104337	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:56104337delC	ENST00000221665.3	-	3	1059	c.970delG	c.(970-972)agfs	p.E324fs		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TCCGAGGGCTCGGCGGCCGCC	0.776													2	4	---	---	---	---					
NLRP8	126205	broad.mit.edu	37	19	56490891	56490891	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:56490891delA	ENST00000291971.3	+	9	3079	c.3008delA	c.(3007-3009)ggfs	p.E1003fs	NLRP8_ENST00000590542.1_Frame_Shift_Del_p.E984fs	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	1003						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACCTTGTGCGAGGCCTTCTCA	0.478													14	75	---	---	---	---					
DEFB116	245930	broad.mit.edu	37	20	29891135	29891136	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:29891135_29891136insT	ENST00000400549.1	-	2	187_188	c.188_189insA	c.(187-189)agafs	p.R63fs		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	63					defense response to bacterium	extracellular region				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ACTTTTGATCATTTGGGCAGGT	0.416													34	242	---	---	---	---					
SH3BGR	6450	broad.mit.edu	37	21	40823995	40823995	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr21:40823995delG	ENST00000333634.4	+	1	240	c.162delG	c.(160-162)ttfs	p.L54fs	SH3BGR_ENST00000458295.1_Intron|SH3BGR_ENST00000380637.3_Intron|SH3BGR_ENST00000380631.1_Intron|SH3BGR_ENST00000380634.1_Intron	NM_007341.2	NP_031367.1	P55822	SH3BG_HUMAN	SH3 domain binding glutamic acid-rich protein	54					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		GGGGTGTGTTGGGGGGAGTCC	0.552													42	116	---	---	---	---					
PCNT	5116	broad.mit.edu	37	21	47832852	47832852	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr21:47832852delG	ENST00000359568.5	+	29	6203	c.6096delG	c.(6094-6096)tcfs	p.S2032fs	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2032					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGCTGCAGTCGGAGCTGCTCT	0.617													9	61	---	---	---	---					
OCRL	4952	broad.mit.edu	37	X	128722155	128722155	+	Splice_Site	DEL	G	G	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:128722155delG	ENST00000371113.4	+	21	2421		c.e21-1		OCRL_ENST00000357121.5_Splice_Site	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TTCTTTGGTAGGAGGACCTGT	0.488													12	34	---	---	---	---					
BCORL1	63035	broad.mit.edu	37	X	129149178	129149178	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:129149178delG	ENST00000540052.1	+	3	2474	c.2430delG	c.(2428-2430)ccfs	p.P810fs	BCORL1_ENST00000218147.7_Frame_Shift_Del_p.P810fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.P810fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.P810fs	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	810					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCACGGGGCCGGCAAATATTT	0.577													25	74	---	---	---	---					
