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
WDR48	57599	broad.mit.edu	37	3	39136217	39136217	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:39136217C>A	ENST00000302313.5	+	19	2045	c.2017C>A	c.(2017-2019)Cgt>Agt	p.R673S	WDR48_ENST00000396258.3_Missense_Mutation_p.R591S|WDR48_ENST00000418020.1_Missense_Mutation_p.R117S|WDR48_ENST00000466405.1_3'UTR|WDR48_ENST00000544962.1_Missense_Mutation_p.R398S	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	673					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	p.R673C(1)		breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCTCCATTACCGTCAGAAGTC	0.473000													39	161					1.62957e-23	2.91041e-23	1	1	0
PAK7	57144	broad.mit.edu	37	20	9624854	9624854	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:9624854G>T	ENST00000378429.3	-	4	669	c.123C>A	c.(121-123)agC>agA	p.S41R	PAK7_ENST00000378423.1_Missense_Mutation_p.S41R|PAK7_ENST00000353224.5_Missense_Mutation_p.S41R	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	41	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTGCTAACAGGCTGTGCCACT	0.527000													26	95					1.5548e-18	2.60007e-18	1	1	0
ANO10	55129	broad.mit.edu	37	3	43602878	43602878	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:43602878A>C	ENST00000292246.3	-	9	1480	c.1310T>G	c.(1309-1311)cTa>cGa	p.L437R	ANO10_ENST00000396091.3_Missense_Mutation_p.L371R|ANO10_ENST00000451430.2_Missense_Mutation_p.L326R|ANO10_ENST00000350459.4_Missense_Mutation_p.L247R|ANO10_ENST00000414522.2_Missense_Mutation_p.L437R	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	437					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						GGAGGTAATTAGGAGAGTGGC	0.373000													9	114					0	0	1	0	0
SRPK1	6732	broad.mit.edu	37	6	35838058	35838058	+	Splice_Site	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:35838058C>T	ENST00000373825.2	-	10	1276	c.991_splice	c.e10+1	p.E331_splice	SRPK1_ENST00000423325.2_Splice_Site_p.E315_splice|SRPK1_ENST00000373822.1_Splice_Site_p.E224_splice			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	331	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						CTATTTATACCAAGTTTTTCT	0.353000													5	27					0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524879	26524879	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:26524879G>T	ENST00000456354.2	+	6	848	c.781G>T	c.(781-783)Gac>Tac	p.D261Y		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	261					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CATCACCCAGGACGGCTGGGT	0.552000													21	299					5.26018e-13	7.70056e-13	1	1	0
ZNF827	152485	broad.mit.edu	37	4	146807068	146807068	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:146807068C>A	ENST00000508784.1	-	4	1736	c.1509G>T	c.(1507-1509)acG>acT	p.T503T	ZNF827_ENST00000379448.4_Silent_p.T503T|ZNF827_ENST00000513320.1_Silent_p.T153T			Q17R98	ZN827_HUMAN	zinc finger protein 827	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GAGTGTTAGACGTCATCATGG	0.592000													26	105					4.7796e-09	6.14127e-09	1	1	0
FBN2	2201	broad.mit.edu	37	5	127595281	127595281	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:127595281T>C	ENST00000508053.1	-	71	9579	c.8605A>G	c.(8605-8607)Aca>Gca	p.T2869A	FBN2_ENST00000262464.4_Missense_Mutation_p.T2869A			P35556	FBN2_HUMAN	fibrillin 2	2869					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATTTCCAGTGTGTATGTGCCG	0.522000													22	204					0	0	1	0	0
CCDC42	146849	broad.mit.edu	37	17	8638808	8638808	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:8638808C>T	ENST00000293845.3	-	5	840	c.614G>A	c.(613-615)cGc>cAc	p.R205H	CCDC42_ENST00000539522.2_Intron	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	205				Missing (in Ref. 2; AAH29224).						kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						CTCCATGTAGCGCGCCAGCCG	0.582000													18	55					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224045	248224045	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:248224045G>T	ENST00000359959.3	+	1	62	c.62G>T	c.(61-63)aGa>aTa	p.R21I	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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)			CCACCATCAAGAATTGGCCTT	0.403000													37	625					2.5098e-30	4.70852e-30	1	1	0
ACBD5	91452	broad.mit.edu	37	10	27493448	27493448	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:27493448G>A	ENST00000396271.3	-	12	1612	c.1486C>T	c.(1486-1488)Cct>Tct	p.P496S	ACBD5_ENST00000375901.1_Missense_Mutation_p.P387S|ACBD5_ENST00000375888.1_Missense_Mutation_p.P505S|ACBD5_ENST00000375905.4_Missense_Mutation_p.P461S|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375897.3_Missense_Mutation_p.P319S	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	505					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AGCACACCAGGAGACATCTCG	0.378000													6	84					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77797303	77797303	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:77797303G>T	ENST00000354212.4	-	15	2779	c.2526C>A	c.(2524-2526)atC>atA	p.I842I	MAGI2_ENST00000419488.1_Silent_p.I828I|MAGI2_ENST00000522391.1_Silent_p.I842I	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	842	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GCATGAGGTCGATGACATAGC	0.567000													29	248					2.36697e-06	2.75941e-06	1	1	0
CDK14	5218	broad.mit.edu	37	7	90419929	90419929	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:90419929A>C	ENST00000406263.1	+	4	810	c.368A>C	c.(367-369)cAg>cCg	p.Q123P	CDK14_ENST00000380050.3_Missense_Mutation_p.Q169P|CDK14_ENST00000265741.3_Missense_Mutation_p.Q151P|CDK14_ENST00000436577.2_Missense_Mutation_p.Q40P			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	169					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						ATCAGGCTGCAGGAAGAAGAA	0.393000													16	101					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180058774	180058774	+	Silent	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:180058774C>T	ENST00000261937.6	-	2	141	c.63G>A	c.(61-63)ctG>ctA	p.L21L	FLT4_ENST00000393347.3_Silent_p.L21L|FLT4_ENST00000502649.1_Silent_p.L21L|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	21					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)	AGCCACTCACCAGGCCTGGGG	0.627000													13	57					0	0	1	0	0
MFSD2B	388931	broad.mit.edu	37	2	24246992	24246992	+	Silent	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:24246992C>T	ENST00000338315.4	+	13	1341	c.1341C>T	c.(1339-1341)tgC>tgT	p.C447C	MFSD2B_ENST00000406420.3_Silent_p.C447C			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	447					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CAGGGGTCTGCAAGCAAGCAG	0.617000													6	61					0	0	1	0	0
DOK7	285489	broad.mit.edu	37	4	3487294	3487294	+	Missense_Mutation	SNP	C	C	G	rs140026458		TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:3487294C>G	ENST00000507039.1	+	5	615	c.550C>G	c.(550-552)Cga>Gga	p.R184G	DOK7_ENST00000340083.5_Silent_p.A187A|DOK7_ENST00000389653.2_Silent_p.A187A	NM_001164673.1	NP_001158145.1	Q18PE1	DOK7_HUMAN	docking protein 7	460	IRS-type PTB.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGTCCTCGGCCGAGGGGGAGC	0.652000													12	105					0	0	1	0	0
ZBTB17	7709	broad.mit.edu	37	1	16269620	16269620	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:16269620G>A	ENST00000375733.2	-	13	2005	c.1767C>T	c.(1765-1767)agC>agT	p.S589S	ZBTB17_ENST00000537142.1_Silent_p.S507S|ZBTB17_ENST00000375743.4_Silent_p.S589S			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	589					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTGCACACGCTGCACTTGT	0.587000													14	144					0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762337	53762337	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:53762337A>C	ENST00000341702.3	+	1	793	c.709A>C	c.(709-711)Aac>Cac	p.N237H		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	237					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CAAATGGAGCAACAACAACAT	0.423000													46	172					0	0	1	0	0
FBXO34	55030	broad.mit.edu	37	14	55817637	55817637	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:55817637C>G	ENST00000313833.4	+	2	774	c.529C>G	c.(529-531)Cct>Gct	p.P177A	FBXO34_ENST00000440021.1_Missense_Mutation_p.P177A	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	177										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GTGCTACCAACCTGAGCCTTT	0.478000													37	86					0	0	1	0	0
FGF6	2251	broad.mit.edu	37	12	4554471	4554471	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:4554471T>C	ENST00000228837.2	-	1	309	c.266A>G	c.(265-267)tAc>tGc	p.Y89C		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	89					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			CACGTTGCAGTAGAGCCTCCG	0.642000													7	80					0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26694243	26694243	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:26694243C>T	ENST00000436292.1	-	3	280	c.160G>A	c.(160-162)Ggc>Agc	p.G54S	ZNF683_ENST00000403843.1_Missense_Mutation_p.G54S|ZNF683_ENST00000349618.3_Missense_Mutation_p.G54S|ZNF683_ENST00000374204.1_Missense_Mutation_p.G54S			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CAGGATGGGCCATGAGCATCC	0.657000													4	25					0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22836752	22836752	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:22836752C>A	ENST00000456783.2	+	3	309	c.65C>A	c.(64-66)aCc>aAc	p.T22N		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	22	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GACCTGATCACCTGTCTGGAG	0.408000													18	171					7.41877e-09	9.47777e-09	1	1	0
IYD	389434	broad.mit.edu	37	6	150710557	150710557	+	Missense_Mutation	SNP	A	A	T	rs143034765	by1000genomes	TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:150710557A>T	ENST00000344419.3	+	2	388	c.248A>T	c.(247-249)gAg>gTg	p.E83V	IYD_ENST00000425615.3_Missense_Mutation_p.E28V|IYD_ENST00000229447.5_Missense_Mutation_p.E83V|IYD_ENST00000392255.3_Missense_Mutation_p.E83V|IYD_ENST00000392256.2_Missense_Mutation_p.E83V|IYD_ENST00000500320.3_Missense_Mutation_p.E83V	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	83					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		CACTATCCTGAGAAGGAAATG	0.378000													22	124					0	0	1	0	0
OR2M7	391196	broad.mit.edu	37	1	248487433	248487433	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:248487433G>T	ENST00000317965.2	-	1	466	c.438C>A	c.(436-438)gcC>gcA	p.A146A		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			TCCAGGAGAAGGCAGTCATAA	0.473000													93	553					7.61764e-41	1.48852e-40	1	1	0
ZNF736	728927	broad.mit.edu	37	7	63797293	63797293	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:63797293G>A	ENST00000355095.4	+	4	481	c.159G>A	c.(157-159)atG>atA	p.M53I	ZNF736_ENST00000423484.1_Missense_Mutation_p.M53I	NM_001170905.1	NP_001164376.1	B4DX44	ZN736_HUMAN	zinc finger protein 736	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						CAGACTTGATGACCTGTCTGG	0.408000													3	26					0	0	1	0	0
FBXO28	23219	broad.mit.edu	37	1	224302034	224302034	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:224302034C>T	ENST00000366862.5	+	1	246	c.203C>T	c.(202-204)cCc>cTc	p.P68L	FBXO28_ENST00000424254.2_Missense_Mutation_p.P68L	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	68	F-box.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		GTGGCGCTGCCCATCGTAGCC	0.672000													4	13					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7759065	7759065	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:7759065C>A	ENST00000547372.1	+	16	1491	c.1185C>A	c.(1183-1185)gaC>gaA	p.D395E	RBFOX1_ENST00000422070.4_Silent_p.R378R|RBFOX1_ENST00000547338.1_Silent_p.R335R|RBFOX1_ENST00000311745.5_Silent_p.R356R|RBFOX1_ENST00000340209.4_Silent_p.R340R|RBFOX1_ENST00000436368.2_Silent_p.R356R|RBFOX1_ENST00000550418.1_Silent_p.R335R|RBFOX1_ENST00000553186.1_Silent_p.R308R|RBFOX1_ENST00000535565.2_Missense_Mutation_p.D309E|RBFOX1_ENST00000552089.1_Missense_Mutation_p.D369E|RBFOX1_ENST00000355637.4_Missense_Mutation_p.D373E			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	61					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CAGTTACGGACGAGTTTATGC	0.458000													18	116					5.3912e-06	6.19607e-06	1	1	0
EPHB1	2047	broad.mit.edu	37	3	134920415	134920415	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:134920415G>T	ENST00000398015.3	+	12	2600	c.2230G>T	c.(2230-2232)Gac>Tac	p.D744Y	EPHB1_ENST00000493838.1_Missense_Mutation_p.D305Y	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	744	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGTGCATCGGGACCTGGCTGC	0.552000													41	221					4.0492e-12	5.70337e-12	1	1	0
C2orf80	389073	broad.mit.edu	37	2	209049752	209049752	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:209049752C>A	ENST00000341287.4	-	3	241	c.46G>T	c.(46-48)Gat>Tat	p.D16Y	C2orf80_ENST00000453017.1_Missense_Mutation_p.D16Y|C2orf80_ENST00000451346.1_Intron	NM_001099334.2	NP_001092804.1	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	16										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						CCAATATAATCTCCCCTTAAA	0.463000													13	105					0.000151284	0.000164954	1	1	0
OR8B4	283162	broad.mit.edu	37	11	124294049	124294049	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:124294049C>T	ENST00000356130.3	-	1	740	c.719G>A	c.(718-720)tGg>tAg	p.W240*		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GTGGGAGCCCCATGTGCTAAA	0.458000													9	85					0	0	1	0	0
GSTA1	2938	broad.mit.edu	37	6	52664029	52664029	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:52664029G>T	ENST00000334575.5	-	2	192	c.37C>A	c.(37-39)Cgg>Agg	p.R13R	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	13	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	ATTCTGCCCCGTGCATTGAAG	0.453000													19	97					8.28177e-16	1.29521e-15	1	1	0
TMEM30A	55754	broad.mit.edu	37	6	75994418	75994418	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:75994418C>A	ENST00000230461.6	-	0	266				TMEM30A_ENST00000475111.2_De_novo_Start_OutOfFrame	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A							integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCGGCTGACCCTGACAGGAAC	0.701000													11	39					0.000673444	0.000713387	1	1	0
SLC5A1	6523	broad.mit.edu	37	22	32495173	32495173	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr22:32495173G>A	ENST00000266088.4	+	12	1534	c.1284G>A	c.(1282-1284)ttG>ttA	p.L428L	SLC5A1_ENST00000543737.1_Silent_p.L301L	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	428					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						ATTTCAGGTTGTTTATCCTGG	0.363000													33	176					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33141523	33141523	+	Splice_Site	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:33141523C>G	ENST00000341947.2	-	35	2811		c.e35-1		COL11A2_ENST00000374714.1_Splice_Site|COL11A2_ENST00000374713.1_Splice_Site|COL11A2_ENST00000374708.4_Splice_Site|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Splice_Site|COL11A2_ENST00000357486.1_Splice_Site|COL11A2_ENST00000361917.1_Splice_Site|COL11A2_ENST00000395197.1_Splice_Site	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2						cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CAGATGTTCCCTGTGGGGGGA	0.637000													10	57					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51442778	51442778	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:51442778T>A	ENST00000522124.1	+	10	1169	c.508T>A	c.(508-510)Tgt>Agt	p.C170S	SNTG1_ENST00000276467.5_Missense_Mutation_p.C170S|SNTG1_ENST00000518864.1_Missense_Mutation_p.C170S|SNTG1_ENST00000517473.1_Missense_Mutation_p.C170S	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	170					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)				CTCTCCTCTCTGTGACAGTGG	0.438000													24	100					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8224171	8224171	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:8224171G>C	ENST00000361926.3	+	16	2496	c.2386G>C	c.(2386-2388)Ggg>Cgg	p.G796R	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.G796R	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	796					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TTGGCTGAAGGGGCTTCCTGG	0.632000													11	81					0	0	1	0	0
FUK	197258	broad.mit.edu	37	16	70501839	70501839	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:70501839G>T	ENST00000288078.6	+	8	865	c.633G>T	c.(631-633)cgG>cgT	p.R211R	FUK_ENST00000378912.2_Silent_p.R243R|FUK_ENST00000571514.1_Intron	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	211						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				AGATTCAGCGGTGTGTCAGGC	0.597000													12	95					2.80697e-09	3.63279e-09	1	1	0
ELTD1	64123	broad.mit.edu	37	1	79402048	79402048	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:79402048G>A	ENST00000370742.3	-	7	872	c.809C>T	c.(808-810)cCt>cTt	p.P270L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	270					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ATTCATATGAGGATGAATATG	0.264000													31	159					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113558280	113558280	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:113558280C>A	ENST00000284601.3	-	1	840	c.772G>T	c.(772-774)Gta>Tta	p.V258L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	258					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTGATTTTACCTTTAAGCAG	0.303000													51	171					1.56989e-16	2.49451e-16	1	1	0
CST9L	128821	broad.mit.edu	37	20	23546694	23546694	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:23546694G>A	ENST00000376979.3	-	2	569	c.271C>T	c.(271-273)Cta>Tta	p.L91L		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	91						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CCCAGCAGTAGCTCCATTGAG	0.468000													43	236					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43908259	43908259	+	Silent	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:43908259C>T	ENST00000314537.5	+	8	948	c.723C>T	c.(721-723)ccC>ccT	p.P241P	CRHR1_ENST00000352855.5_Silent_p.P201P|CRHR1_ENST00000293493.7_Silent_p.P66P|CRHR1_ENST00000398285.3_Silent_p.P270P|CRHR1_ENST00000577353.1_Silent_p.P241P|CRHR1_ENST00000339069.5_Silent_p.P140P	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	270					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		TGCCCTTCCCCATCATTGTGG	0.612000													14	73					0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5363856	5363856	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:5363856G>T	ENST00000300773.2	-	1	953	c.899C>A	c.(898-900)gCc>gAc	p.A300D	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGAAGAATGGCATTCTGAAT	0.383000													10	137					2.74318e-10	3.63991e-10	1	1	0
PROK1	84432	broad.mit.edu	37	1	110996623	110996623	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:110996623G>A	ENST00000271331.3	+	2	130	c.113G>A	c.(112-114)tGt>tAt	p.C38Y		NM_032414.2	NP_115790.1	P58294	PROK1_HUMAN	prokineticin 1	38					angiogenesis|positive regulation of cell division	extracellular region	growth factor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9		all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGCACCTGCTGTGCCATCAGC	0.627000													11	61					0	0	1	0	0
MFF	56947	broad.mit.edu	37	2	228211992	228211992	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:228211992C>T	ENST00000353339.3	+	8	1085	c.644C>T	c.(643-645)cCt>cTt	p.P215L	MFF_ENST00000304593.9_Missense_Mutation_p.P164L|MFF_ENST00000524634.1_Intron|MFF_ENST00000337110.7_Intron|MFF_ENST00000354503.6_Intron|MFF_ENST00000392059.1_Missense_Mutation_p.P215L|MFF_ENST00000349901.7_Intron|MFF_ENST00000409616.1_Intron|MFF_ENST00000409565.1_Intron|MFF_ENST00000476924.1_Intron	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	215						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CATATGTTACCTGAAGATGGA	0.468000													33	196					0	0	1	0	0
PMPCA	23203	broad.mit.edu	37	9	139306551	139306551	+	Silent	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr9:139306551A>T	ENST00000371717.3	+	2	183	c.174A>T	c.(172-174)acA>acT	p.T58T	PMPCA_ENST00000371720.1_Silent_p.T58T|PMPCA_ENST00000399219.3_5'UTR	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	58					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TTTTTGCTACAGTTGATGGAC	0.468000													43	245					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79572022	79572022	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:79572022C>A	ENST00000372391.2	-	21	4144	c.4139G>T	c.(4138-4140)gGg>gTg	p.G1380V	DLG5_ENST00000372388.2_Missense_Mutation_p.G1040V|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1380	PDZ 3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGCGATGCTCCCCACGGTCAC	0.617000													39	90					5.04308e-16	7.97074e-16	1	1	0
MIR518F	574472	broad.mit.edu	37	19	54203284	54203284	+	RNA	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:54203284C>A	ENST00000384973.1	+	0	16					NR_030194.1																						TGCTGTGACCCTCTAGAGGGA	0.383000													59	191					1.08141e-31	2.04596e-31	1	1	0
RELN	5649	broad.mit.edu	37	7	103293053	103293053	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:103293053G>A	ENST00000428762.1	-	14	1867	c.1708C>T	c.(1708-1710)Cac>Tac	p.H570Y	RELN_ENST00000424685.2_Missense_Mutation_p.H570Y|RELN_ENST00000343529.5_Missense_Mutation_p.H570Y	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	570					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGTATCATGTGAGACATTGTA	0.408000													16	175					0	0	1	0	0
TNNT2	7139	broad.mit.edu	37	1	201334385	201334385	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:201334385C>A	ENST00000509001.1	-	9	601	c.315G>T	c.(313-315)ctG>ctT	p.L105L	TNNT2_ENST00000367317.4_Silent_p.L105L|TNNT2_ENST00000367318.5_Silent_p.L105L|TNNT2_ENST00000367320.2_Intron|TNNT2_ENST00000367322.1_Silent_p.L105L|TNNT2_ENST00000360372.4_Silent_p.L100L|TNNT2_ENST00000458432.2_Silent_p.L117L|TNNT2_ENST00000421663.2_Silent_p.L107L|TNNT2_ENST00000236918.7_Silent_p.L110L|TNNT2_ENST00000367315.2_Silent_p.L105L	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	115					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						GAGCCTCGATCAGCGCCTGCA	0.557000													37	228					6.97489e-18	1.14707e-17	1	1	0
CARD11	84433	broad.mit.edu	37	7	2952951	2952951	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:2952951C>T	ENST00000396946.4	-	22	3392	c.2989G>A	c.(2989-2991)Ggt>Agt	p.G997S		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	997	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCATGGCACCTCCCGAGTTG	0.667000			Mis		DLBCL								28	164					0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145551512	145551512	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:145551512C>A	ENST00000394434.2	-	4	421	c.255G>T	c.(253-255)ctG>ctT	p.L85L	LARS_ENST00000510191.1_Silent_p.L31L|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000545646.1_Silent_p.L85L|LARS_ENST00000274562.9_Intron	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	85					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CAAAGGGAAACAGACAACATT	0.343000													28	119					2.48696e-23	4.42401e-23	1	1	0
SLITRK6	84189	broad.mit.edu	37	13	86368171	86368171	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr13:86368171C>A	ENST00000400286.2	-	2	3071	c.2473G>T	c.(2473-2475)Gct>Tct	p.A825S		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	825						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGTAAATTAGCTTTAAGTTCA	0.388000													25	117					5.35356e-11	7.26554e-11	1	1	0
NEUROG2	63973	broad.mit.edu	37	4	113436144	113436144	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:113436144G>A	ENST00000313341.3	-	2	814	c.488C>T	c.(487-489)gCa>gTa	p.A163V		NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	163	Helix-loop-helix motif.				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		CTCGGTGAGTGCCCAGATGTA	0.711000													5	46					0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155270071	155270071	+	Splice_Site	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:155270071C>A	ENST00000392414.3	-	2	121	c.7_splice	c.e2-1	p.G3_splice	PKLR_ENST00000342741.4_Splice_Site_p.G34_splice	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	34					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CCCCGCTGGCCCTGTGGTAGA	0.622000													3	19					0.004672	0.00484564	1	1	0
MICALCL	84953	broad.mit.edu	37	11	12315837	12315837	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:12315837A>T	ENST00000256186.2	+	3	1150	c.859A>T	c.(859-861)Aac>Tac	p.N287Y		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	287					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CCTCCTTTCCAACTCTGAAGG	0.567000													25	78					0	0	1	0	0
PPP2R2A	5520	broad.mit.edu	37	8	26227802	26227802	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:26227802A>T	ENST00000380737.3	+	10	1546	c.1217A>T	c.(1216-1218)gAt>gTt	p.D406V	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.D416V	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		CGAAAGAAAGATGAAATAAGT	0.448000													7	99					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179320211	179320211	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:179320211C>A	ENST00000356834.3	-	5	871	c.834G>T	c.(832-834)aaG>aaT	p.K278N	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.K278N	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	278						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAACGCACCGCTTCAGGGCTG	0.647000													13	64					0.000151284	0.000164954	1	1	0
SYCP1	6847	broad.mit.edu	37	1	115537563	115537563	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:115537563C>G	ENST00000369522.3	+	32	3094	c.2854C>G	c.(2854-2856)Cgg>Ggg	p.R952G	SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Missense_Mutation_p.R952G	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	952					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGAAAAATGCGGGAGGACCG	0.328000													21	158					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118440693	118440693	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:118440693C>T	ENST00000369209.3	-	9	1101	c.997G>A	c.(997-999)Gga>Aga	p.G333R		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	333							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TTAAGGTGTCCCTCCGGTAAC	0.483000													10	73					0	0	1	0	0
KLHL32	114792	broad.mit.edu	37	6	97561769	97561769	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:97561769G>T	ENST00000369261.4	+	7	1101	c.738G>T	c.(736-738)ctG>ctT	p.L246L	KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000539200.1_Silent_p.L177L|KLHL32_ENST00000536676.1_Silent_p.L210L	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	246										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CAGTTGCCCTGTCCCACCCCC	0.542000													31	160					5.60225e-13	8.17452e-13	1	1	0
TPTE	7179	broad.mit.edu	37	21	10934045	10934045	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr21:10934045G>T	ENST00000298232.7	-	15	1245	c.878C>A	c.(877-879)aCt>aAt	p.T293N	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.T311N|TPTE_ENST00000342420.5_Missense_Mutation_p.T273N	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	311	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTACTGTAGAGTGGGGACATT	0.299000													34	421					4.65686e-17	7.54733e-17	1	1	0
FAM135A	57579	broad.mit.edu	37	6	71234773	71234773	+	Silent	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:71234773T>C	ENST00000418814.2	+	15	2600	c.1986T>C	c.(1984-1986)agT>agC	p.S662S	FAM135A_ENST00000457062.2_Silent_p.S449S|FAM135A_ENST00000505868.1_Silent_p.S662S|FAM135A_ENST00000370479.3_Silent_p.S449S|FAM135A_ENST00000505769.1_Silent_p.S466S|FAM135A_ENST00000361499.3_Silent_p.S466S	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	662										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TAAAGCCCAGTAATAAAGATC	0.398000													34	152					0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32616905	32616905	+	Splice_Site	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr22:32616905A>T	ENST00000266086.4	-	14	1780		c.e14+1		RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4						carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ACCAAATATTACCTTCTTCAA	0.408000													12	162					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237632444	237632444	+	Silent	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:237632444C>T	ENST00000366574.2	+	17	1982	c.1665C>T	c.(1663-1665)ctC>ctT	p.L555L	RYR2_ENST00000542537.1_Silent_p.L539L|RYR2_ENST00000360064.6_Silent_p.L553L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	555					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.L553L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGGCTCCCTCGACTGGTTGA	0.383000													15	77					0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82940336	82940336	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:82940336G>T	ENST00000274341.4	-	4	1471	c.621C>A	c.(619-621)gcC>gcA	p.A207A		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	207	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TGAGCCAGCCGGCATTGCACC	0.617000													27	72					7.01153e-11	9.45816e-11	1	1	0
DEFB119	245932	broad.mit.edu	37	20	29976959	29976959	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:29976959G>A	ENST00000376315.2	-	2	135	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C	DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000492344.1_Intron	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	defensin, beta 119	52					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CACCGTTTACGATTTCGGCAG	0.458000													27	170					0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146651245	146651245	+	RNA	SNP	A	A	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:146651245A>G	ENST00000607149.1	+	0	350																											GGACTCTTCCACCAGAGATGG	0.453000													5	38					0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119549454	119549454	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:119549454T>A	ENST00000264025.3	-	2	631	c.101A>T	c.(100-102)cAg>cTg	p.Q34L	PVRL1_ENST00000341398.2_Missense_Mutation_p.Q34L|PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Missense_Mutation_p.Q34L	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	34	Ig-like V-type.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTCGTTCACCTGGACCACCTG	0.612000													7	29					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227662659	227662659	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:227662659G>A	ENST00000305123.4	-	1	1816	c.796C>T	c.(796-798)Cct>Tct	p.P266S		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	266					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TTGCTGCGAGGGCGGAACTCA	0.642000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	157					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527589	23527589	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:23527589C>A	ENST00000296682.3	+	11	2574	c.2392C>A	c.(2392-2394)Cac>Aac	p.H798N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	798					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						CCAGAGGACACACACAGGGGA	0.572000										HNSCC(3;0.000094)			57	419					1.80625e-27	3.32574e-27	1	1	0
GALNT3	2591	broad.mit.edu	37	2	166618462	166618462	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:166618462C>T	ENST00000392701.3	-	4	1566	c.791G>A	c.(790-792)gGa>gAa	p.G264E		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	264	Catalytic subdomain A.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						GACTGTTGCTCCTAGCAACCG	0.363000													21	133					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													6	49					0	0	1	0	0
SAP30L	79685	broad.mit.edu	37	5	153835469	153835469	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:153835469C>A	ENST00000297109.6	+	4	1081	c.433C>A	c.(433-435)Cga>Aga	p.R145R	SAP30L_ENST00000426761.2_Silent_p.R99R|SAP30L_ENST00000440364.2_Silent_p.R104R|SAP30L_ENST00000523198.1_3'UTR	NM_024632.5	NP_078908.1	Q9HAJ7	SP30L_HUMAN	SAP30-like	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|metal ion binding			breast(1)|lung(3)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GACTGTGAGTCGACACTTCAG	0.428000													54	248					1.17673e-23	2.10585e-23	1	1	0
SEMA5A	9037	broad.mit.edu	37	5	9066734	9066734	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:9066734G>A	ENST00000382496.5	-	17	2763	c.2098C>T	c.(2098-2100)Ccg>Tcg	p.P700S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	700	TSP type-1 3.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TCAGGACACGGGTTGGTGTTG	0.542000													14	216					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33559973	33559973	+	Silent	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:33559973A>T	ENST00000228567.3	-	3	1124	c.828T>A	c.(826-828)ctT>ctA	p.L276L	SYT10_ENST00000535526.1_Silent_p.L95L	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	276	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TCCTATCTGGAAGAAGATACA	0.343000													7	123					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179451986	179451986	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:179451986G>T	ENST00000589042.1	-	307	64176	c.63952C>A	c.(63952-63954)Cca>Aca	p.P21318T	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12445T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P12253T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P19677T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P18750T|TTN_ENST00000359218.5_Missense_Mutation_p.P12378T|TTN-AS1_ENST00000590743.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19677	Ig-like 113.						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)			TTAACTTCTGGGGTAACGGTC	0.498000													27	173					4.72057e-08	5.90402e-08	1	1	0
ABCG5	64240	broad.mit.edu	37	2	44050016	44050016	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:44050016C>T	ENST00000543989.1	-	6	1903	c.198G>A	c.(196-198)tgG>tgA	p.W66*	ABCG5_ENST00000260645.1_Nonsense_Mutation_p.W461*|ABCG5_ENST00000405322.1_Nonsense_Mutation_p.W290*			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	461	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCATCATCTGCCACTTCTGGT	0.567000													9	51					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322591	55322591	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:55322591C>T	ENST00000314644.2	+	1	809	c.809C>T	c.(808-810)tCc>tTc	p.S270F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTGCTTGTCTCCTATGCTGTC	0.468000										HNSCC(20;0.049)			17	192					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128294836	128294836	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:128294836C>T	ENST00000368227.3	-	29	4523	c.4157G>A	c.(4156-4158)gGg>gAg	p.G1386E	PTPRK_ENST00000532331.1_Missense_Mutation_p.G1391E|PTPRK_ENST00000368226.4_Missense_Mutation_p.G1369E|PTPRK_ENST00000368215.3_Missense_Mutation_p.G1368E|PTPRK_ENST00000368213.5_Missense_Mutation_p.G1375E|PTPRK_ENST00000368207.3_Missense_Mutation_p.G1401E|PTPRK_ENST00000368210.3_Missense_Mutation_p.G1387E			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1368	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCGGCCTTCCCCTTCCTCGCA	0.483000													20	135					0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40804844	40804844	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr22:40804844C>A	ENST00000248929.9	+	18	2089	c.1900C>A	c.(1900-1902)Cgg>Agg	p.R634R	SGSM3_ENST00000454798.2_Silent_p.R567R	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	634	RUN.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GCTGCTCTACCGGGTAAGGGG	0.657000													11	90					2.80697e-09	3.63279e-09	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40368319	40368319	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:40368319C>A	ENST00000221347.6	-	28	13036	c.13029G>T	c.(13027-13029)cgG>cgT	p.R4343R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4343						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAACCTGTGCCCGCCAGTCTT	0.647000													20	182					5.35356e-11	7.26554e-11	1	1	0
HCN1	348980	broad.mit.edu	37	5	45262540	45262540	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:45262540T>C	ENST00000303230.4	-	8	2213	c.2156A>G	c.(2155-2157)tAt>tGt	p.Y719C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	719						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGGGGAGGCATAGTGGAAAGT	0.657000													12	66					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7340371	7340371	+	Splice_Site	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:7340371G>T	ENST00000486284.1	+	3	1011	c.736_splice	c.e3-1	p.G246_splice	GRM7_ENST00000403881.1_Splice_Site_p.G246_splice|GRM7_ENST00000357716.4_Splice_Site_p.G246_splice|GRM7_ENST00000389336.4_Splice_Site_p.G246_splice|GRM7_ENST00000402647.2_Splice_Site_p.G246_splice	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	246					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TCTTAAACAGGTGGACTCTGC	0.463000													15	88					1.15088e-07	1.41756e-07	1	1	0
ZNF547	284306	broad.mit.edu	37	19	57888723	57888723	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:57888723G>T	ENST00000282282.3	+	4	529	c.379G>T	c.(379-381)Gag>Tag	p.E127*	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCACCAAAAGGAGCAGATTAG	0.512000													22	145					5.26018e-13	7.70056e-13	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113484840	113484840	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:113484840A>G	ENST00000297405.5	-	32	5619	c.5375T>C	c.(5374-5376)aTa>aCa	p.I1792T	CSMD3_ENST00000455883.2_Missense_Mutation_p.I1688T|CSMD3_ENST00000343508.3_Missense_Mutation_p.I1752T|CSMD3_ENST00000352409.3_Missense_Mutation_p.I1792T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1792	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGAACTGCTATAGAATAAAC	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			16	203					0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54347997	54347997	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:54347997C>A	ENST00000306888.2	-	6	1338	c.1087G>T	c.(1087-1089)Gtc>Ttc	p.V363F	LNX1_ENST00000263925.7_Missense_Mutation_p.V459F|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	459						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CGGGACACGACGAGGTGAACA	0.577000													22	86					4.35082e-09	5.62269e-09	1	1	0
GRXCR1	389207	broad.mit.edu	37	4	43032481	43032481	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:43032481C>A	ENST00000399770.2	+	4	797	c.797C>A	c.(796-798)aCa>aAa	p.T266K		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	266					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AACTGCTTCACAGACTCTTTC	0.478000													36	340					9.45814e-24	1.69601e-23	1	1	0
SLC6A2	6530	broad.mit.edu	37	16	55735780	55735780	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:55735780G>A	ENST00000379906.2	+	13	2019	c.1764G>A	c.(1762-1764)ctG>ctA	p.L588L	SLC6A2_ENST00000414754.3_Silent_p.L532L|SLC6A2_ENST00000561820.1_Intron|SLC6A2_ENST00000567238.1_Silent_p.L483L|SLC6A2_ENST00000219833.8_Silent_p.L588L|SLC6A2_ENST00000566163.1_Silent_p.L543L|SLC6A2_ENST00000568943.1_Silent_p.L588L	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	588					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TTCAGAGACTGGCCTATGGCA	0.602000											OREG0023807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	110					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183674632	183674632	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:183674632T>A	ENST00000511685.1	+	21	4015	c.3892T>A	c.(3892-3894)Tac>Aac	p.Y1298N	TENM3_ENST00000406950.2_Missense_Mutation_p.Y1298N|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		TGGATTAATCTACTTTGTTGA	0.343000													23	106					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98820481	98820481	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:98820481C>A	ENST00000266058.4	-	9	1102	c.857G>T	c.(856-858)tGc>tTc	p.C286F	SLIT1_ENST00000371070.4_Missense_Mutation_p.C286F|SLIT1_ENST00000371041.3_Missense_Mutation_p.C286F|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	286	LRRNT 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCTGCAGGTGCACATGGCCGG	0.662000													23	44					7.87624e-14	1.17225e-13	1	1	0
BMS1	9790	broad.mit.edu	37	10	43288463	43288463	+	Silent	SNP	T	T	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:43288463T>G	ENST00000374518.4	+	8	1023	c.960T>G	c.(958-960)ccT>ccG	p.P320P		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	320					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCGCTCTTCCTGAACAACAAA	0.493000													16	236					0	0	1	0	0
TSPAN5	10098	broad.mit.edu	37	4	99399939	99399939	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:99399939C>A	ENST00000305798.3	-	5	875	c.473G>T	c.(472-474)gGa>gTa	p.G158V	TSPAN5_ENST00000505184.1_Missense_Mutation_p.G87V|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	158						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		ATCATCAGCTCCAAAAGCCCC	0.483000													6	63					0.000157383	0.000170769	1	1	0
OR4A47	403253	broad.mit.edu	37	11	48510424	48510424	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:48510424T>C	ENST00000446524.1	+	1	156	c.80T>C	c.(79-81)gTt>gCt	p.V27A		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GTACTTTTTGTTATGTTCTTG	0.438000													11	62					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283554	152283554	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:152283554C>A	ENST00000368799.1	-	3	3843	c.3808G>T	c.(3808-3810)Gtt>Ttt	p.V1270F	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1270	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)			TCCTGGCTAACACTGGATCCC	0.552000									Ichthyosis				40	560					9.62906e-15	1.46736e-14	1	1	0
CDH12	1010	broad.mit.edu	37	5	21817225	21817225	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:21817225T>A	ENST00000382254.1	-	9	1917	c.831A>T	c.(829-831)aaA>aaT	p.K277N	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.K277N|CDH12_ENST00000522262.1_Missense_Mutation_p.K237N	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	277	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ACTCAGGAACTTTCAAGTGGA	0.363000										HNSCC(59;0.17)			27	162					0	0	1	0	0
IGSF11	152404	broad.mit.edu	37	3	118624498	118624498	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:118624498C>A	ENST00000354673.2	-	7	1025	c.645G>T	c.(643-645)gtG>gtT	p.V215V	IGSF11_ENST00000441144.2_Intron|IGSF11_ENST00000489689.1_Intron|IGSF11_ENST00000393775.2_Silent_p.V216V|IGSF11_ENST00000425327.2_Silent_p.V215V|IGSF11_ENST00000491903.1_Silent_p.V216V	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	216	Ig-like C2-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CATTAGAAGCCACGCACTGGT	0.463000													29	147					1.2476e-16	1.99303e-16	1	1	0
RGS4	5999	broad.mit.edu	37	1	163042602	163042602	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:163042602C>A	ENST00000421743.2	+	4	608	c.448C>A	c.(448-450)Caa>Aaa	p.Q150K	RGS4_ENST00000367909.6_Missense_Mutation_p.Q53K|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367908.4_Missense_Mutation_p.Q53K|RGS4_ENST00000367906.3_Missense_Mutation_p.Q35K|RGS4_ENST00000531057.1_Missense_Mutation_p.Q53K|RGS4_ENST00000527809.1_Missense_Mutation_p.Q35K	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	53	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TAGAGTGAGCCAAGAGGAAGT	0.388000													10	58					3.07112e-06	3.56633e-06	1	1	0
NEDD8	4738	broad.mit.edu	37	14	24701553	24701553	+	Translation_Start_Site	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:24701553T>A	ENST00000250495.5	-	0	107				NEDD8-MDP1_ENST00000534348.1_De_novo_Start_InFrame|NEDD8_ENST00000524927.1_De_novo_Start_InFrame|NEDD8_ENST00000533242.1_5'UTR	NM_006156.2	NP_006147.1			neural precursor cell expressed, developmentally down-regulated 8											breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5				GBM - Glioblastoma multiforme(265;0.0186)		TCCAGCACTCTTGCCTGCAAG	0.612000													6	36					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136888992	136888992	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:136888992G>A	ENST00000359015.4	-	26	3898	c.3538C>T	c.(3538-3540)Ctt>Ttt	p.L1180F	MAP3K5_ENST00000355845.4_Missense_Mutation_p.L427F	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1180					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCAGATGCAAGGCTGAAATGT	0.403000													10	112					0	0	1	0	0
AIFM3	150209	broad.mit.edu	37	22	21330009	21330009	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr22:21330009C>T	ENST00000399167.2	+	9	989	c.749C>T	c.(748-750)gCc>gTc	p.A250V	AIFM3_ENST00000405089.1_Missense_Mutation_p.A256V|AIFM3_ENST00000440238.2_Missense_Mutation_p.A250V|AIFM3_ENST00000399163.2_Missense_Mutation_p.A250V|AIFM3_ENST00000333607.6_Missense_Mutation_p.A250V|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000335375.5_Missense_Mutation_p.A238V	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GAGCAGCTGGCCCTGAGGCCC	0.627000													25	178					0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119945526	119945526	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:119945526G>A	ENST00000297350.4	-	2	422	c.44C>T	c.(43-45)tCc>tTc	p.S15F		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	15					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CCACTTAATGGAGATGTCCAG	0.423000													63	262					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179562674	179562674	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:179562674G>T	ENST00000444136.1	+	3	562	c.312G>T	c.(310-312)atG>atT	p.M104I	TDRD5_ENST00000367614.1_Missense_Mutation_p.M104I|TDRD5_ENST00000294848.8_Missense_Mutation_p.M104I	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	104			M -> T (in dbSNP:rs12066948).		DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GAAACTCAATGCATAAGGGAA	0.448000													19	100					3.32936e-07	4.05057e-07	1	1	0
KIAA0226L	80183	broad.mit.edu	37	13	46942216	46942216	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr13:46942216C>G	ENST00000429979.1	-	5	1391	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	KIAA0226L_ENST00000389908.3_Missense_Mutation_p.E263Q|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.E196Q|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.E263Q|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.E263Q|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.E128Q|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.E106Q|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.E263Q|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.E106Q	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	263										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GACCCAGACTCTTGCTTTATG	0.413000													52	209					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6611597	6611597	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:6611597G>T	ENST00000285599.3	+	13	2115	c.2079G>T	c.(2077-2079)ggG>ggT	p.G693G	MAN2B2_ENST00000504248.1_Silent_p.G642G|MAN2B2_ENST00000504960.1_3'UTR	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	693					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GCCATGACGGGGAGCTGCTCT	0.602000													16	120					2.23348e-06	2.61403e-06	1	1	0
GYS2	2998	broad.mit.edu	37	12	21721925	21721925	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:21721925C>A	ENST00000261195.2	-	5	951	c.697G>T	c.(697-699)Gct>Tct	p.A233S		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	233					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTTTCCCCAGCCTCTTTGTCA	0.423000													50	144					1.47857e-17	2.42714e-17	1	1	0
KCND2	3751	broad.mit.edu	37	7	119915493	119915493	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:119915493C>A	ENST00000331113.4	+	1	1772	c.807C>A	c.(805-807)gcC>gcA	p.A269A		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	269					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					ACGTGGTGGCCATCCTGCCTT	0.512000													8	120					0.0581538	0.0590129	1	1	0
ZMYND8	23613	broad.mit.edu	37	20	45865254	45865254	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:45865254T>A	ENST00000311275.7	-	16	2865	c.2612A>T	c.(2611-2613)cAg>cTg	p.Q871L	ZMYND8_ENST00000355972.4_Missense_Mutation_p.Q871L|ZMYND8_ENST00000536340.1_Missense_Mutation_p.Q898L|ZMYND8_ENST00000396281.4_Missense_Mutation_p.Q871L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.Q845L|ZMYND8_ENST00000540497.1_Missense_Mutation_p.Q819L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.Q820L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.Q891L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.Q820L|ZMYND8_ENST00000446994.2_Missense_Mutation_p.Q762L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.Q845L|ZMYND8_ENST00000458360.2_Missense_Mutation_p.Q739L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.Q825L			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	871							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTCCTTCTGCTGGACAGCTAG	0.572000													24	58					0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5410739	5410739	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:5410739C>A	ENST00000328611.3	+	1	133	c.111C>A	c.(109-111)caC>caA	p.H37Q	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	37						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCATCAAACACTGGATTTTCA	0.418000													25	205					8.24728e-16	1.29207e-15	1	1	0
APOL5	80831	broad.mit.edu	37	22	36123211	36123211	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr22:36123211G>T	ENST00000249044.2	+	3	1096	c.1096G>T	c.(1096-1098)Gtt>Ttt	p.V366F		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	366					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						GGGCAGGGCTGTTCGAGGATC	0.607000													16	101					2.35188e-11	3.22121e-11	1	1	0
LRRC48	83450	broad.mit.edu	37	17	17891328	17891328	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:17891328G>T	ENST00000313838.8	+	6	739	c.360G>T	c.(358-360)cgG>cgT	p.R120R	LRRC48_ENST00000399187.1_Silent_p.R120R|LRRC48_ENST00000411504.2_Silent_p.R120R|LRRC48_ENST00000584166.1_Silent_p.R120R|LRRC48_ENST00000399182.1_Silent_p.R120R	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	120						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TCAACAACCGGATCTCCAAGA	0.557000													15	71					0.00244969	0.0025526	1	1	0
FBXO34	55030	broad.mit.edu	37	14	55817636	55817636	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:55817636A>T	ENST00000313833.4	+	2	773	c.528A>T	c.(526-528)caA>caT	p.Q176H	FBXO34_ENST00000440021.1_Missense_Mutation_p.Q176H	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	176										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						GGTGCTACCAACCTGAGCCTT	0.478000													37	86					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30990839	30990839	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:30990839G>T	ENST00000262519.8	+	14	4418	c.3732G>T	c.(3730-3732)gaG>gaT	p.E1244D		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						AGGAAGAGGAGGCTGAGCCAG	0.711000													4	13					0.00024832	0.000266526	1	1	0
MIR548A1	693125	broad.mit.edu	37	6	18572083	18572083	+	RNA	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:18572083G>T	ENST00000385041.1	+	0	69					NR_030312.1																						gacaaaactggcaattacttt	0.343000													21	59					1.00905e-13	1.49433e-13	1	1	0
OR1S1	219959	broad.mit.edu	37	11	57982271	57982271	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:57982271C>A	ENST00000309433.6	+	1	55	c.55C>A	c.(55-57)Caa>Aaa	p.Q19K		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TCAAGGAAACCAAACCACCAT	0.408000													14	192					1.5842e-08	2.00665e-08	1	1	0
AKAP3	10566	broad.mit.edu	37	12	4736536	4736536	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:4736536T>C	ENST00000545990.2	-	5	2056	c.1532A>G	c.(1531-1533)gAg>gGg	p.E511G	AKAP3_ENST00000228850.1_Missense_Mutation_p.E511G	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	511					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CTCAGGTTTCTCTGGAGGATA	0.493000													27	57					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46611730	46611730	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:46611730G>T	ENST00000263734.3	+	16	3054	c.2544G>T	c.(2542-2544)gtG>gtT	p.V848V		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	848	CTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AGGTGAACGTGCCCGTGCTGG	0.622000													17	116					1.15088e-07	1.41756e-07	1	1	0
NRCAM	4897	broad.mit.edu	37	7	107836279	107836279	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:107836279G>T	ENST00000379028.3	-	15	1859	c.1389C>A	c.(1387-1389)ctC>ctA	p.L463L	NRCAM_ENST00000351718.4_Silent_p.L457L|NRCAM_ENST00000379022.4_Silent_p.L463L|NRCAM_ENST00000413765.2_Silent_p.L444L|NRCAM_ENST00000379024.4_Silent_p.L444L|NRCAM_ENST00000425651.2_Silent_p.L463L			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	463	Ig-like 5.				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						TGACCTGGTAGAGTGTGTTTG	0.408000													7	54					8.12818e-05	8.95002e-05	1	1	0
GNAO1	2775	broad.mit.edu	37	16	56362655	56362655	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:56362655A>G	ENST00000262494.7	+	4	676	c.416A>G	c.(415-417)gAg>gGg	p.E139G	GNAO1_ENST00000262493.6_Missense_Mutation_p.E139G	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	139					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				GGAATCCAAGAGTGCTTCAAC	0.597000													7	90					0	0	1	0	0
CHP2	63928	broad.mit.edu	37	16	23767749	23767749	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:23767749C>A	ENST00000300113.2	+	5	816	c.393C>A	c.(391-393)atC>atA	p.I131I		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	131	EF-hand 3.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		ATGGGAAGATCTCCAGGCATG	0.542000													13	53					0.000308642	0.000330081	1	1	0
NLRP5	126206	broad.mit.edu	37	19	56544033	56544033	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:56544033G>T	ENST00000390649.3	+	8	2333	c.2333G>T	c.(2332-2334)gGc>gTc	p.G778V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	778						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCCATGCTTGGCACCCACCCA	0.582000													30	84					7.26314e-15	1.10872e-14	1	1	0
PCDHA7	56141	broad.mit.edu	37	5	140215625	140215625	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:140215625G>T	ENST00000525929.1	+	1	1657	c.1657G>T	c.(1657-1659)Gtg>Ttg	p.V553L	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.V553L|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCTGCAGGTGTTCGTGCT	0.687000													50	168					1.51926e-22	2.66541e-22	1	1	0
SLC22A2	6582	broad.mit.edu	37	6	160679514	160679514	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:160679514G>T	ENST00000366952.1	-	3	1694	c.213C>A	c.(211-213)taC>taA	p.Y71*	SLC22A2_ENST00000491092.1_5'UTR|SLC22A2_ENST00000366953.3_Nonsense_Mutation_p.Y92*			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	92					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		AGTCCACCTCGTAGCGCCTAC	0.677000													28	143					1.17739e-12	1.70407e-12	1	1	0
ZSCAN4	201516	broad.mit.edu	37	19	58187604	58187604	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:58187604C>A	ENST00000318203.5	+	3	788	c.91C>A	c.(91-93)Cct>Act	p.P31T		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	31					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGCCAAGGACCTGCTGTTCA	0.388000													20	178					9.7654e-05	0.000107263	1	1	0
SCN8A	6334	broad.mit.edu	37	12	52115610	52115610	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:52115610G>C	ENST00000354534.5	+	12	2094	c.1916G>C	c.(1915-1917)cGc>cCc	p.R639P	SCN8A_ENST00000545061.1_Missense_Mutation_p.R639P|SCN8A_ENST00000550891.1_Missense_Mutation_p.R639P	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	639					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGCGTGAAGCGCAACAGCACG	0.692000													40	80					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33291826	33291826	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:33291826T>A	ENST00000280979.4	+	13	4977	c.4807T>A	c.(4807-4809)Tat>Aat	p.Y1603N	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1603	Ser-rich.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTTGACTTCCTATAAAAGCAA	0.433000													34	223					0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128910458	128910458	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:128910458A>G	ENST00000375990.3	+	19	2448	c.2045A>G	c.(2044-2046)tAc>tGc	p.Y682C	UGGT1_ENST00000259253.6_Missense_Mutation_p.Y706C			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	706					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GAACGAGACTACCTGGATTTA	0.373000													34	204					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36491493	36491493	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:36491493T>C	ENST00000342292.4	-	6	1407	c.1387A>G	c.(1387-1389)Atc>Gtc	p.I463V		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	463						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTGAGTATGATGGTGCCGTAG	0.537000													11	84					0	0	1	0	0
MKKS	8195	broad.mit.edu	37	20	10393889	10393889	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:10393889C>A	ENST00000347364.2	-	3	1036	c.274G>T	c.(274-276)Ggc>Tgc	p.G92C		NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	92					brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						GTGAATAAGCCACAATCACTG	0.413000													16	168					3.41278e-10	4.51499e-10	1	1	0
SNRNP200	23020	broad.mit.edu	37	2	96951077	96951077	+	Splice_Site	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:96951077C>A	ENST00000323853.5	-	30	4082	c.4003_splice	c.e30-1	p.V1335_splice	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1335						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CAGTGTTAAACACTGGAAACC	0.468000													17	103					4.7546e-09	6.13564e-09	1	1	0
CENPK	64105	broad.mit.edu	37	5	64814369	64814369	+	Missense_Mutation	SNP	C	C	A	rs147863579		TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:64814369C>A	ENST00000396679.1	-	11	957	c.743G>T	c.(742-744)cGt>cTt	p.R248L	CENPK_ENST00000510693.1_Missense_Mutation_p.R185L|CENPK_ENST00000508421.1_Missense_Mutation_p.R218L|CENPK_ENST00000242872.3_Missense_Mutation_p.R248L|CENPK_ENST00000514814.1_Missense_Mutation_p.R248L	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	248					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AATTCCATTACGCAGCAGCAG	0.353000													34	94					2.47316e-13	3.64444e-13	1	1	0
TSPAN5	10098	broad.mit.edu	37	4	99399959	99399959	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:99399959C>A	ENST00000305798.3	-	5	855	c.453G>T	c.(451-453)tgG>tgT	p.W151C	TSPAN5_ENST00000505184.1_Missense_Mutation_p.W80C|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	151						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		CACAGCACTGCCACTAGAGCA	0.488000													7	59					1.06961e-07	1.32846e-07	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103427796	103427796	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:103427796G>A	ENST00000358392.2	-	40	3403	c.3086C>T	c.(3085-3087)tCa>tTa	p.S1029L	COL11A1_ENST00000512756.1_Missense_Mutation_p.S901L|COL11A1_ENST00000370096.3_Missense_Mutation_p.S1017L|COL11A1_ENST00000353414.4_Missense_Mutation_p.S978L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1017	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)		ATCTTTCCCTGAGATACCTTG	0.383000													14	128					0	0	1	0	0
TMTC4	84899	broad.mit.edu	37	13	101287379	101287379	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr13:101287379C>T	ENST00000342624.5	-	11	1531	c.1273G>A	c.(1273-1275)Ggc>Agc	p.G425S	TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Missense_Mutation_p.G295S|TMTC4_ENST00000376234.3_Missense_Mutation_p.G406S	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	406						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACCACGAAGCCCACTCGGAAG	0.498000													13	31					0	0	1	0	0
MIR99AHG	388815	broad.mit.edu	37	21	17911465	17911465	+	RNA	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr21:17911465G>T	ENST00000458468.1	+	0	579				MIR99A_ENST00000384906.1_RNA	NR_027790.1																						GCACAAGCTCGCTTCTATGGG	0.423000													15	41					1.45105e-14	2.19625e-14	1	1	0
KIAA0556	23247	broad.mit.edu	37	16	27777732	27777732	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:27777732C>A	ENST00000261588.4	+	20	3931	c.3912C>A	c.(3910-3912)gcC>gcA	p.A1304A		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1304										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TGGACAGGGCCGAAAGCATCG	0.582000													16	88					1.15088e-07	1.41756e-07	1	1	0
LRRTM3	347731	broad.mit.edu	37	10	68687879	68687879	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:68687879C>A	ENST00000361320.4	+	2	1783	c.1205C>A	c.(1204-1206)aCa>aAa	p.T402K	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	402						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GTGGGAGCCACAGAGCCCGGC	0.612000													16	140					1.3612e-06	1.61428e-06	1	1	0
PRELP	5549	broad.mit.edu	37	1	203452843	203452843	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:203452843G>C	ENST00000343110.2	+	2	658	c.531G>C	c.(529-531)agG>agC	p.R177S		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	177					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			AGCAGCTGAGGCTGAGCCAGA	0.617000													42	151					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13922348	13922348	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:13922348G>A	ENST00000265104.4	-	5	632	c.528C>T	c.(526-528)ctC>ctT	p.L176L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	176	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGTGGCTCTGAGAGCAGGAA	0.552000									Kartagener syndrome				17	113					0	0	1	0	0
LSS	4047	broad.mit.edu	37	21	47647530	47647530	+	Silent	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr21:47647530C>T	ENST00000397728.3	-	3	333	c.255G>A	c.(253-255)gtG>gtA	p.V85V	LSS_ENST00000522411.1_Silent_p.V85V|LSS_ENST00000356396.4_Silent_p.V85V|LSS_ENST00000457828.2_Silent_p.V5V|LSS_ENST00000464357.1_5'UTR	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	85					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CCTGCAGCCCCACGTAAAATG	0.522000													23	93					0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17280684	17280684	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr22:17280684A>G	ENST00000331428.5	-	3	668	c.566T>C	c.(565-567)aTa>aCa	p.I189T		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	189						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCATTCTCGTATAGTGAGACT	0.358000													25	255					0	0	1	0	0
RBM4B	83759	broad.mit.edu	37	11	66444353	66444353	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:66444353G>A	ENST00000525754.1	-	1	866	c.198C>T	c.(196-198)aaC>aaT	p.N66N	RBM4B_ENST00000531036.2_Silent_p.N66N|RBM4B_ENST00000531969.1_Silent_p.N66N|RBM4B_ENST00000310046.4_Silent_p.N66N|RBM4B_ENST00000524637.1_Silent_p.N66N			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	66	RRM 1.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						TGGCTTCCACGTTGATGTTCA	0.478000													100	301					0	0	1	0	0
MOSPD1	56180	broad.mit.edu	37	X	134033565	134033565	+	Splice_Site	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:134033565C>A	ENST00000370783.3	-	2	86		c.e2-1		MOSPD1_ENST00000491609.1_Splice_Site|MOSPD1_ENST00000370779.4_Splice_Site	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1						negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					TTTTGGCAATCTAGAAATAGA	0.348000													8	43					5.18039e-06	5.96146e-06	1	1	0
EPG5	57724	broad.mit.edu	37	18	43462411	43462411	+	Silent	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr18:43462411C>G	ENST00000282041.5	-	31	5380	c.5346G>C	c.(5344-5346)ctG>ctC	p.L1782L	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1782					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TACGATCAGACAGAGGAGGTT	0.393000													27	106					0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38506050	38506050	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:38506050C>A	ENST00000263409.4	-	9	1410	c.1248G>T	c.(1246-1248)ctG>ctT	p.L416L	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.L416L	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	416	Fibronectin type-III 2.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GTGATCGACCCAGCGGATTGT	0.294000			T	PLAG1	salivary adenoma								11	240					1.5842e-08	2.00665e-08	1	1	0
IGKV1-16	28938	broad.mit.edu	37	2	89399440	89399440	+	RNA	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:89399440C>A	ENST00000479981.1	-	0	289																											TGTCCCAGATCCACTGCCGCT	0.483000													41	330					2.2871e-25	4.16811e-25	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77766753	77766753	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:77766753C>A	ENST00000521891.2	+	10	8044	c.7596C>A	c.(7594-7596)ccC>ccA	p.P2532P	ZFHX4_ENST00000518282.1_Silent_p.P2506P|ZFHX4_ENST00000050961.6_Silent_p.P2487P|ZFHX4_ENST00000455469.2_Silent_p.P2487P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2487						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGAAAGGCCCATGGACATGC	0.527000										HNSCC(33;0.089)			45	189					2.45108e-15	3.78687e-15	1	1	0
ANKRD12	23253	broad.mit.edu	37	18	9255948	9255948	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr18:9255948A>T	ENST00000383440.2	+	8	2871	c.2614A>T	c.(2614-2616)Aaa>Taa	p.K872*	ANKRD12_ENST00000400020.3_Nonsense_Mutation_p.K872*|ANKRD12_ENST00000262126.3_Nonsense_Mutation_p.K895*	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	895						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						TGCTGCTATTAAAAAAACTGA	0.343000													8	28					0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64873600	64873600	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:64873600C>A	ENST00000533854.1	+	2	387	c.150C>A	c.(148-150)atC>atA	p.I50I	CACNG5_ENST00000307139.3_Silent_p.I50I|CACNG5_ENST00000169565.3_Silent_p.I50I			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	50					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GCACCGAGATCAAGATGTCCC	0.627000													9	132					0.0477658	0.0485265	1	1	0
PLEKHG4B	153478	broad.mit.edu	37	5	163256	163256	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:163256G>T	ENST00000283426.6	+	11	2051	c.2001G>T	c.(1999-2001)ggG>ggT	p.G667G		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	667					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GACAGGACGGGGAGACCCTGC	0.692000													4	34					1	1	1	1	0
DYTN	391475	broad.mit.edu	37	2	207516636	207516636	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:207516636G>T	ENST00000452335.2	-	12	1759	c.1643C>A	c.(1642-1644)tCt>tAt	p.S548Y		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	548						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GTTTACTGAAGACTCCGGGCC	0.443000													7	77					0.00198382	0.00207199	1	1	0
KANK2	25959	broad.mit.edu	37	19	11283797	11283797	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:11283797C>A	ENST00000432929.2	-	10	2455	c.2095G>T	c.(2095-2097)Gtc>Ttc	p.V699F	KANK2_ENST00000589894.1_Missense_Mutation_p.V691F|KANK2_ENST00000586659.1_Missense_Mutation_p.V691F|KANK2_ENST00000355150.5_Missense_Mutation_p.V691F|KANK2_ENST00000589359.1_Missense_Mutation_p.V699F	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	691										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ACCTTGCAGACACCTAAGAGA	0.567000													31	54					3.1745e-13	4.66254e-13	1	1	0
GRIA1	2890	broad.mit.edu	37	5	153149976	153149976	+	Splice_Site	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:153149976G>T	ENST00000285900.5	+	13	2613		c.e13+1		GRIA1_ENST00000448073.4_Splice_Site|GRIA1_ENST00000518783.1_Splice_Site|GRIA1_ENST00000340592.5_Splice_Site|GRIA1_ENST00000518142.1_Splice_Site|GRIA1_ENST00000521843.2_Splice_Site	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1						synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTGCCCTGAGGTAAGTAGCCA	0.512000													14	67					7.93312e-07	9.5091e-07	1	1	0
FSCN3	29999	broad.mit.edu	37	7	127235705	127235705	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:127235705G>T	ENST00000265825.5	+	2	708	c.489G>T	c.(487-489)atG>atT	p.M163I	FSCN3_ENST00000420086.2_Missense_Mutation_p.M29I	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	163						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ACCCCACTATGGGCCGCATCT	0.612000													24	118					3.5997e-14	5.41167e-14	1	1	0
ITGAD	3681	broad.mit.edu	37	16	31425820	31425820	+	Missense_Mutation	SNP	G	G	T	rs141968317	byFrequency	TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:31425820G>T	ENST00000389202.2	+	17	2094	c.2045G>T	c.(2044-2046)cGt>cTt	p.R682L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	682					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GACCCAGGTCGTCTGACTTCT	0.483000													121	357					6.25824e-51	1.23916e-50	1	1	0
APOB	338	broad.mit.edu	37	2	21230826	21230826	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:21230826G>T	ENST00000233242.1	-	26	9041	c.8914C>A	c.(8914-8916)Caa>Aaa	p.Q2972K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2972					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACCAAGTTTTGGTTTACTCTT	0.403000													43	234					1.96642e-18	3.27614e-18	1	1	0
RIN2	54453	broad.mit.edu	37	20	19970732	19970732	+	Silent	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:19970732C>T	ENST00000255006.6	+	9	2141	c.1992C>T	c.(1990-1992)caC>caT	p.H664H	RIN2_ENST00000440354.2_Silent_p.H182H|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	615	VPS9.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						AGGACTTTCACATGGCCGATG	0.562000													4	27					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11346562	11346562	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:11346562C>A	ENST00000304623.8	-	9	1739	c.1550G>T	c.(1549-1551)aGc>aTc	p.S517I	CTNND2_ENST00000503622.1_Missense_Mutation_p.S180I|CTNND2_ENST00000359640.2_Missense_Mutation_p.S517I|CTNND2_ENST00000511377.1_Missense_Mutation_p.S426I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.S84I	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	517					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						GCCGGATTTGCTGTATGGAGA	0.572000													23	269					6.44725e-10	8.49173e-10	1	1	0
DUSP22	56940	broad.mit.edu	37	6	335151	335151	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:335151C>A	ENST00000419235.2	+	4	254	c.176C>A	c.(175-177)cCa>cAa	p.P59Q	DUSP22_ENST00000603290.1_3'UTR|DUSP22_ENST00000605863.1_Intron|DUSP22_ENST00000344450.5_Missense_Mutation_p.P59Q|DUSP22_ENST00000605035.1_Intron|DUSP22_ENST00000605315.1_Intron|DUSP22_ENST00000604971.1_Intron|DUSP22_ENST00000603453.1_5'UTR			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	59					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GCGGATTCACCATCTCAAAAC	0.323000													11	109					3.86212e-05	4.30571e-05	1	1	0
ASAP1	50807	broad.mit.edu	37	8	131414146	131414146	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:131414146T>C	ENST00000357668.1	-	1	71	c.44A>G	c.(43-45)gAt>gGt	p.D15G	ASAP1_ENST00000518721.1_Missense_Mutation_p.D15G|ASAP1_ENST00000520625.1_5'UTR			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	15					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CCATAGTGAATCTCTCGACGA	0.498000													15	150					0	0	1	0	0
SERHL	94009	broad.mit.edu	37	22	42905085	42905085	+	RNA	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr22:42905085A>T	ENST00000359906.2	+	0	666					NR_027786.1				serine hydrolase-like											endometrium(1)|large_intestine(1)	2						GCATTCCATCAGGAAGCTGCA	0.562000													23	68					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28419689	28419689	+	Silent	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:28419689C>T	ENST00000261609.7	-	65	10017	c.9909G>A	c.(9907-9909)gtG>gtA	p.V3303V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3303					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTAAGCCTTGCACGAGTGTGG	0.582000													6	99					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161127549	161127549	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:161127549G>T	ENST00000308192.9	+	2	223	c.160G>T	c.(160-162)Gag>Tag	p.E54*	PLG_ENST00000366924.2_Nonsense_Mutation_p.E54*|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	54	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGCAAAATGTGAGGAGGACGA	0.438000													33	187					8.11767e-34	1.55894e-33	1	1	0
NKD2	85409	broad.mit.edu	37	5	1036406	1036406	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:1036406C>A	ENST00000296849.5	+	9	923	c.694C>A	c.(694-696)Cgg>Agg	p.R232R	NKD2_ENST00000537972.1_Silent_p.R232R|NKD2_ENST00000274150.4_Silent_p.R232R	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	232					exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CTGCTCGGAGCGGGGGCCCTA	0.657000													13	31					7.03913e-09	9.00564e-09	1	1	0
CCDC88A	55704	broad.mit.edu	37	2	55523085	55523085	+	Splice_Site	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:55523085C>T	ENST00000413716.2	-	31	5392		c.e31+1		CCDC88A_ENST00000422883.2_Silent_p.R234R|CCDC88A_ENST00000263630.8_Silent_p.R1705R|CCDC88A_ENST00000336838.6_Silent_p.R1732R|CCDC88A_ENST00000436346.1_Silent_p.R1733R			Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A						activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CACTTACTGACCTGGCCAGAC	0.423000													35	90					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106959806	106959806	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:106959806G>A	ENST00000369701.3	+	15	2286	c.2059G>A	c.(2059-2061)Gac>Aac	p.D687N	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	687						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGTGAAAGTGGACTACAAATC	0.522000													28	126					0	0	1	0	0
C3orf35	339883	broad.mit.edu	37	3	37458917	37458917	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:37458917G>T	ENST00000328376.5	+	5	1139	c.160G>T	c.(160-162)Gag>Tag	p.E54*	C3orf35_ENST00000425932.1_Nonsense_Mutation_p.E54*|C3orf35_ENST00000425564.2_Nonsense_Mutation_p.E54*|C3orf35_ENST00000426078.1_Nonsense_Mutation_p.E54*|C3orf35_ENST00000452017.2_Nonsense_Mutation_p.E54*|C3orf35_ENST00000481400.1_Intron	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	54						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GGCTAATGCAGAGCAGATGGG	0.448000													53	86					1.32667e-27	2.44776e-27	1	1	0
JAKMIP1	152789	broad.mit.edu	37	4	6080691	6080691	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:6080691C>T	ENST00000409021.3	-	8	1726	c.1277G>A	c.(1276-1278)cGa>cAa	p.R426Q	JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R426Q|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.R261Q|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R426Q|JAKMIP1_ENST00000457227.2_5'UTR	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	426	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACTTTTCCCTCGATGCCTTTT	0.572000													8	84					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70635063	70635063	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:70635063T>C	ENST00000381269.2	-	2	830	c.77A>G	c.(76-78)aAt>aGt	p.N26S	SLC8A3_ENST00000356921.2_Missense_Mutation_p.N26S|SLC8A3_ENST00000534137.1_Missense_Mutation_p.N26S|SLC8A3_ENST00000528359.1_Missense_Mutation_p.N26S|SLC8A3_ENST00000357887.3_Missense_Mutation_p.N26S	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	26					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCGAAGACCATTCAGGAAGAG	0.557000													7	73					0	0	1	0	0
NMI	9111	broad.mit.edu	37	2	152132106	152132106	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:152132106T>A	ENST00000243346.5	-	6	996	c.526A>T	c.(526-528)Aaa>Taa	p.K176*		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	176					inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		AGCTCTAGTTTGTCTCTCATT	0.428000													45	157					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101603361	101603361	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:101603361G>T	ENST00000536262.2	-	1	824	c.266C>A	c.(265-267)gCc>gAc	p.A89D		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	89					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTAGGTGAAGGCAAAGATGCT	0.577000													20	40					1.56452e-12	2.24979e-12	1	1	0
DPYS	1807	broad.mit.edu	37	8	105441882	105441882	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:105441882C>A	ENST00000351513.2	-	5	973	c.841G>T	c.(841-843)Ggc>Tgc	p.G281C		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	281					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TAGTGAGTGCCATCTGTGCCA	0.473000													12	144					0.000978159	0.0010325	1	1	0
ESF1	51575	broad.mit.edu	37	20	13698081	13698081	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:13698081C>A	ENST00000202816.1	-	13	2303	c.2196G>T	c.(2194-2196)caG>caT	p.Q732H		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	732	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TGCTCAGATTCTGGTGCTCCA	0.398000													28	174					3.65163e-15	5.62225e-15	1	1	0
HS3ST4	9951	broad.mit.edu	37	16	26147415	26147415	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:26147415C>G	ENST00000331351.5	+	2	1609	c.1217C>G	c.(1216-1218)cCg>cGg	p.P406R	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	406					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		AGCAGTGCCCCGAGGTGCTTA	0.468000													17	56					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641705	99641705	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:99641705C>T	ENST00000345514.2	-	3	1521	c.1255G>A	c.(1255-1257)Gac>Aac	p.D419N	BCL11B_ENST00000357195.3_Missense_Mutation_p.D490N|BCL11B_ENST00000443726.2_Missense_Mutation_p.D296N	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	490						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GAGAGCCCGTCGTCGGAGCGG	0.726000			T	TLX3	T-ALL								3	16					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134497325	134497325	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr9:134497325T>C	ENST00000372195.1	-	11	2006	c.1763A>G	c.(1762-1764)cAg>cGg	p.Q588R	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.Q589R|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.Q571R			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	571					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)		CTGTGGCGTCTGGTAGAACAT	0.582000													4	41					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70917918	70917918	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:70917918C>A	ENST00000393567.2	-	59	10034	c.9884G>T	c.(9883-9885)tGt>tTt	p.C3295F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3295										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AAACTCCTCACACTTTCCCAT	0.552000													15	59					3.27435e-08	4.11251e-08	1	1	0
CES3	23491	broad.mit.edu	37	16	67006321	67006321	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:67006321A>T	ENST00000303334.4	+	11	1425	c.1354A>T	c.(1354-1356)Aaa>Taa	p.K452*	CES3_ENST00000394037.1_Nonsense_Mutation_p.K452*|CES3_ENST00000543856.1_Nonsense_Mutation_p.K91*	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	452						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TGCGAAGATCAAACCTGCCTG	0.537000													107	349					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47847867	47847867	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:47847867G>A	ENST00000289672.2	-	52	7855	c.7805C>T	c.(7804-7806)aCc>aTc	p.T2602I	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2602					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGCCATAAGGGTGAGGTCCAT	0.507000													8	94					0	0	1	0	0
ANXA4	307	broad.mit.edu	37	2	70047830	70047830	+	Splice_Site	SNP	G	G	T	rs4493288		TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:70047830G>T	ENST00000394295.4	+	12	1031		c.e12-1		ANXA4_ENST00000536030.1_Splice_Site|ANXA4_ENST00000409920.1_Splice_Site	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4						anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						TTCTTCCTTAGGGCTTGGGCA	0.423000													24	197					1.2476e-16	1.99303e-16	1	1	0
WASF3	10810	broad.mit.edu	37	13	27255276	27255276	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr13:27255276G>T	ENST00000361042.4	+	8	1018	c.793G>T	c.(793-795)Gca>Tca	p.A265S	WASF3_ENST00000335327.5_Missense_Mutation_p.A268S			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	268					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCCTTCCTATGCAGCTGGTGA	0.607000													13	186					1.49906e-05	1.69023e-05	1	1	0
GRIK2	2898	broad.mit.edu	37	6	102503424	102503424	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:102503424A>G	ENST00000369138.1	+	15	3021	c.2531A>G	c.(2530-2532)tAc>tGc	p.Y844C	GRIK2_ENST00000369134.4_Missense_Mutation_p.Y795C|GRIK2_ENST00000421544.1_Missense_Mutation_p.Y844C|GRIK2_ENST00000318991.6_Missense_Mutation_p.Y844C|GRIK2_ENST00000369137.3_Missense_Mutation_p.Y768C|GRIK2_ENST00000413795.1_Missense_Mutation_p.Y844C	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	844					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GAATTTTTATACAAATCCAAA	0.373000													27	171					0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126090979	126090979	+	Splice_Site	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:126090979C>T	ENST00000318410.7	-	6	1061		c.e6+1		KIAA0196_ENST00000517845.1_Splice_Site	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196						cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTAATTCCCACCTGGTTGTAA	0.383000													32	104					0	0	1	0	0
ADRA1D	146	broad.mit.edu	37	20	4228937	4228937	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:4228937A>G	ENST00000379453.4	-	1	784	c.668T>C	c.(667-669)gTa>gCa	p.V223A		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	223					cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	CACCAGGGCTACGACCCAGAG	0.682000													3	21					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20874769	20874769	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:20874769G>T	ENST00000381552.1	+	8	1175	c.807G>T	c.(805-807)caG>caT	p.Q269H	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.Q220H|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.Q269H|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.Q151H|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.Q269H			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	269					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					AAGATCCCCAGTGGGTAGGAG	0.403000													18	100					2.94398e-08	3.70801e-08	1	1	0
C6	729	broad.mit.edu	37	5	41199916	41199916	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:41199916G>A	ENST00000263413.3	-	4	663	c.399C>T	c.(397-399)tgC>tgT	p.C133C	C6_ENST00000337836.5_Silent_p.C133C	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	133	TSP type-1 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTTCAATTTTGCAGAGCTTAG	0.433000													32	228					0	0	1	0	0
HNRNPF	3185	broad.mit.edu	37	10	43882716	43882716	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:43882716C>G	ENST00000443950.2	-	3	1103	c.617G>C	c.(616-618)cGg>cCg	p.R206P	HNRNPF_ENST00000356053.3_Missense_Mutation_p.R206P|HNRNPF_ENST00000357065.4_Missense_Mutation_p.R206P|HNRNPF_ENST00000337970.3_Missense_Mutation_p.R206P|HNRNPF_ENST00000544000.1_Missense_Mutation_p.R206P	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	206					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.R206Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						GGGCCCTGGCCGCTGCACGGA	0.582000													27	151					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89181511	89181511	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:89181511C>A	ENST00000554922.1	-	9	1464	c.1216G>T	c.(1216-1218)Gat>Tat	p.D406Y	EML5_ENST00000380664.5_Missense_Mutation_p.D406Y|EML5_ENST00000352093.5_Missense_Mutation_p.D406Y	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	406						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCCTTCCTATCTTTAATATGT	0.358000													4	24					0.00024832	0.000266526	1	1	0
SV2A	9900	broad.mit.edu	37	1	149880793	149880793	+	Missense_Mutation	SNP	G	G	C	rs117711516	by1000genomes	TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:149880793G>C	ENST00000369146.3	-	8	1820	c.1330C>G	c.(1330-1332)Cgg>Ggg	p.R444G	SV2A_ENST00000369145.1_Missense_Mutation_p.R444G	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	444					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GTGATGCGCCGATATTCGGGA	0.512000													21	136					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55220916	55220916	+	RNA	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:55220916A>T	ENST00000413439.1	+	0	905																											GTGGGATTTCACAGGTTCATT	0.557000													7	33					0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247464565	247464565	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:247464565C>A	ENST00000294753.4	-	9	1484	c.1020G>T	c.(1018-1020)ccG>ccT	p.P340P	ZNF496_ENST00000366498.2_Silent_p.P376P|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	340					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CTAGAGATCGCGGGTTGCCGC	0.602000													16	129					3.45872e-05	3.87047e-05	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50149125	50149125	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:50149125G>T	ENST00000404971.1	-	24	5940	c.4601C>A	c.(4600-4602)tCc>tAc	p.S1534Y	NRXN1_ENST00000405472.3_Missense_Mutation_p.S1486Y|NRXN1_ENST00000342183.5_Missense_Mutation_p.S429Y|NRXN1_ENST00000402717.3_Missense_Mutation_p.S1486Y|NRXN1_ENST00000401669.2_Missense_Mutation_p.S1494Y|NRXN1_ENST00000401710.1_Missense_Mutation_p.S482Y|NRXN1_ENST00000406859.3_Missense_Mutation_p.S1464Y|NRXN1_ENST00000406316.2_Missense_Mutation_p.S1464Y	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1464					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.S1535Y(1)|p.S429Y(1)|p.S1464Y(1)|p.S1534Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATTTTTGTTGGAGCTTTTCGC	0.393000													16	122					1.52009e-12	2.19296e-12	1	1	0
SLC4A5	57835	broad.mit.edu	37	2	74475522	74475522	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:74475522C>A	ENST00000394019.2	-	18	2142	c.1745G>T	c.(1744-1746)gGg>gTg	p.G582V	SLC4A5_ENST00000377632.1_Missense_Mutation_p.G582V|SLC4A5_ENST00000377634.4_Missense_Mutation_p.G582V|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G518V|SLC4A5_ENST00000358683.4_Missense_Mutation_p.G518V|SLC4A5_ENST00000357822.5_Missense_Mutation_p.G582V|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G582V|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.G582V|SLC4A5_ENST00000483195.1_5'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	582						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAGGATGGGCCCCGTGCTGCT	0.597000													18	88					3.32936e-07	4.05057e-07	1	1	0
REG1P	5969	broad.mit.edu	37	2	79364024	79364024	+	RNA	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:79364024G>T	ENST00000444841.1	-	0	314																											CAGACACCAGGTTACCTGAAT	0.517000													33	94					2.75727e-19	4.68107e-19	1	1	0
INTS7	25896	broad.mit.edu	37	1	212148541	212148541	+	Silent	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:212148541T>C	ENST00000366994.3	-	13	1886	c.1782A>G	c.(1780-1782)ttA>ttG	p.L594L	INTS7_ENST00000366992.3_Silent_p.L594L|INTS7_ENST00000440600.2_Silent_p.L545L|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366993.3_Silent_p.L594L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	594					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GATAGAATTTTAAAGATTCAG	0.383000													17	124					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56357041	56357041	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:56357041C>T	ENST00000370754.5	-	85	20647	c.20648G>A	c.(20647-20649)aGg>aAg	p.R6883K	DST_ENST00000421834.2_Missense_Mutation_p.R4617K|DST_ENST00000446842.2_Missense_Mutation_p.R6379K|DST_ENST00000244364.6_Missense_Mutation_p.R4291K|DST_ENST00000370788.2_Missense_Mutation_p.R4508K|DST_ENST00000361203.3_Missense_Mutation_p.R6594K|DST_ENST00000370769.4_Missense_Mutation_p.R6705K|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6703					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)			GGCTCTCTTCCTTGCATCATC	0.363000													14	95					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159409908	159409908	+	Silent	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:159409908C>T	ENST00000423932.3	+	1	397	c.360C>T	c.(358-360)atC>atT	p.I120I	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	120					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CCTTTGGCATCACTAACTGCT	0.488000													36	145					0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52645218	52645218	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:52645218G>A	ENST00000395961.3	-	4	602	c.436C>T	c.(436-438)Ccg>Tcg	p.P146S	BCAS1_ENST00000371435.2_Missense_Mutation_p.P146S|BCAS1_ENST00000371440.3_Missense_Mutation_p.P146S|BCAS1_ENST00000411563.1_Missense_Mutation_p.P49S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	146						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TCCTGCCCCGGTCCAGCTGCC	0.592000													17	130					0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67813535	67813535	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:67813535C>A	ENST00000422365.2	+	13	1892	c.1721C>A	c.(1720-1722)aCa>aAa	p.T574K	MCMDC2_ENST00000313616.5_Missense_Mutation_p.T574K|MCMDC2_ENST00000541540.1_Missense_Mutation_p.T511K|MCMDC2_ENST00000396592.3_Missense_Mutation_p.T574K	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	574					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						AGAATCAGAACAGGCTCTGTA	0.353000													26	126					4.7796e-09	6.14127e-09	1	1	0
BTNL8	79908	broad.mit.edu	37	5	180377339	180377339	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:180377339C>A	ENST00000340184.4	+	8	1504	c.1298C>A	c.(1297-1299)aCa>aAa	p.T433K	BTNL8_ENST00000505126.1_Missense_Mutation_p.T226K|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000533815.2_Missense_Mutation_p.T249K|BTNL8_ENST00000511704.1_Missense_Mutation_p.T317K|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000400707.3_Missense_Mutation_p.T308K	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	433	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATACCCTGACATGTCGGTTT	0.468000													73	261					4.37588e-27	8.04045e-27	1	1	0
ALDH8A1	64577	broad.mit.edu	37	6	135239731	135239731	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:135239731C>A	ENST00000265605.2	-	7	1354	c.1286G>T	c.(1285-1287)gGg>gTg	p.G429V	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.G375V|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.G379V	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	429					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GTGGACGCGCCCCACATTGCT	0.567000													23	118					2.89027e-11	3.95254e-11	1	1	0
DCHS2	54798	broad.mit.edu	37	4	155226021	155226021	+	Missense_Mutation	SNP	C	C	T	rs28622098	byFrequency	TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:155226021C>T	ENST00000357232.3	-	17	4039	c.4040G>A	c.(4039-4041)cGa>cAa	p.R1347Q		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1347	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCCCCATCTCGTACTAGTAC	0.423000													10	42					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139160904	139160904	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:139160904T>A	ENST00000395297.1	-	14	3477	c.3307A>T	c.(3307-3309)Aaa>Taa	p.K1103*		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1103										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGTTCTTTTTTAAATTTTTCT	0.368000										HNSCC(54;0.14)			19	81					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104641824	104641824	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:104641824G>T	ENST00000315264.7	+	11	2660	c.2282G>T	c.(2281-2283)cGa>cTa	p.R761L	KIF26A_ENST00000423312.2_Missense_Mutation_p.R900L			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	900					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		AGCACCCCTCGAGGCAGTTCT	0.697000													7	17					0.00198382	0.00207199	1	1	0
PNPLA6	10908	broad.mit.edu	37	19	7620626	7620626	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:7620626C>T	ENST00000221249.6	+	27	3387	c.2956C>T	c.(2956-2958)Cag>Tag	p.Q986*	PNPLA6_ENST00000450331.3_Nonsense_Mutation_p.Q986*|PNPLA6_ENST00000600737.1_Nonsense_Mutation_p.Q1024*|PNPLA6_ENST00000545201.2_Nonsense_Mutation_p.Q959*|PNPLA6_ENST00000414982.3_Nonsense_Mutation_p.Q1034*	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1025	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CCGCACGAAGCAGCGGGCCCG	0.652000													5	45					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72992425	72992425	+	Silent	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:72992425G>C	ENST00000268489.5	-	2	2292	c.1620C>G	c.(1618-1620)ctC>ctG	p.L540L	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	540					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACAGGGTCTGGAGCACGTTAG	0.493000													37	138					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47894583	47894583	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:47894583G>T	ENST00000289672.2	-	30	4806	c.4756C>A	c.(4756-4758)Cat>Aat	p.H1586N		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1586					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTGAACTGATGGAGATTCACT	0.373000													49	160					9.58827e-17	1.53999e-16	1	1	0
KEAP1	9817	broad.mit.edu	37	19	10602328	10602328	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:10602328C>A	ENST00000171111.5	-	3	1797	c.1250G>T	c.(1249-1251)gGg>gTg	p.G417V	KEAP1_ENST00000393623.2_Missense_Mutation_p.G417V	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.G417E(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GACCCCCACCCCGATGCGGTT	0.667000													11	24					5.50884e-06	6.29078e-06	1	1	0
CDH10	1008	broad.mit.edu	37	5	24488009	24488009	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:24488009G>T	ENST00000264463.4	-	12	2637	c.2130C>A	c.(2128-2130)gtC>gtA	p.V710V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	710					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)		TGAAATCCCGGACGTCCGTGT	0.468000										HNSCC(23;0.051)			20	179					1.33834e-09	1.74472e-09	1	1	0
KIAA1109	84162	broad.mit.edu	37	4	123147883	123147883	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:123147883G>T	ENST00000264501.4	+	24	3188	c.2815G>T	c.(2815-2817)Gga>Tga	p.G939*	KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.G939*|KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.G939*|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	939					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTTGGAGTGGGGACAGACATT	0.408000													53	274					6.4685e-43	1.26675e-42	1	1	0
KIR3DL3	115653	broad.mit.edu	37	19	55239218	55239218	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:55239218G>A	ENST00000291860.1	+	4	515	c.497G>A	c.(496-498)cGc>cAc	p.R166H	KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	166	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		GACCCCTTGCGCCTCGTTGGA	0.562000													77	417					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104513213	104513213	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:104513213G>A	ENST00000406091.3	+	1	99	c.99G>A	c.(97-99)acG>acA	p.T33T	RP11-1C8.4_ENST00000523422.1_RNA	NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	33	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GCCACCTCACGGAGGAGGAGA	0.627000										HNSCC(12;0.0054)			12	69					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70451948	70451948	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:70451948G>T	ENST00000310961.5	+	11	1129	c.711G>T	c.(709-711)ttG>ttT	p.L237F	LRRC7_ENST00000035383.5_Missense_Mutation_p.L232F|LRRC7_ENST00000415775.2_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	232						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TAAAGATGTTGGTATACCTGG	0.373000													12	82					5.50884e-06	6.29078e-06	1	1	0
GABRA2	2555	broad.mit.edu	37	4	46314513	46314513	+	Splice_Site	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:46314513C>A	ENST00000510861.1	-	5	649	c.476_splice	c.e5+1	p.R159_splice	GABRA2_ENST00000515082.1_Splice_Site_p.R159_splice|GABRA2_ENST00000514090.1_Splice_Site_p.R159_splice|GABRA2_ENST00000540012.1_Splice_Site_p.R104_splice|GABRA2_ENST00000381620.4_Splice_Site_p.R159_splice|GABRA2_ENST00000356504.1_Splice_Site_p.R159_splice|GABRA2_ENST00000507069.1_Splice_Site_p.R159_splice			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	159					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAAAACATACCTCATGGTATA	0.338000													57	145					5.99346e-17	9.6784e-17	1	1	0
PDZK1P2	100034743	broad.mit.edu	37	1	145931852	145931852	+	RNA	SNP	A	A	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:145931852A>C	ENST00000401011.2	-	0	2545					NR_003377.2																						ACCAGTCTGTACATGTTGTCC	0.438000													6	96					0	0	1	0	0
TRIM39	56658	broad.mit.edu	37	6	30297376	30297376	+	Silent	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:30297376C>G	ENST00000376659.5	+	3	880	c.282C>G	c.(280-282)ctC>ctG	p.L94L	TRIM39-RPP21_ENST00000513556.1_Silent_p.L6L|TRIM39_ENST00000540416.1_Silent_p.L94L|TRIM39_ENST00000396548.1_Silent_p.L94L|TRIM39_ENST00000396551.3_Silent_p.L94L|TRIM39_ENST00000396547.1_Silent_p.L94L|TRIM39_ENST00000376656.4_Silent_p.L94L	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						CCAAGCAGCTCCAGGCCGTCA	0.562000													20	85					0	0	1	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148743625	148743625	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:148743625G>T	ENST00000514349.1	+	2	631	c.52G>T	c.(52-54)Ggc>Tgc	p.G18C	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.G108C			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	108					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGGTGGTGGGCAGGAGCGC	0.617000													27	116					2.36697e-06	2.75941e-06	1	1	0
NEK7	140609	broad.mit.edu	37	1	198225618	198225618	+	Nonstop_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:198225618A>T	ENST00000367383.1	+	4	543	c.359A>T	c.(358-360)tAa>tTa	p.*120L	NEK7_ENST00000538004.1_Intron|NEK7_ENST00000367385.4_Intron			Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	0	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						GCAAAAAAATAAGATGGTACC	0.353000													8	31					0	0	1	0	0
LRRC25	126364	broad.mit.edu	37	19	18507651	18507651	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:18507651C>A	ENST00000339007.3	-	1	776	c.123G>T	c.(121-123)acG>acT	p.T41T	LRRC25_ENST00000595840.1_Silent_p.T41T	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	41						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						AATTCAGGCACGTGGCACTGA	0.627000													21	50					7.45023e-12	1.03954e-11	1	1	0
KLHL36	79786	broad.mit.edu	37	16	84691317	84691317	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:84691317G>A	ENST00000564996.1	+	3	1045	c.904G>A	c.(904-906)Ggc>Agc	p.G302S	KLHL36_ENST00000258157.5_Missense_Mutation_p.G302S	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	302										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GTTTGTGGGCGGCGAGGTCTC	0.687000													4	50					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7706897	7706897	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:7706897G>A	ENST00000338316.4	+	8	1239	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	ADCY2_ENST00000537121.1_Missense_Mutation_p.V204M	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	384					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						CAACATGCGCGTGGGCGTGCA	0.468000													40	348					0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179226408	179226408	+	Splice_Site	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:179226408G>T	ENST00000190611.4	+	13	1529		c.e13-1		OSBPL6_ENST00000315022.2_Splice_Site|OSBPL6_ENST00000409631.1_Splice_Site|OSBPL6_ENST00000409045.3_Splice_Site|OSBPL6_ENST00000392505.2_Splice_Site|OSBPL6_ENST00000359685.3_Splice_Site|OSBPL6_ENST00000357080.4_Splice_Site	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6						lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TCCCCACCCAGTGCATTCTCT	0.398000													25	171					4.7796e-09	6.14127e-09	1	1	0
DYNC2LI1	51626	broad.mit.edu	37	2	44031829	44031829	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:44031829C>T	ENST00000260605.8	+	11	951	c.851C>T	c.(850-852)tCa>tTa	p.S284L	DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.S158L|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.S285L	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	284						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CATGCCCACTCACCTATGGAG	0.343000													20	152					0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94700023	94700023	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:94700023T>A	ENST00000304338.3	+	6	704	c.550T>A	c.(550-552)Tcc>Acc	p.S184T		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	184						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GGCACAACTTTCCCAAACAGT	0.328000													27	183					0	0	1	0	0
SLC35C2	51006	broad.mit.edu	37	20	44986386	44986386	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:44986386C>A	ENST00000372227.1	-	3	687	c.147G>T	c.(145-147)acG>acT	p.T49T	SLC35C2_ENST00000543605.1_Silent_p.T78T|SLC35C2_ENST00000317734.8_Silent_p.T49T|SLC35C2_ENST00000372229.1_Intron|SLC35C2_ENST00000372230.5_Silent_p.T49T|SLC35C2_ENST00000243896.2_Silent_p.T49T			Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	49					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				GGTGCAGCATCGTCATGAAGA	0.627000													13	92					4.36969e-10	5.77239e-10	1	1	0
AK9	221264	broad.mit.edu	37	6	109954241	109954241	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:109954241C>A	ENST00000424296.2	-	12	1215	c.1139G>T	c.(1138-1140)cGt>cTt	p.R380L	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Missense_Mutation_p.R380L|AK9_ENST00000285397.5_Missense_Mutation_p.R380L	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		CAGATAGGGACGTGGGTTCAA	0.363000													15	78					1.05317e-09	1.38103e-09	1	1	0
INTS12	57117	broad.mit.edu	37	4	106604219	106604219	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:106604219T>A	ENST00000451321.2	-	7	1539	c.1060A>T	c.(1060-1062)Act>Tct	p.T354S	INTS12_ENST00000394735.1_Missense_Mutation_p.T354S|INTS12_ENST00000340139.5_Missense_Mutation_p.T354S	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	354	Ser-rich.				snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		GTGGGCGTAGTGCTGTTATTG	0.463000													47	329					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33542985	33542985	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:33542985C>A	ENST00000265371.4	-	7	1477	c.952G>T	c.(952-954)Gga>Tga	p.G318*	NRP1_ENST00000395995.1_Nonsense_Mutation_p.G318*|NRP1_ENST00000374816.3_Nonsense_Mutation_p.G318*|NRP1_ENST00000374821.5_Nonsense_Mutation_p.G318*|NRP1_ENST00000374822.4_Nonsense_Mutation_p.G318*|NRP1_ENST00000374823.5_Nonsense_Mutation_p.G318*|NRP1_ENST00000374867.2_Nonsense_Mutation_p.G318*			O14786	NRP1_HUMAN	neuropilin 1	318	F5/8 type C 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GAATCCTCTCCGGGAGTCCAC	0.473000													27	132					1.88708e-17	3.08638e-17	1	1	0
HHATL	57467	broad.mit.edu	37	3	42738563	42738563	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:42738563C>T	ENST00000441594.1	-	8	1201	c.940G>A	c.(940-942)Gca>Aca	p.A314T	HHATL_ENST00000310417.5_Missense_Mutation_p.A314T	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	314					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TCGAGGCATGCCACAGTGTTG	0.612000													33	48					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20837502	20837502	+	Splice_Site	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:20837502C>A	ENST00000262715.5	-	53	7697		c.e53+1		TEP1_ENST00000556935.1_Splice_Site	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1						telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTCAAACTCACCTTTCTACGC	0.527000													10	108					1.58986e-06	1.87302e-06	1	1	0
DSP	1832	broad.mit.edu	37	6	7575675	7575675	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:7575675C>T	ENST00000379802.3	+	18	2925	c.2584C>T	c.(2584-2586)Cag>Tag	p.Q862*	DSP_ENST00000418664.2_Nonsense_Mutation_p.Q862*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	862	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAAGTCACACAGCTGACAGA	0.493000													20	161					0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38121474	38121474	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:38121474T>C	ENST00000395867.3	-	6	1359	c.809A>G	c.(808-810)tAt>tGt	p.Y270C	ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.Y270C	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						ACTGCATCCATACGGCTCCAT	0.373000													23	195					0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86824377	86824377	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:86824377C>A	ENST00000414194.2	+	18	3198	c.1406C>A	c.(1405-1407)tCa>tAa	p.S469*	DMTF1_ENST00000331242.7_Nonsense_Mutation_p.S735*|DMTF1_ENST00000432937.2_Nonsense_Mutation_p.S647*|DMTF1_ENST00000413276.2_Nonsense_Mutation_p.S665*|DMTF1_ENST00000394703.5_Nonsense_Mutation_p.S735*			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	735	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					CAGGAAGAATCAAATATCATT	0.328000													26	176					1.2476e-16	1.99303e-16	1	1	0
PTK2	5747	broad.mit.edu	37	8	141762406	141762406	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:141762406C>T	ENST00000522684.1	-	17	1571	c.1342G>A	c.(1342-1344)Gct>Act	p.A448T	PTK2_ENST00000535192.1_Missense_Mutation_p.A448T|PTK2_ENST00000519465.1_Missense_Mutation_p.A76T|PTK2_ENST00000519419.1_Missense_Mutation_p.A492T|PTK2_ENST00000340930.3_Missense_Mutation_p.A448T|PTK2_ENST00000520151.1_Missense_Mutation_p.A76T|PTK2_ENST00000395218.2_Missense_Mutation_p.A448T|PTK2_ENST00000521059.1_Missense_Mutation_p.A448T|PTK2_ENST00000517887.1_Missense_Mutation_p.A492T|PTK2_ENST00000538769.1_Missense_Mutation_p.A116T	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	448	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ACCGCCAAAGCTGGATTCTCC	0.368000													13	107					0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147636782	147636782	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:147636782G>C	ENST00000367481.3	+	15	1642	c.1534G>C	c.(1534-1536)Gaa>Caa	p.E512Q	STXBP5_ENST00000367480.3_Missense_Mutation_p.E512Q|STXBP5_ENST00000179882.6_Missense_Mutation_p.E183Q|STXBP5_ENST00000321680.6_Missense_Mutation_p.E512Q	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	512					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CTGGTGTCCAGAAAGTAGAAT	0.388000													17	152					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64167706	64167706	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:64167706A>G	ENST00000395391.1	+	4	2399	c.1024A>G	c.(1024-1026)Act>Gct	p.T342A	ZNF107_ENST00000344930.3_Missense_Mutation_p.T342A|ZNF107_ENST00000423627.1_Missense_Mutation_p.T342A			Q9UII5	ZN107_HUMAN	zinc finger protein 107	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CCAGTTCTCAACTCTTACTAG	0.333000													8	94					0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135251420	135251420	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr9:135251420T>C	ENST00000334270.2	-	11	2639	c.2600A>G	c.(2599-2601)tAt>tGt	p.Y867C	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	867					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GTCTTCATAATAAAAGATGTC	0.438000													22	64					0	0	1	0	0
PRNP	5621	broad.mit.edu	37	20	4680251	4680251	+	Missense_Mutation	SNP	A	A	G	rs1799990	byFrequency	TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:4680251A>G	ENST00000379440.4	+	2	672	c.385A>G	c.(385-387)Atg>Gtg	p.M129V	PRNP_ENST00000430350.2_Missense_Mutation_p.M129V	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	129	Interaction with GRB2, ERI3 and SYN1 (By similarity).		M -> V (polymorphism; determines the disease phenotype in patients who have a PrP mutation at position 178. Patients with M-129 develop FFI, those with V-129 develop CJD; dbSNP:rs1799990).		axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	p.M129V(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	TGGCGGCTACATGCTGGGAAG	0.547000													8	150					0	0	1	0	0
RAET1G	353091	broad.mit.edu	37	6	150240886	150240886	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:150240886G>A	ENST00000367360.2	-	2	219	c.152C>T	c.(151-153)gCg>gTg	p.A51V	RAET1G_ENST00000479265.1_Missense_Mutation_p.A51V	NM_001001788.2	NP_001001788.2	Q6H3X3	RET1G_HUMAN	retinoic acid early transcript 1G	51	MHC class I alpha-1 like.				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		GCCTTGAACCGCACACCACCG	0.532000													43	225					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157485661	157485661	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:157485661C>A	ENST00000361835.3	-	16	2972	c.2815G>T	c.(2815-2817)Gcc>Tcc	p.A939S	FCRL5_ENST00000356953.4_Missense_Mutation_p.A939S|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	939						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GGGTCAGAGGCCACTGTGGAA	0.637000													13	74					7.93312e-07	9.5091e-07	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50850589	50850589	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:50850589G>T	ENST00000404971.1	-	7	2435	c.1096C>A	c.(1096-1098)Ctt>Att	p.L366I	NRXN1_ENST00000405472.3_Missense_Mutation_p.L333I|NRXN1_ENST00000402717.3_Missense_Mutation_p.L333I|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.L333I|NRXN1_ENST00000406859.3_Missense_Mutation_p.L333I|NRXN1_ENST00000406316.2_Missense_Mutation_p.L333I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	333	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTCAGGGCAAGATTGACATAA	0.433000													29	227					1.08312e-15	1.68506e-15	1	1	0
MIA3	375056	broad.mit.edu	37	1	222802613	222802613	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:222802613A>G	ENST00000344922.5	+	4	2076	c.2051A>G	c.(2050-2052)gAg>gGg	p.E684G	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.E684G	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	684					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GAAGCCAAAGAGGACTCCTTG	0.493000													37	178					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149387	34149387	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:34149387G>C	ENST00000346193.3	-	1	1060	c.1009C>G	c.(1009-1011)Ctc>Gtc	p.L337V		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	337										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						TCTAGGCGGAGATGGGACTCT	0.652000													12	34					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57861953	57861953	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:57861953G>T	ENST00000228682.2	+	10	1345	c.1254G>T	c.(1252-1254)cgG>cgT	p.R418R	GLI1_ENST00000543426.1_Silent_p.R290R|GLI1_ENST00000546141.1_Silent_p.R377R	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	418					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGAGGGAGCGGGAAGGAGGTC	0.632000													32	40					4.74835e-14	7.10265e-14	1	1	0
MYOM1	8736	broad.mit.edu	37	18	3215154	3215154	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr18:3215154C>A	ENST00000400569.3	-	2	401	c.68G>T	c.(67-69)cGc>cTc	p.R23L	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Missense_Mutation_p.R23L|MYOM1_ENST00000356443.4_Missense_Mutation_p.R23L			P52179	MYOM1_HUMAN	myomesin 1	23						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACGGTGCTGCGCACGTCCTT	0.622000													8	36					1.06961e-07	1.32846e-07	1	1	0
MYH1	4619	broad.mit.edu	37	17	10398269	10398269	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:10398269C>A	ENST00000226207.5	-	37	5539	c.5445G>T	c.(5443-5445)caG>caT	p.Q1815H	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1815						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						GTTTCTGGATCTGCTTCTTCC	0.512000													75	181					1.38806e-43	2.72426e-43	1	1	0
FKBP8	23770	broad.mit.edu	37	19	18643596	18643596	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:18643596C>A	ENST00000597960.2	-	8	1153	c.1033G>T	c.(1033-1035)Gca>Tca	p.A345S	FKBP8_ENST00000453489.2_Missense_Mutation_p.A373S|FKBP8_ENST00000222308.3_Missense_Mutation_p.A345S|FKBP8_ENST00000596558.1_Missense_Mutation_p.A344S|FKBP8_ENST00000544835.2_Missense_Mutation_p.A185S			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	344					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GAGAGCTCTGCGTGGATCGTC	0.617000													13	61					5.50884e-06	6.29078e-06	1	1	0
APOF	319	broad.mit.edu	37	12	56755897	56755897	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:56755897C>A	ENST00000398189.3	-	2	170	c.93G>T	c.(91-93)ctG>ctT	p.L31L	APOF_ENST00000541105.1_Silent_p.L13L	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	31					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						CCACAGGGTGCAGCAGGAGGT	0.512000													49	118					4.01344e-20	6.87908e-20	1	1	0
COL5A1	1289	broad.mit.edu	37	9	137591910	137591910	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr9:137591910G>T	ENST00000371817.3	+	3	847	c.433G>T	c.(433-435)Ggg>Tgg	p.G145W	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	145	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGACCACACGGGGAAGCCTGG	0.627000													24	80					7.88262e-20	1.34592e-19	1	1	0
TMTC2	160335	broad.mit.edu	37	12	83526012	83526012	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:83526012G>T	ENST00000549919.1	+	13	4142	c.2337G>T	c.(2335-2337)ctG>ctT	p.L779L	TMTC2_ENST00000321196.3_Silent_p.L785L			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	785						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TGATGAACCTGGGAGCCATTC	0.498000													25	47					1.1804e-14	1.79573e-14	1	1	0
CEACAM20	125931	broad.mit.edu	37	19	45010246	45010246	+	RNA	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:45010246G>T	ENST00000454753.1	-	0	2017							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TGTAAGTGTTGGGCTCTGGAT	0.448000													5	58					0.184627	0.186296	1	1	0
CAMK2A	815	broad.mit.edu	37	5	149631614	149631614	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:149631614G>T	ENST00000348628.6	-	8	1194	c.529C>A	c.(529-531)Cct>Act	p.P177T	CAMK2A_ENST00000398376.3_Missense_Mutation_p.P177T	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	177	Protein kinase.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGATATCCAGGAGTCCCTGCA	0.567000													5	56					1.23904e-05	1.40059e-05	1	1	0
OR8D1	283159	broad.mit.edu	37	11	124180591	124180591	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:124180591C>A	ENST00000357821.2	-	1	142	c.72G>T	c.(70-72)caG>caT	p.Q24H		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AGAGGGGCAGCTGGAGCTCTG	0.468000													17	202					1.2644e-06	1.50749e-06	1	1	0
NPC1L1	29881	broad.mit.edu	37	7	44579865	44579865	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:44579865T>A	ENST00000289547.4	-	2	186	c.131A>T	c.(130-132)gAg>gTg	p.E44V	NPC1L1_ENST00000381160.3_Missense_Mutation_p.E44V|NPC1L1_ENST00000423141.1_Missense_Mutation_p.E44V|NPC1L1_ENST00000546276.1_Missense_Mutation_p.E44V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	44					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TCCAGACAGCTCTGGGTTCTT	0.557000													26	89					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767600	31767600	+	Silent	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:31767600G>C	ENST00000240587.4	-	2	3426	c.3099C>G	c.(3097-3099)ccC>ccG	p.P1033P		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1033					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGTCTTCCTCGGGGGAGGACG	0.493000													8	130					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48244883	48244883	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:48244883G>C	ENST00000394747.1	-	10	1933	c.1584C>G	c.(1582-1584)caC>caG	p.H528Q	ABCC11_ENST00000537808.1_Missense_Mutation_p.H528Q|ABCC11_ENST00000353782.5_Missense_Mutation_p.H528Q|ABCC11_ENST00000394748.1_Missense_Mutation_p.H528Q|ABCC11_ENST00000356608.2_Missense_Mutation_p.H528Q	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	528	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GGTTGATCTTGTGCAACTCTG	0.622000													30	85					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161523749	161523749	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:161523749G>T	ENST00000392142.4	+	19	3942	c.3794G>T	c.(3793-3795)gGa>gTa	p.G1265V	MAP3K4_ENST00000348824.7_Missense_Mutation_p.G1211V|MAP3K4_ENST00000366919.2_Missense_Mutation_p.G1215V|MAP3K4_ENST00000366920.2_Missense_Mutation_p.G1261V	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1265					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TATCCAAGAGGAGATTCAAGT	0.338000													12	34					6.42651e-13	9.36195e-13	1	1	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077437	32077437	+	RNA	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:32077437C>T	ENST00000354689.6	+	0	52				RP11-1166P10.6_ENST00000566806.1_RNA																							TGGGGGGTCCCTGAGACTCTC	0.582000													47	529					0	0	1	0	0
TNKS2	80351	broad.mit.edu	37	10	93608352	93608352	+	Silent	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:93608352A>T	ENST00000371627.4	+	19	2950	c.2571A>T	c.(2569-2571)tcA>tcT	p.S857S		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	857					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TAGTTAGTTCAAGTGGAACAG	0.438000													11	201					0	0	1	0	0
SLC23A2	9962	broad.mit.edu	37	20	4864311	4864311	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:4864311C>A	ENST00000379333.1	-	9	1193	c.801G>T	c.(799-801)ggG>ggT	p.G267G	SLC23A2_ENST00000424750.2_Intron|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Silent_p.G267G	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	267					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCCAGTGCTTCCCGGCTCTCT	0.567000													12	121					9.31168e-06	1.05928e-05	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169469108	169469108	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:169469108C>T	ENST00000256935.8	+	38	3928	c.3848C>T	c.(3847-3849)aCc>aTc	p.T1283I	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.T775I|DOCK2_ENST00000540750.1_Missense_Mutation_p.T344I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1283	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCTACGAGACCATCATAGGC	0.567000													17	28					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123637428	123637428	+	Missense_Mutation	SNP	T	T	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:123637428T>G	ENST00000422452.2	-	19	3490	c.3427A>C	c.(3427-3429)Att>Ctt	p.I1143L	TENM1_ENST00000371130.3_Missense_Mutation_p.I1143L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GGATTCAAAATGTGATGCTTA	0.353000													82	121					0	0	1	0	0
HLX	3142	broad.mit.edu	37	1	221055673	221055673	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:221055673G>T	ENST00000366903.6	+	3	2441	c.940G>T	c.(940-942)Ggc>Tgc	p.G314C	HLX_ENST00000549319.1_Missense_Mutation_p.G100C	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	314					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GGCGATGCTGGGCCTCACGGA	0.632000													5	45					0.00116845	0.00122611	1	1	0
CRB1	23418	broad.mit.edu	37	1	197390762	197390762	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:197390762G>C	ENST00000367400.3	+	6	1939	c.1804G>C	c.(1804-1806)Gat>Cat	p.D602H	CRB1_ENST00000538660.1_Missense_Mutation_p.D602H|CRB1_ENST00000535699.1_Missense_Mutation_p.D533H|CRB1_ENST00000367399.2_Missense_Mutation_p.D490H|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.D83H	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	602	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACTTGAAAGTGATCAATCAAT	0.433000													34	226					0	0	1	0	0
SLC4A9	83697	broad.mit.edu	37	5	139740341	139740341	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:139740341C>A	ENST00000230993.6	+	2	282	c.247C>A	c.(247-249)Ctc>Atc	p.L83I	SLC4A9_ENST00000506757.2_Intron|SLC4A9_ENST00000432095.2_Intron|SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000507527.1_Missense_Mutation_p.L83I	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	83						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCATCTCTGCTCCTGGACAT	0.582000													10	18					1.58986e-06	1.87302e-06	1	1	0
ADH7	131	broad.mit.edu	37	4	100340237	100340237	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:100340237G>T	ENST00000437033.2	-	7	1370	c.867C>A	c.(865-867)agC>agA	p.S289R	ADH7_ENST00000476959.1_Missense_Mutation_p.S309R|ADH7_ENST00000482593.1_Missense_Mutation_p.S232R|ADH7_ENST00000209665.4_Missense_Mutation_p.S301R			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	301					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CTACAACCACGCTGGTCCCAT	0.507000													20	62					1.56452e-12	2.24979e-12	1	1	0
TTLL8	164714	broad.mit.edu	37	22	50488604	50488604	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr22:50488604C>A	ENST00000266182.6	-	2	123	c.124G>T	c.(124-126)Gag>Tag	p.E42*	TTLL8_ENST00000477219.1_5'UTR|TTLL8_ENST00000440475.1_Nonsense_Mutation_p.E42*					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		AACTTCTTCTCTACCCAGCCC	0.527000													4	40					0.00909568	0.00939011	1	1	0
SI	6476	broad.mit.edu	37	3	164776812	164776812	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:164776812C>T	ENST00000264382.3	-	12	1399	c.1337G>A	c.(1336-1338)aGg>aAg	p.R446K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	446	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGTGTTTCCCCTCTCATAGGT	0.353000										HNSCC(35;0.089)			23	35					0	0	1	0	0
SCGB1A1	7356	broad.mit.edu	37	11	62189754	62189754	+	Silent	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:62189754C>T	ENST00000534397.1	+	3	203	c.12C>T	c.(10-12)ccC>ccT	p.P4P	SCGB1A1_ENST00000278282.2_Silent_p.P39P|CTD-2531D15.4_ENST00000528983.1_RNA			P11684	UTER_HUMAN	secretoglobin, family 1A, member 1 (uteroglobin)	39					embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity			lung(1)	1						TGGACACACCCTCCAGTTATG	0.567000													27	114					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323947	152323947	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:152323947G>A	ENST00000388718.5	-	3	6387	c.6315C>T	c.(6313-6315)caC>caT	p.H2105H	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2105							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)			TGGACTCACTGTGGCCAGATC	0.527000													163	987					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113169695	113169695	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr9:113169695G>T	ENST00000401783.2	-	38	8521	c.8185C>A	c.(8185-8187)Cgt>Agt	p.R2729S	SVEP1_ENST00000297826.5_Missense_Mutation_p.R655S|SVEP1_ENST00000374469.1_Missense_Mutation_p.R2706S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2729	Sushi 22.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.R2732C(1)		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						TCTGTAAAACGCAAAAAGCCA	0.448000													27	227					1.17739e-12	1.70407e-12	1	1	0
SLC4A10	57282	broad.mit.edu	37	2	162696308	162696308	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:162696308C>T	ENST00000375514.5	+	5	607	c.320C>T	c.(319-321)tCa>tTa	p.S107L	SLC4A10_ENST00000421911.1_Missense_Mutation_p.S96L|SLC4A10_ENST00000415876.2_Missense_Mutation_p.S96L|SLC4A10_ENST00000272716.5_Missense_Mutation_p.S96L|SLC4A10_ENST00000446997.1_Missense_Mutation_p.S96L|SLC4A10_ENST00000535165.1_Missense_Mutation_p.S96L|SLC4A10_ENST00000493021.1_3'UTR	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	96					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						GACACCCCATCACAGAGGGTA	0.453000													11	90					0	0	1	0	0
IYD	389434	broad.mit.edu	37	6	150710558	150710558	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:150710558G>T	ENST00000344419.3	+	2	389	c.249G>T	c.(247-249)gaG>gaT	p.E83D	IYD_ENST00000425615.3_Missense_Mutation_p.E28D|IYD_ENST00000229447.5_Missense_Mutation_p.E83D|IYD_ENST00000392255.3_Missense_Mutation_p.E83D|IYD_ENST00000392256.2_Missense_Mutation_p.E83D|IYD_ENST00000500320.3_Missense_Mutation_p.E83D	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	83					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		ACTATCCTGAGAAGGAAATGG	0.383000													23	125					1.50039e-11	2.06767e-11	1	1	0
ZIC3	7547	broad.mit.edu	37	X	136649433	136649433	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:136649433C>T	ENST00000287538.5	+	1	1133	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	ZIC3_ENST00000370606.3_Missense_Mutation_p.R195C	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	195					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GCTGTTCGGCCGTGCTGACCC	0.672000													15	42					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26310478	26310478	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:26310478G>T	ENST00000265944.5	+	8	798	c.632G>T	c.(631-633)tGt>tTt	p.C211F	MYO3A_ENST00000376302.1_Missense_Mutation_p.C211F|MYO3A_ENST00000543632.1_Missense_Mutation_p.C211F	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	211	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GACGCCAGATGTGACACTTGG	0.458000													21	232					2.21704e-12	3.1576e-12	1	1	0
OCA2	4948	broad.mit.edu	37	15	28211910	28211910	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:28211910A>T	ENST00000354638.3	-	15	1717	c.1562T>A	c.(1561-1563)cTg>cAg	p.L521Q	OCA2_ENST00000382996.2_Missense_Mutation_p.L521Q|OCA2_ENST00000353809.5_Missense_Mutation_p.L497Q	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	521					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AAAGCAGACCAGGAGAACAAG	0.478000									Oculocutaneous Albinism				7	66					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361013	105361013	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:105361013C>G	ENST00000297581.2	+	2	282	c.233C>G	c.(232-234)gCa>gGa	p.A78G	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.A78G|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	78					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TCCAAGCATGCACGATGTTTT	0.532000													21	164					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81592432	81592432	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:81592432C>G	ENST00000394660.2	+	14	3125	c.2765C>G	c.(2764-2766)tCc>tGc	p.S922C	IL16_ENST00000302987.4_Missense_Mutation_p.S922C|IL16_ENST00000394652.2_Missense_Mutation_p.S221C	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	922					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						GTGTCTGAGTCCCCTCCCCCA	0.657000													26	109					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065119	9065119	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:9065119G>T	ENST00000397910.4	-	3	22530	c.22327C>A	c.(22327-22329)Cct>Act	p.P7443T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7445	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						CTGGTTTCAGGTTCTGCACTT	0.478000													60	127					3.53049e-34	6.79467e-34	1	1	0
GRM7	2917	broad.mit.edu	37	3	7340370	7340370	+	Splice_Site	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:7340370G>T	ENST00000486284.1	+	3	1010		c.e3-1		GRM7_ENST00000403881.1_Splice_Site|GRM7_ENST00000357716.4_Splice_Site|GRM7_ENST00000389336.4_Splice_Site|GRM7_ENST00000402647.2_Splice_Site	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7						negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CTCTTAAACAGGTGGACTCTG	0.463000													16	90					9.16793e-09	1.1679e-08	1	1	0
NR5A1	2516	broad.mit.edu	37	9	127255309	127255309	+	Splice_Site	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr9:127255309C>A	ENST00000373588.4	-	5	1186	c.990_splice	c.e5+1	p.E330_splice		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	330	Important for dimerization.|Ligand-binding.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						GACTGGTCACCTCCTGCCCGG	0.701000													6	10					0.217242	0.218712	1	1	0
CCDC80	151887	broad.mit.edu	37	3	112324518	112324518	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:112324518G>T	ENST00000206423.3	-	8	3552	c.2599C>A	c.(2599-2601)Ctt>Att	p.L867I	CCDC80_ENST00000439685.2_Missense_Mutation_p.L867I	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	867										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CCGACTAGAAGCATGGAGAAG	0.448000													37	75					1.42033e-22	2.49676e-22	1	1	0
ERO1L	30001	broad.mit.edu	37	14	53150549	53150549	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:53150549C>A	ENST00000395686.3	-	2	414	c.191G>T	c.(190-192)aGa>aTa	p.R64I		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	64					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					TTTTTGTAGTCTTGGGAAAAG	0.264000													19	65					3.32936e-07	4.05057e-07	1	1	0
CCDC136	64753	broad.mit.edu	37	7	128454725	128454725	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:128454725C>A	ENST00000297788.4	+	15	3164	c.2797C>A	c.(2797-2799)Cag>Aag	p.Q933K	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000471729.1_3'UTR|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	933						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GCGGGAGCTGCAGCTGCAATA	0.597000													27	40					6.12954e-19	1.03277e-18	1	1	0
NPY1R	4886	broad.mit.edu	37	4	164247649	164247649	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:164247649C>A	ENST00000296533.2	-	2	589	c.58G>T	c.(58-60)Gag>Tag	p.E20*	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	20					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GCATTCTTCTCTGAGAAATTA	0.363000													29	94					3.73148e-12	5.26415e-12	1	1	0
GABRB2	2561	broad.mit.edu	37	5	160753416	160753416	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:160753416G>T	ENST00000274547.2	-	10	1367	c.1150C>A	c.(1150-1152)Cca>Aca	p.P384T	GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000520240.1_Intron|GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000353437.6_Intron|GABRB2_ENST00000393959.1_Missense_Mutation_p.P384T	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	384					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	cgtctagttggggagaggttt	0.373000													24	99					1.10923e-09	1.45241e-09	1	1	0
APC2	10297	broad.mit.edu	37	19	1467052	1467052	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:1467052G>A	ENST00000535453.1	+	14	5465	c.3752G>A	c.(3751-3753)cGg>cAg	p.R1251Q	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Missense_Mutation_p.R977Q|APC2_ENST00000233607.2_Missense_Mutation_p.R1251Q			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	1251	5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCGCTGCCGGCTGCCATCT	0.682000													10	17					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44974893	44974893	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:44974893G>T	ENST00000340446.4	-	1	1589	c.1298C>A	c.(1297-1299)cCt>cAt	p.P433H		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	433						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTCTTCTCTAGGAGCCTCTTC	0.517000													14	113					4.3838e-07	5.29734e-07	1	1	0
TJP1	7082	broad.mit.edu	37	15	30058563	30058563	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:30058563C>A	ENST00000346128.6	-	5	969	c.495G>T	c.(493-495)agG>agT	p.R165S	TJP1_ENST00000495972.2_Missense_Mutation_p.R165S|TJP1_ENST00000545208.2_Missense_Mutation_p.R165S|TJP1_ENST00000356107.6_Missense_Mutation_p.R165S|TJP1_ENST00000400011.2_Missense_Mutation_p.R169S	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	165					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGGACAAGCTCCTCTCTCTAC	0.502000													44	137					1.15183e-24	2.08216e-24	1	1	0
FMO4	2329	broad.mit.edu	37	1	171293330	171293330	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:171293330G>A	ENST00000367749.3	+	5	705	c.375G>A	c.(373-375)tgG>tgA	p.W125*	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	125					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTGGTCAGTGGGATGTTGTCA	0.463000													66	579					0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61413486	61413486	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:61413486C>A	ENST00000395348.3	-	5	1934	c.1298G>T	c.(1297-1299)gGg>gTg	p.G433V	SLC16A9_ENST00000395347.1_Missense_Mutation_p.G433V	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	433					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CATTAATATCCCATAGGCATG	0.398000													63	123					5.00936e-31	9.41759e-31	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181549788	181549788	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:181549788G>A	ENST00000526775.1	+	6	992	c.827G>A	c.(826-828)gGt>gAt	p.G276D	CACNA1E_ENST00000367573.2_Missense_Mutation_p.G276D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G276D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G227D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G276D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G227D|CACNA1E_ENST00000367567.4_5'UTR	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	276					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						TGCCCAGCTGGTTATGAATGC	0.498000													52	196					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110131599	110131599	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:110131599C>T	ENST00000518632.1	+	3	1463	c.1112C>T	c.(1111-1113)aCt>aTt	p.T371I	TRHR_ENST00000311762.2_Missense_Mutation_p.T371I			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	371						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GATGATATCACTGTCACTGAC	0.438000													115	236					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161163865	161163865	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:161163865G>A	ENST00000367996.4	-	5	1836	c.1408C>T	c.(1408-1410)Ctc>Ttc	p.L470F		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	470	Disintegrin.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GAGCACCAGAGGGCAGCACAG	0.662000													16	126					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978147	247978147	+	Silent	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:247978147C>T	ENST00000357627.1	-	1	884	c.885G>A	c.(883-885)aaG>aaA	p.K295K		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CCAGAGCCACCTTTATGGCCT	0.368000													10	73					0	0	1	0	0
DMRTA2	63950	broad.mit.edu	37	1	50885150	50885150	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:50885150G>T	ENST00000404795.3	-	3	1208	c.816C>A	c.(814-816)ggC>ggA	p.G272G	DMRTA2_ENST00000418121.1_Silent_p.G272G	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	272	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						CCTCCTCGCCGCCGCCGCCAG	0.701000													4	9					0.150653	0.152532	1	1	0
TBC1D32	221322	broad.mit.edu	37	6	121563371	121563371	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:121563371G>A	ENST00000275159.6	-	18	2132	c.2133C>T	c.(2131-2133)ttC>ttT	p.F711F	TBC1D32_ENST00000398212.2_Silent_p.F711F					TBC1 domain family, member 32																		CATATCGATTGAATATAAATG	0.328000													14	97					0	0	1	0	0
PSMD1	5707	broad.mit.edu	37	2	231941753	231941753	+	Silent	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:231941753A>T	ENST00000308696.6	+	9	1110	c.948A>T	c.(946-948)ccA>ccT	p.P316P	PSMD1_ENST00000409643.1_Silent_p.P316P|PSMD1_ENST00000373635.4_Silent_p.P316P	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	316					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GGCAGAGTCCAGAGCCTAAGG	0.318000													8	58					0	0	1	0	0
RBBP5	5929	broad.mit.edu	37	1	205065867	205065867	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:205065867G>A	ENST00000264515.6	-	12	1480	c.1339C>T	c.(1339-1341)Cca>Tca	p.P447S	RBBP5_ENST00000367164.1_Missense_Mutation_p.P447S	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	447					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTCTTAGGTGGCTGGGACCCA	0.507000													35	192					0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45658332	45658332	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:45658332C>T	ENST00000267430.5	+	20	5192	c.5107C>T	c.(5107-5109)Cat>Tat	p.H1703Y	FANCM_ENST00000542564.2_Missense_Mutation_p.H1677Y	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1703					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						ACAACAGGACCATTGTTTAAA	0.408000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				44	311					0	0	1	0	0
SLC30A3	7781	broad.mit.edu	37	2	27479666	27479666	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:27479666G>T	ENST00000233535.4	-	6	1225	c.873C>A	c.(871-873)atC>atA	p.I291I	SLC30A3_ENST00000447008.2_Silent_p.I286I	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	291					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCCATGAGGATTCGAAGAA	0.557000													11	72					2.27111e-07	2.78203e-07	1	1	0
TRIM32	22954	broad.mit.edu	37	9	119461127	119461127	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr9:119461127G>A	ENST00000450136.1	+	2	1267	c.1106G>A	c.(1105-1107)gGa>gAa	p.G369E	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000373996.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.G369E|ASTN2_ENST00000313400.4_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	369					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						AGCACTCCAGGAATGTTCAAT	0.527000													48	144					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9346158	9346158	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:9346158G>A	ENST00000378501.2	+	6	515	c.500G>A	c.(499-501)aGg>aAg	p.R167K	PLCB4_ENST00000378493.1_Missense_Mutation_p.R167K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.R167K|PLCB4_ENST00000334005.3_Missense_Mutation_p.R167K|PLCB4_ENST00000278655.4_Missense_Mutation_p.R167K|PLCB4_ENST00000414679.2_Missense_Mutation_p.R167K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	167					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATTCCAGTTAGGAGGTAAGTA	0.408000													6	94					0	0	1	0	0
VRK1	7443	broad.mit.edu	37	14	97321675	97321675	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:97321675G>A	ENST00000216639.3	+	8	840	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	231	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		CACGAGCATCGATGCACACAA	0.413000													46	145					0	0	1	0	0
ZNF468	90333	broad.mit.edu	37	19	53344258	53344258	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:53344258C>A	ENST00000595646.1	-	4	1409	c.1289G>T	c.(1288-1290)aGg>aTg	p.R430M	ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.R377M|ZNF468_ENST00000396409.4_Missense_Mutation_p.R377M			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		ATGAATCCTCCTGTGTCTTTC	0.418000													54	361					1.46156e-29	2.73621e-29	1	1	0
WT1	7490	broad.mit.edu	37	11	32450127	32450127	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:32450127C>A	ENST00000332351.3	-	2	969	c.685G>T	c.(685-687)Ggt>Tgt	p.G229C	WT1_ENST00000530998.1_Missense_Mutation_p.G17C|WT1_ENST00000448076.3_Missense_Mutation_p.G229C|WT1_ENST00000379079.2_Missense_Mutation_p.G17C	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	161					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.?(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GGCGTGTGACCGTAGCTGGGC	0.652000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				23	39					1.55795e-14	2.35405e-14	1	1	0
C10orf88	80007	broad.mit.edu	37	10	124691999	124691999	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:124691999C>T	ENST00000481909.1	-	6	1506	c.1282G>A	c.(1282-1284)Ggg>Agg	p.G428R	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	428										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		AGAGGTATCCCAGTGGGCGGG	0.383000													30	100					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657798	143657798	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:143657798C>A	ENST00000392899.1	+	1	772	c.735C>A	c.(733-735)ctC>ctA	p.L245L		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CCTCTCACCTCACAGTGGTTG	0.493000													13	154					1.61879e-10	2.17054e-10	1	1	0
KIF5A	3798	broad.mit.edu	37	12	57969018	57969018	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:57969018G>T	ENST00000455537.2	+	16	2142	c.1868G>T	c.(1867-1869)gGg>gTg	p.G623V	KIF5A_ENST00000286452.5_Missense_Mutation_p.G534V	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	623					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GAAGTGACCGGGCGGGAGCTC	0.532000													17	18					1.15088e-07	1.41756e-07	1	1	0
PCDHA3	56145	broad.mit.edu	37	5	140182333	140182333	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:140182333G>T	ENST00000522353.2	+	1	1551	c.1551G>T	c.(1549-1551)gtG>gtT	p.V517V	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.V517V|PCDHA2_ENST00000526136.1_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)			GCGGCAAGGTGTACGCGCTGC	0.692000													62	160					2.2129e-31	4.17784e-31	1	1	0
C9orf3	84909	broad.mit.edu	37	9	97535421	97535421	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr9:97535421A>G	ENST00000375315.2	+	2	935	c.935A>G	c.(934-936)aAt>aGt	p.N312S	C9orf3_ENST00000297979.5_Missense_Mutation_p.N312S|C9orf3_ENST00000277198.2_Missense_Mutation_p.N312S	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	312					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)		AGTGGGGAAAATTCTGCCAAA	0.463000													40	220					0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34971541	34971541	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr9:34971541C>A	ENST00000242315.3	+	2	328	c.246C>A	c.(244-246)ctC>ctA	p.L82L	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Silent_p.L82L	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	82							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GGGAGCGGCTCCGAGATGGGC	0.632000													101	150					2.34548e-53	4.65448e-53	1	1	0
POU2F1	5451	broad.mit.edu	37	1	167367324	167367324	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:167367324G>A	ENST00000367862.5	+	11	1425	c.1190G>A	c.(1189-1191)aGc>aAc	p.S397N	POU2F1_ENST00000420254.3_Missense_Mutation_p.S385N|POU2F1_ENST00000541643.3_Missense_Mutation_p.S385N|POU2F1_ENST00000429375.2_Missense_Mutation_p.S345N|POU2F1_ENST00000367866.2_Missense_Mutation_p.S408N|POU2F1_ENST00000367865.1_3'UTR	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	385					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						AAACGCACCAGCATAGAGACC	0.478000													15	101					0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362231	49362231	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:49362231G>A	ENST00000263265.6	-	8	1413	c.858C>T	c.(856-858)ccC>ccT	p.P286P	PLEKHA4_ENST00000355496.5_Silent_p.P286P|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	286	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TCTGGCGTTGGGGGCCCCAAT	0.697000													14	87					0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44169782	44169782	+	Splice_Site	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:44169782T>A	ENST00000372396.3	+	21	3187	c.3054_splice	c.e21+1	p.L1018_splice	KDM4A-AS1_ENST00000434346.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA|KDM4A-AS1_ENST00000453015.1_RNA|KDM4A-AS1_ENST00000439057.1_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	1018					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AAATCTAGACTGGTGAGTATT	0.483000													22	218					0	0	1	0	0
SCNN1D	6339	broad.mit.edu	37	1	1222225	1222225	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:1222225A>T	ENST00000338555.2	+	5	1641	c.497A>T	c.(496-498)aAc>aTc	p.N166I	SCNN1D_ENST00000400928.3_Missense_Mutation_p.N166I|SCNN1D_ENST00000325425.8_Missense_Mutation_p.N232I|SCNN1D_ENST00000379116.5_Missense_Mutation_p.N330I					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		TACAACGTCAACCTCAGCAAA	0.662000													15	98					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125805632	125805632	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:125805632C>A	ENST00000346248.5	-	2	739	c.97G>T	c.(97-99)Gcg>Tcg	p.A33S	CHST15_ENST00000435907.1_Missense_Mutation_p.A33S|CHST15_ENST00000462406.1_5'UTR|CHST15_ENST00000421115.1_Missense_Mutation_p.A33S	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	33					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GTGGGGCACGCCTGGTGACCG	0.532000													38	98					8.73648e-17	1.40571e-16	1	1	0
ENPP2	5168	broad.mit.edu	37	8	120613653	120613653	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:120613653G>T	ENST00000427067.2	-	10	1051	c.871C>A	c.(871-873)Ctg>Atg	p.L291M	ENPP2_ENST00000075322.6_Missense_Mutation_p.L295M|ENPP2_ENST00000259486.6_Missense_Mutation_p.L295M|ENPP2_ENST00000522826.1_Missense_Mutation_p.L295M			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	295				Q -> R (in Ref. 1; AAA64785 and 5; ABW38316).	cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGATCTGGCAGGGTGAGCCAC	0.403000													24	146					4.26978e-12	5.97635e-12	1	1	0
EPAS1	2034	broad.mit.edu	37	2	46611728	46611728	+	Missense_Mutation	SNP	G	G	C	rs141498636		TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:46611728G>C	ENST00000263734.3	+	16	3052	c.2542G>C	c.(2542-2544)Gtg>Ctg	p.V848L		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	848	CTAD.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TGAGGTGAACGTGCCCGTGCT	0.622000													18	119					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702272	179702272	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:179702272G>C	ENST00000420890.2	-	23	3791	c.3674C>G	c.(3673-3675)tCc>tGc	p.S1225C	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.S650C	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	650							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGCAAGAGGGGACTCAGGGCT	0.577000													35	100					0	0	1	0	0
FHL1	2273	broad.mit.edu	37	X	135288701	135288701	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:135288701C>T	ENST00000543669.1	+	2	821	c.110C>T	c.(109-111)gCc>gTc	p.A37V	FHL1_ENST00000370683.1_Missense_Mutation_p.A53V|FHL1_ENST00000539015.1_Missense_Mutation_p.A66V|FHL1_ENST00000394153.2_Missense_Mutation_p.A37V|FHL1_ENST00000370676.3_Missense_Mutation_p.A53V|FHL1_ENST00000394155.2_Missense_Mutation_p.A37V|FHL1_ENST00000345434.3_Missense_Mutation_p.A37V|FHL1_ENST00000370690.3_Missense_Mutation_p.A37V|FHL1_ENST00000477080.1_3'UTR|FHL1_ENST00000535737.1_Missense_Mutation_p.A37V	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	37					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					AAGTTCTGTGCCAACACCTGT	0.542000													68	156					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216297	20216297	+	Silent	SNP	C	C	A	rs142804362		TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:20216297C>A	ENST00000331723.1	+	1	711	c.711C>A	c.(709-711)gtC>gtA	p.V237V		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	237					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)		AGAACAAGGTCTTCTCTACCT	0.483000													14	299					9.05144e-12	1.25902e-11	1	1	0
FSIP2	401024	broad.mit.edu	37	2	186673721	186673721	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:186673721G>T	ENST00000343098.5	+	17	19955	c.19955G>T	c.(19954-19956)gGa>gTa	p.G6652V	FSIP2_ENST00000424728.1_Missense_Mutation_p.G6563V	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						AAAAGAACTGGACATAGCATA	0.353000													15	129					2.48551e-13	3.6566e-13	1	1	0
MKS1	54903	broad.mit.edu	37	17	56292129	56292129	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:56292129C>A	ENST00000393119.2	-	5	562	c.488G>T	c.(487-489)aGg>aTg	p.R163M	MKS1_ENST00000337050.7_Missense_Mutation_p.R163M|MKS1_ENST00000546108.1_Intron|MKS1_ENST00000313863.6_Missense_Mutation_p.R163M|MKS1_ENST00000537529.2_Missense_Mutation_p.R153M	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	163					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCGGCGACGCCTGACATTTGC	0.527000													6	47					5.18039e-06	5.96146e-06	1	1	0
SLC8A1	6546	broad.mit.edu	37	2	40656181	40656181	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:40656181C>A	ENST00000406785.1	-	2	1429	c.1240G>T	c.(1240-1242)Ggg>Tgg	p.G414W	SLC8A1_ENST00000332839.4_Missense_Mutation_p.G414W|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G414W|SLC8A1_ENST00000542756.1_Missense_Mutation_p.G414W|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G414W|SLC8A1_ENST00000403092.1_Missense_Mutation_p.G414W|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G414W|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G414W|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G414W|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G414W			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	414	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.G414W(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGATATGTCCCTTGTTCAAAG	0.468000													34	159					2.08457e-15	3.2262e-15	1	1	0
SLC45A2	51151	broad.mit.edu	37	5	33944855	33944855	+	Silent	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:33944855C>T	ENST00000296589.4	-	7	1637	c.1491G>A	c.(1489-1491)ctG>ctA	p.L497L	SLC45A2_ENST00000342059.3_Silent_p.L438L	NM_016180.3	NP_057264.3	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	497					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CTGTGTTGACCAGAAAGCCCA	0.577000													8	72					0	0	1	0	0
ARL6IP6	151188	broad.mit.edu	37	2	153591531	153591531	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:153591531T>A	ENST00000326446.5	+	3	1189	c.478T>A	c.(478-480)Tcc>Acc	p.S160T	ARL6IP6_ENST00000463690.1_3'UTR	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting protein 6	160						integral to membrane				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						ACTTATAATATCCCTAACTGC	0.378000													11	252					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31599554	31599554	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr18:31599554C>A	ENST00000261592.5	-	6	1081	c.784G>T	c.(784-786)Gca>Tca	p.A262S	NOL4_ENST00000535384.1_5'UTR|NOL4_ENST00000535475.1_Missense_Mutation_p.A107S|NOL4_ENST00000269185.4_Missense_Mutation_p.A148S|NOL4_ENST00000589544.1_Missense_Mutation_p.A262S|NOL4_ENST00000538587.1_Missense_Mutation_p.A188S	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	262						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AAGCTCTCTGCAGCAGAATCA	0.403000													24	113					1.55469e-16	2.47918e-16	1	1	0
FAM161B	145483	broad.mit.edu	37	14	74401001	74401001	+	Silent	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:74401001C>T	ENST00000286544.3	-	9	2289	c.2091G>A	c.(2089-2091)gaG>gaA	p.E697E	FAM161B_ENST00000534936.1_Silent_p.E634E|RP5-1021I20.5_ENST00000555916.1_RNA	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GATGAGACAGCTCCTCCAGTA	0.423000													13	198					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40419924	40419924	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:40419924T>A	ENST00000221347.6	-	6	3077	c.3070A>T	c.(3070-3072)Aat>Tat	p.N1024Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1024	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCAGTGCATTGGCAGCTTGA	0.632000													11	101					0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100185661	100185661	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:100185661C>A	ENST00000325103.6	-	12	1302	c.1069G>T	c.(1069-1071)Gtg>Ttg	p.V357L	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.V357L	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	357					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CTTTCCTTCACGTTGGCATCC	0.597000									Hermansky-Pudlak syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	93					9.52127e-25	1.72815e-24	1	1	0
LILRA3	11026	broad.mit.edu	37	19	54801943	54801943	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:54801943C>A	ENST00000391745.1	-	10	1612	c.1296G>T	c.(1294-1296)ctG>ctT	p.L432L	LILRA3_ENST00000251390.3_Silent_p.L415L|LILRA3_ENST00000391744.3_Silent_p.L351L					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCACGAGCTCCAGGGGGTCAC	0.627000													69	202					1.26778e-28	2.3586e-28	1	1	0
OR8I2	120586	broad.mit.edu	37	11	55861154	55861154	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:55861154T>A	ENST00000302124.2	+	1	402	c.371T>A	c.(370-372)aTa>aAa	p.I124K	OR8I2_ENST00000560768.1_Missense_Mutation_p.I124K			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	124			I -> V (in dbSNP:rs17603011).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					AATCGCTACATAGCAATCTGC	0.438000													106	206					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33291320	33291320	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:33291320G>C	ENST00000280979.4	+	13	4471	c.4301G>C	c.(4300-4302)gGt>gCt	p.G1434A	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1434					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCACCAGTGGGTTGTGTAAAT	0.378000													30	93					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900559	123900559	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:123900559C>A	ENST00000431524.1	+	1	263	c.230C>A	c.(229-231)cCc>cAc	p.P77H		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GTCACGGTGCCCAAATTGCTG	0.527000													28	230					1.42536e-11	1.9734e-11	1	1	0
ALB	213	broad.mit.edu	37	4	74277725	74277725	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:74277725C>A	ENST00000295897.4	+	7	815	c.726C>A	c.(724-726)cgC>cgA	p.R242R	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Silent_p.R92R|ALB_ENST00000415165.2_Silent_p.R50R|ALB_ENST00000401494.3_Silent_p.R127R|ALB_ENST00000509063.1_Silent_p.R242R	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	242	Albumin 2.		R -> H (in FDH).|R -> P (in FDH).		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CAGTAGCTCGCCTGAGCCAGA	0.393000													22	127					2.21704e-12	3.1576e-12	1	1	0
TSHZ3	57616	broad.mit.edu	37	19	31768074	31768074	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:31768074G>T	ENST00000240587.4	-	2	2952	c.2625C>A	c.(2623-2625)gaC>gaA	p.D875E		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	875					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GAGTGGCCCCGTCAATGTCAG	0.572000													29	159					1.75199e-13	2.58599e-13	1	1	0
CAPN3	825	broad.mit.edu	37	15	42682218	42682218	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:42682218T>A	ENST00000397163.3	+	6	1088	c.869T>A	c.(868-870)aTg>aAg	p.M290K	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.M203K|CAPN3_ENST00000357568.3_Missense_Mutation_p.M290K|CAPN3_ENST00000349748.3_Intron|CAPN3_ENST00000318023.7_Missense_Mutation_p.M290K	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	290	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ATTGCACGGATGGTAAGGAAT	0.527000													9	126					0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111296407	111296407	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:111296407T>A	ENST00000308208.5	+	4	439	c.197T>A	c.(196-198)cTg>cAg	p.L66Q	CCDC63_ENST00000552694.1_5'UTR|CCDC63_ENST00000545036.1_Missense_Mutation_p.L26Q|CCDC63_ENST00000550317.1_3'UTR	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	66										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						ATCAAGACCCTGAAGACAGAG	0.502000													8	101					0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85447080	85447080	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:85447080G>C	ENST00000369663.5	-	8	1484	c.1147C>G	c.(1147-1149)Cct>Gct	p.P383A	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	383					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TGAGTGGCAGGAACGCCATTC	0.527000													12	95					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596601	11596601	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:11596601C>A	ENST00000294484.6	+	21	4175	c.4037C>A	c.(4036-4038)cCc>cAc	p.P1346H	PTCHD2_ENST00000389575.3_Missense_Mutation_p.P1346H|PTCHD2_ENST00000304391.6_Silent_p.A232A	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1346					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ATCATGGCGCCCAGCTCTTTC	0.657000													7	78					8.12818e-05	8.95002e-05	1	1	0
SLC8A3	6547	broad.mit.edu	37	14	70633727	70633727	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:70633727G>A	ENST00000381269.2	-	2	2166	c.1413C>T	c.(1411-1413)gaC>gaT	p.D471D	SLC8A3_ENST00000356921.2_Silent_p.D471D|SLC8A3_ENST00000534137.1_Silent_p.D471D|SLC8A3_ENST00000528359.1_Silent_p.D471D|SLC8A3_ENST00000357887.3_Silent_p.D471D	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	471	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.D471D(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CAAAAATGTCGTCATCAATTA	0.512000													58	378					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42360586	42360586	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:42360586C>T	ENST00000298119.4	+	4	2708	c.1519C>T	c.(1519-1521)Cag>Tag	p.Q507*	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	507						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GGGTTGCATCCAGTTTACTAC	0.438000										HNSCC(30;0.082)			48	399					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96807962	96807962	+	Nonsense_Mutation	SNP	A	A	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:96807962A>C	ENST00000359933.4	-	6	1714	c.821T>G	c.(820-822)tTa>tGa	p.L274*		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	274										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TATCTCTGGTAAATTTCTAGT	0.428000													49	153					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53319565	53319565	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:53319565G>C	ENST00000566029.1	+	25	5234	c.5025G>C	c.(5023-5025)tgG>tgC	p.W1675C	CHD9_ENST00000398510.3_Missense_Mutation_p.W1675C|CHD9_ENST00000447540.1_Missense_Mutation_p.W1675C|CHD9_ENST00000564845.1_Missense_Mutation_p.W1675C			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1675					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CTGAGTGGTGGGATTTTGATG	0.363000													14	65					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572281	140572281	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:140572281G>T	ENST00000239446.4	+	1	340	c.156G>T	c.(154-156)ctG>ctT	p.L52L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		52	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAAGGATCTGGGACTAGCAG	0.502000													32	104					6.84511e-11	9.26164e-11	1	1	0
C9	735	broad.mit.edu	37	5	39341787	39341787	+	Missense_Mutation	SNP	T	T	C	rs138509694		TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:39341787T>C	ENST00000263408.4	-	3	294	c.199A>G	c.(199-201)Att>Gtt	p.I67V	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	67	TSP type-1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AAGACCTCAATGCTTCTTGAA	0.443000													15	92					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48054465	48054465	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:48054465G>A	ENST00000316364.5	+	8	1046	c.607G>A	c.(607-609)Ggt>Agt	p.G203S	SEMA6D_ENST00000355997.3_Missense_Mutation_p.G203S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.G203S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.G203S|SEMA6D_ENST00000558816.1_Missense_Mutation_p.G203S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.G203S|SEMA6D_ENST00000389425.3_Missense_Mutation_p.G203S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.G203S|SEMA6D_ENST00000536845.2_Missense_Mutation_p.G203S|SEMA6D_ENST00000354744.4_Missense_Mutation_p.G203S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.G203S|SEMA6D_ENST00000389428.3_Missense_Mutation_p.G203S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	203	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCGAAGCATGGGTGATGGATC	0.453000													16	126					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7548916	7548916	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:7548916C>G	ENST00000313599.3	-	8	1882	c.1825G>C	c.(1825-1827)Gat>Cat	p.D609H	CD163L1_ENST00000416109.2_Missense_Mutation_p.D619H|CD163L1_ENST00000396630.1_Missense_Mutation_p.D609H			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	609	SRCR 6.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGCCGTCATCACACACTGTG	0.572000													34	50					0	0	1	0	0
AKAP17A	8227	broad.mit.edu	37	X	1718147	1718147	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:1718147G>T	ENST00000313871.3	+	4	1170	c.974G>T	c.(973-975)aGg>aTg	p.R325M	AKAP17A_ENST00000381261.3_Missense_Mutation_p.R325M	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	325					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CTTCGCAAGAGGGAGCAGAAG	0.577000													9	41					2.74318e-10	3.63991e-10	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140868935	140868935	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:140868935C>A	ENST00000252087.1	+	1	128	c.128C>A	c.(127-129)aCg>aAg	p.T43K	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		43	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCGGGGACGCTGGTGGGG	0.572000													14	78					4.3838e-07	5.29734e-07	1	1	0
TXNIP	10628	broad.mit.edu	37	1	145440401	145440401	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:145440401C>T	ENST00000369317.4	+	5	1041	c.707C>T	c.(706-708)tCa>tTa	p.S236L	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	236					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGTTGTCATCAGTCAGAGGC	0.522000													69	182					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072309	17072309	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr22:17072309T>A	ENST00000359963.3	-	1	1391	c.1132A>T	c.(1132-1134)Agg>Tgg	p.R378W		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	378					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTGGCTCCCCTGAGAACCACA	0.567000													24	194					0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	40012807	40012807	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:40012807G>T	ENST00000308666.3	-	1	746	c.611C>A	c.(610-612)gCa>gAa	p.A204E		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	204	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GTCAGGGTTTGCCAGCCTCCC	0.413000													102	134					1.77486e-58	3.53784e-58	1	1	0
RYR3	6263	broad.mit.edu	37	15	33936518	33936518	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:33936518T>C	ENST00000389232.4	+	28	3633	c.3563T>C	c.(3562-3564)gTg>gCg	p.V1188A	RYR3_ENST00000415757.3_Missense_Mutation_p.V1188A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1188	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCAGGCTTCGTGCCCATCTGC	0.532000													6	21					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158639315	158639315	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:158639315G>A	ENST00000368148.3	-	14	1896	c.1716C>T	c.(1714-1716)gcC>gcT	p.A572A	SPTA1_ENST00000368147.3_Silent_p.A572A	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	572					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TACGTCTAGTGGCAGCCTTTT	0.453000													62	307					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129802491	129802491	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:129802491G>A	ENST00000421865.2	+	55	7705	c.7656G>A	c.(7654-7656)ctG>ctA	p.L2552L	RP1-69D17.3_ENST00000442449.1_RNA	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2552	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAATCAACCTGTCATTCAGCA	0.473000													33	175					0	0	1	0	0
KRTAP21-1	337977	broad.mit.edu	37	21	32127505	32127505	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr21:32127505G>T	ENST00000335093.3	-	1	241	c.192C>A	c.(190-192)taC>taA	p.Y64*		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	64						intermediate filament				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						GGTAGCCACAGTAGCCAGAGC	0.483000													36	220					6.53348e-20	1.1177e-19	1	1	0
DCAF8L2	347442	broad.mit.edu	37	X	27766501	27766501	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:27766501T>A	ENST00000451261.2	+	5	1888	c.1489T>A	c.(1489-1491)Tgg>Agg	p.W497R		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CATCTTCTTCTGGGAGAAATC	0.468000													8	26					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55955877	55955877	+	Silent	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:55955877C>G	ENST00000263923.4	-	24	3580	c.3285G>C	c.(3283-3285)ctG>ctC	p.L1095L	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1095	Protein kinase.				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)	ATATTTCCCACAGCAAAACAC	0.433000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			42	192					0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5338648	5338648	+	Silent	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:5338648C>T	ENST00000396872.2	+	8	1073	c.912C>T	c.(910-912)aaC>aaT	p.N304N	SLC29A4_ENST00000406453.3_Silent_p.N290N|SLC29A4_ENST00000297195.4_Silent_p.N304N	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	304					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		TGGCCCCCAACGAGTCCCCAA	0.692000													8	47					0	0	1	0	0
TSSC1	7260	broad.mit.edu	37	2	3197938	3197938	+	Splice_Site	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:3197938C>A	ENST00000398659.4	-	8	875		c.e8-1		TSSC1_ENST00000382125.4_Splice_Site|TSSC1_ENST00000478754.1_Splice_Site			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1								protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GTAGATCTGGCTGAGGGAGAA	0.517000													19	136					2.35188e-11	3.22121e-11	1	1	0
DHX36	170506	broad.mit.edu	37	3	154042080	154042080	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:154042080G>A	ENST00000496811.1	-	1	206	c.126C>T	c.(124-126)ggC>ggT	p.G42G	DHX36_ENST00000329463.5_Silent_p.G42G|DHX36_ENST00000544526.1_Silent_p.G42G|DHX36_ENST00000308361.6_Silent_p.G42G	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	42	Gly-rich.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CACCCCCTCCGCCGCCGCCGC	0.706000													23	118					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465545	10465545	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:10465545G>T	ENST00000382483.3	-	4	6286	c.6063C>A	c.(6061-6063)gaC>gaA	p.D2021E		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2021					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTCTACACCGTCTGACTCTG	0.607000													45	489					1.41504e-22	2.49676e-22	1	1	0
STIM1	6786	broad.mit.edu	37	11	4076784	4076784	+	Silent	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:4076784A>T	ENST00000300737.4	+	4	983	c.414A>T	c.(412-414)gtA>gtT	p.V138V	STIM1_ENST00000527651.1_Silent_p.V138V|STIM1_ENST00000527484.1_3'UTR	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	138	SAM.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		ATGAGGTGGTACAGTGGCTGA	0.517000													6	13					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818570	200818570	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:200818570G>A	ENST00000358823.2	+	11	2943	c.2673G>A	c.(2671-2673)ctG>ctA	p.L891L	CAMSAP2_ENST00000413307.2_Silent_p.L875L|CAMSAP2_ENST00000236925.4_Silent_p.L902L	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	902						cytoplasm|microtubule	protein binding										ATTCATCCCTGCATTTTCTAC	0.408000													62	310					0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81777879	81777879	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:81777879G>T	ENST00000550584.2	-	8	1202	c.907C>A	c.(907-909)Cag>Aag	p.Q303K	PPFIA2_ENST00000552948.1_Missense_Mutation_p.Q303K|RP11-315E17.1_ENST00000546936.1_RNA|PPFIA2_ENST00000333447.7_Missense_Mutation_p.Q285K|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000549325.1_Missense_Mutation_p.Q285K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.Q229K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.Q150K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.Q204K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.Q303K|PPFIA2_ENST00000549396.1_Missense_Mutation_p.Q303K	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	229										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTGCTTCCTGTTCCACCTCT	0.413000													5	69					0.00116845	0.00122611	1	1	0
ATPAF2	91647	broad.mit.edu	37	17	17942265	17942265	+	Silent	SNP	A	A	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:17942265A>C	ENST00000474627.3	-	1	217	c.63T>G	c.(61-63)ggT>ggG	p.G21G	ATPAF2_ENST00000585101.1_Silent_p.G21G	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	21					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					CGCTGGGGCCACCCGCCGGCC	0.672000													7	28					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150900904	150900904	+	Silent	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:150900904C>G	ENST00000261800.5	-	18	11262	c.11250G>C	c.(11248-11250)acG>acC	p.T3750T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3750					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)			CGGTGCTGTACGTGGGCCCAA	0.607000													14	56					0	0	1	0	0
PRC1	9055	broad.mit.edu	37	15	91522525	91522525	+	Splice_Site	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:91522525C>T	ENST00000361188.5	-	8	2182		c.e8-1		PRC1_ENST00000394249.3_Splice_Site|PRC1_ENST00000442656.2_Splice_Site|PRC1_ENST00000361919.3_Splice_Site|PRC1-AS1_ENST00000554388.1_RNA			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1						cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTGTAGTCCTCTGCAAAATAT	0.388000													36	112					0	0	1	0	0
SLC39A5	283375	broad.mit.edu	37	12	56625202	56625202	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:56625202C>A	ENST00000266980.4	+	2	437	c.144C>A	c.(142-144)ggC>ggA	p.G48G	SLC39A5_ENST00000454355.2_Silent_p.G48G	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	48					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCTGTACGGCGAGAATGGGA	0.657000													70	125					5.00936e-31	9.41759e-31	1	1	0
TTC40	54777	broad.mit.edu	37	10	134743096	134743096	+	Missense_Mutation	SNP	C	C	A	rs139176367	byFrequency	TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:134743096C>A	ENST00000368585.3	-	9	1417	c.1079G>T	c.(1078-1080)cGg>cTg	p.R360L	TTC40_ENST00000368586.5_Intron|TTC40_ENST00000368582.2_Intron			Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	0										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						AACCACGGACCGAAGCCCTGG	0.532000													26	123					1.42536e-11	1.9734e-11	1	1	0
CRY1	1407	broad.mit.edu	37	12	107393832	107393832	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:107393832C>G	ENST00000008527.5	-	6	1580	c.713G>C	c.(712-714)cGa>cCa	p.R238P		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	238	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						CGCATTCATTCGAGGTCTTTC	0.363000													13	133					0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46967116	46967116	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:46967116G>A	ENST00000264318.3	-	8	1987	c.1005C>T	c.(1003-1005)atC>atT	p.I335I		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	335					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAGCAAACTCGATAAGGGCCG	0.463000													12	266					0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39884047	39884047	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:39884047C>A	ENST00000310778.5	-	8	1251	c.1242G>T	c.(1240-1242)tcG>tcT	p.S414S	HAP1_ENST00000341193.5_Intron|HAP1_ENST00000347901.4_Silent_p.S414S|HAP1_ENST00000393939.2_Intron|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	414	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TTTCCTTCTCCGAAGCCAGCT	0.622000													14	44					9.7654e-05	0.000107263	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53573739	53573739	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:53573739C>A	ENST00000342160.3	-	68	11141	c.10684G>T	c.(10684-10686)Ggg>Tgg	p.G3562W	HUWE1_ENST00000262854.6_Missense_Mutation_p.G3562W|HUWE1_ENST00000474288.1_5'UTR			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3562					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGCTGCCCCCATCACTCACC	0.502000													18	26					3.51602e-12	4.98381e-12	1	1	0
ZKSCAN5	23660	broad.mit.edu	37	7	99123877	99123877	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:99123877A>C	ENST00000394170.2	+	6	1465	c.1214A>C	c.(1213-1215)cAg>cCg	p.Q405P	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.Q405P|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.Q405P	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	405					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TACAAATGTCAGGTGTGCGGA	0.567000													26	282					0	0	1	0	0
G6PC	2538	broad.mit.edu	37	17	41052998	41052998	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:41052998G>T	ENST00000253801.2	+	1	184	c.105G>T	c.(103-105)gtG>gtT	p.V35V	G6PC_ENST00000585489.1_Silent_p.V35V|G6PC_ENST00000592383.1_Silent_p.V35V	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	35					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGGTGTCCGTGATCGCAGACC	0.493000													34	244					8.88839e-20	1.51476e-19	1	1	0
SNAI2	6591	broad.mit.edu	37	8	49832867	49832867	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:49832867A>T	ENST00000396822.1	-	3	570	c.213T>A	c.(211-213)aaT>aaA	p.N71K	SNAI2_ENST00000020945.1_Missense_Mutation_p.N71K			O43623	SNAI2_HUMAN	snail family zinc finger 2	71					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N71N(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GAGAGAGGCCATTGGGTAGCT	0.577000													43	260					0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55860185	55860185	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:55860185C>A	ENST00000422046.2	-	3	561	c.280G>T	c.(280-282)Ggg>Tgg	p.G94W	CES1_ENST00000360526.3_Missense_Mutation_p.G95W|CES1_ENST00000566555.1_5'UTR|CES1_ENST00000361503.4_Missense_Mutation_p.G94W			P23141	EST1_HUMAN	carboxylesterase 1	94					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	AGTAACTGCCCCGCCTTGGGA	0.498000													27	220					3.73808e-20	6.41944e-20	1	1	0
CHAT	1103	broad.mit.edu	37	10	50870705	50870705	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:50870705G>T	ENST00000395562.2	+	15	2077	c.1608G>T	c.(1606-1608)atG>atT	p.M536I	CHAT_ENST00000395559.2_Missense_Mutation_p.M500I|CHAT_ENST00000351556.3_Missense_Mutation_p.M500I|CHAT_ENST00000339797.1_Missense_Mutation_p.M500I|CHAT_ENST00000337653.2_Missense_Mutation_p.M618I|CHAT_ENST00000455728.2_Missense_Mutation_p.M500I	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	618					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TAACAGGGATGGCCATTGACA	0.567000													32	149					1.74807e-11	2.40528e-11	1	1	0
MAGEB18	286514	broad.mit.edu	37	X	26157440	26157440	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:26157440C>T	ENST00000325250.1	+	2	525	c.338C>T	c.(337-339)tCg>tTg	p.S113L		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	113	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AAAGTAGTGTCGCTGGTGCAT	0.408000													6	26					0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1381978	1381978	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:1381978C>A	ENST00000359786.5	-	10	1468	c.1144G>T	c.(1144-1146)Gcc>Tcc	p.A382S	MYO1C_ENST00000438665.2_Missense_Mutation_p.A363S|MYO1C_ENST00000575158.1_Missense_Mutation_p.A347S|MYO1C_ENST00000361007.2_Missense_Mutation_p.A347S|MYO1C_ENST00000573198.1_5'UTR|MYO1C_ENST00000545534.2_Missense_Mutation_p.A358S	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	382	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)		ACAGCCTTGGCGAGGGCGTCT	0.627000													34	73					3.67414e-24	6.61493e-24	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77618294	77618294	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:77618294G>T	ENST00000521891.2	+	2	2419	c.1971G>T	c.(1969-1971)caG>caT	p.Q657H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q657H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q657H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q657H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	657						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATATCAGCAGACCCTGGAGG	0.507000										HNSCC(33;0.089)			16	82					4.14922e-12	5.82587e-12	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146829394	146829394	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:146829394A>G	ENST00000361727.3	+	8	1657	c.1141A>G	c.(1141-1143)Aca>Gca	p.T381A		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	381					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTTCAACGCTACAAGTTACCT	0.463000										HNSCC(39;0.1)			19	193					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449725	105449725	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:105449725A>T	ENST00000337685.2	+	5	1085	c.300A>T	c.(298-300)agA>agT	p.R100S	MUM1L1_ENST00000357175.2_Missense_Mutation_p.R100S|MUM1L1_ENST00000372552.1_Missense_Mutation_p.R100S	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	100										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGAATGAGAGAACAAATTTGA	0.433000													8	29					0	0	1	0	0
HNRNPK	3190	broad.mit.edu	37	9	86586853	86586853	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr9:86586853C>A	ENST00000376263.3	-	11	1120	c.897G>T	c.(895-897)cgG>cgT	p.R299R	HNRNPK_ENST00000360384.5_Silent_p.R299R|HNRNPK_ENST00000376264.2_Silent_p.R299R|HNRNPK_ENST00000376281.4_Silent_p.R299R|HNRNPK_ENST00000351839.3_Silent_p.R299R	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	299	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						TGCTACCACCCCGGCCGCCTC	0.562000													10	129					4.68919e-08	5.873e-08	1	1	0
CERKL	375298	broad.mit.edu	37	2	182403841	182403841	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:182403841C>A	ENST00000410087.3	-	12	1616	c.1516G>T	c.(1516-1518)Gtt>Ttt	p.V506F	CERKL_ENST00000409440.3_Missense_Mutation_p.V488F|CERKL_ENST00000374970.2_Missense_Mutation_p.V437F|CERKL_ENST00000339098.5_Missense_Mutation_p.V532F|CERKL_ENST00000374969.2_Missense_Mutation_p.V393F	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	532					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TCTGATGCAACTTCCATTAAG	0.373000													46	215					1.30916e-28	2.43053e-28	1	1	0
ATP13A5	344905	broad.mit.edu	37	3	193049046	193049046	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:193049046G>A	ENST00000342358.4	-	12	1444	c.1327C>T	c.(1327-1329)Cct>Tct	p.P443S		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	443					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AGCACTGGAGGGACAGTCACG	0.502000													21	102					0	0	1	0	0
SNX29	92017	broad.mit.edu	37	16	12145968	12145968	+	Missense_Mutation	SNP	A	A	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:12145968A>C	ENST00000566228.1	+	8	1082	c.1013A>C	c.(1012-1014)cAg>cCg	p.Q338P		NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	0	PX.				cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TTTGGGTACCAGAAGCTTGAT	0.488000													39	236					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37325577	37325577	+	Silent	SNP	G	G	T	rs115323841	byFrequency	TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:37325577G>T	ENST00000373091.3	-	6	844	c.828C>A	c.(826-828)ggC>ggA	p.G276G	GRIK3_ENST00000373093.4_Silent_p.G276G	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	276					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TCAGGTTCACGCCTGAGTAGC	0.572000													21	124					1.96292e-10	2.61235e-10	1	1	0
BAI3	577	broad.mit.edu	37	6	69758160	69758160	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:69758160T>A	ENST00000370598.1	+	14	3012	c.2191T>A	c.(2191-2193)Tgg>Agg	p.W731R		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	731					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATGGTTGACTGGGCAAGAAA	0.378000													16	96					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38946697	38946697	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:38946697G>A	ENST00000450244.1	-	11	1787	c.1589C>T	c.(1588-1590)aCc>aTc	p.T530I	SCN11A_ENST00000302328.3_Missense_Mutation_p.T530I|SCN11A_ENST00000444237.2_Missense_Mutation_p.T530I|SCN11A_ENST00000456224.3_Missense_Mutation_p.T530I			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	530					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CATGGTGATGGTGAGGATGCT	0.488000													63	239					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198701651	198701651	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:198701651C>A	ENST00000367376.2	+	20	2273	c.2102C>A	c.(2101-2103)gCa>gAa	p.A701E	PTPRC_ENST00000594404.1_Missense_Mutation_p.A540E|PTPRC_ENST00000442510.2_Missense_Mutation_p.A703E|PTPRC_ENST00000348564.6_Missense_Mutation_p.A542E|PTPRC_ENST00000352140.3_Missense_Mutation_p.A653E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	701	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AACGGAGATGCAGGGTCAAAC	0.318000													7	68					0.248553	0.249671	1	1	0
SPPL2A	84888	broad.mit.edu	37	15	51028913	51028913	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:51028913C>A	ENST00000261854.5	-	7	1032	c.758G>T	c.(757-759)tGc>tTc	p.C253F		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	253						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TGATGCTATGCAGAAAATTGC	0.313000													12	77					3.07112e-06	3.56633e-06	1	1	0
CNTN3	5067	broad.mit.edu	37	3	74344343	74344343	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:74344343A>T	ENST00000263665.6	-	18	2473	c.2446T>A	c.(2446-2448)Tcc>Acc	p.S816T		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	816	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ATTTCTGAGGAAGATAGGCTA	0.378000													18	96					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131487747	131487747	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:131487747G>T	ENST00000261654.5	+	10	1603	c.1044G>T	c.(1042-1044)ctG>ctT	p.L348L	GPR133_ENST00000535015.1_Silent_p.L380L|GPR133_ENST00000376682.4_Silent_p.L34L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	348					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCGTGGTACTGAGTCTCATCG	0.602000													28	319					2.65835e-16	4.20905e-16	1	1	0
TNK2	10188	broad.mit.edu	37	3	195594872	195594872	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:195594872C>A	ENST00000333602.6	-	12	2869	c.2252G>T	c.(2251-2253)cGc>cTc	p.R751L	TNK2_ENST00000381916.2_Missense_Mutation_p.R829L|TNK2_ENST00000428187.1_Missense_Mutation_p.R783L|TNK2_ENST00000392400.1_Missense_Mutation_p.R751L	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	751	EBD domain (By similarity).|Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GACGTGTGGGCGCGTGGGCCG	0.766000													7	5					0.0381472	0.0388432	1	1	0
TLR4	7099	broad.mit.edu	37	9	120476869	120476869	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr9:120476869G>T	ENST00000355622.6	+	3	2564	c.2463G>T	c.(2461-2463)tgG>tgT	p.W821C	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.W781C	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	821					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GTAAATCATGGAATCCAGAAG	0.498000													49	142					2.81731e-22	4.91378e-22	1	1	0
BPTF	2186	broad.mit.edu	37	17	65850855	65850855	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:65850855G>T	ENST00000321892.4	+	2	1474	c.1413G>T	c.(1411-1413)tgG>tgT	p.W471C	BPTF_ENST00000424123.3_Missense_Mutation_p.W332C|BPTF_ENST00000306378.6_Missense_Mutation_p.W471C|BPTF_ENST00000335221.5_Missense_Mutation_p.W471C			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	471					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGAAATACTGGTTCTTGAACC	0.358000													13	122					0.000151284	0.000164954	1	1	0
LOC440040	440040	broad.mit.edu	37	11	49831294	49831294	+	RNA	SNP	T	T	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:49831294T>G	ENST00000527477.1	+	0	1519																											tatttTGCAGTGGATATTACT	0.299000													3	21					0	0	1	0	0
ATRIP	84126	broad.mit.edu	37	3	48501867	48501867	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:48501867G>A	ENST00000412052.1	+	8	1597	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	ATRIP_ENST00000346691.4_Missense_Mutation_p.E472K|ATRIP_ENST00000320211.3_Missense_Mutation_p.E472K|ATRIP_ENST00000357105.6_Missense_Mutation_p.E345K	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	472					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTGCATCCTGGAAGGCTTCTC	0.572000								Other conserved DNA damage response genes					26	146					0	0	1	0	0
TMEM214	54867	broad.mit.edu	37	2	27261635	27261635	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:27261635G>T	ENST00000238788.9	+	12	1421	c.1359G>T	c.(1357-1359)aaG>aaT	p.K453N	TMEM214_ENST00000404032.3_Missense_Mutation_p.K408N	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	453						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGCTGAGGAAGGGTAGCAGTA	0.532000													7	60					8.12818e-05	8.95002e-05	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	148112634	148112634	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:148112634G>T	ENST00000361727.3	+	24	4438	c.3922G>T	c.(3922-3924)Gac>Tac	p.D1308Y	CNTNAP2_ENST00000463592.2_3'UTR|CNTNAP2_ENST00000538075.1_Missense_Mutation_p.D367Y	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1308					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGAGAGCGCGGACGCCGCCAT	0.552000										HNSCC(39;0.1)			14	131					0.000219431	0.000237806	1	1	0
EFHB	151651	broad.mit.edu	37	3	19975088	19975088	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:19975088C>A	ENST00000295824.9	-	1	584	c.423G>T	c.(421-423)ggG>ggT	p.G141G	EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	141					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CTCTCCTGCTCCCTGCAGCCT	0.493000													75	115					6.72169e-28	1.24275e-27	1	1	0
ICOS	29851	broad.mit.edu	37	2	204820472	204820472	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:204820472G>T	ENST00000316386.6	+	2	239	c.172G>T	c.(172-174)Ggg>Tgg	p.G58W	ICOS_ENST00000435193.1_Missense_Mutation_p.G58W	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	58	Ig-like V-type.				immune response|T cell costimulation	extracellular region		p.Q60fs*8(1)		breast(1)|large_intestine(1)|lung(4)	6						GTTGCTGAAAGGGGGGCAAAT	0.383000													44	207					2.26627e-22	3.96044e-22	1	1	0
KDM1B	221656	broad.mit.edu	37	6	18200802	18200802	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:18200802G>T	ENST00000388870.2	+	13	1595	c.1354G>T	c.(1354-1356)Gaa>Taa	p.E452*	KDM1B_ENST00000297792.5_Nonsense_Mutation_p.E320*|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Nonsense_Mutation_p.E320*			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	452					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						ATTAATGTGTGAACAAGTGAG	0.368000													23	113					1.10513e-12	1.60469e-12	1	1	0
NFASC	23114	broad.mit.edu	37	1	204926894	204926894	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:204926894C>A	ENST00000367172.4	+	8	974	c.646C>A	c.(646-648)Cgc>Agc	p.R216S	NFASC_ENST00000367170.4_Missense_Mutation_p.R216S|NFASC_ENST00000367171.4_Missense_Mutation_p.R216S|NFASC_ENST00000404907.1_Missense_Mutation_p.R210S|NFASC_ENST00000339876.6_Missense_Mutation_p.R216S|NFASC_ENST00000367169.4_Missense_Mutation_p.R216S|NFASC_ENST00000338515.6_Missense_Mutation_p.R216S|NFASC_ENST00000513543.1_Missense_Mutation_p.R210S|NFASC_ENST00000360049.4_Missense_Mutation_p.R210S|NFASC_ENST00000539706.1_Missense_Mutation_p.R210S|NFASC_ENST00000338586.6_Missense_Mutation_p.R216S|NFASC_ENST00000404076.1_Missense_Mutation_p.R210S|NFASC_ENST00000401399.1_Missense_Mutation_p.R216S|NFASC_ENST00000403080.1_Missense_Mutation_p.R216S			O94856	NFASC_HUMAN	neurofascin	216	Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTGTAACGCCCGCTTCCACTT	0.557000													21	135					1.15919e-05	1.31365e-05	1	1	0
PPIL2	23759	broad.mit.edu	37	22	22026636	22026636	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr22:22026636T>C	ENST00000406385.1	+	5	269	c.209T>C	c.(208-210)cTt>cCt	p.L70P	PPIL2_ENST00000456792.2_Missense_Mutation_p.L49P|PPIL2_ENST00000335025.7_Missense_Mutation_p.L70P|PPIL2_ENST00000398831.3_Missense_Mutation_p.L70P|PPIL2_ENST00000412327.1_Missense_Mutation_p.L70P|PPIL2_ENST00000492445.2_Missense_Mutation_p.L70P			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	70	U-box.				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					GTTCCATGGCTTAAGAAGTAC	0.507000													31	73					0	0	1	0	0
MED14	9282	broad.mit.edu	37	X	40523721	40523721	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:40523721G>A	ENST00000324817.1	-	25	3404	c.3286C>T	c.(3286-3288)Cca>Tca	p.P1096S		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1096	Pro-rich.				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			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATAGTGTATGGGGAACTAGGG	0.433000													9	17					0	0	1	0	0
HIST1H4D	8360	broad.mit.edu	37	6	26189097	26189097	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:26189097C>G	ENST00000340756.2	-	1	207	c.208G>C	c.(208-210)Gct>Cct	p.A70P		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	70					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				TAGGTGACAGCATCGCGGATT	0.577000													22	118					0	0	1	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181814	128181814	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:128181814G>T	ENST00000469083.1	-	2	2832	c.275C>A	c.(274-276)aCc>aAc	p.T92N	DNAJB8_ENST00000319153.3_Missense_Mutation_p.T92N			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	92					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		GTTACGGAAGGTGTAGCCGGT	0.602000													25	146					4.4004e-07	5.30305e-07	1	1	0
MCMBP	79892	broad.mit.edu	37	10	121619312	121619312	+	Splice_Site	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:121619312C>A	ENST00000360003.3	-	2	312	c.144_splice	c.e2+1	p.W48_splice	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Splice_Site_p.W48_splice	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	48					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TAAGCTTACCCACTTAGGAGC	0.348000													11	76					1.58986e-06	1.87302e-06	1	1	0
ZNF804B	219578	broad.mit.edu	37	7	88963284	88963284	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:88963284C>T	ENST00000333190.4	+	4	1597	c.988C>T	c.(988-990)Cat>Tat	p.H330Y		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	330						intracellular	zinc ion binding	p.H330Y(1)|p.H330D(1)		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)			ATCTAACATTCATCTTTCAGA	0.338000										HNSCC(36;0.09)			34	85					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44841774	44841774	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:44841774G>T	ENST00000372262.3	-	5	1292	c.892C>A	c.(892-894)Cgt>Agt	p.R298S	CDH22_ENST00000537909.1_Missense_Mutation_p.R298S|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	298	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GCCTTCACACGTCCCACAGCC	0.592000													7	71					0.000157383	0.000170769	1	1	0
SYNPO2L	79933	broad.mit.edu	37	10	75407505	75407505	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:75407505C>G	ENST00000394810.2	-	4	2054	c.1905G>C	c.(1903-1905)caG>caC	p.Q635H	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.Q411H|SYNPO2L_ENST00000372872.4_Intron	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	635	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCCGGAACATCTGCTTCCGGG	0.687000													45	165					0	0	1	0	0
OR8B4	283162	broad.mit.edu	37	11	124294421	124294421	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:124294421G>A	ENST00000356130.3	-	1	368	c.347C>T	c.(346-348)tCa>tTa	p.S116L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ATAGGCCATTGATACCAACAC	0.433000													50	98					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107844671	107844671	+	Missense_Mutation	SNP	G	G	C	rs104886153		TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:107844671G>C	ENST00000328300.6	+	26	2241	c.1997G>C	c.(1996-1998)gGc>gCc	p.G666A	COL4A5_ENST00000361603.2_Missense_Mutation_p.G666A	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	666	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGGAAGCCTGGCTTGCCTGGT	0.423000									Alport syndrome with Diffuse Leiomyomatosis				5	25					0	0	1	0	0
S100A7A	338324	broad.mit.edu	37	1	153390584	153390584	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:153390584C>T	ENST00000368729.4	+	2	83	c.26C>T	c.(25-27)tCc>tTc	p.S9F	S100A7A_ENST00000368728.2_Missense_Mutation_p.S9F|S100A7A_ENST00000329256.2_Missense_Mutation_p.S9F	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	9						cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGAGAGGTCCATAATAGGC	0.418000													58	239					0	0	1	0	0
AIFM2	84883	broad.mit.edu	37	10	71874072	71874072	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:71874072G>A	ENST00000307864.1	-	9	1197	c.984C>T	c.(982-984)ttC>ttT	p.F328F	AIFM2_ENST00000373248.1_Silent_p.F328F	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	328					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						TGGACAGGAGGAACGTCAGTG	0.592000													28	63					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16216667	16216667	+	Silent	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:16216667A>T	ENST00000339732.5	+	1	512	c.9A>T	c.(7-9)ctA>ctT	p.L3L	GALNT15_ENST00000437509.1_Silent_p.L3L	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		ACATGCTCCTAAGGAAGCGAT	0.547000													43	89					0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2776938	2776938	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:2776938C>A	ENST00000380605.2	-	9	1261	c.1197G>T	c.(1195-1197)ctG>ctT	p.L399L		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	399					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TGGAGGGCAGCAGGTGAATGC	0.622000													16	97					1.15088e-07	1.41756e-07	1	1	0
NES	10763	broad.mit.edu	37	1	156640403	156640403	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:156640403C>A	ENST00000368223.3	-	4	3709	c.3577G>T	c.(3577-3579)Ggc>Tgc	p.G1193C		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1193	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)					CCAGTGTGGCCCAGGGTCTCA	0.642000													12	183					0.00010058	0.000110206	1	1	0
GHR	2690	broad.mit.edu	37	5	42699934	42699934	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:42699934G>T	ENST00000230882.4	+	6	638	c.448G>T	c.(448-450)Gat>Tat	p.D150Y	GHR_ENST00000357703.3_Missense_Mutation_p.D128Y|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	150	Fibronectin type-III.				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGTGCAACCAGATCCACCCAT	0.413000													33	104					1.26612e-14	1.92286e-14	1	1	0
PDZRN3	23024	broad.mit.edu	37	3	73657782	73657782	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:73657782C>A	ENST00000263666.4	-	2	891	c.777G>T	c.(775-777)ctG>ctT	p.L259L	PDZRN3_ENST00000308537.4_Silent_p.L259L	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	259	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TATTGAATCCCAGGGAGCCGG	0.438000													4	27					1.23904e-05	1.40059e-05	1	1	0
ZWILCH	55055	broad.mit.edu	37	15	66811398	66811398	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:66811398T>C	ENST00000307897.5	+	5	882	c.502T>C	c.(502-504)Tat>Cat	p.Y168H	ZWILCH_ENST00000535141.2_Missense_Mutation_p.Y54H|ZWILCH_ENST00000446801.2_Missense_Mutation_p.Y54H|ZWILCH_ENST00000565960.1_Intron|RPL4_ENST00000568588.1_Intron|RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000565627.1_Missense_Mutation_p.Y54H	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	168					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						AATTGTCTTATATGTGGTCAG	0.373000													17	178					0	0	1	0	0
CACUL1	143384	broad.mit.edu	37	10	120460919	120460919	+	Splice_Site	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:120460919T>A	ENST00000369151.3	-	5	1178	c.693_splice	c.e5-1	p.N232_splice	CACUL1_ENST00000544392.1_5'UTR|CACUL1_ENST00000340214.4_Splice_Site_p.N232_splice	NM_153810.4	NP_722517.3			CDK2-associated, cullin domain 1									p.N232S(1)									GTAAAACTTATTCTGAAAAAT	0.299000													17	70					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93749271	93749271	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:93749271G>T	ENST00000265990.6	+	20	3096	c.2788G>T	c.(2788-2790)Gac>Tac	p.D930Y		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	930					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ACTTTGTGTGGACCCATATCT	0.413000													13	125					1.52009e-12	2.19296e-12	1	1	0
HNF4A	3172	broad.mit.edu	37	20	43052756	43052756	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:43052756C>T	ENST00000316099.3	+	8	1080	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	HNF4A_ENST00000457232.1_Missense_Mutation_p.R309C|HNF4A_ENST00000415691.1_Missense_Mutation_p.R331C|HNF4A_ENST00000443598.2_Missense_Mutation_p.R331C	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	331					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.R331G(2)|p.R309G(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GTATGACTCGCGTGGCCGCTT	0.592000													6	36					0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98188785	98188785	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:98188785G>A	ENST00000332650.5	+	1	462	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTATGACCGCTATGTGGCC	0.458000													82	300					0	0	1	0	0
FUK	197258	broad.mit.edu	37	16	70501838	70501838	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:70501838G>T	ENST00000288078.6	+	8	864	c.632G>T	c.(631-633)cGg>cTg	p.R211L	FUK_ENST00000378912.2_Missense_Mutation_p.R243L|FUK_ENST00000571514.1_Intron	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	211						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GAGATTCAGCGGTGTGTCAGG	0.592000													12	96					2.80697e-09	3.63279e-09	1	1	0
PNLIPRP2	5408	broad.mit.edu	37	10	118389574	118389574	+	RNA	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:118389574G>A	ENST00000537242.1	+	0	723				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		CCTTCCCTAGGTGAGTTCCTC	0.507000													6	11					0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072858	17072858	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr22:17072858C>A	ENST00000359963.3	-	1	842	c.583G>T	c.(583-585)Gac>Tac	p.D195Y		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	195					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AAGCTGCCGTCTAGTTCCTTG	0.612000													29	146					4.87955e-14	7.28669e-14	1	1	0
WBSCR17	64409	broad.mit.edu	37	7	70800599	70800599	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:70800599C>A	ENST00000333538.5	+	2	936	c.302C>A	c.(301-303)gCt>gAt	p.A101D	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	101						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)				GGCCTTCCGGCTACTCTTTCC	0.453000													13	103					1.41608e-15	2.19923e-15	1	1	0
TIE1	7075	broad.mit.edu	37	1	43779074	43779074	+	Silent	SNP	A	A	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:43779074A>G	ENST00000372476.3	+	13	2275	c.2196A>G	c.(2194-2196)gtA>gtG	p.V732V	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Silent_p.V377V	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	732	Fibronectin type-III 3.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCAACACAGTAGAAGAGTCCA	0.657000													18	137					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35683514	35683514	+	Silent	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr13:35683514T>C	ENST00000540320.1	+	12	2302	c.1768T>C	c.(1768-1770)Ttg>Ctg	p.L590L	NBEA_ENST00000379939.2_Silent_p.L590L|NBEA_ENST00000400445.3_Silent_p.L590L|NBEA_ENST00000310336.4_Silent_p.L590L			Q8NFP9	NBEA_HUMAN	neurobeachin	590						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGGAGCACCTTTGCTGAAGCA	0.348000													10	45					0	0	1	0	0
WNT8B	7479	broad.mit.edu	37	10	102242544	102242544	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:102242544G>A	ENST00000343737.5	+	6	1155	c.1027G>A	c.(1027-1029)Gct>Act	p.A343T		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	343					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		GCGGGGGGGCGCTGCGCACAA	0.622000											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	19					0	0	1	0	0
TRAV24	28659	broad.mit.edu	37	14	22573858	22573858	+	RNA	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:22573858G>T	ENST00000390453.1	+	0	78																											TACTGAACGTGGAACAAAGTC	0.433000													9	35					2.17888e-05	2.44133e-05	1	1	0
DEFB116	245930	broad.mit.edu	37	20	29891225	29891225	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:29891225G>T	ENST00000400549.1	-	2	98	c.99C>A	c.(97-99)agC>agA	p.S33R		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	33					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)			AAGGCTCTCGGCTCTTGCCAT	0.448000													37	293					5.8336e-16	9.17149e-16	1	1	0
C2orf54	79919	broad.mit.edu	37	2	241829465	241829465	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:241829465C>G	ENST00000307486.8	-	3	502	c.404G>C	c.(403-405)cGt>cCt	p.R135P	C2orf54_ENST00000402775.2_Missense_Mutation_p.R116P|C2orf54_ENST00000388934.4_Missense_Mutation_p.R284P			Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	284										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GCCACTGTCACGCCAGCTCTC	0.667000													13	71					0	0	1	0	0
ZNF713	349075	broad.mit.edu	37	7	55991392	55991392	+	Splice_Site	SNP	G	G	T	rs151202323		TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:55991392G>T	ENST00000429591.2	+	3	306	c.268_splice	c.e3+1	p.D90_splice	ZNF713_ENST00000482436.1_3'UTR|MRPS17_ENST00000426595.1_Splice_Site_p.G90_splice	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D90H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TACTCATCCAGGTAAGTGCAC	0.478000													5	40					0.184627	0.186296	1	1	0
C8orf31	286122	broad.mit.edu	37	8	144126080	144126080	+	Silent	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:144126080C>T	ENST00000395172.1	+	4	553	c.201C>T	c.(199-201)gcC>gcT	p.A67A	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	67										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGCCCTCTGCCCTGGCACCCC	0.627000													12	57					0	0	1	0	0
KBTBD8	84541	broad.mit.edu	37	3	67053805	67053805	+	Silent	SNP	A	A	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:67053805A>G	ENST00000295568.4	+	3	467	c.336A>G	c.(334-336)caA>caG	p.Q112Q	KBTBD8_ENST00000417314.2_Silent_p.Q138Q|KBTBD8_ENST00000469661.1_Intron|KBTBD8_ENST00000460576.1_Intron	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	138	BTB.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TCCAAGACCAATGTGCTAAGT	0.423000													61	255					0	0	1	0	0
BUB3	9184	broad.mit.edu	37	10	124920023	124920023	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:124920023G>C	ENST00000368865.4	+	5	727	c.518G>C	c.(517-519)cGc>cCc	p.R173P	BUB3_ENST00000538238.1_Missense_Mutation_p.R93P|BUB3_ENST00000368858.5_Missense_Mutation_p.R173P|BUB3_ENST00000368859.2_Intron	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	173					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				GTGCAGCAGCGCAGGGAGTCC	0.502000													25	168					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140166965	140166965	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:140166965C>A	ENST00000504120.2	+	1	1090	c.1090C>A	c.(1090-1092)Cca>Aca	p.P364T	PCDHA1_ENST00000378133.3_Missense_Mutation_p.P364T|PCDHA1_ENST00000394633.3_Missense_Mutation_p.P364T	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)			AGAGGACGCTCCACTCAGCAC	0.517000													41	121					4.46736e-08	5.60303e-08	1	1	0
HSD17B2	3294	broad.mit.edu	37	16	82131955	82131955	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:82131955G>T	ENST00000199936.4	+	5	1271	c.1078G>T	c.(1078-1080)Gat>Tat	p.D360Y	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	360					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	TGGCATATATGATTACTTTGC	0.468000													29	197					7.26314e-15	1.10872e-14	1	1	0
ANKRD17	26057	broad.mit.edu	37	4	74005370	74005370	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:74005370G>A	ENST00000358602.4	-	15	3079	c.2963C>T	c.(2962-2964)cCa>cTa	p.P988L	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.P875L|ANKRD17_ENST00000330838.6_Intron	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	988	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCCCAGTACTGGCTGTCCAAC	0.557000													11	64					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133898950	133898950	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:133898950C>T	ENST00000220616.4	+	9	1373	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*	TG_ENST00000377869.1_Nonsense_Mutation_p.R445*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	445					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGAAGCCATCCGAGCAATTTT	0.498000													18	333					0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124266638	124266638	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:124266638C>A	ENST00000354597.3	-	1	626	c.610G>T	c.(610-612)Ggt>Tgt	p.G204C		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATATTAATACCCACAACAATG	0.413000													90	220					4.78148e-37	9.26218e-37	1	1	0
CDH12	1010	broad.mit.edu	37	5	21802366	21802366	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:21802366T>C	ENST00000382254.1	-	10	2252	c.1166A>G	c.(1165-1167)tAc>tGc	p.Y389C	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.Y389C|CDH12_ENST00000522262.1_Missense_Mutation_p.Y349C	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	389	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CTCCATGGTGTAGAGCGGCTT	0.542000										HNSCC(59;0.17)			9	103					0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87637016	87637016	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:87637016G>A	ENST00000284262.2	+	1	506	c.264G>A	c.(262-264)acG>acA	p.T88T		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	88	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GCGAGTGGACGCACGGATTCA	0.692000													11	17					0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50302908	50302908	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:50302908G>A	ENST00000354293.5	+	10	1323	c.1157G>A	c.(1156-1158)cGg>cAg	p.R386Q	AP2A1_ENST00000359032.5_Missense_Mutation_p.R386Q	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	386					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		GTCAGCGTGCGGCAGCGGGCG	0.647000													23	121					0	0	1	0	0
DYNC1I2	1781	broad.mit.edu	37	2	172586275	172586275	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:172586275A>G	ENST00000534253.2	+	15	1616	c.1448A>G	c.(1447-1449)cAt>cGt	p.H483R	DYNC1I2_ENST00000358002.6_Missense_Mutation_p.H475R|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.H477R|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.H457R|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.H457R|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.H483R|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.H475R|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.H477R|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.H483R|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.H483R|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.H457R			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	483					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			ACTGGCATCCATTGTCATGCA	0.393000													44	160					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11565145	11565145	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:11565145G>A	ENST00000304623.8	-	3	387	c.198C>T	c.(196-198)acC>acT	p.T66T	CTNND2_ENST00000503622.1_5'UTR|CTNND2_ENST00000359640.2_Silent_p.T66T|CTNND2_ENST00000511377.1_5'UTR|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	66					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						CCAGCTCTCGGGTCAGCCTTT	0.502000													8	53					0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64360302	64360302	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:64360302T>A	ENST00000377574.1	+	2	1201	c.454T>A	c.(454-456)Tac>Aac	p.Y152N	SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000336464.7_Missense_Mutation_p.Y152N|SLC22A12_ENST00000377572.1_Missense_Mutation_p.Y152N|SLC22A12_ENST00000377567.2_Missense_Mutation_p.Y152N	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	152					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CCAGTCCATCTACCTGGCTGG	0.632000													12	151					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522833	23522833	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:23522833A>T	ENST00000296682.3	+	8	903	c.721A>T	c.(721-723)Agt>Tgt	p.S241C		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	241					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						TTCAGCCCTCAGTCTGCCCCC	0.577000										HNSCC(3;0.000094)			12	89					0	0	1	0	0
ENOX2	10495	broad.mit.edu	37	X	129771232	129771232	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:129771232G>A	ENST00000338144.3	-	12	1786	c.1369C>T	c.(1369-1371)Ctg>Ttg	p.L457L	ENOX2_ENST00000370927.1_Silent_p.L457L|ENOX2_ENST00000370935.1_Silent_p.L428L|ENOX2_ENST00000394363.1_Silent_p.L428L	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	457					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GCTTGTTGCAGGAGTTTCAGC	0.473000													24	240					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180053213	180053213	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:180053213G>C	ENST00000367607.3	+	31	6603	c.6185G>C	c.(6184-6186)cGg>cCg	p.R2062P		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2062						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GATGAGTTGCGGAAAAGAAAA	0.378000													3	17					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113520140	113520140	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:113520140C>A	ENST00000284601.3	-	4	1075	c.1007G>T	c.(1006-1008)aGa>aTa	p.R336I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	336					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCTTTCATCTCTGGAAGCAGT	0.318000													46	218					1.41504e-22	2.49676e-22	1	1	0
KCNU1	157855	broad.mit.edu	37	8	36768521	36768521	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:36768521C>A	ENST00000399881.3	+	22	2442	c.2405C>A	c.(2404-2406)cCc>cAc	p.P802H		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	802						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GTCTTGTCCCCCCCACCCCAG	0.532000													16	68					8.60227e-14	1.27817e-13	1	1	0
C6	729	broad.mit.edu	37	5	41195937	41195937	+	Silent	SNP	G	G	T	rs141862960		TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:41195937G>T	ENST00000263413.3	-	5	808	c.544C>A	c.(544-546)Cgg>Agg	p.R182R	C6_ENST00000337836.5_Silent_p.R182R	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	182	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTATACTTCCGTGTGCATACT	0.443000													63	215					6.75472e-32	1.28067e-31	1	1	0
ZNF728	388523	broad.mit.edu	37	19	23159495	23159495	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:23159495G>T	ENST00000594710.1	-	4	789	c.644C>A	c.(643-645)gCc>gAc	p.A215D		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		ATAAGTAAGGGCTGAGGACCA	0.368000													13	66					5.50884e-06	6.29078e-06	1	1	0
ARFGEF1	10565	broad.mit.edu	37	8	68151123	68151123	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:68151123C>A	ENST00000262215.3	-	21	3374	c.2985G>T	c.(2983-2985)gaG>gaT	p.E995D	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.E449D	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	995					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATGCATCTCTCTCCAGCTATA	0.358000													13	96					9.31168e-06	1.05928e-05	1	1	0
ZNF665	79788	broad.mit.edu	37	19	53668900	53668900	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:53668900C>A	ENST00000600412.1	-	2	763	c.648G>T	c.(646-648)caG>caT	p.Q216H	ZNF665_ENST00000396424.3_Missense_Mutation_p.Q281H			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TATGGATGACCTGATGTGTAG	0.408000													103	316					1.12176e-53	2.23104e-53	1	1	0
ADH7	131	broad.mit.edu	37	4	100341944	100341944	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:100341944G>C	ENST00000437033.2	-	6	1074	c.571C>G	c.(571-573)Cct>Gct	p.P191A	ADH7_ENST00000476959.1_Missense_Mutation_p.P211A|ADH7_ENST00000482593.1_Missense_Mutation_p.P134A|ADH7_ENST00000209665.4_Missense_Mutation_p.P203A			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	203					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	GTGGAACCAGGTTTGACCTGT	0.473000													20	53					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143958546	143958546	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:143958546G>C	ENST00000292427.4	-	3	520	c.488C>G	c.(487-489)gCa>gGa	p.A163G	CYP11B1_ENST00000517471.1_Missense_Mutation_p.A163G|CYP11B1_ENST00000377675.3_Missense_Mutation_p.A234G	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	163					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CCTGGCCACTGCATCCACCAT	0.612000									Familial Hyperaldosteronism type I				11	68					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56098884	56098884	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:56098884G>T	ENST00000426658.2	-	1	1039	c.378C>A	c.(376-378)ccC>ccA	p.P126P	CTCFL_ENST00000423479.2_Silent_p.P126P|CTCFL_ENST00000371196.2_Silent_p.P126P|CTCFL_ENST00000433949.2_Silent_p.P126P|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000243914.3_Silent_p.P126P|CTCFL_ENST00000429804.2_Silent_p.P126P|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000432255.2_Silent_p.P126P|CTCFL_ENST00000422109.2_Silent_p.P126P|CTCFL_ENST00000422869.2_Silent_p.P126P			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	126					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GGCTCTGCCGGGGCCCTTCCT	0.577000													47	168					1.00776e-21	1.74743e-21	1	1	0
NT5C1B	93034	broad.mit.edu	37	2	18766196	18766196	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:18766196G>T	ENST00000304081.4	-	4	407	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	NT5C1B_ENST00000359846.2_Missense_Mutation_p.L163M|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.L163M|NT5C1B_ENST00000600945.1_Missense_Mutation_p.L163M	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GAGTCATGCAGGCTTGGGGAG	0.716000													15	28					1.3612e-06	1.61428e-06	1	1	0
ZIC1	7545	broad.mit.edu	37	3	147128370	147128370	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:147128370C>G	ENST00000282928.4	+	1	1200	c.471C>G	c.(469-471)aaC>aaG	p.N157K		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	157					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CGTCGCCTAACGTGGTCAACG	0.716000													11	19					0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5564843	5564843	+	Splice_Site	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:5564843C>A	ENST00000310917.2	-	22	4151		c.e22-1		EVC2_ENST00000344408.5_Splice_Site|EVC2_ENST00000344938.1_Intron	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2							integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CTTTAATATGCTAAAGAAATA	0.448000													42	243					2.26627e-22	3.96044e-22	1	1	0
SHC4	399694	broad.mit.edu	37	15	49148269	49148269	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:49148269A>G	ENST00000332408.4	-	8	1551	c.1123T>C	c.(1123-1125)Tac>Cac	p.Y375H	SHC4_ENST00000537958.1_Missense_Mutation_p.Y89H|SHC4_ENST00000396535.3_Missense_Mutation_p.Y132H	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	375	CH1.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		ATTTCATTGTAATATTCATGA	0.448000													20	206					0	0	1	0	0
TRAV34	28648	broad.mit.edu	37	14	22675815	22675815	+	RNA	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:22675815T>A	ENST00000390461.2	+	0	139																											CACCATAAACTGCACGTCATC	0.418000													16	52					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118573099	118573099	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:118573099A>T	ENST00000311085.8	+	39	8566	c.8486A>T	c.(8485-8487)aAg>aTg	p.K2829M	DMXL1_ENST00000539542.1_Missense_Mutation_p.K2850M|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2829										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGCATGCCTAAGCCATACCTG	0.299000													20	135					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140186793	140186793	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:140186793C>A	ENST00000530339.1	+	1	21	c.21C>A	c.(19-21)agC>agA	p.S7R	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S7R|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S7R|PCDHA2_ENST00000526136.1_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)			CCTGGGGAAGCGGCCAGGAAT	0.507000													55	145					1.34479e-40	2.62204e-40	1	1	0
NAPRT1	93100	broad.mit.edu	37	8	144660049	144660049	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:144660049C>A	ENST00000449291.2	-	2	585	c.291G>T	c.(289-291)cgG>cgT	p.R97R	NAPRT1_ENST00000276844.7_Silent_p.R97R|NAPRT1_ENST00000426292.3_Silent_p.R97R|NAPRT1_ENST00000435154.3_Silent_p.R97R			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	97					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGTCGAGGGCCCGAAGGTGCT	0.701000													5	59					0.000602214	0.00063945	1	1	0
SCN1A	6323	broad.mit.edu	37	2	166852536	166852536	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:166852536A>G	ENST00000423058.2	-	24	4585	c.4568T>C	c.(4567-4569)aTa>aCa	p.I1523T	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.I1495T|SCN1A_ENST00000375405.3_Missense_Mutation_p.I1512T|SCN1A_ENST00000303395.4_Missense_Mutation_p.I1523T|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1523						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGGTCGAGGTATAGGCTTTTG	0.333000													15	93					0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17663587	17663587	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr22:17663587G>C	ENST00000399839.1	-	8	1416	c.1146C>G	c.(1144-1146)atC>atG	p.I382M	CECR1_ENST00000330232.4_Missense_Mutation_p.I141M|CECR1_ENST00000262607.3_Missense_Mutation_p.I382M|CECR1_ENST00000399837.2_Missense_Mutation_p.I382M|CECR1_ENST00000449907.2_Missense_Mutation_p.I340M			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	382					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				ATCCATGGCCGATTCTGGTAG	0.502000													19	156					0	0	1	0	0
GPR152	390212	broad.mit.edu	37	11	67219091	67219091	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:67219091C>G	ENST00000312457.2	-	1	1109	c.1105G>C	c.(1105-1107)Gat>Cat	p.D369H		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	369						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCTGTGGGATCCGATCGTGGC	0.622000													23	65					0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52918844	52918844	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:52918844G>T	ENST00000360465.3	+	7	1165	c.739G>T	c.(739-741)Ggc>Tgc	p.G247C	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCATGAATGTGGCAAGCTCTT	0.398000													24	231					7.87624e-14	1.17225e-13	1	1	0
PAMR1	25891	broad.mit.edu	37	11	35463054	35463054	+	Silent	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:35463054T>A	ENST00000378880.2	-	7	1453	c.1008A>T	c.(1006-1008)tcA>tcT	p.S336S	PAMR1_ENST00000278360.3_Silent_p.S353S|PAMR1_ENST00000532848.1_Silent_p.S296S|PAMR1_ENST00000378878.3_Silent_p.S225S	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	336	Sushi 1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GCTGTTTCCCTGACCACTCTC	0.418000													16	222					0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261889	21261889	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:21261889T>A	ENST00000311620.5	+	2	1075	c.1002T>A	c.(1000-1002)gaT>gaA	p.D334E		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	334										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GGGATGACGATGAAGTGGAGT	0.522000													24	93					0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123471227	123471227	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:123471227C>A	ENST00000529750.1	+	7	919	c.592C>A	c.(592-594)Cgg>Agg	p.R198R	GRAMD1B_ENST00000456860.2_Silent_p.R205R|GRAMD1B_ENST00000322282.7_Silent_p.R198R	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	198						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GATGATGTTCCGGCTCTGGCA	0.428000													14	37					1.3612e-06	1.61428e-06	1	1	0
GALNT16	57452	broad.mit.edu	37	14	69787440	69787440	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:69787440C>A	ENST00000337827.4	+	2	517	c.190C>A	c.(190-192)Ccc>Acc	p.P64T	GALNT16_ENST00000448469.3_Missense_Mutation_p.P64T|GALNT16_ENST00000553669.1_Missense_Mutation_p.P64T	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16																		GACAGGAACTCCCTCGAAAGG	0.597000													17	156					7.07596e-05	7.84948e-05	1	1	0
SOX6	55553	broad.mit.edu	37	11	16119220	16119220	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:16119220C>T	ENST00000352083.6	-	8	990	c.913G>A	c.(913-915)Gta>Ata	p.V305I	SOX6_ENST00000528252.1_Missense_Mutation_p.V305I|SOX6_ENST00000396356.3_Missense_Mutation_p.V305I|SOX6_ENST00000527619.1_Missense_Mutation_p.V308I|SOX6_ENST00000316399.6_Missense_Mutation_p.V305I|SOX6_ENST00000528429.1_Missense_Mutation_p.V305I			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	305					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						ATGAACTGTACGGGGTAGTTA	0.468000													16	66					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935757	30935757	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:30935757T>A	ENST00000355537.3	+	2	1435	c.1288T>A	c.(1288-1290)Tac>Aac	p.Y430N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	430					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)					GTACTCCAGGTACCTCTCCTG	0.637000													16	126					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25972654	25972654	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:25972654G>A	ENST00000435504.4	-	12	2064	c.1771C>T	c.(1771-1773)Cgc>Tgc	p.R591C	ASXL2_ENST00000404843.1_Missense_Mutation_p.R331C|ASXL2_ENST00000336112.4_Missense_Mutation_p.R563C|ASXL2_ENST00000272341.4_Missense_Mutation_p.R331C			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGTGCTGGCGATTCTCAGTG	0.532000													12	80					0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20110501	20110501	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:20110501C>G	ENST00000381569.1	-	3	1298	c.941G>C	c.(940-942)gGc>gCc	p.G314A	LZTS1_ENST00000265801.6_Missense_Mutation_p.G314A|LZTS1_ENST00000522290.1_Missense_Mutation_p.G314A			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	314					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GAGCTTGTTGCCGCCTTTGGG	0.682000													9	75					0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157740421	157740421	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:157740421C>A	ENST00000361516.3	-	3	136	c.88G>T	c.(88-90)Gaa>Taa	p.E30*	FCRL2_ENST00000368181.4_Nonsense_Mutation_p.E30*|FCRL2_ENST00000392274.3_Nonsense_Mutation_p.E30*	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	30	Ig-like C2-type 1.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTGTCTCCTTCGAAGACAGAA	0.463000													8	86					0.00307968	0.00320531	1	1	0
PCDH15	65217	broad.mit.edu	37	10	56077120	56077120	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:56077120G>T	ENST00000373965.2	-	8	1181	c.787C>A	c.(787-789)Cca>Aca	p.P263T	PCDH15_ENST00000414778.1_Missense_Mutation_p.P268T|PCDH15_ENST00000373957.3_Missense_Mutation_p.P241T|PCDH15_ENST00000437009.1_Missense_Mutation_p.P263T|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.P263T|PCDH15_ENST00000395440.1_Missense_Mutation_p.P263T|PCDH15_ENST00000395442.1_Missense_Mutation_p.P263T|PCDH15_ENST00000395438.1_Missense_Mutation_p.P263T|PCDH15_ENST00000395433.1_Missense_Mutation_p.P241T|PCDH15_ENST00000395445.1_Missense_Mutation_p.P263T|PCDH15_ENST00000361849.3_Missense_Mutation_p.P263T|PCDH15_ENST00000395432.2_Missense_Mutation_p.P226T|PCDH15_ENST00000395430.1_Missense_Mutation_p.P263T|PCDH15_ENST00000395446.1_Missense_Mutation_p.P263T|PCDH15_ENST00000320301.6_Missense_Mutation_p.P263T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	263	Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGAAACATTGGACCCAAGTCA	0.478000										HNSCC(58;0.16)			22	170					1.50039e-11	2.06767e-11	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125521616	125521616	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:125521616C>T	ENST00000431078.1	+	16	2786	c.2422C>T	c.(2422-2424)Cat>Tat	p.H808Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	808	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCCTACCTTCCATGCGGAATT	0.408000													26	155					0	0	1	0	0
RBPMS2	348093	broad.mit.edu	37	15	65040725	65040725	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:65040725C>A	ENST00000300069.4	-	6	727	c.460G>T	c.(460-462)Gcc>Tcc	p.A154S	RBPMS2_ENST00000560606.1_Missense_Mutation_p.A43S	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	154							nucleic acid binding|nucleotide binding			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						GGGGCCCAGGCCTCTGGGGAT	0.617000													35	92					2.20474e-14	3.32012e-14	1	1	0
RP11-909M7.3	0	broad.mit.edu	37	14	101439036	101439036	+	RNA	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:101439036G>T	ENST00000554693.2	+	0	384				SNORD114-15_ENST00000364687.1_RNA																							GGTGGCGTATGAGTCATACAT	0.363000													27	219					2.12542e-12	3.03679e-12	1	1	0
ZNF518B	85460	broad.mit.edu	37	4	10445923	10445923	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:10445923C>A	ENST00000326756.3	-	3	2468	c.2030G>T	c.(2029-2031)gGg>gTg	p.G677V		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	677					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGACGGCTTCCCACAGGACTC	0.438000													51	351					8.00217e-19	1.34575e-18	1	1	0
BEND6	221336	broad.mit.edu	37	6	56882024	56882024	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:56882024A>T	ENST00000370746.3	+	5	808	c.539A>T	c.(538-540)cAg>cTg	p.Q180L	BEND6_ENST00000545789.1_Missense_Mutation_p.Q82L|BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000370750.2_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	180	BEN.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						GAAAAATGGCAGATTGCCCGT	0.358000													8	32					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52520612	52520612	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:52520612C>T	ENST00000216286.5	-	5	1113	c.1114G>A	c.(1114-1116)Gga>Aga	p.G372R	NID2_ENST00000541773.1_Missense_Mutation_p.G319R	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	372						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CCTACCTCTCCCAGAGATGTT	0.517000													27	133					0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64360259	64360259	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:64360259C>A	ENST00000473690.1	+	0	629				SLC22A12_ENST00000377574.1_Silent_p.L137L|SLC22A12_ENST00000336464.7_Silent_p.L137L|SLC22A12_ENST00000377572.1_Silent_p.L137L|SLC22A12_ENST00000377567.2_Silent_p.L137L	NM_153378.1	NP_700357.1	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12						cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	p.L137L(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						AGTGGAACCTCGTGTGTGACT	0.642000													12	168					4.3838e-07	5.29734e-07	1	1	0
ZXDB	158586	broad.mit.edu	37	X	57619061	57619061	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:57619061G>T	ENST00000374888.1	+	1	793	c.580G>T	c.(580-582)Gcc>Tcc	p.A194S		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCCACCACACGCCTGGGAGCC	0.711000													7	6					5.4927e-09	7.04739e-09	1	1	0
ART3	419	broad.mit.edu	37	4	77003162	77003162	+	Silent	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:77003162T>C	ENST00000355810.4	+	3	374	c.255T>C	c.(253-255)ttT>ttC	p.F85F	ART3_ENST00000513494.1_3'UTR|ART3_ENST00000349321.3_Silent_p.F85F|ART3_ENST00000341029.5_Silent_p.F85F	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	85					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTCAAATCTTTCTCCCTATGA	0.433000													45	136					0	0	1	0	0
WBSCR22	114049	broad.mit.edu	37	7	73101384	73101384	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:73101384G>T	ENST00000265758.2	+	5	379	c.321G>T	c.(319-321)caG>caT	p.Q107H	WBSCR22_ENST00000423166.2_Intron|WBSCR22_ENST00000423497.1_Missense_Mutation_p.Q107H	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	107						nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				ATATGGGCCAGGGCATCCCAT	0.478000													11	119					1.58986e-06	1.87302e-06	1	1	0
C20orf85	128602	broad.mit.edu	37	20	56730593	56730593	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:56730593C>G	ENST00000371168.3	+	3	281	c.220C>G	c.(220-222)Cgg>Ggg	p.R74G		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	74										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			TTTCCGCATCCGGCCGGTGAC	0.438000													17	82					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6986172	6986172	+	Silent	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr18:6986172C>T	ENST00000389658.3	-	37	5436	c.5343G>A	c.(5341-5343)ctG>ctA	p.L1781L		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1781	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCATGAGCAGCAGGTGGTTGC	0.473000													28	174					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2796240	2796240	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:2796240C>G	ENST00000602557.1	-	71	11120	c.10565G>C	c.(10564-10566)gGc>gCc	p.G3522A	CSMD1_ENST00000520002.1_Missense_Mutation_p.G3522A|CSMD1_ENST00000400186.3_Missense_Mutation_p.G3345A|CSMD1_ENST00000542608.1_Missense_Mutation_p.G3344A|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3521A|CSMD1_ENST00000602723.1_Missense_Mutation_p.G3345A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3522						integral to membrane		p.G3521D(1)|p.G3250D(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCAGCATAGCCATTGTATTG	0.418000													6	15					0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127235730	127235730	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:127235730G>T	ENST00000265825.5	+	2	733	c.514G>T	c.(514-516)Gtt>Ttt	p.V172F	FSCN3_ENST00000420086.2_Missense_Mutation_p.V38F	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	172						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GGACGCAGCAGTTCCCTGCCT	0.607000													9	147					3.09899e-07	3.78576e-07	1	1	0
CHRND	1144	broad.mit.edu	37	2	233394803	233394803	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:233394803G>A	ENST00000536614.1	+	6	692	c.664G>A	c.(664-666)Gct>Act	p.A222T	CHRND_ENST00000258385.3_Silent_p.V258V|CHRND_ENST00000457943.2_Intron|CHRND_ENST00000543200.1_Silent_p.V243V			Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	0					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		TGCCCTGCGTGCTCATCTCCT	0.622000													19	181					0	0	1	0	0
FAM134B	54463	broad.mit.edu	37	5	16572213	16572213	+	Splice_Site	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:16572213T>C	ENST00000306320.9	-	2	407		c.e2-2			NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B						sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						GCAAGGAACCTGCAACAGCGA	0.353000													16	112					0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54822913	54822913	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:54822913C>A	ENST00000301219.3	-	5	602	c.483G>T	c.(481-483)caG>caT	p.Q161H	LILRA5_ENST00000346508.3_Missense_Mutation_p.Q149H|LILRA5_ENST00000432233.3_Missense_Mutation_p.Q161H|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Missense_Mutation_p.Q149H	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	161	Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGAGCCACACTGGAGGGTCA	0.567000													43	158					2.24893e-16	3.56713e-16	1	1	0
RELN	5649	broad.mit.edu	37	7	103191726	103191726	+	Silent	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:103191726C>G	ENST00000428762.1	-	41	6249	c.6090G>C	c.(6088-6090)tcG>tcC	p.S2030S	RELN_ENST00000424685.2_Silent_p.S2030S|RELN_ENST00000343529.5_Silent_p.S2030S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2030					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCTATCAGTCGAACAGCCAA	0.488000													13	54					0	0	1	0	0
IGHG2	3501	broad.mit.edu	37	14	106110251	106110251	+	RNA	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:106110251G>A	ENST00000390545.2	-	0	366																											GGTTTTGGGGGGAAGAGGAAG	0.617000													36	214					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166234120	166234120	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:166234120G>A	ENST00000375437.2	+	23	4558	c.4268G>A	c.(4267-4269)gGa>gAa	p.G1423E	SCN2A_ENST00000375427.2_Missense_Mutation_p.G1423E|SCN2A_ENST00000357398.3_Missense_Mutation_p.G1423E|SCN2A_ENST00000283256.6_Missense_Mutation_p.G1423E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1423					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACGTTTAAGGGATGGATGGAT	0.269000													18	177					0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126051098	126051098	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:126051098C>G	ENST00000318410.7	-	25	3407	c.3058G>C	c.(3058-3060)Gct>Cct	p.A1020P	KIAA0196_ENST00000517845.1_Missense_Mutation_p.A872P	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1020					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TGAATGCCAGCTGCCTCCAGA	0.438000													33	227					0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5067974	5067974	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:5067974G>T	ENST00000380370.1	+	1	219	c.219G>T	c.(217-219)ttG>ttT	p.L73F		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTATTGATTTGGCCCTTTCTA	0.493000													30	84					1.39806e-14	2.11963e-14	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185802326	185802326	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:185802326G>T	ENST00000302277.6	+	4	2797	c.2203G>T	c.(2203-2205)Gat>Tat	p.D735Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	735						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTGTAGTCAGGATCACAGAAG	0.333000													15	112					1.3612e-06	1.61428e-06	1	1	0
ARHGEF35	445328	broad.mit.edu	37	7	143884192	143884192	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:143884192C>A	ENST00000378115.2	-	2	1414	c.1285G>T	c.(1285-1287)Gtg>Ttg	p.V429L	ARHGEF35_ENST00000543357.1_Missense_Mutation_p.V429L	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	429										kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						ATCTGAGTCACGAGATATGAG	0.577000													6	42					3.09899e-07	3.78576e-07	1	1	0
ZNF431	170959	broad.mit.edu	37	19	21366545	21366545	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:21366545G>C	ENST00000311048.7	+	5	1583	c.1439G>C	c.(1438-1440)gGa>gCa	p.G480A	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						ATTCACACTGGAGAGAAACCC	0.348000													7	94					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119583250	119583250	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:119583250G>C	ENST00000267260.4	+	9	1224	c.836G>C	c.(835-837)cGa>cCa	p.R279P		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	279	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ACCACCTCGCGAGGACGTTCC	0.612000													11	12					0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	60073539	60073539	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:60073539G>T	ENST00000371218.4	+	9	1152	c.968G>T	c.(967-969)gGg>gTg	p.G323V	FGGY_ENST00000303721.7_Missense_Mutation_p.G323V|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Missense_Mutation_p.G235V|FGGY_ENST00000371210.1_Missense_Mutation_p.G24V	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	323					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					ATGGTACCTGGGTTCTGGCTG	0.423000													6	90					0.00116845	0.00122611	1	1	0
TM2D3	80213	broad.mit.edu	37	15	102182765	102182765	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:102182765C>A	ENST00000561373.1	-	4	1022	c.466G>T	c.(466-468)Ggc>Tgc	p.G156C	TM2D3_ENST00000347970.3_Missense_Mutation_p.G195C|TM2D3_ENST00000333202.3_Missense_Mutation_p.G221C|TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000559107.1_Intron			Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	221						integral to membrane				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATTCCCAGGCCACCGAAGCTG	0.557000													7	92					0.00198382	0.00207199	1	1	0
SLITRK1	114798	broad.mit.edu	37	13	84453908	84453908	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr13:84453908G>T	ENST00000377084.2	-	1	2620	c.1735C>A	c.(1735-1737)Cct>Act	p.P579T		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	579	LRRCT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TACAGCTGAGGGCAGATCTCG	0.537000													15	46					3.27435e-08	4.11251e-08	1	1	0
KIAA1429	25962	broad.mit.edu	37	8	95547223	95547223	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:95547223C>A	ENST00000297591.5	-	5	403	c.328G>T	c.(328-330)Ggt>Tgt	p.G110C	KIAA1429_ENST00000421249.2_Missense_Mutation_p.G110C|KIAA1429_ENST00000437199.1_Missense_Mutation_p.G110C	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	110					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AGCACCAGACCATCAGTATTC	0.408000													24	133					1.33986e-20	2.30539e-20	1	1	0
PALM	5064	broad.mit.edu	37	19	746420	746420	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:746420G>T	ENST00000264560.7	+	8	832	c.638G>T	c.(637-639)cGg>cTg	p.R213L	PALM_ENST00000338448.5_Missense_Mutation_p.R257L|PALM_ENST00000606643.1_3'UTR	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	257					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		GCAGAGACCCGGGGGGCTGTG	0.731000													16	21					6.31663e-08	7.88916e-08	1	1	0
SGK223	157285	broad.mit.edu	37	8	8175844	8175844	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:8175844C>A	ENST00000520004.1	-	6	4305	c.4041G>T	c.(4039-4041)ctG>ctT	p.L1347L	SGK223_ENST00000330777.4_Silent_p.L1347L			Q86YV5	SG223_HUMAN		1347							ATP binding|non-membrane spanning protein tyrosine kinase activity										TCCAGTTGTGCAGCGTGCCGC	0.677000													41	120					1.76056e-25	3.21509e-25	1	1	0
PRKCG	5582	broad.mit.edu	37	19	54403907	54403907	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:54403907C>A	ENST00000263431.3	+	14	1761	c.1479C>A	c.(1477-1479)caC>caA	p.H493Q	PRKCG_ENST00000542049.1_Missense_Mutation_p.H380Q|PRKCG_ENST00000540413.1_Missense_Mutation_p.H493Q	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	493	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CTGAGGGACACATCAAGATCA	0.557000													35	537					1.21669e-08	1.54773e-08	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274194	39274194	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:39274194C>A	ENST00000391413.2	-	1	412	c.374G>T	c.(373-375)tGc>tTc	p.C125F		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	125	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			cacagactggcagcactgggg	0.662000													7	88					0.000157383	0.000170769	1	1	0
TNKS2	80351	broad.mit.edu	37	10	93596719	93596719	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:93596719G>T	ENST00000371627.4	+	13	1870	c.1491G>T	c.(1489-1491)ctG>ctT	p.L497L		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	497					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GACAATTGCTGGAAGCTGCAA	0.373000													7	68					0.0381472	0.0388432	1	1	0
CACNA1H	8912	broad.mit.edu	37	16	1260936	1260936	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:1260936C>A	ENST00000348261.5	+	21	4436	c.4188C>A	c.(4186-4188)cgC>cgA	p.R1396R	CACNA1H_ENST00000565831.1_Silent_p.R1396R|CACNA1H_ENST00000358590.4_Silent_p.R1396R	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1396					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GTGTTCTGCGCGTGCTGCGTC	0.687000													48	167					4.44712e-29	8.29077e-29	1	1	0
SLC17A5	26503	broad.mit.edu	37	6	74325056	74325056	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:74325056T>A	ENST00000355773.5	-	8	1361	c.1093A>T	c.(1093-1095)Aga>Tga	p.R365*	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	365					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTAAAAATTCTGCGAACACAT	0.348000													21	80					0	0	1	0	0
SLC12A1	6557	broad.mit.edu	37	15	48577389	48577389	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:48577389C>A	ENST00000396577.3	+	21	2787	c.2572C>A	c.(2572-2574)Cga>Aga	p.R858R	SLC12A1_ENST00000558405.1_Silent_p.R858R|SLC12A1_ENST00000380993.3_Silent_p.R858R	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	858					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGGAGGCATCCGAGGCTTGTT	0.363000													15	171					1.49906e-05	1.69023e-05	1	1	0
SMO	6608	broad.mit.edu	37	7	128846363	128846363	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:128846363G>T	ENST00000249373.3	+	6	1479	c.1199G>T	c.(1198-1200)cGt>cTt	p.R400L		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	400					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TACCGATACCGTGCGGGCTTC	0.597000			Mis		skin basal cell								61	291					6.75472e-32	1.28067e-31	1	1	0
DNAH3	55567	broad.mit.edu	37	16	20996456	20996456	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:20996456G>T	ENST00000261383.3	-	48	7607	c.7608C>A	c.(7606-7608)acC>acA	p.T2536T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2536	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCTCTCCTTGGGTCCTGGCTG	0.463000													17	80					2.23348e-06	2.61403e-06	1	1	0
TTC26	79989	broad.mit.edu	37	7	138863263	138863263	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:138863263T>A	ENST00000464848.1	+	14	1241	c.1161T>A	c.(1159-1161)agT>agA	p.S387R	TTC26_ENST00000430935.1_Missense_Mutation_p.S387R|TTC26_ENST00000478836.2_Missense_Mutation_p.S280R|TTC26_ENST00000495038.1_Missense_Mutation_p.S256R|TTC26_ENST00000343187.4_Missense_Mutation_p.S356R			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	387							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TTTTTCAGAGTTACTTCTATA	0.368000													11	100					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31391306	31391306	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:31391306C>T	ENST00000268296.4	+	26	3101	c.2980C>T	c.(2980-2982)Cca>Tca	p.P994S	ITGAX_ENST00000562522.1_Missense_Mutation_p.P994S	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	994					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						CCCCCAGAACCCATCCCTTCG	0.572000													11	50					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80790150	80790150	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:80790150G>A	ENST00000269394.3	-	2	1014	c.181C>T	c.(181-183)Cga>Tga	p.R61*	TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	61						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TTGGGAACTCGATCCTGCTCT	0.448000													35	199					0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29555968	29555968	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:29555968C>T	ENST00000383640.2	+	1	286	c.247C>T	c.(247-249)Ctc>Ttc	p.L83F	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	83					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GCTGGTCAACCTCTGGGGCCC	0.522000													30	138					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11562027	11562027	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:11562027G>T	ENST00000294484.6	+	2	1116	c.978G>T	c.(976-978)ccG>ccT	p.P326P	PTCHD2_ENST00000389575.3_Silent_p.P326P	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	326					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGGATCTGCCGCTGGGCTCCT	0.612000													7	71					8.12818e-05	8.95002e-05	1	1	0
DDX3X	1654	broad.mit.edu	37	X	41203611	41203611	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:41203611G>A	ENST00000399959.2	+	10	1839	c.984G>A	c.(982-984)gtG>gtA	p.V328V	DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Silent_p.V312V	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	328	Helicase ATP-binding.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GACGTCTAGTGGATATGATGG	0.383000										HNSCC(61;0.18)			98	134					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161027524	161027524	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:161027524C>A	ENST00000447678.1	-	18	2890	c.2770G>T	c.(2770-2772)Gct>Tct	p.A924S	LPA_ENST00000316300.5_Missense_Mutation_p.A924S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3432	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCAGAAGGAGCCTCTAGGCTT	0.542000													41	182					7.53189e-24	1.35332e-23	1	1	0
KLHL3	26249	broad.mit.edu	37	5	136972995	136972995	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:136972995C>A	ENST00000508657.1	-	11	1927	c.1213G>T	c.(1213-1215)Ggc>Tgc	p.G405C	KLHL3_ENST00000506491.1_Missense_Mutation_p.G355C|KLHL3_ENST00000506873.1_Intron|KLHL3_ENST00000541417.1_Intron|KLHL3_ENST00000309755.4_Missense_Mutation_p.G437C	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	437						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TCCACAACGCCCACACCCACA	0.622000													16	51					1.15088e-07	1.41756e-07	1	1	0
EBF3	253738	broad.mit.edu	37	10	131755569	131755569	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:131755569A>T	ENST00000368648.3	-	6	579	c.507T>A	c.(505-507)agT>agA	p.S169R	EBF3_ENST00000355311.5_Missense_Mutation_p.S169R	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	169					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TATTGCCACAACTTTTCTTGT	0.393000													25	130					0	0	1	0	0
CCDC163P	126661	broad.mit.edu	37	1	45965225	45965225	+	Silent	SNP	A	A	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:45965225A>G	ENST00000490551.3	-	1	421	c.57T>C	c.(55-57)gaT>gaC	p.D19D	CCDC163P_ENST00000432082.1_Silent_p.D19D|CCDC163P_ENST00000488405.2_Silent_p.D19D																cervix(1)|endometrium(1)	2						CCACATTTCCATCAGTAGCGT	0.562000													4	19					0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72469720	72469720	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:72469720G>T	ENST00000360141.3	+	2	374	c.86G>T	c.(85-87)gGg>gTg	p.G29V	CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000392625.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	29	Ig-like V-type.			VG -> W (in Ref. 3; AAD01646 and 4; AAF89957).	cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GGCCCCGTGGGGGGATCCCTG	0.547000													36	186					1.90571e-15	2.95451e-15	1	1	0
TSGA10	80705	broad.mit.edu	37	2	99721875	99721875	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:99721875C>A	ENST00000393483.3	-	9	1250	c.406G>T	c.(406-408)Gag>Tag	p.E136*	TSGA10_ENST00000355053.4_Nonsense_Mutation_p.E136*|TSGA10_ENST00000539964.1_Nonsense_Mutation_p.E136*|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000410001.1_Nonsense_Mutation_p.E136*|TSGA10_ENST00000542655.1_Nonsense_Mutation_p.E136*	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	136					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TGAGCCTTCTCATTAAATGCT	0.313000													30	169					3.99451e-17	6.5093e-17	1	1	0
TAF15	8148	broad.mit.edu	37	17	34165556	34165556	+	Splice_Site	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:34165556T>A	ENST00000588240.1	+	11	1027	c.913_splice	c.e11+1	p.D304_splice	TAF15_ENST00000592237.1_Splice_Site_p.D213_splice|TAF15_ENST00000311979.3_Splice_Site_p.D301_splice	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	304	RRM.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ACTGGTTTGATGGTATGCCTC	0.408000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""								34	157					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157665128	157665128	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:157665128T>C	ENST00000368184.3	-	8	1693	c.1402A>G	c.(1402-1404)Agg>Ggg	p.R468G	FCRL3_ENST00000368186.5_Missense_Mutation_p.R468G|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	468	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CCTGTGACCCTGAGACTCACT	0.488000													21	282					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287396	16287396	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr22:16287396C>A	ENST00000343518.6	-	1	541	c.490G>T	c.(490-492)Gct>Tct	p.A164S		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	164										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCATGAAAGCGCTGTCGTCG	0.587000													57	971					2.64894e-19	4.50572e-19	1	1	0
MAP3K7CL	56911	broad.mit.edu	37	21	30521560	30521560	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr21:30521560C>T	ENST00000399935.2	+	8	788	c.121C>T	c.(121-123)Cag>Tag	p.Q41*	MAP3K7CL_ENST00000399925.1_Nonsense_Mutation_p.Q41*|MAP3K7CL_ENST00000339024.4_Nonsense_Mutation_p.Q41*|MAP3K7CL_ENST00000545939.1_Nonsense_Mutation_p.Q35*|MAP3K7CL_ENST00000341618.4_Nonsense_Mutation_p.Q141*|MAP3K7CL_ENST00000399926.1_Nonsense_Mutation_p.Q41*|MAP3K7CL_ENST00000399928.1_Nonsense_Mutation_p.Q41*|MAP3K7CL_ENST00000399947.2_Nonsense_Mutation_p.Q141*|MAP3K7CL_ENST00000399934.1_Nonsense_Mutation_p.Q41*|MAP3K7CL_ENST00000286791.5_3'UTR					MAP3K7 C-terminal like																		AGAATTAGACCAGCAGCTACA	0.428000													20	147					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101597206	101597206	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:101597206G>T	ENST00000284395.5	+	29	4869	c.4469G>T	c.(4468-4470)cGg>cTg	p.R1490L	LRRK1_ENST00000388948.3_Missense_Mutation_p.R1493L|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1493	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGCAGTTCCGGCGACTGCAG	0.637000													18	129					1.99824e-07	2.45789e-07	1	1	0
IGFN1	91156	broad.mit.edu	37	1	201196071	201196071	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:201196071C>A	ENST00000335211.4	+	23	10978	c.10848C>A	c.(10846-10848)ttC>ttA	p.F3616L	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGCCCCGGTTCCTGGTGGGCC	0.662000													46	167					1.7489e-18	2.9192e-18	1	1	0
MAP3K19	80122	broad.mit.edu	37	2	135738449	135738449	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:135738449G>T	ENST00000375845.3	-	9	3892	c.3862C>A	c.(3862-3864)Cct>Act	p.P1288T	MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392917.3_Missense_Mutation_p.P420T|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P1175T|MAP3K19_ENST00000375844.3_Missense_Mutation_p.P470T|MAP3K19_ENST00000315513.3_Missense_Mutation_p.P149T|MAP3K19_ENST00000392918.3_Missense_Mutation_p.P422T	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		TCTGGTAAAGGAGGCATCAGC	0.517000													8	87					0.00448238	0.00465438	1	1	0
SLIT2	9353	broad.mit.edu	37	4	20482365	20482365	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:20482365G>T	ENST00000504154.1	+	6	746	c.494G>T	c.(493-495)tGt>tTt	p.C165F	SLIT2_ENST00000503823.1_Missense_Mutation_p.C165F|SLIT2_ENST00000503837.1_Missense_Mutation_p.C165F|SLIT2_ENST00000273739.5_Missense_Mutation_p.C165F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	165					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CAGATCAGCTGTATTGAAGAT	0.458000													135	141					4.23873e-62	8.46799e-62	1	1	0
KCTD3	51133	broad.mit.edu	37	1	215759965	215759965	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:215759965G>T	ENST00000259154.4	+	9	1048	c.754G>T	c.(754-756)Gtt>Ttt	p.V252F		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	252						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)		AATGGTTGCTGTTGCCTCAGA	0.428000													20	281					3.51602e-12	4.98381e-12	1	1	0
LAMC3	10319	broad.mit.edu	37	9	133932494	133932494	+	Silent	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr9:133932494C>T	ENST00000361069.4	+	12	2251	c.2118C>T	c.(2116-2118)ccC>ccT	p.P706P	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	706	Laminin EGF-like 5; second part.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GCTGTGTCCCCTGCACCTGTA	0.592000													40	110					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7574000	7574000	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:7574000C>A	ENST00000269305.4	-	10	1216	c.1027G>T	c.(1027-1029)Gag>Tag	p.E343*	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E343*|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR	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	343	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		E -> G (in sporadic cancers; 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.E343*(8)|p.0?(8)|p.R342_N345delRELN(1)|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)		TCATTCAGCTCTCGGAACATC	0.567000		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)			14	27					0.00244969	0.0025526	1	1	0
VN1R2	317701	broad.mit.edu	37	19	53762338	53762338	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:53762338A>T	ENST00000341702.3	+	1	794	c.710A>T	c.(709-711)aAc>aTc	p.N237I		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	237					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AAATGGAGCAACAACAACATC	0.423000													45	173					0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809159	5809159	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:5809159C>A	ENST00000317078.1	-	1	887	c.888G>T	c.(886-888)ggG>ggT	p.G296G	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TGGTTTTCACCCCATACACAA	0.393000													66	217					8.52622e-23	1.5107e-22	1	1	0
CPA4	51200	broad.mit.edu	37	7	129940699	129940699	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:129940699G>T	ENST00000222482.4	+	4	357	c.329G>T	c.(328-330)gGg>gTg	p.G110V	CPA4_ENST00000445470.2_Intron|CPA4_ENST00000493259.1_Missense_Mutation_p.G6V	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	110					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					CACAATGAAGGGCAAGAACGG	0.438000													5	69					0.184627	0.186296	1	1	0
PHF3	23469	broad.mit.edu	37	6	64410279	64410279	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:64410279G>C	ENST00000262043.3	+	9	3362	c.3022G>C	c.(3022-3024)Gat>Cat	p.D1008H	PHF3_ENST00000393387.1_Missense_Mutation_p.D1008H			Q92576	PHF3_HUMAN	PHD finger protein 3	1008	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGTAACTCCTGATCATCTTAT	0.343000													22	78					0	0	1	0	0
GPR174	84636	broad.mit.edu	37	X	78427054	78427054	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:78427054G>T	ENST00000276077.1	+	1	586	c.550G>T	c.(550-552)Gtt>Ttt	p.V184F		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	184						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CCAGTCCGTTGTTATGATGAC	0.448000										HNSCC(63;0.18)			65	76					7.92265e-33	1.50851e-32	1	1	0
C2orf16	84226	broad.mit.edu	37	2	27803384	27803384	+	Silent	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:27803384T>A	ENST00000408964.2	+	1	3996	c.3945T>A	c.(3943-3945)tcT>tcA	p.S1315S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1315										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGAGTCCTTCTAGGGAATTAG	0.403000													39	115					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43538386	43538386	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:43538386C>A	ENST00000265351.7	-	5	684	c.474G>T	c.(472-474)ttG>ttT	p.L158F		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	158					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CTGCCAGTCGCAAAAGGATAA	0.373000													31	116					5.45727e-16	8.61014e-16	1	1	0
RPH3A	22895	broad.mit.edu	37	12	113325608	113325608	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:113325608C>A	ENST00000389385.4	+	17	1940	c.1443C>A	c.(1441-1443)tcC>tcA	p.S481S	RPH3A_ENST00000420983.2_Silent_p.S481S|RPH3A_ENST00000551052.1_Silent_p.S477S|RPH3A_ENST00000548866.1_Silent_p.S432S|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Silent_p.S481S|RPH3A_ENST00000447659.2_Silent_p.S432S|RPH3A_ENST00000415485.3_Silent_p.S481S	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	481	C2 1.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GCAGGATCTCCGTCTGTGATG	0.448000													103	219					7.59261e-44	1.49344e-43	1	1	0
TEP1	7011	broad.mit.edu	37	14	20873650	20873650	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:20873650C>A	ENST00000262715.5	-	4	870	c.830G>T	c.(829-831)tGt>tTt	p.C277F	TEP1_ENST00000556935.1_Missense_Mutation_p.C277F	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	277	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AAGTTCACGACAGATTTCAAA	0.502000													14	108					0.000151284	0.000164954	1	1	0
TRPM6	140803	broad.mit.edu	37	9	77354766	77354766	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr9:77354766C>T	ENST00000451710.3	-	33	5609	c.5372G>A	c.(5371-5373)aGc>aAc	p.S1791N	TRPM6_ENST00000360774.1_Missense_Mutation_p.S1787N|TRPM6_ENST00000361255.3_Missense_Mutation_p.S1782N|TRPM6_ENST00000376871.3_Missense_Mutation_p.S624N|TRPM6_ENST00000449912.2_Missense_Mutation_p.S1782N|TRPM6_ENST00000376864.4_Missense_Mutation_p.S1791N|TRPM6_ENST00000376872.3_Missense_Mutation_p.S742N			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1787	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGACCAAGTGCTGACGACTCT	0.517000													24	149					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9371233	9371233	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:9371233C>A	ENST00000378501.2	+	14	1309	c.1294C>A	c.(1294-1296)Ctg>Atg	p.L432M	PLCB4_ENST00000378493.1_Missense_Mutation_p.L432M|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.L432M|PLCB4_ENST00000334005.3_Missense_Mutation_p.L432M|PLCB4_ENST00000278655.4_Missense_Mutation_p.L432M|PLCB4_ENST00000414679.2_Missense_Mutation_p.L432M	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	432	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGGGGATCTCCTGTTGAAACA	0.338000													7	69					0.0381472	0.0388432	1	1	0
EXOC5	10640	broad.mit.edu	37	14	57684779	57684779	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:57684779G>A	ENST00000413566.2	-	15	1893	c.1534C>T	c.(1534-1536)Cct>Tct	p.P512S	EXOC5_ENST00000340918.7_Missense_Mutation_p.P447S	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	512					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						GATAACTTAGGAGAAGAGCTA	0.279000													11	67					0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100821599	100821599	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:100821599C>A	ENST00000268070.4	-	4	729	c.624G>T	c.(622-624)aaG>aaT	p.K208N		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	208					proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ACGTCGGCTTCTTCTTTTCTA	0.587000													5	32					3.59834e-05	4.02167e-05	1	1	0
BMP6	654	broad.mit.edu	37	6	7861712	7861712	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:7861712C>A	ENST00000283147.6	+	3	1045	c.886C>A	c.(886-888)Cgt>Agt	p.R296S		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	296					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	p.R296S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GTTGGACACCCGTGTAGTATG	0.498000													28	234					9.39395e-14	1.39349e-13	1	1	0
AARS	16	broad.mit.edu	37	16	70305789	70305789	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:70305789T>A	ENST00000261772.8	-	5	709	c.566A>T	c.(565-567)gAg>gTg	p.E189V		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	189					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GTAGTGGATCTCACTGCAAGG	0.537000													9	148					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129171501	129171501	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:129171501G>T	ENST00000540052.1	+	8	4509	c.4465G>T	c.(4465-4467)Ggc>Tgc	p.G1489C	BCORL1_ENST00000218147.7_Missense_Mutation_p.G1489C|BCORL1_ENST00000359304.2_Missense_Mutation_p.G1359C|BCORL1_ENST00000303743.5_Missense_Mutation_p.G1563C	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1489					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						TGCGCAGGACGGCACGAGGCA	0.647000													29	54					1.08312e-15	1.68506e-15	1	1	0
CAPN3	825	broad.mit.edu	37	15	42682219	42682219	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:42682219G>T	ENST00000397163.3	+	6	1089	c.870G>T	c.(868-870)atG>atT	p.M290I	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Missense_Mutation_p.M203I|CAPN3_ENST00000357568.3_Missense_Mutation_p.M290I|CAPN3_ENST00000349748.3_Intron|CAPN3_ENST00000318023.7_Missense_Mutation_p.M290I	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	290	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TTGCACGGATGGTAAGGAATA	0.522000													9	125					2.17888e-05	2.44133e-05	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113697949	113697949	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:113697949G>C	ENST00000297405.5	-	15	2412	c.2168C>G	c.(2167-2169)tCt>tGt	p.S723C	CSMD3_ENST00000455883.2_Missense_Mutation_p.S619C|CSMD3_ENST00000343508.3_Missense_Mutation_p.S683C|CSMD3_ENST00000352409.3_Missense_Mutation_p.S723C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	723	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTAAAGTTAGACAGGCAGGG	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			88	163					0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206230901	206230901	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:206230901T>A	ENST00000367126.4	+	2	1499	c.1034T>A	c.(1033-1035)cTg>cAg	p.L345Q		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	345					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	AACAGCCACCTGTTACCGCGG	0.622000													4	46					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34204793	34204793	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:34204793G>T	ENST00000373381.4	-	15	2492	c.2316C>A	c.(2314-2316)tgC>tgA	p.C772*		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	732	CUB 5.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTTCAGGACGCAGGTGATGG	0.612000													5	63					0.000602214	0.00063945	1	1	0
ZNF671	79891	broad.mit.edu	37	19	58231920	58231920	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:58231920A>T	ENST00000317398.6	-	4	1629	c.1534T>A	c.(1534-1536)Tgc>Agc	p.C512S	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Missense_Mutation_p.C414S	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCTCTCCCGCACTCACTACAC	0.488000													144	459					0	0	1	0	0
PLEKHB2	55041	broad.mit.edu	37	2	132110660	132110660	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:132110660C>A	ENST00000404460.1	+	7	545	c.491C>A	c.(490-492)aCg>aAg	p.T164K	PLEKHB2_ENST00000303908.3_Missense_Mutation_p.T164K			Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	0						membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		GTTCTCCCAACGCGATGTTTT	0.443000													10	44					2.27111e-07	2.78203e-07	1	1	0
ABCA1	19	broad.mit.edu	37	9	107583765	107583765	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr9:107583765G>A	ENST00000374736.3	-	20	3245	c.2851C>T	c.(2851-2853)Ccc>Tcc	p.P951S		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	951	ABC transporter 1.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GAGGTCGGGGGGAACAACCCG	0.537000													5	65					0	0	1	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958230	57958230	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:57958230A>T	ENST00000311591.3	+	1	325	c.268A>T	c.(268-270)Aca>Tca	p.T90S		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GGAGCACGGCACAACCATCTC	0.567000													16	178					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55481432	55481432	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:55481432C>G	ENST00000543010.1	+	2	192	c.49C>G	c.(49-51)Cag>Gag	p.Q17E	NLRP2_ENST00000448584.2_Missense_Mutation_p.Q17E|NLRP2_ENST00000537859.1_Missense_Mutation_p.Q17E|NLRP2_ENST00000391721.4_Missense_Mutation_p.Q17E|NLRP2_ENST00000427260.2_Missense_Mutation_p.Q17E|NLRP2_ENST00000263437.6_Missense_Mutation_p.Q17E|NLRP2_ENST00000339757.7_Missense_Mutation_p.Q17E|NLRP2_ENST00000538819.1_Missense_Mutation_p.Q17E	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	17	DAPIN.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TCTCCTGGAGCAGCTCAGCCA	0.562000													23	165					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60773403	60773403	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:60773403C>G	ENST00000335712.6	-	2	315	c.88G>C	c.(88-90)Gaa>Caa	p.E30Q	BCL11A_ENST00000538214.1_Missense_Mutation_p.E30Q|BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000359629.5_Missense_Mutation_p.E30Q|BCL11A_ENST00000358510.4_Missense_Mutation_p.E30Q|BCL11A_ENST00000356842.4_Missense_Mutation_p.E30Q	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	30	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGGTCTGGTTCATCATCTGTA	0.507000			T	IGH@	B-CLL								19	98					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204589089	204589089	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:204589089G>A	ENST00000367175.1	-	1	2244	c.32C>T	c.(31-33)gCt>gTt	p.A11V	LRRN2_ENST00000496057.1_5'UTR|LRRN2_ENST00000367176.3_Missense_Mutation_p.A11V|LRRN2_ENST00000367177.3_Missense_Mutation_p.A11V			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	11					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGCCACCCAAGCTAGCAAGAG	0.632000													4	27					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92346130	92346130	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr13:92346130G>T	ENST00000377067.3	+	3	1387	c.1015G>T	c.(1015-1017)Gaa>Taa	p.E339*		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	339						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AAAATTATTGGAACAGGTAAG	0.383000													20	62					1.15919e-05	1.31365e-05	1	1	0
LEPR	3953	broad.mit.edu	37	1	66075902	66075902	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:66075902A>G	ENST00000349533.6	+	14	2103	c.1918A>G	c.(1918-1920)Atg>Gtg	p.M640V	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.M640V|LEPR_ENST00000371060.3_Missense_Mutation_p.M640V|LEPR_ENST00000371059.3_Missense_Mutation_p.M640V|LEPR_ENST00000344610.8_Missense_Mutation_p.M640V|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	640	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGCAGTTCCTATGAGAGGACC	0.299000													24	118					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123594289	123594289	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:123594289C>A	ENST00000340011.5	+	3	1022	c.665C>A	c.(664-666)cCg>cAg	p.P222Q	SPAM1_ENST00000460182.1_Missense_Mutation_p.P222Q|SPAM1_ENST00000402183.2_Missense_Mutation_p.P222Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.P222Q|SPAM1_ENST00000439500.1_Missense_Mutation_p.P222Q	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	222					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	p.P222L(2)		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)	TATCTTTTTCCGGATTGTTAC	0.363000													31	200					1.08312e-15	1.68506e-15	1	1	0
ESRRB	2103	broad.mit.edu	37	14	76928949	76928949	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:76928949G>A	ENST00000380887.2	+	3	531	c.459G>A	c.(457-459)aaG>aaA	p.K153K	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Silent_p.K153K|ESRRB_ENST00000509242.1_Silent_p.K153K|ESRRB_ENST00000556177.1_Silent_p.K153K			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	153						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GGAGGCGCAAGTCCTGCCAGG	0.602000													31	185					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133234016	133234016	+	Splice_Site	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:133234016C>A	ENST00000320574.5	-	28	3422		c.e28-1		POLE_ENST00000535270.1_Splice_Site	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit						base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AATCCAGAATCTGCATGTGCA	0.567000								DNA polymerases (catalytic subunits)					21	35					3.51602e-12	4.98381e-12	1	1	0
EPAS1	2034	broad.mit.edu	37	2	46574050	46574050	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:46574050C>T	ENST00000263734.3	+	2	575	c.65C>T	c.(64-66)gCt>gTt	p.A22V	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	22					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TCCCGGGATGCTGCGCGGTGC	0.602000													21	91					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282997	152282997	+	Silent	SNP	G	G	A	rs142950612		TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:152282997G>A	ENST00000368799.1	-	3	4400	c.4365C>T	c.(4363-4365)caC>caT	p.H1455H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1455	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)			CAGTCTGTCCGTGTGTGGACT	0.572000									Ichthyosis				55	552					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901239	51901239	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:51901239T>A	ENST00000268919.4	+	1	1001	c.845T>A	c.(844-846)tTc>tAc	p.F282Y		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	282	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTGTACCAGTTCACCGCCCAG	0.572000													27	133					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90501058	90501058	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr9:90501058C>A	ENST00000325643.5	+	4	1722	c.1656C>A	c.(1654-1656)tcC>tcA	p.S552S		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		ACCCTACATCCCAGGAGAGGA	0.572000													40	219					3.09479e-21	5.34554e-21	1	1	0
ANK2	287	broad.mit.edu	37	4	114257807	114257807	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:114257807G>T	ENST00000357077.4	+	31	3719	c.3666G>T	c.(3664-3666)ttG>ttT	p.L1222F	ANK2_ENST00000509550.1_Missense_Mutation_p.L398F|ANK2_ENST00000394537.3_Missense_Mutation_p.L1222F|ANK2_ENST00000506722.1_Missense_Mutation_p.L1213F|ANK2_ENST00000504887.1_3'UTR|ANK2_ENST00000264366.6_Missense_Mutation_p.L1189F	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1189					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)		TAGTCACTTTGGAACCTAGAA	0.423000													19	108					8.34094e-07	9.97116e-07	1	1	0
SLITRK5	26050	broad.mit.edu	37	13	88328732	88328732	+	Silent	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr13:88328732C>T	ENST00000325089.6	+	2	1308	c.1089C>T	c.(1087-1089)gcC>gcT	p.A363A	SLITRK5_ENST00000400028.3_Silent_p.A122A	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	363						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCAGCATCGCCTATCAGACCA	0.607000													24	85					0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62547784	62547784	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:62547784G>T	ENST00000430451.2	+	4	1423	c.1226G>T	c.(1225-1227)gGg>gTg	p.G409V	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	409	C2 1.							p.G389V(1)|p.G409V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ATACAGAGAGGGCCCAACCCC	0.592000													8	39					0.0381472	0.0388432	1	1	0
ZNF224	7767	broad.mit.edu	37	19	44604975	44604975	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:44604975G>C	ENST00000336976.6	+	4	291	c.37G>C	c.(37-39)Gtg>Ctg	p.V13L		NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	13	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				CTTCAAGGACGTGGCTGTGGT	0.527000													32	282					0	0	1	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399441	89399441	+	RNA	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:89399441C>A	ENST00000479981.1	-	0	288																											GTCCCAGATCCACTGCCGCTG	0.483000													41	332					5.20837e-25	9.47266e-25	1	1	0
PIK3CG	5294	broad.mit.edu	37	7	106508129	106508129	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:106508129G>T	ENST00000359195.3	+	2	433	c.123G>T	c.(121-123)gaG>gaT	p.E41D	PIK3CG_ENST00000440650.2_Missense_Mutation_p.E41D|PIK3CG_ENST00000496166.1_Missense_Mutation_p.E41D	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	41					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCCCCATCGAGTTCGTGCTGC	0.662000													38	105					2.19358e-23	3.90991e-23	1	1	0
KIAA1009	22832	broad.mit.edu	37	6	84865082	84865082	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:84865082C>A	ENST00000403245.3	-	22	3043	c.2929G>T	c.(2929-2931)Gag>Tag	p.E977*	KIAA1009_ENST00000257766.4_Nonsense_Mutation_p.E901*|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	977					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCTTTGCCCTCCAGATCAGCT	0.398000													15	75					2.32078e-09	3.01668e-09	1	1	0
ZSWIM2	151112	broad.mit.edu	37	2	187694457	187694457	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:187694457G>T	ENST00000295131.2	-	8	1131	c.1092C>A	c.(1090-1092)caC>caA	p.H364Q		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	364					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CTTTTACCTTGTGAGTACATG	0.373000													22	165					1.50039e-11	2.06767e-11	1	1	0
TRPV6	55503	broad.mit.edu	37	7	142570162	142570162	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:142570162C>A	ENST00000359396.3	-	14	2103	c.1858G>T	c.(1858-1860)Gga>Tga	p.G620*		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	620					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TACTCCCGTCCGCAGATCCCG	0.627000													4	37					0.00024832	0.000266526	1	1	0
EPPK1	83481	broad.mit.edu	37	8	144942032	144942032	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:144942032C>G	ENST00000525985.1	-	2	5461	c.5390G>C	c.(5389-5391)tGg>tCg	p.W1797S				P58107	EPIPL_HUMAN	epiplakin 1	1797						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCAGGTCCCAGAAAGAGAC	0.537000													29	158					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48162529	48162529	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:48162529G>A	ENST00000311303.3	-	9	1701	c.1356C>T	c.(1354-1356)acC>acT	p.T452T	ABCC12_ENST00000416054.1_Silent_p.T452T|ABCC12_ENST00000448542.1_Silent_p.T452T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	452						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATTTCTTTGGGGTACTTTTCC	0.507000													24	164					0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107380248	107380248	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr9:107380248A>G	ENST00000259362.1	-	1	237	c.238T>C	c.(238-240)Tcc>Ccc	p.S80P		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						ACTAGTGTGGAGGGAATAGAG	0.488000													72	202					0	0	1	0	0
RHBDL2	54933	broad.mit.edu	37	1	39384668	39384668	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:39384668C>A	ENST00000289248.2	-	2	1225	c.217G>T	c.(217-219)Gtg>Ttg	p.V73L	RHBDL2_ENST00000538156.1_Missense_Mutation_p.V140L|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372990.1_Missense_Mutation_p.V73L|RHBDL2_ENST00000540558.1_Missense_Mutation_p.V73L|RHBDL2_ENST00000372985.3_Missense_Mutation_p.V153L			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	73					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			ATGATGAACACGGGAGGCGGG	0.562000													19	151					1.15919e-05	1.31365e-05	1	1	0
WSCD2	9671	broad.mit.edu	37	12	108618551	108618551	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:108618551C>A	ENST00000332082.4	+	6	1536	c.718C>A	c.(718-720)Ccc>Acc	p.P240T	WSCD2_ENST00000261400.3_Missense_Mutation_p.P240T|WSCD2_ENST00000547525.1_Missense_Mutation_p.P240T|WSCD2_ENST00000549903.1_Missense_Mutation_p.P240T			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	240	WSC 2.					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						CTTCCGCAGGCCCGACAACCT	0.537000													10	171					7.48243e-07	8.99301e-07	1	1	0
NCAM1	4684	broad.mit.edu	37	11	113141053	113141053	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:113141053C>A	ENST00000316851.7	+	16	2245	c.2245C>A	c.(2245-2247)Ctg>Atg	p.L749M	NCAM1-AS1_ENST00000526229.1_RNA|NCAM1-AS1_ENST00000533638.1_RNA|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	759					axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGCGGTCAACCTGTGTGGAAA	0.592000													11	161					1.58986e-06	1.87302e-06	1	1	0
SCN11A	11280	broad.mit.edu	37	3	38888598	38888598	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:38888598C>A	ENST00000450244.1	-	26	5161	c.4963G>T	c.(4963-4965)Gag>Tag	p.E1655*	SCN11A_ENST00000302328.3_Nonsense_Mutation_p.E1655*|SCN11A_ENST00000456224.3_Nonsense_Mutation_p.E1617*			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1655					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CGCAAAGGCTCAGGCAAGGCA	0.413000													57	220					3.21867e-24	5.80662e-24	1	1	0
FRG1B	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T														p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343000													15	188					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147967504	147967504	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:147967504G>T	ENST00000370460.2	+	8	1827	c.1348G>T	c.(1348-1350)Gag>Tag	p.E450*	AFF2_ENST00000370458.1_Nonsense_Mutation_p.E411*|AFF2_ENST00000286437.5_Nonsense_Mutation_p.E91*|AFF2_ENST00000342251.3_Nonsense_Mutation_p.E417*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.E417*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	450					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CACTGCCACTGAGCTCTACCA	0.498000													35	192					3.90053e-15	5.99513e-15	1	1	0
ACVR2A	92	broad.mit.edu	37	2	148654051	148654051	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:148654051G>T	ENST00000241416.7	+	2	873	c.237G>T	c.(235-237)tgG>tgT	p.W79C	ACVR2A_ENST00000535787.1_5'UTR|ACVR2A_ENST00000404590.1_Missense_Mutation_p.W79C	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	79					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AAGGTTGTTGGCTGGATGATA	0.378000													24	173					1.64293e-13	2.42904e-13	1	1	0
PTGS1	5742	broad.mit.edu	37	9	125154560	125154560	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr9:125154560C>A	ENST00000362012.2	+	11	1542	c.1537C>A	c.(1537-1539)Cca>Aca	p.P513T	PTGS1_ENST00000373698.5_Missense_Mutation_p.P404T|PTGS1_ENST00000540753.1_Missense_Mutation_p.P451T|PTGS1_ENST00000223423.4_Missense_Mutation_p.P476T	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	513					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	AAAGTGCCATCCAAACTCTAT	0.498000													39	117					6.97489e-18	1.14707e-17	1	1	0
PRAMEF19	645414	broad.mit.edu	37	1	13695910	13695910	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:13695910T>A	ENST00000540591.1	-	3	1101	c.1055A>T	c.(1054-1056)cAg>cTg	p.Q352L	PRAMEF19_ENST00000376101.2_Missense_Mutation_p.Q283L	NM_001099790.1	NP_001093260.2			PRAME family member 19											lung(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGAGGGTCTGAAGAGTGGC	0.542000													57	404					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112895	248112895	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:248112895G>T	ENST00000357191.3	+	1	736	c.736G>T	c.(736-738)Gta>Tta	p.V246L	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCACCTCACTGTAGTAACTTT	0.458000													44	222					1.15183e-24	2.08216e-24	1	1	0
CDH6	1004	broad.mit.edu	37	5	31318112	31318112	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:31318112T>A	ENST00000514738.1	+	11	2228	c.1798T>A	c.(1798-1800)Tcc>Acc	p.S600T	CDH6_ENST00000265071.2_Intron			P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	0	Cadherin 5.				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						TTTATCTGCCTCCCCCATTAA	0.478000													7	93					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79469085	79469085	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr9:79469085C>T	ENST00000376718.3	-	2	199	c.76G>A	c.(76-78)Ggg>Agg	p.G26R	PRUNE2_ENST00000376713.3_Missense_Mutation_p.G26R|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	26					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GATTTAGGCCCAATAACCACA	0.358000													16	74					0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116629850	116629850	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:116629850C>G	ENST00000260210.4	-	6	1323	c.1300G>C	c.(1300-1302)Gac>Cac	p.D434H	BUD13_ENST00000375445.3_Missense_Mutation_p.D300H	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	434										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CGCTGTATGTCAGTTAACACC	0.438000													14	238					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170747	207170747	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:207170747G>A	ENST00000374423.3	+	5	1881	c.1495G>A	c.(1495-1497)Gat>Aat	p.D499N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	499							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTTGATTGTGATGCTTCACC	0.388000													39	111					0	0	1	0	0
FCRL2	79368	broad.mit.edu	37	1	157736727	157736727	+	Silent	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:157736727A>T	ENST00000361516.3	-	7	1245	c.1197T>A	c.(1195-1197)gcT>gcA	p.A399A	FCRL2_ENST00000368181.4_Silent_p.A115A|FCRL2_ENST00000469986.1_Silent_p.A146A|FCRL2_ENST00000392274.3_Silent_p.A399A	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	399					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGAGAACTCCAGCTGTCATGA	0.463000													14	141					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46252533	46252533	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:46252533A>T	ENST00000510861.1	-	10	1321	c.1148T>A	c.(1147-1149)gTt>gAt	p.V383D	GABRA2_ENST00000514090.1_Missense_Mutation_p.V383D|GABRA2_ENST00000540012.1_Missense_Mutation_p.V388D|GABRA2_ENST00000381620.4_Missense_Mutation_p.V383D|GABRA2_ENST00000356504.1_Missense_Mutation_p.V383D|GABRA2_ENST00000507069.1_Missense_Mutation_p.V443D			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	383					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTGGAGAGAACTGGATCTTT	0.418000													68	371					0	0	1	0	0
HTR7	3363	broad.mit.edu	37	10	92617180	92617180	+	Silent	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:92617180C>G	ENST00000371721.3	-	1	491	c.249G>C	c.(247-249)gtG>gtC	p.V83V	HTR7_ENST00000277874.6_Silent_p.V83V|HTR7_ENST00000371719.2_Silent_p.V83V|HTR7_ENST00000336152.3_Silent_p.V83V			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	83					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TGGAGCCGATCACAACTTTCT	0.642000													31	93					0	0	1	0	0
LGI1	9211	broad.mit.edu	37	10	95556801	95556801	+	Silent	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:95556801C>G	ENST00000371418.4	+	8	1175	c.915C>G	c.(913-915)ggC>ggG	p.G305G	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Silent_p.G257G	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	305					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TGTTTGGTGGCTCTCACATCT	0.383000													49	157					0	0	1	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139430	142139430	+	RNA	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:142139430C>A	ENST00000390374.3	-	0	239																											TGAAGTAAGTCAGAAACTCTG	0.527000													23	168					0.000229342	0.000248245	1	1	0
PASK	23178	broad.mit.edu	37	2	242075382	242075382	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:242075382C>A	ENST00000403638.3	-	8	1301	c.1210G>T	c.(1210-1212)Gac>Tac	p.D404Y	PASK_ENST00000234040.4_Missense_Mutation_p.D404Y|PASK_ENST00000358649.4_Missense_Mutation_p.D404Y|PASK_ENST00000539818.1_Missense_Mutation_p.D188Y|PASK_ENST00000544142.1_Missense_Mutation_p.D218Y|PASK_ENST00000405260.1_Missense_Mutation_p.D404Y	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	404					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CTGGCCAGGTCTGGGAGCTGT	0.552000													40	229					6.5261e-18	1.07723e-17	1	1	0
CDH10	1008	broad.mit.edu	37	5	24535928	24535928	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:24535928G>T	ENST00000264463.4	-	4	1037	c.530C>A	c.(529-531)aCt>aAt	p.T177N		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	177	Cadherin 2.				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)		CACCACAGAAGTACCTGAAGT	0.443000										HNSCC(23;0.051)			26	84					1.66031e-10	2.22287e-10	1	1	0
TRIM26	7726	broad.mit.edu	37	6	30153775	30153775	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:30153775C>A	ENST00000454678.2	-	10	1934	c.1498G>T	c.(1498-1500)Gtg>Ttg	p.V500L	TRIM26_ENST00000453195.1_Missense_Mutation_p.V500L|TRIM26_ENST00000437089.1_Missense_Mutation_p.V500L	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	500	B30.2/SPRY.						DNA binding|zinc ion binding			lung(1)|ovary(2)	3						GTGAAAGTCACGGTGCCCCCT	0.627000													4	29					1	1	1	1	0
TRGV8	6982	broad.mit.edu	37	7	38369982	38369982	+	RNA	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:38369982G>T	ENST00000390343.2	-	0	429																											CCAGAGTCACGTTCAATTAGA	0.448000													6	106					0.0215528	0.0220971	1	1	0
DLGAP2	9228	broad.mit.edu	37	8	1497084	1497084	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:1497084C>G	ENST00000421627.2	+	2	359	c.225C>G	c.(223-225)caC>caG	p.H75Q		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	154					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGGGCGACCACGTGTCCAGCA	0.711000													3	14					0	0	1	0	0
WDR44	54521	broad.mit.edu	37	X	117528039	117528039	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:117528039C>G	ENST00000254029.3	+	5	1243	c.848C>G	c.(847-849)tCt>tGt	p.S283C	WDR44_ENST00000371822.5_Missense_Mutation_p.S258C|WDR44_ENST00000371825.3_Missense_Mutation_p.S283C	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	283						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AATATTACGTCTGATTCTCTC	0.383000													11	67					0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53096689	53096689	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:53096689G>T	ENST00000341809.3	-	1	558	c.530C>A	c.(529-531)tCc>tAc	p.S177Y	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	177	Coil 1A.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						gtcaatgaaggaggcaaactt	0.522000													12	208					3.07112e-06	3.56633e-06	1	1	0
TAS2R16	50833	broad.mit.edu	37	7	122635088	122635088	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:122635088C>A	ENST00000249284.2	-	1	666	c.601G>T	c.(601-603)Gca>Tca	p.A201S		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	201					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTCAGTGATGCCATGAGAAAG	0.453000													35	162					7.11191e-15	1.08935e-14	1	1	0
CACNA1I	8911	broad.mit.edu	37	22	40080422	40080422	+	Silent	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr22:40080422T>A	ENST00000336649.4	+	39	5964	c.5964T>A	c.(5962-5964)acT>acA	p.T1988T	CACNA1I_ENST00000404898.1_Silent_p.T1947T|CACNA1I_ENST00000402142.3_Silent_p.T1982T|CACNA1I_ENST00000400164.3_Silent_p.T1947T|CACNA1I_ENST00000407673.1_Silent_p.T1947T|CACNA1I_ENST00000401624.1_Silent_p.T1982T			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1982					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCACTGGCACTGGAACCCTCC	0.642000													4	35					0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18775203	18775203	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:18775203G>T	ENST00000300976.4	+	2	306	c.216G>T	c.(214-216)gaG>gaT	p.E72D	KLHL26_ENST00000596843.1_3'UTR|KLHL26_ENST00000599006.1_Missense_Mutation_p.E72D|KLHL26_ENST00000595182.1_Missense_Mutation_p.E72D	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	72	BTB.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TTAACAGAGAGGCCTTTCCTG	0.642000													60	137					1.44317e-28	2.67376e-28	1	1	0
SP5	389058	broad.mit.edu	37	2	171573798	171573798	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:171573798T>C	ENST00000375281.3	+	2	1243	c.1081T>C	c.(1081-1083)Tgc>Cgc	p.C361R		NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						CTGTCCCGAGTGCGGCAAGCG	0.627000													6	31					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38704920	38704920	+	Silent	SNP	A	A	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:38704920A>G	ENST00000359357.3	+	4	443	c.189A>G	c.(187-189)ctA>ctG	p.L63L	DNAH8_ENST00000449981.2_Silent_p.L280L|DNAH8_ENST00000441566.1_Silent_p.L63L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATATATTTCTACCAGCTGTTC	0.393000													24	144					0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104439440	104439440	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:104439440G>T	ENST00000297579.5	+	5	1317	c.1040G>T	c.(1039-1041)gGa>gTa	p.G347V	DCAF13_ENST00000521999.1_3'UTR|DCAF13_ENST00000521971.1_Missense_Mutation_p.G155V|DCAF13_ENST00000519682.1_Missense_Mutation_p.G191V	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	195					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ATGACCTGGGGATTTGACAGT	0.318000													10	122					1.76689e-08	2.23173e-08	1	1	0
CSGALNACT2	55454	broad.mit.edu	37	10	43650897	43650897	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:43650897G>T	ENST00000374466.3	+	2	635	c.300G>T	c.(298-300)agG>agT	p.R100S	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R100S	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	100					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAGAAAGAAGGAATGTAGGGG	0.413000													33	75					1.30897e-18	2.19308e-18	1	1	0
TAOK1	57551	broad.mit.edu	37	17	27869681	27869681	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:27869681A>T	ENST00000261716.3	+	20	3166	c.2647A>T	c.(2647-2649)Atg>Ttg	p.M883L	TAOK1_ENST00000536202.1_Missense_Mutation_p.M735L	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	883					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CTCTGAAAGCATGAGACTAGG	0.478000													22	331					0	0	1	0	0
LXN	56925	broad.mit.edu	37	3	158388747	158388747	+	Splice_Site	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:158388747T>A	ENST00000264265.3	-	2	405	c.192_splice	c.e2+1	p.K64_splice	GFM1_ENST00000478576.1_Intron|GFM1_ENST00000486715.1_Intron|GFM1_ENST00000264263.5_Intron	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin	64						cytoplasm	metalloendopeptidase inhibitor activity|protein binding			breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTAACTTACTTTTTGTATAAT	0.373000													19	35					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186092348	186092348	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:186092348C>A	ENST00000271588.4	+	81	12724	c.12495C>A	c.(12493-12495)gtC>gtA	p.V4165V	HMCN1_ENST00000367492.2_Silent_p.V4165V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4165					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGCTCACCGTCCATGGTAGGT	0.463000													6	42					0.0215528	0.0220971	1	1	0
SRGAP2	23380	broad.mit.edu	37	1	206610339	206610339	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:206610339G>T	ENST00000414007.1	+	11	1160	c.1160G>T	c.(1159-1161)cGg>cTg	p.R387L	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	527					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.R387L(1)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GGAATTTTCCGGGTGTCAGGA	0.403000													16	222					2.94398e-08	3.70801e-08	1	1	0
MMP2	4313	broad.mit.edu	37	16	55516966	55516966	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:55516966C>A	ENST00000219070.4	+	2	808	c.299C>A	c.(298-300)cCa>cAa	p.P100Q	MMP2_ENST00000543485.1_Missense_Mutation_p.P24Q|MMP2_ENST00000437642.2_Missense_Mutation_p.P50Q|MMP2_ENST00000570308.1_Missense_Mutation_p.P24Q	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	100					angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	ATGCGGAAGCCACGCTGCGGC	0.542000													29	153					5.60225e-13	8.17452e-13	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13820564	13820564	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:13820564C>A	ENST00000265104.4	-	41	6836	c.6732G>T	c.(6730-6732)aaG>aaT	p.K2244N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2244	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCTGGATGACCTTCAGTTTCC	0.502000									Kartagener syndrome				25	112					3.7963e-18	6.28961e-18	1	1	0
KCNC4	3749	broad.mit.edu	37	1	110765949	110765949	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:110765949G>T	ENST00000369787.3	+	2	1069	c.1042G>T	c.(1042-1044)Gtg>Ttg	p.V348L	KCNC4_ENST00000413138.3_Missense_Mutation_p.V348L|KCNC4_ENST00000438661.2_Missense_Mutation_p.V348L|KCNC4_ENST00000412512.2_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	348					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTTCCTGCGCGTGGTGCGCTT	0.637000													10	99					2.17888e-05	2.44133e-05	1	1	0
RDH12	145226	broad.mit.edu	37	14	68193706	68193706	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:68193706C>A	ENST00000551171.1	+	7	781	c.457C>A	c.(457-459)Ctc>Atc	p.L153I	RDH12_ENST00000267502.3_Missense_Mutation_p.L153I|RDH12_ENST00000539142.1_Missense_Mutation_p.L153I	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	153					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)	AGGCCACTTCCTCCTCACCTA	0.562000													10	82					0.000978159	0.0010325	1	1	0
CYLC1	1538	broad.mit.edu	37	X	83116205	83116205	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:83116205G>C	ENST00000329312.4	+	1	52	c.15G>C	c.(13-15)agG>agC	p.R5S		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	5					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CTCTTCCAAGGTTGTAAGTCC	0.323000													15	32					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123901145	123901145	+	Silent	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:123901145C>T	ENST00000431524.1	+	1	849	c.816C>T	c.(814-816)gcC>gcT	p.A272A		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		GAGTTGTGGCCGTTTTCTACA	0.517000													17	156					0	0	1	0	0
ZNF501	115560	broad.mit.edu	37	3	44776081	44776081	+	Silent	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:44776081A>T	ENST00000396048.2	+	3	605	c.168A>T	c.(166-168)ggA>ggT	p.G56G		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		GTGAATGTGGAAGTTGTTTCC	0.403000													44	86					0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115337879	115337879	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:115337879G>T	ENST00000351270.3	+	6	639	c.543G>T	c.(541-543)caG>caT	p.Q181H	HABP2_ENST00000537906.1_Missense_Mutation_p.S170I|HABP2_ENST00000541666.1_Missense_Mutation_p.Q181H|HABP2_ENST00000542051.1_Missense_Mutation_p.Q155H	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	181	EGF-like 3.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		GTCCCGACCAGTTCAAGGGGA	0.552000													20	105					1.96292e-10	2.61235e-10	1	1	0
RGL1	23179	broad.mit.edu	37	1	183891434	183891434	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:183891434G>C	ENST00000304685.3	+	18	2649	c.2188G>C	c.(2188-2190)Gag>Cag	p.E730Q	RGL1_ENST00000536277.1_Missense_Mutation_p.E693Q|RGL1_ENST00000367531.1_Missense_Mutation_p.E730Q|RGL1_ENST00000360851.3_Missense_Mutation_p.E695Q|RGL1_ENST00000539189.1_Missense_Mutation_p.E666Q	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	695	Ras-associating.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CCCCGCCGAGGAGTACGAGCT	0.562000											OREG0014047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	45					0	0	1	0	0
ARMCX1	51309	broad.mit.edu	37	X	100808177	100808177	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:100808177G>A	ENST00000372829.3	+	4	635	c.264G>A	c.(262-264)ccG>ccA	p.P88P		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	88						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						AGGATTGTCCGGGTGTAAAAG	0.552000													5	39					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131331147	131331147	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr9:131331147G>C	ENST00000358161.5	+	3	447	c.334G>C	c.(334-336)Gaa>Caa	p.E112Q	SPTAN1_ENST00000372731.4_Missense_Mutation_p.E112Q|SPTAN1_ENST00000372739.3_Missense_Mutation_p.E112Q			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	112					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GATGATCTCAGAAGGGCATTT	0.468000													7	94					0	0	1	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377921	125377921	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr9:125377921T>C	ENST00000297913.2	+	1	974	c.905T>C	c.(904-906)aTg>aCg	p.M302T	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GGAGGCTTCATGAAATGGATG	0.453000													22	133					0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87678184	87678184	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:87678184G>C	ENST00000284262.2	+	2	945	c.703G>C	c.(703-705)Gcc>Ccc	p.A235P		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	235					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GAGCAGCCTGGCCAGCCAACG	0.632000													16	123					0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48594665	48594665	+	Splice_Site	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:48594665G>A	ENST00000262384.3	-	2	2125	c.1889_splice	c.e2+1	p.T630_splice	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	630					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				ATGGACTTACGTAATTGCAAC	0.343000													50	217					0	0	1	0	0
CLUH	23277	broad.mit.edu	37	17	2601268	2601268	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:2601268C>A	ENST00000570628.1	-	10	1874	c.1769G>T	c.(1768-1770)cGc>cTc	p.R590L	CLUH_ENST00000575014.1_Missense_Mutation_p.R522L|CLUH_ENST00000435359.1_Missense_Mutation_p.R590L|CLUH_ENST00000538975.1_Missense_Mutation_p.R590L					clustered mitochondria (cluA/CLU1) homolog																		GAAGCCGGCGCGGGCGCATTC	0.716000													3	10					6.4e-05	7.10846e-05	1	1	0
IGHV1-45	28466	broad.mit.edu	37	14	106963354	106963354	+	RNA	SNP	A	A	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:106963354A>G	ENST00000390621.2	-	0	70																											AGGATTCTCCAGGTCCAGTCC	0.527000													18	143					0	0	1	0	0
HOXB5	3215	broad.mit.edu	37	17	46669635	46669635	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:46669635C>A	ENST00000239151.5	-	2	1024	c.746G>T	c.(745-747)tGg>tTg	p.W249L	HOXB-AS3_ENST00000480872.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000474040.1_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	249						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						GTCCTTCTTCCACTTCATGCG	0.622000													13	236					5.50884e-06	6.29078e-06	1	1	0
FCAR	2204	broad.mit.edu	37	19	55399706	55399706	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:55399706G>C	ENST00000469767.1	+	4	704	c.694G>C	c.(694-696)Ggg>Cgg	p.G232R	FCAR_ENST00000391726.3_Intron|FCAR_ENST00000359272.4_Intron|FCAR_ENST00000355524.3_Intron|FCAR_ENST00000391725.3_Intron|FCAR_ENST00000391723.3_Intron|FCAR_ENST00000353758.4_Intron|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000391724.3_Intron|FCAR_ENST00000482092.2_Intron	NM_133279.2	NP_579813.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	0					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		TGGCTGTCCAGGGCCTTGCCA	0.587000													11	24					0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33623269	33623269	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:33623269G>A	ENST00000361680.2	+	1	272	c.194G>A	c.(193-195)aGg>aAg	p.R65K	WDR88_ENST00000355868.3_Missense_Mutation_p.R65K|WDR88_ENST00000592765.1_Missense_Mutation_p.R65K			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	65										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					GCCTTGGACAGGGAACCACCA	0.647000													37	151					0	0	1	0	0
CDK15	65061	broad.mit.edu	37	2	202755507	202755507	+	Splice_Site	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:202755507G>T	ENST00000410091.3	+	14	1394		c.e14-1		CDK15_ENST00000450471.2_Intron|CDK15_ENST00000260967.2_Splice_Site|CDK15_ENST00000374598.4_Splice_Site			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15								ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	CATTCCTACAGAGGAGTCTTT	0.418000													16	99					3.41278e-10	4.51499e-10	1	1	0
SEZ6	124925	broad.mit.edu	37	17	27284379	27284379	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:27284379G>T	ENST00000317338.12	-	12	2909	c.2481C>A	c.(2479-2481)gcC>gcA	p.A827A	SEZ6_ENST00000442608.3_Silent_p.A827A|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000360295.9_Silent_p.A827A|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	827	Sushi 4.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GACATTTAGGGGCCCGGTCAC	0.557000													95	270					5.78178e-49	1.13976e-48	1	1	0
CDK14	5218	broad.mit.edu	37	7	90419930	90419930	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:90419930G>T	ENST00000406263.1	+	4	811	c.369G>T	c.(367-369)caG>caT	p.Q123H	CDK14_ENST00000380050.3_Missense_Mutation_p.Q169H|CDK14_ENST00000265741.3_Missense_Mutation_p.Q151H|CDK14_ENST00000436577.2_Missense_Mutation_p.Q40H			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	169					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TCAGGCTGCAGGAAGAAGAAG	0.393000													16	102					0.000958276	0.00101391	1	1	0
PGM5P2	595135	broad.mit.edu	37	9	69113595	69113595	+	RNA	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr9:69113595A>T	ENST00000591037.1	-	0	1050					NR_002836.2																						TTACCCCATCAGCATCAAATG	0.453000													14	75					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87179487	87179487	+	Splice_Site	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:87179487C>A	ENST00000265724.3	-	13	1767	c.1350_splice	c.e13+1	p.M450_splice	ABCB1_ENST00000543898.1_Splice_Site_p.M386_splice	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	450	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	GTCATCTCACCATCCCCTCTG	0.527000													14	105					4.3838e-07	5.29734e-07	1	1	0
RET	5979	broad.mit.edu	37	10	43601832	43601832	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:43601832G>A	ENST00000355710.3	+	5	1108	c.876G>A	c.(874-876)gtG>gtA	p.V292V	RET_ENST00000340058.5_Silent_p.V292V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	292			V -> M (in dbSNP:rs34682185).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AGGACACCGTGGTGGCCACGC	0.642000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				13	30					0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14003674	14003674	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:14003674A>T	ENST00000454313.1	-	5	376	c.318T>A	c.(316-318)ttT>ttA	p.F106L	C19orf57_ENST00000591586.1_Missense_Mutation_p.F106L|C19orf57_ENST00000586783.1_Missense_Mutation_p.F106L|C19orf57_ENST00000346736.2_Missense_Mutation_p.F106L			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	106					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TGGATTTTGCAAACTGGGGAA	0.453000													16	78					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24787985	24787985	+	Splice_Site	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:24787985C>A	ENST00000310677.4	-	25	3070		c.e25-1		ADCY4_ENST00000554068.2_Splice_Site|ADCY4_ENST00000418030.2_Splice_Site	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4						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|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGGTTCAACCCTAATGAGGGA	0.552000													54	129					1.56989e-16	2.49451e-16	1	1	0
SLC12A5	57468	broad.mit.edu	37	20	44674559	44674559	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:44674559C>A	ENST00000454036.1	+	13	1757	c.1681C>A	c.(1681-1683)Ctg>Atg	p.L561M	SLC12A5_ENST00000539566.1_Silent_p.P184P|SLC12A5_ENST00000243964.3_Missense_Mutation_p.L538M	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	561					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GACCTGGGCCCTGCTCCTGAC	0.587000													27	148					8.24728e-16	1.29207e-15	1	1	0
CLCNKA	1187	broad.mit.edu	37	1	16353090	16353090	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:16353090G>T	ENST00000375692.1	+	7	686	c.558G>T	c.(556-558)acG>acT	p.T186T	CLCNKA_ENST00000331433.4_Silent_p.T186T|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Silent_p.T143T|CLCNKA_ENST00000420078.1_Silent_p.T186T			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	186					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TGCGCACCACGACCATCGGGG	0.652000													31	107					1.62565e-12	2.33018e-12	1	1	0
RIMS2	9699	broad.mit.edu	37	8	104955137	104955137	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:104955137C>A	ENST00000507740.1	+	11	2296	c.2060C>A	c.(2059-2061)cCa>cAa	p.P687Q	RIMS2_ENST00000262231.10_Missense_Mutation_p.P734Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.P895Q|RIMS2_ENST00000436393.2_Missense_Mutation_p.P673Q	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	957	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGAGAGAGCCCAACACGGAGG	0.393000										HNSCC(12;0.0054)			17	84					1.02788e-11	1.42753e-11	1	1	0
PRAMEF19	645414	broad.mit.edu	37	1	13695909	13695909	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:13695909C>A	ENST00000540591.1	-	3	1102	c.1056G>T	c.(1054-1056)caG>caT	p.Q352H	PRAMEF19_ENST00000376101.2_Missense_Mutation_p.Q283H	NM_001099790.1	NP_001093260.2			PRAME family member 19											lung(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGAGGGTCTGAAGAGTGG	0.542000													60	409					1.34568e-36	2.60106e-36	1	1	0
MCTP1	79772	broad.mit.edu	37	5	94114854	94114854	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:94114854C>A	ENST00000515393.1	-	19	2570	c.2571G>T	c.(2569-2571)atG>atT	p.M857I	MCTP1_ENST00000505078.1_Missense_Mutation_p.M373I|MCTP1_ENST00000429576.2_Missense_Mutation_p.M550I|MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000312216.8_Missense_Mutation_p.M636I	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	857					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CGTCCTCTAGCATGTCCTCCA	0.413000													23	83					5.49717e-05	6.11329e-05	1	1	0
G6PC	2538	broad.mit.edu	37	17	41061384	41061384	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:41061384A>T	ENST00000253801.2	+	4	590	c.511A>T	c.(511-513)Atc>Ttc	p.I171F	G6PC_ENST00000585489.1_Intron|G6PC_ENST00000592383.1_Missense_Mutation_p.N145I	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	171					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCTGTCACGAATCTACCTTGC	0.493000													35	492					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85448773	85448773	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:85448773T>A	ENST00000394573.1	+	8	809	c.607T>A	c.(607-609)Tcc>Acc	p.S203T	SLC28A1_ENST00000537216.1_Missense_Mutation_p.S203T|SLC28A1_ENST00000538177.1_Missense_Mutation_p.S203T|SLC28A1_ENST00000286749.3_Missense_Mutation_p.S203T|SLC28A1_ENST00000537703.1_Missense_Mutation_p.S125T|SLC28A1_ENST00000537624.1_Missense_Mutation_p.S203T	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	203					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTGGTAGGTGTCCTGGAGGGC	0.597000													12	71					0	0	1	0	0
C4orf3	401152	broad.mit.edu	37	4	120221744	120221744	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:120221744G>T	ENST00000399075.4	-	2	345	c.346C>A	c.(346-348)Cgg>Agg	p.R116R	C4orf3_ENST00000504110.1_5'UTR	NM_001170330.1	NP_001163801.1	Q8WVX3	CD003_HUMAN	chromosome 4 open reading frame 3	0						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						TTAAGTTCCCGGACTTTGGTG	0.612000													11	51					0.000673444	0.000713387	1	1	0
GCSAM	257144	broad.mit.edu	37	3	111846907	111846907	+	Splice_Site	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:111846907A>T	ENST00000308910.4	-	3	284	c.98_splice	c.e3-1	p.C34_splice	GCSAM_ENST00000484193.1_Splice_Site_p.C36_splice|C3orf52_ENST00000467942.2_Intron	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1			germinal center-associated, signaling and motility																		TGATCCCAGCATCTAAAATAC	0.403000													25	45					0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176814841	176814841	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:176814841T>C	ENST00000324417.5	+	6	702	c.611T>C	c.(610-612)cTg>cCg	p.L204P	SLC34A1_ENST00000512593.1_Missense_Mutation_p.L204P	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	204					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCGTGGCCCTGATGCAGGCG	0.647000													15	56					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70805455	70805455	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:70805455G>T	ENST00000358731.4	+	17	2799	c.2536G>T	c.(2536-2538)Gca>Tca	p.A846S	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	846	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AATGGCGGCAGCATTGAGAGA	0.413000													18	164					4.63292e-17	7.52218e-17	1	1	0
LMBRD1	55788	broad.mit.edu	37	6	70386411	70386411	+	Silent	SNP	T	T	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:70386411T>G	ENST00000370577.3	-	15	1669	c.1440A>C	c.(1438-1440)acA>acC	p.T480T	LMBRD1_ENST00000370570.1_Silent_p.T407T	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	480					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						GGAATAGGTATGTCCGGGTAA	0.383000													16	89					0	0	1	0	0
C10orf88	80007	broad.mit.edu	37	10	124691998	124691998	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:124691998C>A	ENST00000481909.1	-	6	1507	c.1283G>T	c.(1282-1284)gGg>gTg	p.G428V	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	428										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TAGAGGTATCCCAGTGGGCGG	0.378000													30	99					3.99451e-17	6.5093e-17	1	1	0
PTGDR	5729	broad.mit.edu	37	14	52734991	52734991	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:52734991C>A	ENST00000306051.2	+	1	561	c.459C>A	c.(457-459)gcC>gcA	p.A153A	PTGDR_ENST00000553372.1_Silent_p.A153A	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	153						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CACTGGTGGCCCCGGTGGTGA	0.632000													30	195					4.22769e-11	5.77268e-11	1	1	0
ADAM33	80332	broad.mit.edu	37	20	3655488	3655488	+	Missense_Mutation	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:3655488G>C	ENST00000356518.2	-	5	583	c.342C>G	c.(340-342)tgC>tgG	p.C114W	ADAM33_ENST00000350009.2_Missense_Mutation_p.C114W|ADAM33_ENST00000379861.4_Missense_Mutation_p.C114W	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	114					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CTTGGTAGTGGCAATGATCCT	0.647000													9	52					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5303727	5303727	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:5303727G>T	ENST00000274181.7	+	20	3172	c.3034G>T	c.(3034-3036)Gcc>Tcc	p.A1012S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1012	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCGGGCAGTGGCCTGTAAGAG	0.612000													9	134					2.17888e-05	2.44133e-05	1	1	0
CASP2	835	broad.mit.edu	37	7	142989754	142989754	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:142989754G>A	ENST00000310447.5	+	4	679	c.438G>A	c.(436-438)gaG>gaA	p.E146E	CASP2_ENST00000493642.1_3'UTR|CASP2_ENST00000392925.2_Silent_p.E146E	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	146					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					CGGTGTGTGAGTCCTGTCCCC	0.507000													9	95					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34757653	34757653	+	Silent	SNP	C	C	A	rs75344357	byFrequency	TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:34757653C>A	ENST00000265109.3	+	3	404	c.117C>A	c.(115-117)ctC>ctA	p.L39L	RAI14_ENST00000503673.1_Silent_p.L39L|RAI14_ENST00000397449.1_Silent_p.L32L|RAI14_ENST00000506376.1_Silent_p.L31L|RAI14_ENST00000515799.1_Silent_p.L42L|RAI14_ENST00000428746.2_Silent_p.L39L|RAI14_ENST00000512629.1_Silent_p.L39L|RAI14_ENST00000507276.1_3'UTR	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	39						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CCTCACTGCTCGGCAAGAAGG	0.532000													8	140					1.06961e-07	1.32846e-07	1	1	0
HAO2	51179	broad.mit.edu	37	1	119925536	119925536	+	Splice_Site	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:119925536A>T	ENST00000361035.4	+	4	453		c.e4-1		HAO2_ENST00000325945.3_Splice_Site	NM_001005783.1	NP_001005783.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)						fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TGTCCGGCACAGAATTCGCCT	0.542000													15	38					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130417038	130417038	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:130417038C>A	ENST00000370904.1	-	12	1751	c.841G>T	c.(841-843)Gat>Tat	p.D281Y	IGSF1_ENST00000370903.3_Missense_Mutation_p.D290Y|IGSF1_ENST00000361420.3_Missense_Mutation_p.D290Y|IGSF1_ENST00000370910.1_Missense_Mutation_p.D281Y			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	290	Ig-like C2-type 3.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGTCCAGTATCTTGGATCTTC	0.398000													28	78					2.12542e-12	3.03679e-12	1	1	0
SCN5A	6331	broad.mit.edu	37	3	38639235	38639235	+	Silent	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:38639235C>T	ENST00000413689.1	-	14	2440	c.2247G>A	c.(2245-2247)ctG>ctA	p.L749L	SCN5A_ENST00000443581.1_Silent_p.L749L|SCN5A_ENST00000425664.1_Silent_p.L749L|SCN5A_ENST00000451551.2_Silent_p.L749L|SCN5A_ENST00000455624.2_Silent_p.L749L|SCN5A_ENST00000450102.2_Silent_p.L749L|SCN5A_ENST00000414099.2_Silent_p.L749L|SCN5A_ENST00000333535.4_Silent_p.L749L|SCN5A_ENST00000423572.2_Silent_p.L749L|SCN5A_ENST00000449557.2_Silent_p.L749L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	749					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TTCCGACCTGCAGCATCTCCT	0.557000													15	106					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101853660	101853660	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:101853660C>A	ENST00000348070.1	-	21	2616	c.2617G>T	c.(2617-2619)Gac>Tac	p.D873Y	PCSK6_ENST00000358417.3_Missense_Mutation_p.D860Y|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	874	CRM (Cys-rich motif).				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CACTTCCAGTCGTGGAAGTGG	0.567000													8	112					0.000157383	0.000170769	1	1	0
GRM5	2915	broad.mit.edu	37	11	88301113	88301113	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:88301113G>T	ENST00000418177.2	-	8	2105	c.1738C>A	c.(1738-1740)Ccc>Acc	p.P580T	GRM5_ENST00000305447.4_Missense_Mutation_p.P580T|GRM5_ENST00000455756.2_Missense_Mutation_p.P580T|GRM5_ENST00000393297.1_Missense_Mutation_p.P580T|GRM5_ENST00000305432.5_Missense_Mutation_p.P580T			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	580					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GCTGCAATGGGTTCAGGGTCA	0.493000													18	53					5.03518e-11	6.86476e-11	1	1	0
SLC22A16	85413	broad.mit.edu	37	6	110768186	110768186	+	Missense_Mutation	SNP	G	G	A	rs145601305		TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:110768186G>A	ENST00000368919.3	-	3	607	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	SLC22A16_ENST00000330550.4_Missense_Mutation_p.R147C|SLC22A16_ENST00000439654.1_Missense_Mutation_p.R181C|SLC22A16_ENST00000456137.2_3'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	181					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		ACCACCCGGCGTCCTAGCCTG	0.433000													10	77					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466017	56466017	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:56466017C>A	ENST00000291971.3	+	3	664	c.593C>A	c.(592-594)cCc>cAc	p.P198H	NLRP8_ENST00000590542.1_Missense_Mutation_p.P198H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	198						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)		CCCAAAAGACCCCAGGGTAGA	0.527000													28	186					2.36697e-06	2.75941e-06	1	1	0
ZP3	7784	broad.mit.edu	37	7	76054523	76054523	+	Missense_Mutation	SNP	T	T	A	rs151289035	byFrequency	TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:76054523T>A	ENST00000336517.4	+	2	435	c.89T>A	c.(88-90)cTg>cAg	p.L30Q	ZP3_ENST00000394857.3_Missense_Mutation_p.L81Q	NM_007155.5	NP_009086.4	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	81					binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						TGTGAGCCTCTGGTCTCCATG	0.582000													12	61					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26761426	26761426	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr22:26761426C>A	ENST00000529632.2	+	13	2884	c.2688C>A	c.(2686-2688)tcC>tcA	p.S896S	SEZ6L_ENST00000402979.1_Silent_p.S669S|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000360929.3_Silent_p.S832S|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000404234.3_Silent_p.S896S|SEZ6L_ENST00000411842.2_Silent_p.S93S|SEZ6L_ENST00000248933.6_Silent_p.S896S|SEZ6L_ENST00000494013.1_3'UTR	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	896	Sushi 5.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CAGGAGAGTCCCTCACCTTCA	0.572000													35	138					5.8336e-16	9.17149e-16	1	1	0
MRC1	4360	broad.mit.edu	37	10	17949651	17949651	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:17949651T>C	ENST00000331429.2	+	28	4118	c.4015T>C	c.(4015-4017)Tct>Cct	p.S1339P																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ACATGCGTCTTCTGGGTTTTG	0.413000													140	245					0	0	1	0	0
TMEM169	92691	broad.mit.edu	37	2	216960735	216960735	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:216960735C>T	ENST00000454545.1	+	3	375	c.49C>T	c.(49-51)Cac>Tac	p.H17Y	TMEM169_ENST00000437356.2_Missense_Mutation_p.H17Y|TMEM169_ENST00000406027.2_Missense_Mutation_p.H17Y|TMEM169_ENST00000295658.4_Missense_Mutation_p.H17Y	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	17						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCAAGCCCCCACCAGGGCTC	0.542000													21	75					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922901	24922901	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:24922901C>A	ENST00000329468.2	+	1	2361	c.1887C>A	c.(1885-1887)caC>caA	p.H629Q		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TTATATTCCACAATACCACCC	0.498000													25	203					3.83957e-06	4.44713e-06	1	1	0
SOCS5	9655	broad.mit.edu	37	2	46986215	46986215	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:46986215G>A	ENST00000306503.5	+	2	718	c.546G>A	c.(544-546)caG>caA	p.Q182Q	SOCS5_ENST00000394861.2_Silent_p.Q182Q	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	182					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AGAGGTTGCAGGATACTGTGG	0.448000													24	174					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161163912	161163912	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:161163912C>A	ENST00000367996.4	-	5	1789	c.1361G>T	c.(1360-1362)gGg>gTg	p.G454V		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	454	Disintegrin.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGAGTCGGGCCCGAAGGTCAG	0.607000													39	102					5.71845e-15	8.77419e-15	1	1	0
ENTHD1	150350	broad.mit.edu	37	22	40140282	40140282	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr22:40140282G>T	ENST00000325157.6	-	7	1476	c.1226C>A	c.(1225-1227)aCt>aAt	p.T409N		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	409										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CTCAGAAGCAGTTGAAACTAA	0.358000													22	62					1.73308e-25	3.1714e-25	1	1	0
HOXD9	3235	broad.mit.edu	37	2	176988234	176988234	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:176988234C>A	ENST00000249499.6	+	1	1147	c.738C>A	c.(736-738)agC>agA	p.S246R	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	246						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CAGCTTGCAGCGACCACCCGA	0.662000													6	20					0.00116845	0.00122611	1	1	0
MAP3K7	6885	broad.mit.edu	37	6	91246079	91246079	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:91246079C>A	ENST00000369329.3	-	13	1494	c.1333G>T	c.(1333-1335)Gta>Tta	p.V445L	MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369327.3_Missense_Mutation_p.V418L|MAP3K7_ENST00000369325.3_Missense_Mutation_p.V445L|MAP3K7_ENST00000369332.3_Missense_Mutation_p.V418L|MAP3K7_ENST00000369320.1_Missense_Mutation_p.V99L	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	445					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GTTCCAGTTACAGTCAAGTCT	0.353000													18	77					1.2644e-06	1.50749e-06	1	1	0
GC	2638	broad.mit.edu	37	4	72622629	72622629	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:72622629C>A	ENST00000273951.8	-	8	1177	c.834G>T	c.(832-834)ctG>ctT	p.L278L	GC_ENST00000504199.1_Silent_p.L297L|GC_ENST00000503472.1_5'UTR|GC_ENST00000513476.1_Silent_p.L278L	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	278	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TGTGTTCAGGCAGCTACAAAA	0.343000													25	90					4.4004e-07	5.30305e-07	1	1	0
PEAR1	375033	broad.mit.edu	37	1	156874563	156874563	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:156874563C>T	ENST00000338302.3	+	4	350	c.125C>T	c.(124-126)tCc>tTc	p.S42F	PEAR1_ENST00000292357.7_Missense_Mutation_p.S42F			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	42	EMI.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ACCAAGGAGTCCCACTCCCGC	0.667000													7	131					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508133	106508133	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:106508133G>T	ENST00000359195.3	+	2	437	c.127G>T	c.(127-129)Gtg>Ttg	p.V43L	PIK3CG_ENST00000440650.2_Missense_Mutation_p.V43L|PIK3CG_ENST00000496166.1_Missense_Mutation_p.V43L	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	43					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CATCGAGTTCGTGCTGCCCAC	0.662000													21	118					1.96292e-10	2.61235e-10	1	1	0
ENPP2	5168	broad.mit.edu	37	8	120613651	120613651	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:120613651C>A	ENST00000427067.2	-	10	1053	c.873G>T	c.(871-873)ctG>ctT	p.L291L	ENPP2_ENST00000075322.6_Silent_p.L295L|ENPP2_ENST00000259486.6_Silent_p.L295L|ENPP2_ENST00000522826.1_Silent_p.L295L			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	295				Q -> R (in Ref. 1; AAA64785 and 5; ABW38316).	cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CATGATCTGGCAGGGTGAGCC	0.408000													23	142					5.35356e-11	7.26554e-11	1	1	0
TENM2	57451	broad.mit.edu	37	5	167631599	167631599	+	Missense_Mutation	SNP	G	G	A	rs141103827	by1000genomes	TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:167631599G>A	ENST00000519204.1	+	18	3552	c.3434G>A	c.(3433-3435)cGa>cAa	p.R1145Q	TENM2_ENST00000545108.1_Missense_Mutation_p.R1266Q|TENM2_ENST00000520394.1_Missense_Mutation_p.R1034Q|TENM2_ENST00000518659.1_Missense_Mutation_p.R1266Q|TENM2_ENST00000403607.2_Missense_Mutation_p.R1090Q					teneurin transmembrane protein 2																		TTTCCCTCTCGAAATGTGACC	0.522000													6	90					0	0	1	0	0
SEL1L	6400	broad.mit.edu	37	14	81969145	81969145	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:81969145C>A	ENST00000336735.4	-	6	813	c.697G>T	c.(697-699)Gat>Tat	p.D233Y	SEL1L_ENST00000555824.1_Missense_Mutation_p.D233Y	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	233	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GGCAAGTAATCACCAAATAAA	0.438000													27	291					7.92952e-12	1.10469e-11	1	1	0
C7	730	broad.mit.edu	37	5	40937673	40937673	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:40937673C>A	ENST00000313164.9	+	6	807	c.448C>A	c.(448-450)Cag>Aag	p.Q150K		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	150	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ACTCACTGGCCAGTTTAGGAA	0.398000													5	52					0.014758	0.0152181	1	1	0
DTNA	1837	broad.mit.edu	37	18	32455329	32455329	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr18:32455329G>A	ENST00000283365.9	+	17	1969	c.1618G>A	c.(1618-1620)Gta>Ata	p.V540I	DTNA_ENST00000598334.1_Missense_Mutation_p.V537I|DTNA_ENST00000601125.1_Missense_Mutation_p.V219I|DTNA_ENST00000591182.1_Missense_Mutation_p.V245I|DTNA_ENST00000598142.1_Missense_Mutation_p.V540I|DTNA_ENST00000595022.1_Missense_Mutation_p.V537I|DTNA_ENST00000269192.7_Missense_Mutation_p.V306I|DTNA_ENST00000444659.1_Missense_Mutation_p.V597I|DTNA_ENST00000399097.3_Missense_Mutation_p.V245I|DTNA_ENST00000399121.5_Missense_Mutation_p.V544I|DTNA_ENST00000399113.3_Missense_Mutation_p.V597I|DTNA_ENST00000269190.7_Missense_Mutation_p.V598I|DTNA_ENST00000556414.3_Missense_Mutation_p.V249I|DTNA_ENST00000590831.2_Missense_Mutation_p.V23I	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	597					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CCTCACAGGAGTAGGGGGAGA	0.542000													11	103					0	0	1	0	0
KLK13	26085	broad.mit.edu	37	19	51559975	51559975	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:51559975C>A	ENST00000595793.1	-	5	745	c.703G>T	c.(703-705)Gga>Tga	p.G235*	KLK13_ENST00000595547.1_Nonsense_Mutation_p.G162*|KLK13_ENST00000335422.3_Nonsense_Mutation_p.G83*	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	235	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GGGAAGTCTCCCCAGGAGACG	0.547000													58	178					3.07002e-29	5.73541e-29	1	1	0
LGR4	55366	broad.mit.edu	37	11	27390070	27390070	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:27390070T>A	ENST00000379214.4	-	18	2643	c.2200A>T	c.(2200-2202)Aaa>Taa	p.K734*	LGR4_ENST00000389858.4_Nonsense_Mutation_p.K710*	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	734						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AGGTCCTCTTTTTCCAAGTTG	0.383000													17	234					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154684051	154684051	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:154684051C>A	ENST00000404039.1	+	26	2854	c.2267C>A	c.(2266-2268)cCg>cAg	p.P756Q	DPP6_ENST00000427557.1_Missense_Mutation_p.P713Q|DPP6_ENST00000377770.3_Missense_Mutation_p.P820Q|DPP6_ENST00000332007.3_Missense_Mutation_p.P758Q	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	820					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CAGATTTACCCGGACGAAAGC	0.517000													19	106					1.33834e-09	1.74472e-09	1	1	0
MYO18A	399687	broad.mit.edu	37	17	27414069	27414069	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:27414069T>A	ENST00000527372.1	-	38	5777	c.5597A>T	c.(5596-5598)gAg>gTg	p.E1866V	MYO18A_ENST00000354329.4_Missense_Mutation_p.E1866V|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000531253.1_Missense_Mutation_p.E1866V|MYO18A_ENST00000533112.1_Missense_Mutation_p.E1829V|TIAF1_ENST00000408971.2_5'UTR	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1866					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTCCCGGTTCTCGGCTGCAAT	0.602000													26	147					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090518	91090518	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:91090518C>A	ENST00000373094.1	+	1	860	c.15C>A	c.(13-15)tcC>tcA	p.S5S	PCDH11X_ENST00000373097.1_Silent_p.S5S|PCDH11X_ENST00000395337.2_Silent_p.S5S|PCDH11X_ENST00000406881.1_Silent_p.S5S|PCDH11X_ENST00000373088.1_Silent_p.S5S|PCDH11X_ENST00000361655.2_Silent_p.S5S|PCDH11X_ENST00000361724.1_Silent_p.S5S|PCDH11X_ENST00000298274.8_Silent_p.S5S|PCDH11X_ENST00000504220.1_Silent_p.S5S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	5					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACTTGTTGTCCGGGACGTACA	0.478000													6	108					0.217242	0.218712	1	1	0
NOS2	4843	broad.mit.edu	37	17	26116653	26116653	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:26116653G>T	ENST00000313735.6	-	3	405	c.172C>A	c.(172-174)Cag>Aag	p.Q58K		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	58					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	ACGAGGGGCTGCGGGGACTCA	0.552000													33	181					1.04352e-10	1.40552e-10	1	1	0
CCDC141	285025	broad.mit.edu	37	2	179742775	179742775	+	Silent	SNP	C	C	A	rs150141190		TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:179742775C>A	ENST00000420890.2	-	12	1932	c.1815G>T	c.(1813-1815)tcG>tcT	p.S605S	CCDC141_ENST00000295723.5_Silent_p.S30S|CCDC141_ENST00000409284.1_Silent_p.S605S	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	30							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTTCTCAGCCGAGTCAGAAC	0.368000													29	133					7.01153e-11	9.45816e-11	1	1	0
MAGI3	260425	broad.mit.edu	37	1	114214364	114214364	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:114214364G>T	ENST00000369615.1	+	17	2886	c.2824G>T	c.(2824-2826)Ggt>Tgt	p.G942C	MAGI3_ENST00000369611.4_Missense_Mutation_p.G942C|MAGI3_ENST00000307546.9_Missense_Mutation_p.G942C|MAGI3_ENST00000369617.4_Missense_Mutation_p.G967C	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	967	Interaction with LPAR2 and GRIN2B.|PDZ 5.			D -> A (in Ref. 1; AAG24545).	apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAGCATCATGGTCCACCATC	0.493000													8	73					0.00448238	0.00465438	1	1	0
WNT7A	7476	broad.mit.edu	37	3	13860532	13860532	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:13860532C>A	ENST00000285018.4	-	4	1263	c.959G>T	c.(958-960)cGc>cTc	p.R320L		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	320					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						CTGCCACACGCGGGCGTACTG	0.632000													23	75					4.26978e-12	5.97635e-12	1	1	0
GON4L	54856	broad.mit.edu	37	1	155727098	155727098	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:155727098C>A	ENST00000437809.1	-	26	5392	c.5270G>T	c.(5269-5271)tGg>tTg	p.W1757L	GON4L_ENST00000271883.5_Missense_Mutation_p.W1757L|GON4L_ENST00000368331.1_Missense_Mutation_p.W1757L			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1757	PAH 2.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAGGAGCTGCCACATCTGTGT	0.532000													19	121					8.34094e-07	9.97116e-07	1	1	0
ZAN	7455	broad.mit.edu	37	7	100386939	100386939	+	RNA	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:100386939G>C	ENST00000542585.1	+	0	7472				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_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)			CTTTGAGCTGGTCGTCAGCTT	0.532000													34	85					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12704279	12704279	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:12704279G>A	ENST00000380682.1	+	7	1143	c.637G>A	c.(637-639)Ggg>Agg	p.G213R		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	213	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCTGGAAAATGGGCAGACCAA	0.403000													8	109					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50279605	50279605	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:50279605C>A	ENST00000284509.6	-	10	872	c.731G>T	c.(730-732)gGa>gTa	p.G244V	ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Missense_Mutation_p.G244V	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	244					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AATAACCATTCCAAAACACCA	0.463000													44	105					8.01111e-26	1.46898e-25	1	1	0
ST8SIA6	338596	broad.mit.edu	37	10	17362929	17362929	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:17362929A>T	ENST00000377602.4	-	8	1219	c.1145T>A	c.(1144-1146)cTt>cAt	p.L382H		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	382					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TTTCATGTGAAGTTGGAGGAT	0.373000													39	402					0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248844883	248844883	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:248844883G>A	ENST00000342623.3	-	1	746	c.723C>T	c.(721-723)ccC>ccT	p.P241P		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CAATGAGCTGGGGGGAGCAGG	0.468000													31	183					0	0	1	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72954781	72954781	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:72954781C>A	ENST00000421285.3	+	11	1036	c.1036C>A	c.(1036-1038)Ctc>Atc	p.L346I		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	346										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GGAGGAGATGCTCCGAGAGCA	0.557000													66	322					9.07738e-34	1.73951e-33	1	1	0
DACH2	117154	broad.mit.edu	37	X	85950162	85950162	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:85950162A>G	ENST00000373131.1	+	4	1035	c.872A>G	c.(871-873)cAg>cGg	p.Q291R	DACH2_ENST00000373125.4_Missense_Mutation_p.Q304R|DACH2_ENST00000510272.1_Missense_Mutation_p.Q85R|DACH2_ENST00000508860.1_Missense_Mutation_p.Q137R	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CCACTGCAGCAGAACCACCTG	0.507000													12	12					0	0	1	0	0
TRIM21	6737	broad.mit.edu	37	11	4406953	4406953	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:4406953C>A	ENST00000254436.7	-	7	1102	c.990G>T	c.(988-990)atG>atT	p.M330I	TRIM21_ENST00000543625.1_Missense_Mutation_p.M330I	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	330	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CACCCAGGACCATAGGATAAC	0.507000													6	27					0.00116845	0.00122611	1	1	0
CENPL	91687	broad.mit.edu	37	1	173772246	173772246	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:173772246C>A	ENST00000356198.2	-	6	1241	c.956G>T	c.(955-957)gGg>gTg	p.G319V	CENPL_ENST00000345664.6_Missense_Mutation_p.G273V|CENPL_ENST00000367710.3_Missense_Mutation_p.G273V	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	273					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						GGTAACCTCCCCAGGTGTTTT	0.423000													22	162					2.54575e-18	4.22556e-18	1	1	0
CCT8L2	150160	broad.mit.edu	37	22	17072115	17072115	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr22:17072115G>T	ENST00000359963.3	-	1	1585	c.1326C>A	c.(1324-1326)gcC>gcA	p.A442A		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	442					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCAGGGCCCAGGCAAATGCTA	0.512000													42	163					3.09479e-21	5.34554e-21	1	1	0
DARC	2532	broad.mit.edu	37	1	159176188	159176188	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:159176188C>A	ENST00000537147.1	+	3	1802	c.959C>A	c.(958-960)cCc>cAc	p.P320H	DARC_ENST00000368122.2_Missense_Mutation_p.P320H|DARC_ENST00000368121.2_Missense_Mutation_p.P322H			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	320					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CCCTCTCTGCCCCTCCCTGAA	0.557000													46	516					4.64027e-19	7.83319e-19	1	1	0
OR5D16	390144	broad.mit.edu	37	11	55606761	55606761	+	Silent	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:55606761T>C	ENST00000378396.1	+	1	534	c.534T>C	c.(532-534)caT>caC	p.H178H		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CAATCAATCATTTCTTCTGTG	0.423000													31	139					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576588	33576588	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:33576588T>A	ENST00000504830.1	-	19	3878	c.3543A>T	c.(3541-3543)agA>agT	p.R1181S	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R1096S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1181	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTCCAGGTACTCTGATCTTGG	0.498000										HNSCC(64;0.19)			17	275					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26508071	26508071	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:26508071C>G	ENST00000376261.3	+	4	889	c.386C>G	c.(385-387)tCa>tGa	p.S129*	GAD2_ENST00000259271.3_Nonsense_Mutation_p.S129*|GAD2_ENST00000376248.1_Nonsense_Mutation_p.S15*	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	129					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TTCGATAGATCAACCAAAGTG	0.403000													18	178					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97919645	97919645	+	RNA	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:97919645C>A	ENST00000534948.1	+	0	4423							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GAGCCAGAATCTAGAGATGCC	0.403000													49	124					4.64027e-19	7.83319e-19	1	1	0
ART5	116969	broad.mit.edu	37	11	3661405	3661405	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:3661405G>A	ENST00000397068.3	-	2	646	c.254C>T	c.(253-255)cCc>cTc	p.P85L	ART5_ENST00000359918.4_Missense_Mutation_p.P85L|ART5_ENST00000397067.3_Missense_Mutation_p.P85L	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	85						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAGCCAGGGGGCAAGGTAAG	0.592000													57	103					0	0	1	0	0
LEKR1	389170	broad.mit.edu	37	3	156763171	156763171	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:156763171C>T	ENST00000470811.1	+	14	2134	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	LEKR1_ENST00000356539.4_Missense_Mutation_p.R571C			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	82										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATGTGAAGAACGCTTTGAACT	0.438000													20	115					0	0	1	0	0
ICOS	29851	broad.mit.edu	37	2	204820473	204820473	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:204820473G>T	ENST00000316386.6	+	2	240	c.173G>T	c.(172-174)gGg>gTg	p.G58V	ICOS_ENST00000435193.1_Missense_Mutation_p.G58V	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	58	Ig-like V-type.				immune response|T cell costimulation	extracellular region				breast(1)|large_intestine(1)|lung(4)	6						TTGCTGAAAGGGGGGCAAATA	0.383000													45	205					4.67007e-22	8.11356e-22	1	1	0
ANO3	63982	broad.mit.edu	37	11	26669338	26669338	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:26669338C>A	ENST00000256737.3	+	24	3363	c.2511C>A	c.(2509-2511)taC>taA	p.Y837*	ANO3_ENST00000525139.1_Nonsense_Mutation_p.Y821*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.Y821*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.Y691*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	837						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CTTCTGATTACATCCCACGTT	0.348000													32	92					1.88708e-17	3.08638e-17	1	1	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76877698	76877698	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:76877698G>T	ENST00000328299.3	+	3	367	c.219G>T	c.(217-219)ttG>ttT	p.L73F	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	73					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TTCAGCCTTTGCAACTGGACT	0.383000													16	125					9.16793e-09	1.1679e-08	1	1	0
HGF	3082	broad.mit.edu	37	7	81350158	81350158	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:81350158A>G	ENST00000222390.5	-	10	1400	c.1174T>C	c.(1174-1176)Tat>Cat	p.Y392H	HGF_ENST00000457544.2_Missense_Mutation_p.Y387H	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	392	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TTCCCACGATAACAATCTAGA	0.333000													10	75					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518600	113518600	+	Silent	SNP	T	T	C	rs142590001	byFrequency	TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:113518600T>C	ENST00000284601.3	-	4	2615	c.2547A>G	c.(2545-2547)tcA>tcG	p.S849S		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	849					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TAATGACCCATGAGGATTCTT	0.368000													21	324					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237798188	237798188	+	Splice_Site	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:237798188G>A	ENST00000366574.2	+	44	7005		c.e44-1		RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						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)			TGAATTAATAGCCTCCCCAGC	0.388000													5	13					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507212	155507212	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:155507212T>A	ENST00000302053.3	-	5	1447	c.1369A>T	c.(1369-1371)Acg>Tcg	p.T457S	FGA_ENST00000403106.3_Missense_Mutation_p.T457S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	457					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)	GAACGACGCGTGGTGGTTGTG	0.458000													50	353					0	0	1	0	0
CLN8	2055	broad.mit.edu	37	8	1728532	1728532	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:1728532C>G	ENST00000331222.4	+	3	907	c.660C>G	c.(658-660)gaC>gaG	p.D220E	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	220	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane		p.D220E(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		GGCACTGGGACGGCCTGGTCA	0.493000													10	161					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96515883	96515883	+	Splice_Site	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr13:96515883C>A	ENST00000376747.3	-	31	3714	c.3644_splice	c.e31+1	p.S1215_splice		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1215					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						TAGTAATTACCTTTTAATGGA	0.338000													34	144					3.86903e-22	6.73498e-22	1	1	0
KIAA1429	25962	broad.mit.edu	37	8	95547224	95547224	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:95547224A>T	ENST00000297591.5	-	5	402	c.327T>A	c.(325-327)gaT>gaA	p.D109E	KIAA1429_ENST00000421249.2_Missense_Mutation_p.D109E|KIAA1429_ENST00000437199.1_Missense_Mutation_p.D109E	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	109					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GCACCAGACCATCAGTATTCA	0.403000													25	135					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28443874	28443874	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:28443874C>A	ENST00000261609.7	-	49	7866	c.7758G>T	c.(7756-7758)gtG>gtT	p.V2586V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2586					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CACCTTCGCACACTTCTTCAT	0.473000													19	226					1.96292e-10	2.61235e-10	1	1	0
INHBC	3626	broad.mit.edu	37	12	57843251	57843251	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:57843251C>G	ENST00000309668.2	+	2	632	c.505C>G	c.(505-507)Ctg>Gtg	p.L169V	INHBC_ENST00000550133.1_Missense_Mutation_p.L169V	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	169					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						TACTCAGTACCTGCTGGAGGT	0.562000													136	155					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158390541	158390541	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:158390541C>A	ENST00000243349.7	-	9	1731	c.1371G>T	c.(1369-1371)atG>atT	p.M457I	ACVR1C_ENST00000409680.3_Missense_Mutation_p.M407I|ACVR1C_ENST00000335450.7_Missense_Mutation_p.M377I|ACVR1C_ENST00000348328.5_Missense_Mutation_p.M300I	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	457	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TTATTCTCCCCATGACTCGGA	0.403000													24	103					6.44725e-10	8.49173e-10	1	1	0
ZNF257	113835	broad.mit.edu	37	19	22272170	22272170	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:22272170G>T	ENST00000594947.1	+	4	1762	c.1618G>T	c.(1618-1620)Gag>Tag	p.E540*		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCATGCTGGAGAGAACCCCAA	0.368000													18	49					1.67942e-08	2.12425e-08	1	1	0
SERPINB4	6318	broad.mit.edu	37	18	61305192	61305192	+	Missense_Mutation	SNP	C	C	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr18:61305192C>G	ENST00000341074.5	-	8	1049	c.934G>C	c.(934-936)Gca>Cca	p.A312P	SERPINB4_ENST00000356424.6_Missense_Mutation_p.A260P	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4									p.A312T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GAGAGGTCTGCATCCCCATTG	0.498000													23	181					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756360	94756360	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:94756360C>T	ENST00000554723.1	-	2	1109	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	SERPINA10_ENST00000554173.1_Missense_Mutation_p.V191M|SERPINA10_ENST00000393096.1_Missense_Mutation_p.V191M|SERPINA10_ENST00000261994.4_Missense_Mutation_p.V191M			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	191					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TTCATAGGCACGCACTCTGTA	0.418000													25	188					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128486491	128486491	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:128486491G>A	ENST00000325888.8	+	23	4362	c.4101G>A	c.(4099-4101)aaG>aaA	p.K1367K	FLNC_ENST00000346177.6_Silent_p.K1367K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1367					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGGTCAACAAGGCCAACCGAT	0.637000													29	113					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55087494	55087494	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:55087494G>T	ENST00000251377.3	+	7	1306	c.1173G>T	c.(1171-1173)ggG>ggT	p.G391G	LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.G379G|LILRA2_ENST00000391738.3_Silent_p.G391G|LILRA2_ENST00000251376.3_Silent_p.G391G|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCACGTGGGGACCTACAGAT	0.612000													84	198					1.45978e-39	2.84005e-39	1	1	0
MEGF10	84466	broad.mit.edu	37	5	126753421	126753421	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:126753421G>T	ENST00000274473.6	+	11	1489	c.1222G>T	c.(1222-1224)Gct>Tct	p.A408S	MEGF10_ENST00000418761.2_Missense_Mutation_p.A408S|MEGF10_ENST00000503335.2_Missense_Mutation_p.A408S|MEGF10_ENST00000508365.1_Missense_Mutation_p.A408S	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	408	EGF-like 7.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTACGGGGAAGCTTGCCAGCA	0.552000													23	86					1.10513e-12	1.60469e-12	1	1	0
DACH2	117154	broad.mit.edu	37	X	86069769	86069769	+	Missense_Mutation	SNP	G	G	T	rs143491219		TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:86069769G>T	ENST00000373131.1	+	9	1740	c.1577G>T	c.(1576-1578)cGc>cTc	p.R526L	DACH2_ENST00000477378.2_Intron|DACH2_ENST00000373125.4_Missense_Mutation_p.R539L|DACH2_ENST00000510272.1_Missense_Mutation_p.R320L|DACH2_ENST00000508860.1_Missense_Mutation_p.R372L	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	539	DACHbox-C.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.R526L(1)|p.R539L(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GAATCAAAGCGCCGGGAGCAA	0.438000													22	35					7.45023e-12	1.03954e-11	1	1	0
GABRB3	2562	broad.mit.edu	37	15	26825468	26825468	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:26825468G>T	ENST00000541819.2	-	7	950	c.848C>A	c.(847-849)aCa>aAa	p.T283K	GABRB3_ENST00000400188.3_Missense_Mutation_p.T156K|GABRB3_ENST00000311550.5_Missense_Mutation_p.T227K|GABRB3_ENST00000299267.4_Missense_Mutation_p.T227K|GABRB3_ENST00000545868.1_Missense_Mutation_p.T142K			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	227					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGACTCACCTGTGGCGAAGAC	0.567000													17	107					3.52763e-06	4.09114e-06	1	1	0
KCNH5	27133	broad.mit.edu	37	14	63174777	63174777	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr14:63174777C>A	ENST00000322893.7	-	11	2684	c.2416G>T	c.(2416-2418)Gga>Tga	p.G806*	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	806					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)		TTTCCATTTCCATTCTTCATT	0.458000													33	206					4.3181e-19	7.31701e-19	1	1	0
MYO5C	55930	broad.mit.edu	37	15	52527960	52527960	+	Splice_Site	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:52527960T>A	ENST00000261839.7	-	23	3030	c.2868_splice	c.e23-1	p.K957_splice	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	957						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTTGCCAATTTCTAGCAGAGG	0.358000													12	99					0	0	1	0	0
TUBA3D	113457	broad.mit.edu	37	2	132240273	132240273	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:132240273G>A	ENST00000321253.6	+	5	1312	c.1205G>A	c.(1204-1206)cGg>cAg	p.R402Q		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	402					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.R402L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TATGCCAAGCGGGCCTTTGTG	0.607000													37	371					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55755429	55755429	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:55755429C>A	ENST00000373965.2	-	22	3263	c.2869G>T	c.(2869-2871)Gct>Tct	p.A957S	PCDH15_ENST00000414778.1_Missense_Mutation_p.A955S|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.A879S|PCDH15_ENST00000409834.1_Missense_Mutation_p.A561S|PCDH15_ENST00000373955.1_Missense_Mutation_p.A950S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.A950S|PCDH15_ENST00000395433.1_Missense_Mutation_p.A928S|PCDH15_ENST00000395445.1_Missense_Mutation_p.A957S|PCDH15_ENST00000361849.3_Missense_Mutation_p.A950S|PCDH15_ENST00000395432.2_Missense_Mutation_p.A913S|PCDH15_ENST00000395430.1_Missense_Mutation_p.A950S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.A950S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	950	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			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)				GCATCTTCAGCATAAACTGTT	0.398000										HNSCC(58;0.16)			12	121					2.27111e-07	2.78203e-07	1	1	0
PDZRN3	23024	broad.mit.edu	37	3	73432531	73432531	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:73432531C>A	ENST00000263666.4	-	10	3300	c.3186G>T	c.(3184-3186)tcG>tcT	p.S1062S	PDZRN3_ENST00000535920.1_Silent_p.S784S|PDZRN3_ENST00000466780.1_Silent_p.S719S|PDZRN3_ENST00000479530.1_Silent_p.S779S|PDZRN3_ENST00000462146.2_Silent_p.S719S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1062							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CAGTAGTCACCGATAGGAAGG	0.428000													98	170					8.84886e-50	1.74824e-49	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			19	39					4.63292e-17	7.52218e-17	1	1	0
ENPP7	339221	broad.mit.edu	37	17	77710998	77710998	+	Silent	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:77710998G>A	ENST00000328313.5	+	4	1406	c.1185G>A	c.(1183-1185)ctG>ctA	p.L395L		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	395					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCCGGCTGCTGGGCATCGTGC	0.652000													6	82					0	0	1	0	0
CD300A	11314	broad.mit.edu	37	17	72469995	72469995	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:72469995G>T	ENST00000360141.3	+	2	649	c.361G>T	c.(361-363)Gag>Tag	p.E121*	CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000392625.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	121	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TGTCGAGGTTGAGGTGTCCGT	0.562000													9	125					9.31168e-06	1.05928e-05	1	1	0
PGLYRP2	114770	broad.mit.edu	37	19	15579525	15579525	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:15579525T>A	ENST00000340880.4	-	5	2160	c.1680A>T	c.(1678-1680)agA>agT	p.R560S	PGLYRP2_ENST00000292609.4_3'UTR	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	560					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CCCTCCTGGATCTCTTAGAGA	0.532000													14	77					0	0	1	0	0
LCE5A	254910	broad.mit.edu	37	1	152484341	152484341	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:152484341T>A	ENST00000334269.2	+	2	507	c.331T>A	c.(331-333)Tgc>Agc	p.C111S		NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	111	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGGCTGCTGCCACAGCTC	0.652000													8	60					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649543	20649543	+	RNA	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:20649543G>T	ENST00000428453.1	-	0	2655																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AGCTCTGCCAGCTTGAGGTCG	0.577000													83	152					2.84431e-33	5.42728e-33	1	1	0
TMEM139	135932	broad.mit.edu	37	7	142983158	142983158	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:142983158C>A	ENST00000359333.3	+	2	621	c.108C>A	c.(106-108)acC>acA	p.T36T	TMEM139_ENST00000409541.1_Silent_p.T36T|TMEM139_ENST00000471161.1_Intron|TMEM139_ENST00000409102.1_Silent_p.T36T|AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000410004.1_Silent_p.T36T|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000409244.1_Silent_p.T36T	NM_001242775.1	NP_001229704.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	36						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					CGGACATCACCCCCGTTGCTT	0.547000													37	258					1.59361e-14	2.40387e-14	1	1	0
UBE2U	148581	broad.mit.edu	37	1	64671358	64671358	+	Missense_Mutation	SNP	G	G	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:64671358G>A	ENST00000371077.4	+	2	527	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	UBE2U_ENST00000371076.3_Missense_Mutation_p.E35K			Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	35							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						AGATATGATGGAATGGGAAGT	0.279000													18	114					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102266269	102266269	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr6:102266269G>T	ENST00000369138.1	+	9	1718	c.1228G>T	c.(1228-1230)Ggc>Tgc	p.G410C	GRIK2_ENST00000369134.4_Missense_Mutation_p.G361C|GRIK2_ENST00000421544.1_Missense_Mutation_p.G410C|GRIK2_ENST00000318991.6_Missense_Mutation_p.G410C|GRIK2_ENST00000369137.3_Missense_Mutation_p.G410C|GRIK2_ENST00000413795.1_Missense_Mutation_p.G410C	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	410					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TCCAGCCAGTGGCCTGAATAT	0.393000													12	71					4.3838e-07	5.29734e-07	1	1	0
IGLV3-9	28804	broad.mit.edu	37	22	23162060	23162060	+	RNA	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr22:23162060G>T	ENST00000390316.2	+	0	268																											GTAAAAATGTGCACTGGTACC	0.567000													23	98					6.21321e-17	1.00152e-16	1	1	0
PDE1A	5136	broad.mit.edu	37	2	183387042	183387042	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:183387042C>A	ENST00000435564.1	-	1	262	c.62G>T	c.(61-63)gGa>gTa	p.G21V	PDE1A_ENST00000358139.2_Missense_Mutation_p.G21V|PDE1A_ENST00000456212.1_Missense_Mutation_p.G21V|PDE1A_ENST00000410103.1_Missense_Mutation_p.G21V|PDE1A_ENST00000331935.6_Missense_Mutation_p.G21V|PDE1A_ENST00000536095.1_5'UTR	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	21					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			AGTCTGTTCTCCTGTAAGATA	0.388000													29	135					1.13719e-10	1.52938e-10	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3238844	3238844	+	Missense_Mutation	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:3238844T>A	ENST00000217939.6	-	5	5036	c.4882A>T	c.(4882-4884)Agc>Tgc	p.S1628C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1628						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)				CTGGAAGCGCTTTGTGTGGAC	0.483000													113	134					0	0	1	0	0
MROH9	80133	broad.mit.edu	37	1	170967327	170967327	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:170967327C>T	ENST00000367759.4	+	15	1662	c.1508C>T	c.(1507-1509)cCg>cTg	p.P503L	MROH9_ENST00000367758.3_Missense_Mutation_p.P503L	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		CCACAGTTTCCGGAGACCCTG	0.393000													43	146					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77620141	77620141	+	Missense_Mutation	SNP	A	A	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:77620141A>G	ENST00000521891.2	+	3	3399	c.2951A>G	c.(2950-2952)aAt>aGt	p.N984S	ZFHX4_ENST00000518282.1_Missense_Mutation_p.N958S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N958S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.N958S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	958						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGCAAAAGCAATGAGTGGAGG	0.428000										HNSCC(33;0.089)			20	185					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55144057	55144057	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:55144057C>A	ENST00000396331.1	+	7	1161	c.804C>A	c.(802-804)ctC>ctA	p.L268L	LILRB1_ENST00000434867.2_Silent_p.L268L|LILRB1_ENST00000448689.1_Silent_p.L268L|LILRB1_ENST00000396317.1_Silent_p.L268L|LILRB1_ENST00000427581.2_Silent_p.L304L|LILRB1_ENST00000324602.7_Silent_p.L268L|LILRB1_ENST00000396327.3_Silent_p.L268L|LILRB1_ENST00000396332.4_Silent_p.L268L|LILRB1_ENST00000396321.2_Silent_p.L268L|LILRB1_ENST00000396315.1_Silent_p.L268L|LILRB1_ENST00000418536.2_Silent_p.L268L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	268	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCCTTCAGCTCGCTGGCGCAC	0.612000										HNSCC(37;0.09)			38	194					1.42033e-22	2.49676e-22	1	1	0
SMAD4	4089	broad.mit.edu	37	18	48573650	48573650	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr18:48573650G>T	ENST00000342988.3	+	2	772	c.234G>T	c.(232-234)ttG>ttT	p.L78F	SMAD4_ENST00000452201.2_Missense_Mutation_p.L78F|SMAD4_ENST00000398417.2_Missense_Mutation_p.L78F|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.L78F	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	78	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(5)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AGAGAACATTGGATGGGAGGC	0.368000													40	177					6.5261e-18	1.07723e-17	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77617482	77617482	+	Missense_Mutation	SNP	A	A	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr8:77617482A>T	ENST00000521891.2	+	2	1607	c.1159A>T	c.(1159-1161)Agc>Tgc	p.S387C	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S387C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S387C|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S387C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	387						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGAAGCGCGAGCACCTCGAG	0.527000										HNSCC(33;0.089)			11	95					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71420156	71420156	+	Silent	SNP	G	G	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:71420156G>C	ENST00000392650.3	-	13	1659	c.1659C>G	c.(1657-1659)tcC>tcG	p.S553S	SDK2_ENST00000388726.3_Silent_p.S553S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	553	Ig-like C2-type 6.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGATGTGCAGGGAGCCGTTTC	0.597000													9	17					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578460	9578460	+	Missense_Mutation	SNP	G	G	A	rs146030501	byFrequency	TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr19:9578460G>A	ENST00000301480.4	-	10	1376	c.1163C>T	c.(1162-1164)cCg>cTg	p.P388L		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AAAGCCTGACGGCACAGTGAA	0.423000													34	208					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12905990	12905990	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:12905990C>A	ENST00000380659.3	+	3	2502	c.2363C>A	c.(2362-2364)aCc>aAc	p.T788N		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	788					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TTTCTGTGCACCTGTGATGCT	0.463000													52	72					2.27781e-18	3.78787e-18	1	1	0
PDE6C	5146	broad.mit.edu	37	10	95389038	95389038	+	Silent	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:95389038T>C	ENST00000371447.3	+	8	1233	c.1095T>C	c.(1093-1095)ccT>ccC	p.P365P		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	365	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TGAATGCCCCTGCGGATGAAT	0.498000													60	183					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52646081	52646081	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:52646081C>A	ENST00000399231.3	-	26	3797	c.3554G>T	c.(3553-3555)cGc>cTc	p.R1185L	MYO5A_ENST00000553916.1_Missense_Mutation_p.R1185L|MYO5A_ENST00000358212.6_Missense_Mutation_p.R1185L|MYO5A_ENST00000399233.2_Missense_Mutation_p.R1185L|MYO5A_ENST00000356338.6_Missense_Mutation_p.R1185L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1185					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GGCCTTGCTGCGGAGCACCTG	0.577000													66	129					6.1719e-39	1.19815e-38	1	1	0
ZBP1	81030	broad.mit.edu	37	20	56179654	56179654	+	Missense_Mutation	SNP	C	C	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:56179654C>T	ENST00000340462.4	-	7	1476	c.1196G>A	c.(1195-1197)gGg>gAg	p.G399E	ZBP1_ENST00000395822.3_Missense_Mutation_p.G347E|ZBP1_ENST00000371173.3_Missense_Mutation_p.G422E			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	422						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CCACCAGCTCCCCTCGTGTGA	0.587000													13	125					0	0	1	0	0
PDLIM7	9260	broad.mit.edu	37	5	176916490	176916490	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:176916490C>A	ENST00000355841.2	-	9	839	c.773G>T	c.(772-774)cGc>cTc	p.R258L	PDLIM7_ENST00000356618.4_Silent_p.P237P|PDLIM7_ENST00000359895.2_Missense_Mutation_p.R224L|PDLIM7_ENST00000393551.1_Silent_p.P237P	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	258					cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATGGAGGTGCGGCTCTGCAG	0.677000													3	13					0.115264	0.116834	1	1	0
ANK3	288	broad.mit.edu	37	10	61822944	61822944	+	Missense_Mutation	SNP	T	T	C			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:61822944T>C	ENST00000280772.1	-	40	12711	c.12520A>G	c.(12520-12522)Ata>Gta	p.I4174V	ANK3_ENST00000355288.2_Missense_Mutation_p.I695V|ANK3_ENST00000503366.1_Missense_Mutation_p.I1562V|ANK3_ENST00000373827.2_Missense_Mutation_p.I1555V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4174	Death.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TAATCAAATATTGGTCCTTCT	0.348000													11	65					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34149145	34149145	+	Splice_Site	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:34149145G>T	ENST00000257829.3	+	12	1449	c.1244_splice	c.e12+1	p.G415_splice	NAT10_ENST00000531159.2_Splice_Site_p.G343_splice|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	415						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CACCATCAATGGGTAAGGTAC	0.557000													14	164					0.0202918	0.0209003	1	1	0
PTCHD3	374308	broad.mit.edu	37	10	27702746	27702746	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:27702746G>T	ENST00000438700.3	-	1	551	c.434C>A	c.(433-435)cCc>cAc	p.P145H		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	145					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAGCATCAAGGGCGCCAGCAG	0.667000													30	148					3.73148e-12	5.26415e-12	1	1	0
ZNF385D	79750	broad.mit.edu	37	3	21478697	21478697	+	Splice_Site	SNP	T	T	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr3:21478697T>A	ENST00000281523.2	-	5	958		c.e5-2		ZNF385D_ENST00000494118.1_Splice_Site	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D							nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CAGTACCGTCTGTATTCAAAA	0.373000													45	77					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7063962	7063962	+	Missense_Mutation	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:7063962G>T	ENST00000299481.4	+	4	1051	c.705G>T	c.(703-705)aaG>aaT	p.K235N		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	235	NACHT.				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)		TGATATCAAAGGACTGGCCCA	0.418000													52	204					2.69774e-35	5.20321e-35	1	1	0
AFG3L2	10939	broad.mit.edu	37	18	12367022	12367022	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr18:12367022C>A	ENST00000269143.3	-	5	725	c.494G>T	c.(493-495)aGa>aTa	p.R165I		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	165					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	TCTCCCGGATCTCTTGAGCAG	0.453000													19	186					3.99206e-14	5.98139e-14	1	1	0
HECW1	23072	broad.mit.edu	37	7	43483875	43483875	+	Silent	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:43483875C>A	ENST00000395891.1	+	11	1709	c.1104C>A	c.(1102-1104)ccC>ccA	p.P368P	HECW1_ENST00000453890.1_Silent_p.P368P	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	368					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGGACAGCCCCATGAACAACC	0.537000													20	77					8.10497e-08	1.01086e-07	1	1	0
MKRN3	7681	broad.mit.edu	37	15	23811096	23811096	+	Missense_Mutation	SNP	C	C	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr15:23811096C>A	ENST00000314520.3	+	1	643	c.167C>A	c.(166-168)gCc>gAc	p.A56D	MKRN3_ENST00000568252.1_Missense_Mutation_p.A56D|MKRN3_ENST00000564592.1_Missense_Mutation_p.A56D	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	56						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGGGGCTGGGCCCCCTTCCCT	0.687000													7	71					0.248553	0.249671	1	1	0
SSTR4	6754	broad.mit.edu	37	20	23016606	23016606	+	Silent	SNP	G	G	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:23016606G>T	ENST00000255008.3	+	1	550	c.486G>T	c.(484-486)gtG>gtT	p.V162V	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	162					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCCCAGCGTGGCCAAGCTCA	0.677000													16	144					1.5739e-10	2.11352e-10	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16892905	16892905	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:16892905delG	ENST00000430580.2	-	26	3776	c.2889delC	c.(2887-2889)ccfs	p.P963fs		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	963	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AAAGTTACCTGGGGCATGATG	0.413													19	1031	---	---	---	---					
LOC102723924	102723924	broad.mit.edu	37	1	41730645	41730646	+	RNA	DEL	TT	TT	-	rs35691145		TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:41730645_41730646delTT	ENST00000445073.1	+	0	132																											TCTGAGCTGCtttttttttttt	0.475													3	5	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs67257307		TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													9	14	---	---	---	---					
AC011747.6	0	broad.mit.edu	37	2	8743629	8743629	+	RNA	DEL	A	A	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:8743629delA	ENST00000425678.1	-	0	439																											TGTTTGTACTAAAAAAAAAAA	0.289													4	4	---	---	---	---					
CEBPZ	10153	broad.mit.edu	37	2	37454908	37454908	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:37454908delT	ENST00000234170.5	-	2	1573	c.1428delA	c.(1426-1428)aafs	p.K476fs		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	476					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATTCAACATCTTTTTTTTTGA	0.368													9	124	---	---	---	---					
SLC8A1	6546	broad.mit.edu	37	2	40657235	40657235	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:40657235delG	ENST00000406785.1	-	2	375	c.186delC	c.(184-186)ccfs	p.P62fs	SLC8A1_ENST00000405901.3_Frame_Shift_Del_p.P62fs|SLC8A1_ENST00000406391.2_Frame_Shift_Del_p.P62fs|SLC8A1_ENST00000402441.1_Frame_Shift_Del_p.P62fs|SLC8A1_ENST00000408028.2_Frame_Shift_Del_p.P62fs|SLC8A1_ENST00000542024.1_Frame_Shift_Del_p.P62fs|SLC8A1_ENST00000403092.1_Frame_Shift_Del_p.P62fs|SLC8A1_ENST00000405269.1_Frame_Shift_Del_p.P62fs|SLC8A1_ENST00000542756.1_Frame_Shift_Del_p.P62fs|SLC8A1_ENST00000332839.4_Frame_Shift_Del_p.P62fs			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	62					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTTCCCAAATGGGCAAAATCA	0.418													37	229	---	---	---	---					
CCDC88A	55704	broad.mit.edu	37	2	55582851	55582851	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:55582851delG	ENST00000436346.1	-	8	1505	c.664delC	c.(664-666)atfs	p.H222fs	CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.H222fs|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.H222fs|CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.H222fs	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	222					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GGTAGAAAATGGAGACCATCC	0.443													19	105	---	---	---	---					
SCN2A	6326	broad.mit.edu	37	2	166179749	166179749	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:166179749delG	ENST00000375437.2	+	12	2045	c.1755delG	c.(1753-1755)aafs	p.K585fs	SCN2A_ENST00000283256.6_Frame_Shift_Del_p.K585fs|SCN2A_ENST00000357398.3_Frame_Shift_Del_p.K585fs|SCN2A_ENST00000375427.2_Frame_Shift_Del_p.K585fs	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	585					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GTCGAGCAAAGGACATTGGCT	0.502													9	127	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168101717	168101732	+	Frame_Shift_Del	DEL	TAAGAAAGGGGTGCTT	TAAGAAAGGGGTGCTT	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:168101717_168101732delTAAGAAAGGGGTGCTT	ENST00000409195.1	+	9	3904_3919	c.3815_3830delTAAGAAAGGGGTGCTT	c.(3814-3831)gtfs	p.VRKGCF1272fs	XIRP2_ENST00000409273.1_Frame_Shift_Del_p.VRKGCF1050fs|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Del_p.VRKGCF1272fs|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1097					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGTGGGGATGTAAGAAAGGGGTGCTTTATTTTTGAG	0.352													7	309	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168104577	168104577	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:168104577delG	ENST00000409195.1	+	9	6764	c.6675delG	c.(6673-6675)atfs	p.M2225fs	XIRP2_ENST00000409273.1_Frame_Shift_Del_p.M2003fs|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Del_p.M2225fs|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2050					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAACAGAAATGAAAGTCTCTG	0.338													18	138	---	---	---	---					
IRS1	3667	broad.mit.edu	37	2	227661215	227661216	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:227661215_227661216insA	ENST00000305123.4	-	1	3259_3260	c.2239_2240insT	c.(2239-2241)cgafs	p.R747fs		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	747					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTAGCAGTCGGAGGGGCTGCTG	0.604													61	505	---	---	---	---					
OTOS	150677	broad.mit.edu	37	2	241078687	241078688	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr2:241078687_241078688insG	ENST00000391989.2	-	5	399_400	c.169_170insC	c.(169-171)gggfs	p.G57fs	OTOS_ENST00000319460.1_Frame_Shift_Ins_p.G57fs			Q8NHW6	OTOSP_HUMAN	otospiralin	57						extracellular region				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GTAGGCCCCCAGGGCCTGGAAG	0.604													43	200	---	---	---	---					
LRRC66	339977	broad.mit.edu	37	4	52862215	52862216	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:52862215_52862216insA	ENST00000343457.3	-	4	978_979	c.972_973insT	c.(970-975)ccagggfs	p.G325fs		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	325						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTTCCTCCCTGGGGCCTCTCTG	0.574													20	88	---	---	---	---					
SGCB	6443	broad.mit.edu	37	4	52894182	52894183	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:52894182_52894183insA	ENST00000381431.5	-	5	926_927	c.704_705insT	c.(703-705)aggfs	p.R235fs	SGCB_ENST00000535450.1_Frame_Shift_Ins_p.R165fs	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	235	Cys-rich.				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TGGTTTTGCCCATAATGAATAC	0.347													22	184	---	---	---	---					
ADAM29	11086	broad.mit.edu	37	4	175898619	175898619	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr4:175898619delG	ENST00000359240.3	+	5	2613	c.1943delG	c.(1942-1944)tgfs	p.W648fs	ADAM29_ENST00000514159.1_Frame_Shift_Del_p.W648fs|ADAM29_ENST00000404450.4_Frame_Shift_Del_p.W648fs|ADAM29_ENST00000445694.1_Frame_Shift_Del_p.W648fs	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	648	EGF-like.				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)		AATTATCTGTGGGACCCTCCC	0.423													29	125	---	---	---	---					
PARP8	79668	broad.mit.edu	37	5	50090715	50090715	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:50090715delG	ENST00000281631.5	+	12	1050	c.892delG	c.(892-894)gcfs	p.G298fs	PARP8_ENST00000505697.2_Frame_Shift_Del_p.G298fs|PARP8_ENST00000514067.2_Frame_Shift_Del_p.G298fs|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Frame_Shift_Del_p.G51fs|PARP8_ENST00000505554.1_Frame_Shift_Del_p.G277fs|PARP8_ENST00000503750.2_Frame_Shift_Del_p.G298fs	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	298						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CCCTGGTTGTGGCAAAAGCAA	0.458													24	99	---	---	---	---					
ISOC1	51015	broad.mit.edu	37	5	128442702	128442703	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr5:128442702_128442703insT	ENST00000173527.5	+	4	713_714	c.697_698insT	c.(697-699)tgcfs	p.C233fs		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	233						peroxisome	catalytic activity			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		GGTTCACATTGTTGCTGATGCC	0.431													31	69	---	---	---	---					
THSD7A	221981	broad.mit.edu	37	7	11418736	11418737	+	Frame_Shift_Ins	INS	-	-	TGCTG			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:11418736_11418737insTGCTG	ENST00000423059.3	-	26	5012_5013	c.4761_4762insCAGCA	c.(4759-4764)gcgacgfs	p.T1588fs	AC004538.3_ENST00000595972.1_RNA|AC004538.3_ENST00000445839.1_RNA|AC004538.3_ENST00000421121.1_RNA|AC004538.3_ENST00000428967.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1588						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTTCCCCGTCCTGCTGGGTTAC	0.500										HNSCC(18;0.044)			14	119	---	---	---	---					
COPS6	10980	broad.mit.edu	37	7	99688224	99688226	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:99688224_99688226delATC	ENST00000303904.3	+	5	470_472	c.433_435delATC	c.(433-435)del	p.I146del	COPS6_ENST00000418625.1_In_Frame_Del_p.I145del	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	146	MPN.				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GGTGTGTGAGATCATCGAGAGCC	0.502													15	145	---	---	---	---					
TRBV11-1	28582	broad.mit.edu	37	7	142224120	142224121	+	RNA	INS	-	-	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:142224120_142224121insT	ENST00000390367.3	-	0	66																											TGAGAGTTCTGTTGGGGAAAAA	0.426													8	96	---	---	---	---					
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs149832120	by1000genomes	TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101																											GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457													6	13	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr7:142482025delA	ENST00000603901.1	+	0	591					NR_001296.3																						TGCAGTGCCCACATGGAGAAG	0.572													7	39	---	---	---	---					
APBB1IP	54518	broad.mit.edu	37	10	26781303	26781303	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:26781303delG	ENST00000376236.4	+	3	503	c.48delG	c.(46-48)ctfs	p.L16fs	APBB1IP_ENST00000356785.4_Frame_Shift_Del_p.L16fs	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	16					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GCACTTTGCTGGGAGAGATGG	0.383													12	202	---	---	---	---					
MCU	90550	broad.mit.edu	37	10	74618994	74618995	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:74618994_74618995insT	ENST00000536019.1	+	3	578_579	c.133_134insT	c.(133-135)tgafs	p.*45fs	MCU_ENST00000373053.3_Frame_Shift_Ins_p.*94fs|MCU_ENST00000357157.6_Frame_Shift_Ins_p.*94fs	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	94					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						ACCATCCCGGCGTGAACGCTGT	0.426													106	221	---	---	---	---					
SORCS3	22986	broad.mit.edu	37	10	106970917	106970917	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr10:106970917delG	ENST00000369701.3	+	17	2511	c.2284delG	c.(2284-2286)ggfs	p.G762fs	SORCS3_ENST00000369699.4_Frame_Shift_Del_p.G48fs	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	762						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGAGAGACATGGGGAGAGCCA	0.438													26	69	---	---	---	---					
RPS6KA4	8986	broad.mit.edu	37	11	64137852	64137852	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:64137852delC	ENST00000528057.1	+	15	2020	c.1932delC	c.(1930-1932)gtfs	p.V644fs	RPS6KA4_ENST00000334205.4_Frame_Shift_Del_p.V651fs|RPS6KA4_ENST00000294261.4_Frame_Shift_Del_p.V403fs	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	651	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						AGGAGCTGGTCCGAGGTGCGG	0.652													15	125	---	---	---	---					
CTTN	2017	broad.mit.edu	37	11	70277324	70277324	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr11:70277324delC	ENST00000301843.8	+	15	1410	c.1204delC	c.(1204-1206)ccfs	p.P403fs	CTTN_ENST00000538675.1_Frame_Shift_Del_p.P87fs|CTTN_ENST00000376561.3_Frame_Shift_Del_p.P366fs|CTTN_ENST00000346329.3_Frame_Shift_Del_p.P366fs	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	403						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AACGCAAACGCCCCCTGTGTC	0.552													57	182	---	---	---	---					
ARNTL2	56938	broad.mit.edu	37	12	27573404	27573405	+	Frame_Shift_Ins	INS	-	-	AGAAGCAG			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:27573404_27573405insAGAAGCAG	ENST00000544915.1	+	16	1967_1968	c.1748_1749insAGAAGCAG	c.(1747-1749)tgafs	p.-583fs	ARNTL2_ENST00000395901.2_Frame_Shift_Ins_p.-580fs|ARNTL2_ENST00000311001.5_Frame_Shift_Ins_p.-603fs|ARNTL2_ENST00000546179.1_3'UTR|ARNTL2_ENST00000542388.1_Frame_Shift_Ins_p.-532fs|ARNTL2_ENST00000261178.5_Frame_Shift_Ins_p.-569fs|ARNTL2_ENST00000266503.5_Frame_Shift_Ins_p.-617fs|RP11-165P7.1_ENST00000500498.2_RNA	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2						circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					ATGAATTACTTAGAAGCAGAGG	0.446													31	175	---	---	---	---					
ADAMTS20	80070	broad.mit.edu	37	12	43826255	43826255	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:43826255delC	ENST00000389420.3	-	21	2947	c.2948delG	c.(2947-2949)gafs	p.G985fs	ADAMTS20_ENST00000553158.1_Frame_Shift_Del_p.G985fs|ADAMTS20_ENST00000395541.2_Frame_Shift_Del_p.G139fs	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	985	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCCCCTCCTCCACAACTCCT	0.363													40	90	---	---	---	---					
ANKS1B	56899	broad.mit.edu	37	12	99166883	99166883	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:99166883delG	ENST00000547776.2	-	24	3440	c.3441delC	c.(3439-3441)gcfs	p.A1147fs	ANKS1B_ENST00000546960.1_Frame_Shift_Del_p.A373fs|ANKS1B_ENST00000549493.2_Frame_Shift_Del_p.A397fs|ANKS1B_ENST00000341752.7_Frame_Shift_Del_p.A153fs|ANKS1B_ENST00000547010.1_Frame_Shift_Del_p.A663fs|ANKS1B_ENST00000546568.1_Frame_Shift_Del_p.A313fs|ANKS1B_ENST00000549025.2_Frame_Shift_Del_p.A245fs|ANKS1B_ENST00000333732.7_Frame_Shift_Del_p.A177fs|ANKS1B_ENST00000329257.7_Frame_Shift_Del_p.A1147fs|ANKS1B_ENST00000332712.7_Frame_Shift_Del_p.A337fs|ANKS1B_ENST00000549558.2_Frame_Shift_Del_p.A313fs|ANKS1B_ENST00000547446.1_Frame_Shift_Del_p.A282fs|ANKS1B_ENST00000550693.2_Frame_Shift_Del_p.A337fs	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1147	PID.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTGTGATATAGGCAAATGTTG	0.398													38	43	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133220099	133220100	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr12:133220099_133220100delCA	ENST00000320574.5	-	34	4380_4381	c.4337_4338delTG	c.(4336-4338)gfs	p.V1447fs	POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1447					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTTTATTGACCACACACACACA	0.604								DNA polymerases (catalytic subunits)					10	374	---	---	---	---					
MIR17HG	407975	broad.mit.edu	37	13	92002883	92002887	+	RNA	DEL	CAGTG	CAGTG	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr13:92002883_92002887delCAGTG	ENST00000385012.1	+	0	25_29					NR_029487.1																						AAAGTGCTTACAGTGCAGGTAGTGA	0.415													24	197	---	---	---	---					
HYDIN	54768	broad.mit.edu	37	16	70917924	70917924	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr16:70917924delC	ENST00000393567.2	-	59	10028	c.9878delG	c.(9877-9879)gafs	p.G3293fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3293										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTCACACTTTCCCATGGCGTC	0.557													17	64	---	---	---	---					
CACNG4	27092	broad.mit.edu	37	17	65026949	65026949	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr17:65026949delG	ENST00000262138.3	+	4	815	c.813delG	c.(811-813)atfs	p.M271fs		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	271					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CCATCCCCATGGGGGAGCTGT	0.677													7	132	---	---	---	---					
BPIFB2	80341	broad.mit.edu	37	20	31596489	31596489	+	Splice_Site	DEL	G	G	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:31596489delG	ENST00000170150.3	+	2	304	c.109_splice	c.e2+1	p.V37_splice		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	37						extracellular region	lipid binding										ATTGAGCTACGGTAAGCGGTG	0.592													6	11	---	---	---	---					
SLC2A10	81031	broad.mit.edu	37	20	45354963	45354963	+	Splice_Site	DEL	G	G	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:45354963delG	ENST00000359271.2	+	2	1538	c.1288_splice	c.e2+1	p.V430_splice		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	430						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GTTTGGGCCAGGTAAGTGGAG	0.607													9	60	---	---	---	---					
TCFL5	10732	broad.mit.edu	37	20	61488782	61488782	+	Frame_Shift_Del	DEL	A	A	-	rs150334799		TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:61488782delA	ENST00000335351.3	-	4	1295	c.1203delT	c.(1201-1203)cgfs	p.R402fs	TCFL5_ENST00000217162.5_Frame_Shift_Del_p.R354fs	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	402					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					GCCTCTCCCTACGTTGAGACC	0.537													40	256	---	---	---	---					
TCEA2	6919	broad.mit.edu	37	20	62697839	62697843	+	Frame_Shift_Del	DEL	TGGAT	TGGAT	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr20:62697839_62697843delTGGAT	ENST00000395053.3	+	2	238_242	c.83_87delTGGAT	c.(82-87)afs	p.MD28fs	TCEA2_ENST00000361317.2_Start_Codon_Del|TCEA2_ENST00000343484.5_Frame_Shift_Del_p.MD28fs|TCEA2_ENST00000465111.1_3'UTR			Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	28	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GAGGGAGCCATGGATTTGCTGCGGG	0.576													13	152	---	---	---	---					
AC008103.5	0	broad.mit.edu	37	22	18842473	18842473	+	RNA	DEL	G	G	-	rs66618606		TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chr22:18842473delG	ENST00000412938.1	+	0	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													7	10	---	---	---	---					
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													16	10	---	---	---	---					
TSPYL2	64061	broad.mit.edu	37	X	53115057	53115059	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-55-8302-01A-11D-2323-08	TCGA-55-8302-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26c8a32b-4698-46f3-9fc0-a19dfa051af1	a472dd5e-7ce9-409c-a54e-762e5500456f	g.chrX:53115057_53115059delAAC	ENST00000375442.4	+	6	1615_1617	c.1483_1485delAAC	c.(1483-1485)del	p.N496del		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	496	Asn-rich.				cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						gaccactgataacaacgagagtg	0.458													38	51	---	---	---	---					
