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
MC5R	4161	broad.mit.edu	37	18	13826231	13826231	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr18:13826231C>T	ENST00000324750.3	+	1	689	c.467C>T	c.(466-468)gCg>gTg	p.A156V		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	156					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ATCATGACGGCGAGGCGCTCA	0.577000													51	165					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													4	81					0	0	1	0	0
MRPS15	64960	broad.mit.edu	37	1	36929427	36929427	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:36929427C>T	ENST00000373116.5	-	2	316	c.155G>A	c.(154-156)gGa>gAa	p.G52E		NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	52				GGGSAKFPFNQWGLQPRSLLLQAARGYVVRKPAQSRLDDDP PPSTLLKDYQNV -> AVGAPSFLSTSGACSLEVSSSRPRA DMSSGNQPSLGWMMTHLLLRCSKTTRMS (in Ref. 2; AAG44697).	translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GACGACATATCCGCGCGCGGC	0.602000													3	28					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39922007	39922007	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chrX:39922007C>A	ENST00000342274.4	-	9	4425	c.4063G>T	c.(4063-4065)Gat>Tat	p.D1355Y	BCOR_ENST00000397354.3_Missense_Mutation_p.D1355Y|BCOR_ENST00000378444.4_Missense_Mutation_p.D1389Y|BCOR_ENST00000378455.4_Missense_Mutation_p.D1337Y|BCOR_ENST00000378463.1_Missense_Mutation_p.D232Y	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1389					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ACCTTGCCATCGGCATTCTCC	0.577000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						3	4					0.004672	0.00473268	1	1	0
ATG9A	79065	broad.mit.edu	37	2	220091655	220091655	+	Splice_Site	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:220091655C>T	ENST00000409618.1	-	5	587	c.147_splice	c.e5-1	p.V50_splice	ATG9A_ENST00000396761.2_Splice_Site_p.V50_splice|ATG9A_ENST00000409422.1_5'UTR|ATG9A_ENST00000361242.4_Splice_Site_p.V50_splice|ATG9A_ENST00000488833.1_5'UTR			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	50					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGATTATAAACGTGTAATTGT	0.408000													7	37					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117171067	117171067	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr7:117171067C>A	ENST00000003084.6	+	4	520	c.388C>A	c.(388-390)Ctc>Atc	p.L130I	CFTR_ENST00000454343.1_Missense_Mutation_p.L130I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	130	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTTATGCCTTCTCTTTATTGT	0.423000									Cystic Fibrosis				5	38					3.59834e-05	3.74227e-05	1	1	0
FOXI1	2299	broad.mit.edu	37	5	169535073	169535073	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:169535073C>G	ENST00000306268.6	+	2	656	c.595C>G	c.(595-597)Ctg>Gtg	p.L199V	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	199					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTACTGGACCCTGGACCCCAA	0.428000									Pendred syndrome				11	37					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237948018	237948018	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:237948018G>C	ENST00000366574.2	+	90	13323	c.13006G>C	c.(13006-13008)Gac>Cac	p.D4336H	RYR2_ENST00000542537.1_Missense_Mutation_p.D4320H|RYR2_ENST00000360064.6_Missense_Mutation_p.D4342H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4336					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)			CAACATGCCAGACCCCACTCA	0.552000													10	62					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153036775	153036775	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chrX:153036775C>T	ENST00000538966.1	+	14	2604	c.2333C>T	c.(2332-2334)tCc>tTc	p.S778F	PLXNB3_ENST00000538282.1_Missense_Mutation_p.S365F|PLXNB3_ENST00000361971.5_Missense_Mutation_p.S755F|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Missense_Mutation_p.S408F	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	755					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TTTTATCCCTCCATGTCCCAG	0.607000													4	14					0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133306796	133306796	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr12:133306796A>G	ENST00000539605.1	-	10	8450	c.1766T>C	c.(1765-1767)aTa>aCa	p.I589T	ANKLE2_ENST00000542657.1_Missense_Mutation_p.I6T|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000357997.5_Missense_Mutation_p.I651T|ANKLE2_ENST00000542282.1_Missense_Mutation_p.I6T			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	651						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CCGATTTTTTATTTCTTCCAA	0.512000													9	58					0	0	1	0	0
DPY19L1	23333	broad.mit.edu	37	7	35009087	35009087	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr7:35009087G>C	ENST00000310974.4	-	9	897	c.753C>G	c.(751-753)ttC>ttG	p.F251L	DPY19L1_ENST00000462134.2_5'UTR	NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	251						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AAGGAAGCATGAAAAATACAT	0.343000													4	26					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801399	185801399	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:185801399G>T	ENST00000302277.6	+	4	1870	c.1276G>T	c.(1276-1278)Gta>Tta	p.V426L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	426						intracellular	zinc ion binding	p.V426I(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGAGCCATTTGTACCTGTCCT	0.373000													17	114					1.15088e-07	1.26434e-07	1	1	0
GLIS3	169792	broad.mit.edu	37	9	3856103	3856103	+	Silent	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr9:3856103C>T	ENST00000324333.10	-	8	2107	c.1914G>A	c.(1912-1914)caG>caA	p.Q638Q	GLIS3_ENST00000381971.3_Silent_p.Q793Q|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	638					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TATAGGGAGGCTGTGTTCTTT	0.468000													18	34					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8931278	8931278	+	Silent	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:8931278G>A	ENST00000256707.3	-	13	1534	c.1353C>T	c.(1351-1353)ctC>ctT	p.L451L	KIDINS220_ENST00000427284.1_Silent_p.L451L|KIDINS220_ENST00000473731.1_Silent_p.L451L|KIDINS220_ENST00000319688.5_Silent_p.L452L|KIDINS220_ENST00000418530.1_Silent_p.L409L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	451	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAGGCTCACTGAGAATATCTG	0.433000													11	52					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516912	140516912	+	Silent	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:140516912C>T	ENST00000231134.5	+	1	2113	c.1896C>T	c.(1894-1896)cgC>cgT	p.R632R		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		632	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCGGCCA	0.692000													17	82					0	0	1	0	0
NKAP	79576	broad.mit.edu	37	X	119070345	119070345	+	Silent	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chrX:119070345C>T	ENST00000371410.3	-	4	754	c.588G>A	c.(586-588)agG>agA	p.R196R	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	196	Lys-rich.|Necessary for interaction with CIR1.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TTTTCTTTCTCCTTTTCTTGG	0.318000													9	24					0	0	1	0	0
AMZ2	51321	broad.mit.edu	37	17	66246328	66246328	+	Splice_Site	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr17:66246328G>C	ENST00000359904.3	+	2	1132		c.e2-1		AMZ2_ENST00000577985.1_5'UTR|AMZ2_ENST00000580753.1_Splice_Site|AMZ2_ENST00000359783.4_Splice_Site|AMZ2_ENST00000392720.2_Splice_Site|AMZ2_ENST00000577273.1_5'UTR|AMZ2_ENST00000577866.1_Splice_Site|AMZ2_ENST00000585050.1_Intron	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2								metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTTTTGTTAGATGCAAATAA	0.358000													42	58					0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207107783	207107783	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:207107783C>G	ENST00000356495.4	-	6	1870	c.1687G>C	c.(1687-1689)Gaa>Caa	p.E563Q		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	563						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTCCTCTCTTCAACTGCCACA	0.597000													10	39					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230675762	230675762	+	Splice_Site	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:230675762C>G	ENST00000283943.5	-	14	2090		c.e14-1		TRIP12_ENST00000389045.3_Splice_Site|TRIP12_ENST00000389044.4_Splice_Site|TRIP12_ENST00000543084.1_Intron	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GGAGTAAATTCTTCACAAACA	0.363000													4	36					0	0	1	0	0
FAM57B	83723	broad.mit.edu	37	16	30038047	30038047	+	Silent	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr16:30038047G>A	ENST00000380495.4	-	3	1058	c.327C>T	c.(325-327)gaC>gaT	p.D109D	FAM57B_ENST00000279389.4_Silent_p.D59D|FAM57B_ENST00000564806.1_Silent_p.D59D	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	109	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TGGCCGCTCCGTCGTCCCCTC	0.607000													4	34					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38660047	38660047	+	RNA	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr10:38660047C>T	ENST00000494540.1	+	0	826					NR_003086.1																						ATCCTCTGATCAAATATCTGA	0.428000													14	34					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGAAACAAATGAATGATGC	0.368000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			23	78					0	0	1	0	0
HLA-C	3107	broad.mit.edu	37	6	31239532	31239532	+	Missense_Mutation	SNP	C	C	T	rs41543115		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr6:31239532C>T	ENST00000383329.3	-	2	201	c.187G>A	c.(187-189)Gac>Aac	p.D63N	HLA-C_ENST00000376228.5_Missense_Mutation_p.D63N			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	63	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CTCGCGGCGTCGCTGTCGAAC	0.687000													8	54					0	0	1	0	0
SNUPN	10073	broad.mit.edu	37	15	75901925	75901925	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr15:75901925C>T	ENST00000564644.1	-	6	1054	c.476G>A	c.(475-477)gGc>gAc	p.G159D	SNUPN_ENST00000567134.1_Missense_Mutation_p.G159D|SNUPN_ENST00000371091.5_Missense_Mutation_p.G201D|SNUPN_ENST00000308588.5_Missense_Mutation_p.G159D|SNUPN_ENST00000564675.1_Missense_Mutation_p.G159D			O95149	SPN1_HUMAN	snurportin 1	159	Necessary for interaction with XPO1.				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						TCGCCTGTTGCCTCCTGGCAG	0.438000													13	62					0	0	1	0	0
FRS3	10817	broad.mit.edu	37	6	41738629	41738629	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr6:41738629C>G	ENST00000373018.3	-	7	1458	c.1207G>C	c.(1207-1209)Gat>Cat	p.D403H	FRS3_ENST00000259748.2_Missense_Mutation_p.D403H	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	403					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGGCGGAAATCAAAGTTGAAG	0.677000													9	47					0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	172003756	172003756	+	Silent	SNP	G	G	A	rs115364239	by1000genomes	TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:172003756G>A	ENST00000336824.4	+	7	930	c.831G>A	c.(829-831)tcG>tcA	p.S277S	FNDC3B_ENST00000416957.1_Silent_p.S277S|FNDC3B_ENST00000415807.2_Silent_p.S277S	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	277	Fibronectin type-III 1.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACATTCTTTCGGGAATAGAGA	0.348000													18	47					0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118327287	118327287	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr10:118327287C>A	ENST00000369221.2	+	13	1403	c.1375C>A	c.(1375-1377)Ctg>Atg	p.L459M		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	459	PLAT.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	p.L459M(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	GGAGGAAGTTCTGCTCACCCT	0.433000													8	47					2.17888e-05	2.31228e-05	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139412282	139412282	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr9:139412282C>T	ENST00000277541.6	-	8	1438	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	455	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GAGACGCACTCGTTGACGTCG	0.667000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			39	59					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52896759	52896759	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:52896759G>A	ENST00000371544.3	-	28	4896	c.4634C>T	c.(4633-4635)aCg>aTg	p.T1545M	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T1546M	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1545	Pro-rich.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ATCGTGAGACGTGTTAGGGAT	0.512000													8	53					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G														p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378000													8	119					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33293956	33293956	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr14:33293956C>T	ENST00000280979.4	+	13	7107	c.6937C>T	c.(6937-6939)Cga>Tga	p.R2313*	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2313					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.R2313*(1)		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)		TCATGAAAAACGACATAGAAA	0.418000													35	75					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145365372	145365372	+	Missense_Mutation	SNP	C	C	G	rs4126496		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:145365372C>G	ENST00000342960.5	+	80	10032	c.9997C>G	c.(9997-9999)Ctt>Gtt	p.L3333V	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3333										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TTCAGGTTGTCTTGAACTGTG	0.488000													6	61					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577058	7577058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr17:7577058C>A	ENST00000420246.2	-	8	1012	c.880G>T	c.(880-882)Gag>Tag	p.E294*	TP53_ENST00000455263.2_Nonsense_Mutation_p.E294*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E294*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E294*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E294*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	294	Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (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.E294*(46)|p.E294fs*51(9)|p.K291fs*48(8)|p.0?(8)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(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)		TGGTGAGGCTCCCCTTTCTTG	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)			33	31					2.47316e-13	2.81615e-13	1	1	0
PDZD8	118987	broad.mit.edu	37	10	119134268	119134268	+	Silent	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr10:119134268G>A	ENST00000334464.5	-	1	710	c.471C>T	c.(469-471)atC>atT	p.I157I		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	157					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GGATGGTCTTGATGAAGGGCA	0.721000													7	26					0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49717952	49717952	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr12:49717952C>G	ENST00000380327.5	+	4	452	c.352C>G	c.(352-354)Cct>Gct	p.P118A	TROAP_ENST00000549275.1_Intron|TROAP_ENST00000257909.3_Intron|TROAP_ENST00000548311.1_Intron|TROAP_ENST00000549534.1_3'UTR|TROAP_ENST00000551245.1_Intron|TROAP_ENST00000550709.1_3'UTR|RP11-161H23.9_ENST00000553259.1_RNA	NM_001100620.1	NP_001094090.1	Q12815	TROAP_HUMAN	trophinin associated protein	115					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GGTCCCAGCTCCTGGAAAGCT	0.507000													9	60					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165994547	165994547	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:165994547C>A	ENST00000360093.3	-	15	2724	c.2233G>T	c.(2233-2235)Gca>Tca	p.A745S	SCN3A_ENST00000283254.7_Missense_Mutation_p.A745S|SCN3A_ENST00000409101.3_Missense_Mutation_p.A696S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	745						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTTAACCATGCATCACAGCAG	0.383000													6	61					3.59834e-05	3.74227e-05	1	1	0
MAP3K4	4216	broad.mit.edu	37	6	161470317	161470317	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr6:161470317C>G	ENST00000392142.4	+	3	1161	c.1013C>G	c.(1012-1014)tCa>tGa	p.S338*	MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.S338*|MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.S338*|MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.S338*	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	338					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)		GTAGGTTACTCAACACATCAT	0.443000													10	66					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35991265	35991265	+	Silent	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:35991265C>T	ENST00000274278.3	-	1	435	c.78G>A	c.(76-78)ctG>ctA	p.L26L	UGT3A1_ENST00000507113.1_Silent_p.L26L|UGT3A1_ENST00000503189.1_Silent_p.L26L|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000333811.4_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	26						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGATATTGTCAGGATTTTGG	0.597000													16	80					0	0	1	0	0
PFKFB3	5209	broad.mit.edu	37	10	6261636	6261636	+	Silent	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr10:6261636C>G	ENST00000379775.4	+	7	933	c.603C>G	c.(601-603)ctC>ctG	p.L201L	PFKFB3_ENST00000379782.3_Silent_p.L201L|PFKFB3_ENST00000360521.2_Silent_p.L201L|PFKFB3_ENST00000317350.4_Silent_p.L201L|PFKFB3_ENST00000540253.1_Silent_p.L215L|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379789.4_Silent_p.L181L|PFKFB3_ENST00000379785.1_Silent_p.L201L	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	201	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						ACCAGCCCCTCGACCCCGACA	0.512000													10	56					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204588012	204588012	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:204588012G>C	ENST00000367175.1	-	1	3321	c.1109C>G	c.(1108-1110)cCc>cGc	p.P370R	LRRN2_ENST00000367177.3_Missense_Mutation_p.P370R|LRRN2_ENST00000367176.3_Missense_Mutation_p.P370R			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	370	LRRCT.				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)			ACAGCGGATGGGGTTGCCGTG	0.632000													7	51					0	0	1	0	0
GZMA	3001	broad.mit.edu	37	5	54403740	54403740	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:54403740G>A	ENST00000274306.6	+	3	369	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K		NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	112	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AGCCACACGCGAAGGTGACCT	0.438000													16	72					0	0	1	0	0
CNBD2	140894	broad.mit.edu	37	20	34572690	34572690	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr20:34572690G>A	ENST00000373973.3	+	6	879	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K	CNBD2_ENST00000538900.1_Missense_Mutation_p.E236K|CNBD2_ENST00000349339.1_Missense_Mutation_p.E236K					cyclic nucleotide binding domain containing 2																		GTATCGGTTTGAATTTTTTAG	0.443000													26	116					0	0	1	0	0
PLAA	9373	broad.mit.edu	37	9	26935110	26935110	+	Missense_Mutation	SNP	G	G	A	rs145543530		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr9:26935110G>A	ENST00000397292.3	-	2	661	c.244C>T	c.(244-246)Cat>Tat	p.H82Y	PLAA_ENST00000520884.1_Missense_Mutation_p.H82Y	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	82					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		ATTAGGCCATGAGGGTAGATG	0.418000													16	81					0	0	1	0	0
BRIX1	55299	broad.mit.edu	37	5	34925420	34925420	+	Silent	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:34925420G>A	ENST00000336767.5	+	10	1245	c.882G>A	c.(880-882)ccG>ccA	p.P294P	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	294					ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(1)|large_intestine(2)|lung(1)	4						AGAAAGAGCCGAAGACTCTTC	0.408000													6	32					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84256345	84256345	+	Silent	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr16:84256345G>A	ENST00000308251.4	-	3	1106	c.1038C>T	c.(1036-1038)taC>taT	p.Y346Y		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	346						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GGCGCATCACGTAGAGGATGC	0.697000													5	20					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2120998	2120998	+	Silent	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:2120998C>T	ENST00000355272.6	-	14	1550	c.1344G>A	c.(1342-1344)gtG>gtA	p.V448V	AP3D1_ENST00000356926.4_Silent_p.V357V|AP3D1_ENST00000350812.6_Silent_p.V279V|AP3D1_ENST00000345016.5_Silent_p.V448V	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	448					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATGGCCTTCACGCGGATGG	0.652000													13	35					0	0	1	0	0
CCNG2	901	broad.mit.edu	37	4	78079685	78079685	+	Splice_Site	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:78079685G>C	ENST00000316355.5	+	2	356		c.e2-1		CCNG2_ENST00000497512.1_Splice_Site|CCNG2_ENST00000502280.1_Splice_Site|CCNG2_ENST00000354403.5_Splice_Site|CCNG2_ENST00000395640.1_5'UTR|CCNG2_ENST00000509972.1_5'UTR	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2						cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTACTGCAGATGAAGGATT	0.547000													13	79					0	0	1	0	0
C5orf15	56951	broad.mit.edu	37	5	133295357	133295357	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:133295357G>A	ENST00000231512.3	-	2	696	c.494C>T	c.(493-495)tCt>tTt	p.S165F	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	165						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			GGTGTCATCAGACTCGTCGTC	0.468000													13	50					0	0	1	0	0
RPF2	84154	broad.mit.edu	37	6	111306267	111306267	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr6:111306267G>A	ENST00000441448.2	+	2	174	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	28						nucleolus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						GAAACTCAATGAAAATATTAA	0.323000													32	93					0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11888618	11888618	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:11888618G>A	ENST00000346436.6	+	12	1110	c.1058G>A	c.(1057-1059)tGt>tAt	p.C353Y	CLCN6_ENST00000376496.3_Missense_Mutation_p.C353Y|CLCN6_ENST00000376487.3_Missense_Mutation_p.C331Y|CLCN6_ENST00000376492.3_Intron|CLCN6_ENST00000312413.6_Intron	NM_001286.3	NP_001277.1	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	353					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACATTCAACTGTCTGAACAAG	0.537000													38	215					0	0	1	0	0
SLC35C1	55343	broad.mit.edu	37	11	45827445	45827445	+	Silent	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr11:45827445G>A	ENST00000314134.3	+	1	1489	c.93G>A	c.(91-93)gaG>gaA	p.E31E	SLC35C1_ENST00000442528.2_Silent_p.E18E|SLC35C1_ENST00000456334.1_Silent_p.E18E	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	31						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		CCAACGGGGAGAAGCCCTTTC	0.602000													13	74					0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17476278	17476278	+	Silent	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:17476278C>T	ENST00000252590.4	-	3	1057	c.996G>A	c.(994-996)cgG>cgA	p.R332R		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	332				Missing (in Ref. 3; BAC04681).		caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTTGGCCTCCCGGGCCTGAG	0.647000													5	37					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15818249	15818249	+	Silent	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr16:15818249C>T	ENST00000338282.6	-	31	4240	c.4134G>A	c.(4132-4134)aaG>aaA	p.K1378K	NDE1_ENST00000342673.5_3'UTR|NDE1_ENST00000396355.1_3'UTR|NDE1_ENST00000396354.1_3'UTR|MYH11_ENST00000396324.3_Silent_p.K1385K|NDE1_ENST00000571896.1_3'UTR|MYH11_ENST00000300036.5_Silent_p.K1378K|MYH11_ENST00000576790.1_Silent_p.K1378K|MYH11_ENST00000452625.2_Silent_p.K1385K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1378					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCTGCAGCTTCTTCTTCGAGT	0.587000			T	CBFB	AML								7	58					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139629162	139629162	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr8:139629162G>A	ENST00000303045.6	-	54	4311	c.3865C>T	c.(3865-3867)Ccc>Tcc	p.P1289S	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1269S|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1289	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTACCCGGGGACCGGGTGCA	0.582000										HNSCC(7;0.00092)			11	70					0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20178646	20178646	+	Silent	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr11:20178646C>T	ENST00000524983.2	-	3	897	c.609G>A	c.(607-609)caG>caA	p.Q203Q	DBX1_ENST00000227256.3_Silent_p.Q203Q			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	203					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						TGATGTACTTCTGCTTCTGGA	0.672000													4	28					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167849068	167849068	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:167849068C>T	ENST00000265293.4	+	10	1742	c.1240C>T	c.(1240-1242)Cgg>Tgg	p.R414W	WWC1_ENST00000521089.1_Missense_Mutation_p.R414W	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	414					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGAAGCCACCCGGCAGGTGGC	0.572000													10	63					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106899195	106899195	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr10:106899195G>A	ENST00000369701.3	+	8	1480	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	418						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)		GTGTCTTATCGAAGAGAGGCC	0.502000													19	65					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58111340	58111340	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:58111340G>A	ENST00000357272.4	+	23	4096	c.3931G>A	c.(3931-3933)Gtg>Atg	p.V1311M	FLNB_ENST00000348383.5_Missense_Mutation_p.V1311M|FLNB_ENST00000493452.1_Missense_Mutation_p.V1142M|FLNB_ENST00000295956.4_Missense_Mutation_p.V1311M|FLNB_ENST00000358537.3_Missense_Mutation_p.V1311M|FLNB_ENST00000429972.2_Missense_Mutation_p.V1311M|FLNB_ENST00000419752.2_Missense_Mutation_p.V1142M|FLNB_ENST00000490882.1_Missense_Mutation_p.V1311M			O75369	FLNB_HUMAN	filamin B, beta	1311	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ATATGATGACGTGCCTATCCC	0.463000													8	65					0	0	1	0	0
FRS3	10817	broad.mit.edu	37	6	41738461	41738461	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr6:41738461C>G	ENST00000373018.3	-	7	1626	c.1375G>C	c.(1375-1377)Gac>Cac	p.D459H	FRS3_ENST00000259748.2_Missense_Mutation_p.D459H	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	459					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTTTTGAGGTCAATCACGGCG	0.652000													14	73					0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47939336	47939336	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:47939336A>T	ENST00000402813.3	-	10	1524	c.1382T>A	c.(1381-1383)aTc>aAc	p.I461N	CNGA1_ENST00000420489.2_Missense_Mutation_p.I392N|CNGA1_ENST00000514170.1_Missense_Mutation_p.I392N|CNGA1_ENST00000358519.4_Missense_Mutation_p.I392N|CNGA1_ENST00000544810.1_Missense_Mutation_p.I392N			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	392					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						GTTACCAACGATGGTAGCAAA	0.393000													18	96					0	0	1	0	0
ARL8B	55207	broad.mit.edu	37	3	5164258	5164258	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:5164258C>A	ENST00000256496.3	+	1	354	c.108C>A	c.(106-108)ttC>ttA	p.F36L	ARL8B_ENST00000419534.2_Missense_Mutation_p.F36L	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B	36					cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		AGACCACCTTCGTCAATGTCA	0.672000													3	33					0.150653	0.150653	1	1	0
BCRP7	100133163	broad.mit.edu	37	22	18846006	18846006	+	RNA	SNP	A	A	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr22:18846006A>G	ENST00000412938.1	+	0	3364																											GCGCAGGCCGACACTCACTGA	0.617000													4	22					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57522853	57522853	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr7:57522853G>A	ENST00000420713.1	+	3	353	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AAAGAGAAATGAGATGGTAGC	0.408000													8	59					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202406976	202406976	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:202406976G>C	ENST00000406302.3	+	10	1435	c.1282G>C	c.(1282-1284)Gaa>Caa	p.E428Q	PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.E428Q|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.E428Q	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	428					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TAACAAGCCAGAAGAGCCCAA	0.418000													11	37					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65376868	65376868	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:65376868G>T	ENST00000330909.8	-	14	2364	c.2365C>A	c.(2365-2367)Cca>Aca	p.P789T	MAGI1_ENST00000483466.1_Missense_Mutation_p.P789T|MAGI1_ENST00000497477.2_Missense_Mutation_p.P789T|MAGI1_ENST00000402939.2_Missense_Mutation_p.P789T	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	789					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.P789T(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AAAGGATCTGGTTTTTTCTGG	0.567000													19	39					7.45023e-12	8.3614e-12	1	1	0
CSRP2BP	57325	broad.mit.edu	37	20	18142736	18142736	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr20:18142736G>C	ENST00000278816.2	+	6	1605	c.955G>C	c.(955-957)Gac>Cac	p.D319H	CSRP2BP_ENST00000377681.2_Missense_Mutation_p.D318H|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.D319H|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.D191H			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	319					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GAGCTCCTCTGACCGCACCCC	0.522000													50	166					0	0	1	0	0
COX7B2	170712	broad.mit.edu	37	4	46737152	46737152	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:46737152G>C	ENST00000396533.1	-	4	308	c.58C>G	c.(58-60)Caa>Gaa	p.Q20E	COX7B2_ENST00000355591.3_Missense_Mutation_p.Q20E|COX7B2_ENST00000543208.1_Missense_Mutation_p.Q19E|COX7B2_ENST00000302930.5_Missense_Mutation_p.Q20E			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	20						integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			large_intestine(1)|lung(4)	5						GCCATGCTTTGCAGAATGCTT	0.423000													18	67					0	0	1	0	0
CXCL5	6374	broad.mit.edu	37	4	74863796	74863796	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:74863796C>T	ENST00000296027.4	-	3	456	c.259G>A	c.(259-261)Ggg>Agg	p.G87R		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	87					cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			ATTTCCTTCCCGTTCTTCAGG	0.433000													10	65					0	0	1	0	0
EN2	2020	broad.mit.edu	37	7	155255189	155255189	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr7:155255189C>T	ENST00000297375.4	+	2	1058	c.809C>T	c.(808-810)aCg>aTg	p.T270M		NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	270						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGTACCTGACGGAGCAGCGG	0.602000													16	69					0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35450419	35450419	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:35450419C>T	ENST00000404801.1	-	4	726	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	ZNF792_ENST00000605484.1_Missense_Mutation_p.E47K	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCCACTCCTTCTACAGAAACG	0.463000													14	47					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44858160	44858160	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr15:44858160C>G	ENST00000261866.7	-	38	6907	c.6891G>C	c.(6889-6891)ttG>ttC	p.L2297F	SPG11_ENST00000427534.2_Intron|SPG11_ENST00000535302.2_Missense_Mutation_p.L2184F	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2297					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		GCAGAGTTATCAACTTGGTGA	0.537000													4	26					0	0	1	0	0
SNUPN	10073	broad.mit.edu	37	15	75901988	75901988	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr15:75901988G>A	ENST00000564644.1	-	6	991	c.413C>T	c.(412-414)tCt>tTt	p.S138F	SNUPN_ENST00000567134.1_Missense_Mutation_p.S138F|SNUPN_ENST00000371091.5_Missense_Mutation_p.S180F|SNUPN_ENST00000308588.5_Missense_Mutation_p.S138F|SNUPN_ENST00000564675.1_Missense_Mutation_p.S138F			O95149	SPN1_HUMAN	snurportin 1	138	Necessary for interaction with XPO1.				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						GGCACTGGTAGAACCCTGCAT	0.483000													11	49					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87614258	87614258	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr10:87614258G>A	ENST00000327946.7	-	8	1313	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	410						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.R410S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTTACCTTGCGCATGTCTTTG	0.512000										Multiple Myeloma(13;0.14)			6	52					0	0	1	0	0
FER1L5	90342	broad.mit.edu	37	2	97370228	97370228	+	RNA	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:97370228C>G	ENST00000457909.1	+	0	5476							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						TGAGCTGGATCAAACCTCAAC	0.488000													18	119					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81211499	81211499	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr16:81211499C>T	ENST00000599697.1	-	14	2349	c.2350G>A	c.(2350-2352)Gag>Aag	p.E784K	PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000527937.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	784	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACGGTGCCCTCCTCTGGGGCA	0.592000													15	69					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61415605	61415605	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:61415605C>T	ENST00000398571.2	-	80	10349	c.10273G>A	c.(10273-10275)Gaa>Aaa	p.E3425K		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3425					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GACATGTCTTCTGAAAACGAA	0.393000													18	77					0	0	1	0	0
CCDC142	84865	broad.mit.edu	37	2	74709223	74709223	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:74709223C>T	ENST00000393965.3	-	1	1138	c.742G>A	c.(742-744)Gca>Aca	p.A248T	CCDC142_ENST00000290418.4_Missense_Mutation_p.A248T|CCDC142_ENST00000471713.1_5'UTR	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	248										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						AGCCGACTTGCCACCTGGCAA	0.672000													7	23					0	0	1	0	0
LOC653786	653786	broad.mit.edu	37	16	22588087	22588087	+	RNA	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr16:22588087G>C	ENST00000550753.1	+	0	2562					NR_003676.2																						GTGGGACACCGTTCCCTGGAT	0.522000													4	27					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141248258	141248258	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:141248258C>T	ENST00000287008.3	-	2	926	c.779G>A	c.(778-780)cGc>cAc	p.R260H	PCDH1_ENST00000394536.3_Missense_Mutation_p.R260H|PCDH1_ENST00000456271.1_Missense_Mutation_p.R248H|PCDH1_ENST00000503492.1_Missense_Mutation_p.R260H|PCDH1_ENST00000536585.1_Missense_Mutation_p.R238H	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	260	Cadherin 2.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ACTGCTGGCGCGTGGGGGGCT	0.602000													9	29					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81211502	81211502	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr16:81211502C>T	ENST00000599697.1	-	14	2346	c.2347G>A	c.(2347-2349)Gag>Aag	p.E783K	PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000527937.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	783	REJ.			E -> G (in Ref. 5; BAC05222).	neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTGCCCTCCTCTGGGGCAATA	0.597000													16	69					0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87081717	87081717	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr8:87081717C>A	ENST00000276616.2	-	1	209	c.135G>T	c.(133-135)agG>agT	p.R45S	PSKH2_ENST00000517981.1_Intron	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	45							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CCACCTGTATCCTCTGCGCCG	0.677000													17	16					1.15088e-07	1.26434e-07	1	1	0
RELN	5649	broad.mit.edu	37	7	103197439	103197439	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr7:103197439G>T	ENST00000428762.1	-	38	5941	c.5782C>A	c.(5782-5784)Caa>Aaa	p.Q1928K	RELN_ENST00000343529.5_Missense_Mutation_p.Q1928K|RELN_ENST00000424685.2_Missense_Mutation_p.Q1928K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1928					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)		TTATAAGGTTGCCAGAGTCTG	0.383000													23	121					3.08376e-08	3.43619e-08	1	1	0
GPR98	84059	broad.mit.edu	37	5	89924618	89924618	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:89924618G>T	ENST00000405460.2	+	8	1574	c.1478G>T	c.(1477-1479)cGa>cTa	p.R493L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	493					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.R493Q(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATACAATACGAGGAGGTGCA	0.428000													10	32					2.17888e-05	2.31228e-05	1	1	0
CFAP54	144535	broad.mit.edu	37	12	97073407	97073407	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr12:97073407G>A	ENST00000524981.3	+	7	946	c.946G>A	c.(946-948)Gtg>Atg	p.V316M				Q6ZTY8	CL063_HUMAN		290										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GCTTGTCTGCGTGCCCGTGGA	0.468000													27	122					0	0	1	0	0
BPIFA2	140683	broad.mit.edu	37	20	31761968	31761968	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr20:31761968T>A	ENST00000253362.2	+	4	532	c.386T>A	c.(385-387)gTc>gAc	p.V129D	BPIFA2_ENST00000354932.5_Missense_Mutation_p.V129D			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	129						extracellular region	lipid binding										AGCTTCCCTGTCACCGCGAAT	0.527000													17	60					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031419	33031419	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr12:33031419G>A	ENST00000340811.4	-	3	503	c.395C>T	c.(394-396)tCc>tTc	p.S132F	PKP2_ENST00000070846.6_Missense_Mutation_p.S132F	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	132					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GGACTTCTGGGAGCTGTACTG	0.522000													57	215					0	0	1	0	0
EIF3H	8667	broad.mit.edu	37	8	117668241	117668241	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr8:117668241C>G	ENST00000521861.1	-	5	584	c.561G>C	c.(559-561)ttG>ttC	p.L187F	EIF3H_ENST00000276682.4_Missense_Mutation_p.L201F	NM_003756.2	NP_003747.1	O15372	EIF3H_HUMAN	eukaryotic translation initiation factor 3, subunit H	187					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					TTGCTTTTTTCAATCTGTGAA	0.328000													21	68					0	0	1	0	0
ZBTB26	57684	broad.mit.edu	37	9	125681358	125681358	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr9:125681358C>G	ENST00000373656.3	-	2	929	c.856G>C	c.(856-858)Gag>Cag	p.E286Q	ZBTB26_ENST00000373654.1_Missense_Mutation_p.E286Q	NM_020924.2	NP_065975.1	Q9HCK0	ZBT26_HUMAN	zinc finger and BTB domain containing 26	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)	11						GCGTAGTTCTCCAGGTGACGA	0.473000													20	139					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6292155	6292155	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr11:6292155G>C	ENST00000525462.1	+	4	936	c.933G>C	c.(931-933)ttG>ttC	p.L311F	CCKBR_ENST00000334619.2_Intron|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000532396.1_Intron			P32239	GASR_HUMAN	cholecystokinin B receptor	266					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AAATGGAGTTGAGCTGGGAGC	0.612000													6	22					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971096	21971096	+	Nonsense_Mutation	SNP	C	C	A	rs121913384		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr9:21971096C>A	ENST00000304494.5	-	2	532	c.262G>T	c.(262-264)Gag>Tag	p.E88*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G102V|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143V|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E37*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102V|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E37*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E88*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E88*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	88			E -> D (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		AGGAAGCCCTCCCGGGCAGCG	0.756000	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	30					7.48243e-07	8.16265e-07	1	1	0
LYST	1130	broad.mit.edu	37	1	235973763	235973763	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:235973763G>T	ENST00000389794.3	-	5	529	c.355C>A	c.(355-357)Cag>Aag	p.Q119K	LYST_ENST00000536965.1_Missense_Mutation_p.Q119K|LYST_ENST00000389793.2_Missense_Mutation_p.Q119K			Q99698	LYST_HUMAN	lysosomal trafficking regulator	119					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AATTTTTCCTGAGTGGATCTT	0.373000													14	58					1.49906e-05	1.62398e-05	1	1	0
PTPN14	5784	broad.mit.edu	37	1	214551380	214551380	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:214551380C>G	ENST00000366956.5	-	14	2804	c.2610G>C	c.(2608-2610)ttG>ttC	p.L870F	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	870					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		AGAGCCCATTCAATGCTGCCA	0.547000													15	51					0	0	1	0	0
FOS	2353	broad.mit.edu	37	14	75747960	75747960	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr14:75747960C>T	ENST00000303562.4	+	4	1185	c.976C>T	c.(976-978)Ccg>Tcg	p.P326S	FOS_ENST00000555347.1_Missense_Mutation_p.P178S|FOS_ENST00000535987.1_Missense_Mutation_p.P290S|FOS_ENST00000555686.1_Missense_Mutation_p.P212S	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	326					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|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|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		CCTGTGCACTCCGGTGGTCAC	0.632000													18	113					0	0	1	0	0
FADD	8772	broad.mit.edu	37	11	70052566	70052566	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr11:70052566C>A	ENST00000301838.4	+	2	911	c.614C>A	c.(613-615)tCc>tAc	p.S205Y	RP11-805J14.5_ENST00000526174.1_RNA	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	205					activation of caspase activity|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|defense response to virus|induction of apoptosis via death domain receptors|innate immune response|interspecies interaction between organisms|necrotic cell death|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|signal transduction	cytosol	death receptor binding|identical protein binding			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GCATCTACCTCCGAAGCGTCC	0.592000													12	116					6.40141e-05	6.56987e-05	1	1	0
R3HDM1	23518	broad.mit.edu	37	2	136467655	136467655	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr2:136467655G>A	ENST00000264160.4	+	22	2855	c.2485G>A	c.(2485-2487)Ggg>Agg	p.G829R	R3HDM1_ENST00000329971.3_Missense_Mutation_p.G700R|R3HDM1_ENST00000409478.1_Missense_Mutation_p.G701R|R3HDM1_ENST00000410054.1_Missense_Mutation_p.G774R|R3HDM1_ENST00000409606.1_Missense_Mutation_p.G830R	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	829							nucleic acid binding	p.G829R(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ACCTGGTGGGGGGATGGTGAT	0.453000											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	69					0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39108455	39108455	+	Silent	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:39108455C>T	ENST00000591517.1	-	1	109	c.81G>A	c.(79-81)acG>acA	p.T27T	MAP4K1_ENST00000589130.1_Silent_p.T23T|MAP4K1_ENST00000396857.2_Silent_p.T27T|MAP4K1_ENST00000586296.1_Silent_p.T27T	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	27	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTTCCCCATACGTGCCGCCAC	0.607000													17	78					0	0	1	0	0
C17orf47	284083	broad.mit.edu	37	17	56621550	56621550	+	Translation_Start_Site	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr17:56621550G>C	ENST00000321691.3	-	0	179				RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47											NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGACCATCTGATAGATTGTG	0.463000													16	111					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100829940	100829940	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr8:100829940C>T	ENST00000358544.2	+	45	8456	c.8345C>T	c.(8344-8346)aCg>aTg	p.T2782M	VPS13B_ENST00000357162.2_Missense_Mutation_p.T2757M|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2782					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AATGAACTGACGGAGCTGTGT	0.448000													17	73					0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75406500	75406500	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr10:75406500C>G	ENST00000394810.2	-	4	3059	c.2910G>C	c.(2908-2910)tgG>tgC	p.W970C	SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.W746C	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	970						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)					CCCCAGGCCTCCACACATGAG	0.597000													18	73					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860197	16860197	+	Silent	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:16860197C>T	ENST00000524140.2	+	6	1162	c.744C>T	c.(742-744)cgC>cgT	p.R248R	NWD1_ENST00000523826.1_Silent_p.R42R|NWD1_ENST00000379808.3_Silent_p.R248R|NWD1_ENST00000339803.6_Silent_p.R113R|NWD1_ENST00000552788.1_Silent_p.R248R|NWD1_ENST00000549814.1_Silent_p.R248R	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	248							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGTGGAGCCGCGACTTGGTGA	0.602000													10	49					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80327777	80327777	+	Silent	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:80327777G>A	ENST00000358842.3	-	1	1595	c.1578C>T	c.(1576-1578)atC>atT	p.I526I		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	526					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GACTAGAGAAGATAGAAGGAT	0.423000													10	50					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36685215	36685215	+	Silent	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr22:36685215C>T	ENST00000216181.5	-	32	4703	c.4473G>A	c.(4471-4473)caG>caA	p.Q1491Q		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1491					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTCCGCCTTCTGCTCCATGG	0.637000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				10	33					0	0	1	0	0
SLC25A3	5250	broad.mit.edu	37	12	98993752	98993752	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr12:98993752C>T	ENST00000188376.5	+	5	1015	c.661C>T	c.(661-663)Cct>Tct	p.P221S	SLC25A3_ENST00000551917.1_Missense_Mutation_p.P222S|SLC25A3_ENST00000549338.1_Missense_Mutation_p.P221S|SLC25A3_ENST00000548847.1_Missense_Mutation_p.P221S|SLC25A3_ENST00000401722.3_Missense_Mutation_p.P221S|SLC25A3_ENST00000552981.1_Missense_Mutation_p.P221S|SLC25A3_ENST00000228318.3_Missense_Mutation_p.P222S	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	222					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GGGGGTTGCTCCTCTCTGGAT	0.438000													10	61					0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44845977	44845977	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr21:44845977C>A	ENST00000270162.6	-	2	214	c.82G>T	c.(82-84)Gac>Tac	p.D28Y		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	28	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CGCTCGATGTCGTAAAAACCC	0.677000													4	5					0.150653	0.150653	1	1	0
SMG7	9887	broad.mit.edu	37	1	183519946	183519946	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:183519946C>G	ENST00000367537.3	+	22	3338	c.3143C>G	c.(3142-3144)tCt>tGt	p.S1048C	SMG7_ENST00000508461.1_Missense_Mutation_p.S1023C|SMG7_ENST00000507469.1_Missense_Mutation_p.S1019C|SMG7_ENST00000347615.2_Missense_Mutation_p.S1015C|SMG7_ENST00000456731.2_Missense_Mutation_p.S927C|SMG7_ENST00000515829.2_Missense_Mutation_p.S969C			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1015					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CTACCCAGCTCTCCTCCAACA	0.438000													19	75					0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17476143	17476143	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:17476143C>T	ENST00000252590.4	-	3	1192	c.1131G>A	c.(1129-1131)atG>atA	p.M377I		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	377						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGGCCAGCTCCATCCTGAGCT	0.617000													9	62					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196879600	196879600	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:196879600C>T	ENST00000367416.2	+	6	1123	c.986C>T	c.(985-987)cCa>cTa	p.P329L	CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.P83L|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						CCAACAGTCCCATGCCTCAGT	0.388000													7	55					0	0	1	0	0
RTP4	64108	broad.mit.edu	37	3	187089110	187089110	+	Silent	SNP	C	C	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:187089110C>A	ENST00000259030.2	+	2	800	c.690C>A	c.(688-690)gtC>gtA	p.V230V		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	230					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		ACATCTGTGTCTTTATTTTGC	0.413000													9	29					2.17888e-05	2.31228e-05	1	1	0
CD101	9398	broad.mit.edu	37	1	117568409	117568409	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:117568409G>A	ENST00000256652.4	+	8	2765	c.2707G>A	c.(2707-2709)Gat>Aat	p.D903N	CD101_ENST00000369470.1_Missense_Mutation_p.D903N|RP11-27K13.3_ENST00000445523.1_RNA	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	903	Ig-like C2-type 7.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGAGATGGAGGATGCAGGAAT	0.537000													10	62					0	0	1	0	0
MTIF3	219402	broad.mit.edu	37	13	28014163	28014163	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr13:28014163C>G	ENST00000381116.1	-	5	657	c.423G>C	c.(421-423)caG>caC	p.Q141H	MTIF3_ENST00000431572.2_Missense_Mutation_p.Q141H|MTIF3_ENST00000405591.2_Missense_Mutation_p.Q141H|MTIF3_ENST00000381120.3_Missense_Mutation_p.Q141H|MTIF3_ENST00000461838.1_5'UTR			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	141					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		CCCTCAGCCTCTGCCGCTCCT	0.493000													10	41					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39908187	39908187	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:39908187G>C	ENST00000564288.1	+	77	19829	c.19052G>C	c.(19051-19053)aGa>aCa	p.R6351T	MACF1_ENST00000545844.1_Missense_Mutation_p.R4292T|MACF1_ENST00000567887.1_Missense_Mutation_p.R6388T|MACF1_ENST00000317713.7_Missense_Mutation_p.R4292T|MACF1_ENST00000289893.4_Missense_Mutation_p.R4794T|MACF1_ENST00000361689.2_Missense_Mutation_p.R4292T|MACF1_ENST00000539005.1_Missense_Mutation_p.R4162T|MACF1_ENST00000372915.3_Missense_Mutation_p.R6250T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6359					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GATGCTCAGAGACCAATAAGT	0.433000													17	49					0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5133893	5133893	+	Splice_Site	SNP	G	G	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:5133893G>T	ENST00000159111.4	+	14	2124		c.e14-1		KDM4B_ENST00000536461.1_Splice_Site	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TGTTCTTCTAGAGGCATCCCC	0.612000													9	37					3.86212e-05	3.99e-05	1	1	0
ARHGEF2	9181	broad.mit.edu	37	1	155931566	155931566	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:155931566G>A	ENST00000368316.1	-	15	1740	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W	ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R424W|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R453W|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R451W|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R452W			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	452	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTTTGGGCCCGAGGGTCCATG	0.597000													20	55					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76744439	76744439	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr6:76744439A>G	ENST00000369963.3	-	2	322	c.133T>C	c.(133-135)Tat>Cat	p.Y45H	IMPG1_ENST00000369950.3_Missense_Mutation_p.Y123H			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	123					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CAGTCCTGATATTCCCCTGTG	0.493000													12	52					0	0	1	0	0
KCNC3	3748	broad.mit.edu	37	19	50826952	50826952	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:50826952G>A	ENST00000376959.2	-	2	1421	c.1258C>T	c.(1258-1260)Cgc>Tgc	p.R420C	KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000477616.1_Missense_Mutation_p.R420C			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	420			R -> H (in SCA13; loss of channel activity).		cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R420C(1)		endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CGCAGGATGCGGACGAAGCGG	0.652000													9	30					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154303399	154303399	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:154303399C>G	ENST00000368489.3	+	4	298	c.298C>G	c.(298-300)Ctg>Gtg	p.L100V	ATP8B2_ENST00000368487.3_Missense_Mutation_p.L67V|ATP8B2_ENST00000341822.2_Missense_Mutation_p.L86V|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	86					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTCCTCATTCTGCAGGTAGG	0.478000													5	26					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			5	22					0	0	1	0	0
NR1I2	8856	broad.mit.edu	37	3	119526249	119526249	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:119526249A>G	ENST00000393716.2	+	2	1991	c.152A>G	c.(151-153)tAt>tGt	p.Y51C	NR1I2_ENST00000466380.1_Missense_Mutation_p.Y51C|NR1I2_ENST00000337940.4_Missense_Mutation_p.Y90C	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	51					drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	GCCACTGGCTATCACTTCAAT	0.537000													19	92					0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629959	9629959	+	Silent	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr5:9629959G>A	ENST00000382492.2	-	1	504	c.186C>T	c.(184-186)atC>atT	p.I62I	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	62					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TAACGTAGAAGATGAACAACT	0.368000													7	48					0	0	1	0	0
SYNC	81493	broad.mit.edu	37	1	33149665	33149665	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr1:33149665C>T	ENST00000409190.3	-	4	1842	c.1384G>A	c.(1384-1386)Gaa>Aaa	p.E462K	SYNC_ENST00000373484.3_Intron|RBBP4_ENST00000373493.5_3'UTR	NM_030786.2	NP_110413.2	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	462	Tail.					intermediate filament|perinuclear region of cytoplasm	structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCAGCCTGTTCCAGGCTCTTG	0.428000													48	261					0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079223	57079223	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr8:57079223A>C	ENST00000316981.3	-	5	1561	c.1082T>G	c.(1081-1083)aTg>aGg	p.M361R	PLAG1_ENST00000423799.2_Missense_Mutation_p.M279R|PLAG1_ENST00000429357.2_Missense_Mutation_p.M361R	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	361	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			TTGTAACTCCATCAGGTAACT	0.438000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								31	147					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40439899	40439899	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:40439899C>T	ENST00000319592.4	-	4	1721	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	RBM47_ENST00000381793.2_Missense_Mutation_p.E338K|RBM47_ENST00000514014.1_Missense_Mutation_p.E300K|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.E338K|RBM47_ENST00000381795.6_Missense_Mutation_p.E338K			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	338						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TGCGCTGCCTCAGCCGCGCCG	0.662000													13	37					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57871560	57871560	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:57871560A>G	ENST00000381227.1	+	9	1462	c.1049A>G	c.(1048-1050)cAt>cGt	p.H350R	POLR2B_ENST00000431623.2_Missense_Mutation_p.H275R|POLR2B_ENST00000441246.2_Missense_Mutation_p.H343R|POLR2B_ENST00000314595.5_Missense_Mutation_p.H350R			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	350					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ATGCTCCCTCATGTTGGTGTC	0.333000													16	64					0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56847522	56847522	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:56847522G>A	ENST00000257287.4	+	13	1880	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	586					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GGCAGAAAAGGAAGCTTTAAG	0.338000													12	95					0	0	1	0	0
DUSP7	1849	broad.mit.edu	37	3	52084899	52084899	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:52084899C>T	ENST00000495880.1	-	3	1375	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	DUSP7_ENST00000296483.6_Missense_Mutation_p.E347K			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	398					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TAGAGCTGCTCACTCGACGCG	0.607000													7	27					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7574933	7574933	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr6:7574933G>C	ENST00000379802.3	+	17	2682	c.2341G>C	c.(2341-2343)Gaa>Caa	p.E781Q	DSP_ENST00000418664.2_Missense_Mutation_p.E781Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	781	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)		TCTCCAAACAGAAGACATGTT	0.453000													16	54					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059380	146059380	+	Silent	SNP	G	G	A			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr4:146059380G>A	ENST00000454497.2	-	21	2489	c.2352C>T	c.(2350-2352)ggC>ggT	p.G784G	OTUD4_ENST00000447906.2_Silent_p.G849G|OTUD4_ENST00000455611.2_Intron	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	848							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TAGGAACTGGGCCTAAGAATG	0.463000													4	54					0	0	1	0	0
FAM57B	83723	broad.mit.edu	37	16	30038054	30038054	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr16:30038054C>T	ENST00000380495.4	-	3	1051	c.320G>A	c.(319-321)gGg>gAg	p.G107E	FAM57B_ENST00000279389.4_Missense_Mutation_p.G57E|FAM57B_ENST00000564806.1_Missense_Mutation_p.G57E	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	107	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TCCGTCGTCCCCTCCATGCCC	0.607000													4	36					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110932	81110932	+	Silent	SNP	C	C	T			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr12:81110932C>T	ENST00000228644.3	+	1	242	c.90C>T	c.(88-90)gaC>gaT	p.D30D		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	30					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AATTTGGGGACGAGTTTGTGC	0.617000													10	31					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122000987	122000987	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr7:122000987G>C	ENST00000334010.7	-	24	3883	c.3462C>G	c.(3460-3462)ttC>ttG	p.F1154L	CADPS2_ENST00000313070.7_Missense_Mutation_p.F1115L|RP5-1101C3.1_ENST00000593910.1_RNA|RP5-1101C3.1_ENST00000591140.1_RNA|RP5-1101C3.1_ENST00000602012.1_RNA|RP5-1101C3.1_ENST00000602199.1_RNA|RP5-1101C3.1_ENST00000482375.1_RNA|CADPS2_ENST00000449022.2_Missense_Mutation_p.F1156L|CADPS2_ENST00000412584.2_Missense_Mutation_p.F1115L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1156					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TACTTACAGTGAATGACAGAA	0.333000													3	17					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	T	rs55992531	by1000genomes	TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													6	5	---	---	---	---					
RSPH6A	81492	broad.mit.edu	37	19	46299147	46299149	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:46299147_46299149delCCT	ENST00000221538.3	-	6	2274_2276	c.2132_2134delAGG	c.(2131-2136)ggc>g	p.EG711del	RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG447del	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	711	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTctcctcgccctcctcctcctc	0.557													7	145	---	---	---	---					
FLT3LG	2323	broad.mit.edu	37	19	49982165	49982166	+	Splice_Site	INS	-	-	C			TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr19:49982165_49982166insC	ENST00000595510.1	+	5	397_398		c.e5-1		FLT3LG_ENST00000595815.1_Splice_Site|FLT3LG_ENST00000594009.1_Splice_Site|FLT3LG_ENST00000600429.1_Splice_Site|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000597551.1_Splice_Site|FLT3LG_ENST00000204637.2_Splice_Site|FLT3LG_ENST00000344019.3_Splice_Site|FLT3LG_ENST00000596435.1_Intron			P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand						positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	p.S118fs*24(1)		large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CCTGCTCCCAGCCCCCCCCCAG	0.688													2	4	---	---	---	---					
MN1	4330	broad.mit.edu	37	22	28194933	28194934	+	In_Frame_Ins	INS	-	-	TGC	rs34890218		TCGA-CQ-A4C6-01A-11D-A25D-08	TCGA-CQ-A4C6-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e169fdd-2269-4fe1-811e-625aaabe2cde	833a8034-647f-4518-a5b9-d7f99a9b7726	g.chr22:28194933_28194934insTGC	ENST00000302326.4	-	1	2552_2553	c.1598_1599insGCA	c.(1597-1599)cca>cGCAca	p.533_533P>RT		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	533	Poly-Gln.						binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgttgctgctgctg	0.653			T	ETV6	"""AML, meningioma"""								6	11	---	---	---	---