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
SRPX	8406	broad.mit.edu	37	X	38019289	38019289	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chrX:38019289G>A	ENST00000378533.3	-	7	1042	c.936C>T	c.(934-936)ggC>ggT	p.G312G	SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000343800.6_Silent_p.G299G|SRPX_ENST00000544439.1_Silent_p.G292G|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000538295.1_Silent_p.G312G|SRPX_ENST00000432886.2_Silent_p.G253G	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	312	Sushi 3.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TGGGCTCCGTGCCAGACCAAG	0.567000													4	7					0	0	0.184627	0	0
DBF4	10926	broad.mit.edu	37	7	87529553	87529553	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:87529553A>G	ENST00000265728.1	+	9	1202	c.698A>G	c.(697-699)tAt>tGt	p.Y233C		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	233					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AGGCCATTTTATCTTCAGCTG	0.299000													9	66					0	0	0.361761	0	0
ITGA2	3673	broad.mit.edu	37	5	52377489	52377489	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:52377489C>T	ENST00000296585.5	+	26	3250	c.3107C>T	c.(3106-3108)tCt>tTt	p.S1036F		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1036					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TCTTCTGTATCTTTCAAAAGT	0.398000													6	20					0	0	0.278610	0	0
FRY	10129	broad.mit.edu	37	13	32841395	32841395	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr13:32841395G>A	ENST00000380250.3	+	55	8531	c.8035G>A	c.(8035-8037)Gat>Aat	p.D2679N	FRY_ENST00000542859.1_Missense_Mutation_p.D49N	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGCCTGTGACGATGCCGAGGA	0.547000													25	118					0	0	0.654019	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822323	43822323	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:43822323G>A	ENST00000389420.3	-	26	3665	c.3666C>T	c.(3664-3666)tcC>tcT	p.S1222S	ADAMTS20_ENST00000553158.1_Silent_p.S1222S|ADAMTS20_ENST00000395541.2_Silent_p.S340S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1222	TSP type-1 8.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CATGGCCACAGGAAGCTGAAC	0.313000													7	15					0	0	0.278610	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564245	176564245	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:176564245C>T	ENST00000367662.3	+	3	2669	c.1505C>T	c.(1504-1506)aCa>aTa	p.T502I	PAPPA2_ENST00000367661.3_Missense_Mutation_p.T502I	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	502	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTGGGCAAACAGTCTGTGAC	0.522000													4	39					0	0	0.184627	0	0
METTL7A	25840	broad.mit.edu	37	12	51319142	51319142	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:51319142G>A	ENST00000548553.1	+	2	1302	c.321G>A	c.(319-321)ttG>ttA	p.L107L	METTL7A_ENST00000332160.4_Silent_p.L107L			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	107						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						AGAAGTTTTTGATCAAGAGCA	0.557000													11	44					0	0	0.411799	0	0
ITGA11	22801	broad.mit.edu	37	15	68649637	68649637	+	Splice_Site	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr15:68649637C>A	ENST00000423218.2	-	7	696	c.601G>T	c.(601-603)Gtt>Ttt	p.V201F	ITGA11_ENST00000562826.1_5'UTR|ITGA11_ENST00000315757.7_Splice_Site_p.V201F			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	201	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	ACAACTCCAACCTGCAAGGGA	0.498000													17	76					2.27525e-19	2.59352e-19	0.667858	1	0
CHFR	55743	broad.mit.edu	37	12	133433181	133433181	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:133433181C>G	ENST00000266880.7	-	11	1201	c.1138G>C	c.(1138-1140)Gat>Cat	p.D380H	CHFR_ENST00000443047.2_Missense_Mutation_p.D288H|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000537522.1_Missense_Mutation_p.D2H|CHFR_ENST00000315585.7_Missense_Mutation_p.D339H|CHFR_ENST00000450056.2_Missense_Mutation_p.D368H|CHFR_ENST00000432561.2_Missense_Mutation_p.D380H			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	380					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TTTCTGGCATCCATACTTTGC	0.493000													61	199					0	0	0.870114	0	0
ACCS	84680	broad.mit.edu	37	11	44097105	44097105	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:44097105C>G	ENST00000432284.2	+	5	825	c.448C>G	c.(448-450)Ctt>Gtt	p.L150V	ACCS_ENST00000263776.8_Silent_p.L173L|ACCS_ENST00000533208.1_3'UTR			Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	348							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GTGCCTCGCTCTTCTCTGCTC	0.602000													12	74					0	0	0.479597	0	0
RFX1	5989	broad.mit.edu	37	19	14079426	14079426	+	Silent	SNP	C	C	T	rs150138140		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:14079426C>T	ENST00000254325.4	-	12	1917	c.1683G>A	c.(1681-1683)acG>acA	p.T561T		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	561					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CCGACAGCCCCGTGCTCGGCT	0.662000													21	64					0	0	0.717897	0	0
ERBB3	2065	broad.mit.edu	37	12	56482341	56482341	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:56482341G>T	ENST00000267101.3	+	8	1329	c.889G>T	c.(889-891)Gat>Tat	p.D297Y	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.D238Y	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	297					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.D297Y(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTTTGTGGTGGATCAAACATC	0.512000													41	169					4.0181e-32	4.66343e-32	0.870114	1	0
BTAF1	9044	broad.mit.edu	37	10	93749199	93749199	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:93749199C>A	ENST00000265990.6	+	20	3024	c.2716C>A	c.(2716-2718)Cag>Aag	p.Q906K		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	906					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TAAACTCCTTCAGCAGTGCAC	0.378000													9	41					1.58986e-06	1.67285e-06	0.361761	1	0
FAIM3	9214	broad.mit.edu	37	1	207087417	207087417	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:207087417G>A	ENST00000367091.3	-	2	203	c.60C>T	c.(58-60)ctC>ctT	p.L20L	FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000420007.2_Silent_p.L20L	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	20					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TTACTTCTGGGAGGATCCTCA	0.552000													19	86					0	0	0.575678	0	0
CS	1431	broad.mit.edu	37	12	56667506	56667506	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:56667506C>T	ENST00000548567.1	-	11	1367	c.897G>A	c.(895-897)ctG>ctA	p.L299L	CS_ENST00000351328.3_Silent_p.L365L|CS_ENST00000542324.2_Silent_p.L352L			O75390	CISY_HUMAN	citrate synthase	365					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		GCAGGTGTTTCAGAGCAAACT	0.468000													25	86					0	0	0.740014	0	0
C3P1	388503	broad.mit.edu	37	19	10158007	10158007	+	RNA	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:10158007C>T	ENST00000495140.1	+	0	1215																				endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CTCTGTGTCTCGGACCCCTTT	0.542000													21	144					0	0	0.706142	0	0
SCTR	6344	broad.mit.edu	37	2	120231035	120231035	+	Missense_Mutation	SNP	C	C	G	rs142755533		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:120231035C>G	ENST00000019103.5	-	4	666	c.399G>C	c.(397-399)gaG>gaC	p.E133D		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	133					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	TTACCCGCTTCTCGTTGGAAG	0.592000													12	28					0	0	0.435327	0	0
GRIN2A	2903	broad.mit.edu	37	16	9862756	9862756	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:9862756G>T	ENST00000396573.2	-	13	2856	c.2547C>A	c.(2545-2547)ttC>ttA	p.F849L	GRIN2A_ENST00000562109.1_Missense_Mutation_p.F849L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.F849L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.F849L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.F692L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.F849L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	849					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACACGCCCGTGAAACAGAAGC	0.572000													20	57					7.41877e-09	8.11826e-09	0.608945	1	0
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	C	rs104886003		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:178936091G>C	ENST00000263967.3	+	10	1790	c.1633G>C	c.(1633-1635)Gag>Cag	p.E545Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		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.E545K(881)|p.E545Q(18)		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)			TGAAATCACTGAGCAGGAGAA	0.353000	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			17	58					0	0	0.592651	0	0
HSPA1L	3305	broad.mit.edu	37	6	31777967	31777967	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:31777967C>T	ENST00000375654.4	-	2	1972	c.1783G>A	c.(1783-1785)Gat>Aat	p.D595N	HSPA1L_ENST00000417199.3_Missense_Mutation_p.D595N	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	595					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTCTTATGATCAAACTCATCT	0.448000													32	97					0	0	0.834066	0	0
DOCK7	85440	broad.mit.edu	37	1	62993831	62993831	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:62993831G>A	ENST00000251157.5	-	31	3960	c.3927C>T	c.(3925-3927)ctC>ctT	p.L1309L	DOCK7_ENST00000340370.5_Silent_p.L1278L	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1309					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CCGTTGACGTGAGGAGGAAAC	0.413000													11	58					0	0	0.411799	0	0
OSBPL9	114883	broad.mit.edu	37	1	52251500	52251500	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:52251500C>G	ENST00000371710.3	+	21	2086	c.1904C>G	c.(1903-1905)tCt>tGt	p.S635C	OSBPL9_ENST00000361556.5_Missense_Mutation_p.S507C|OSBPL9_ENST00000486942.1_Missense_Mutation_p.S439C|OSBPL9_ENST00000435686.2_Missense_Mutation_p.S452C|OSBPL9_ENST00000453295.1_Missense_Mutation_p.S600C|OSBPL9_ENST00000447887.1_Missense_Mutation_p.S627C|OSBPL9_ENST00000462759.1_Missense_Mutation_p.S439C|OSBPL9_ENST00000337809.4_Missense_Mutation_p.S622C|OSBPL9_ENST00000428468.1_Missense_Mutation_p.S617C|OSBPL9_ENST00000531828.1_Missense_Mutation_p.S452C|OSBPL9_ENST00000371714.1_Missense_Mutation_p.S604C|OSBPL9_ENST00000530544.1_Missense_Mutation_p.S536C	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	617					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						GACAAGAAGTCTTTTTGCTCA	0.383000													23	113					0	0	0.729181	0	0
OTOF	9381	broad.mit.edu	37	2	26706500	26706500	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:26706500C>T	ENST00000272371.2	-	13	1348	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	OTOF_ENST00000403946.3_Missense_Mutation_p.E408K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	408	C2 2.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCACCCCCTCGGGGAGCAGC	0.607000													7	23					0	0	0.307466	0	0
EXOC3	11336	broad.mit.edu	37	5	453801	453801	+	Silent	SNP	T	T	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:453801T>A	ENST00000512944.1	+	4	870	c.681T>A	c.(679-681)ctT>ctA	p.L227L	EXOC3_ENST00000315013.5_Silent_p.L227L	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	238					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGCGCATACTTGACCGGAAAA	0.507000													21	91					0	0	0.654019	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43750291	43750291	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:43750291G>A	ENST00000389420.3	-	38	5638	c.5639C>T	c.(5638-5640)tCa>tTa	p.S1880L		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1880	GON.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTTACCTCTGATCTTCGTAT	0.408000													5	9					0	0	0.217242	0	0
TNS1	7145	broad.mit.edu	37	2	218683208	218683208	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:218683208G>C	ENST00000171887.4	-	24	3987	c.3535C>G	c.(3535-3537)Cag>Gag	p.Q1179E	TNS1_ENST00000419504.1_Missense_Mutation_p.Q1166E|TNS1_ENST00000430930.1_Missense_Mutation_p.Q1158E	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1179						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGGCGCGCCTGAGGGCTCCCA	0.637000													11	79					0	0	0.435327	0	0
AKAP13	11214	broad.mit.edu	37	15	86205636	86205636	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr15:86205636C>G	ENST00000361243.2	+	12	4844	c.4763C>G	c.(4762-4764)tCt>tGt	p.S1588C	AKAP13_ENST00000394518.2_Intron|RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000560579.1_Intron	NM_006738.5	NP_006729.4	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1588					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGGTGCCCCTCTGGTGTGCAG	0.453000													68	125					0	0	0.870114	0	0
PSG2	5670	broad.mit.edu	37	19	43575870	43575870	+	Silent	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:43575870A>G	ENST00000406487.1	-	4	1044	c.946T>C	c.(946-948)Ttg>Ctg	p.L316L		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	316	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TTGACTGTCAACGATGTGGAG	0.458000													37	243					0	0	0.847076	0	0
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	rs121912656		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:7577547C>A	ENST00000420246.2	-	7	866	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000269305.4_Missense_Mutation_p.G245V|TP53_ENST00000455263.2_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000359597.4_Missense_Mutation_p.G245V|TP53_ENST00000445888.2_Missense_Mutation_p.G245V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and 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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CCGGTTCATGCCGCCCATGCA	0.582000		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)			21	62					1.66031e-10	1.84318e-10	0.667858	1	0
TAF1L	138474	broad.mit.edu	37	9	32632499	32632499	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:32632499G>A	ENST00000242310.4	-	1	3168	c.3079C>T	c.(3079-3081)Cgt>Tgt	p.R1027C		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1027					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCAAATTTACGTAGAAGTTGC	0.473000													42	275					0	0	0.870114	0	0
CHD9	80205	broad.mit.edu	37	16	53288443	53288443	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:53288443C>T	ENST00000566029.1	+	18	4164	c.3955C>T	c.(3955-3957)Cga>Tga	p.R1319*	CHD9_ENST00000447540.1_Nonsense_Mutation_p.R1319*|CHD9_ENST00000398510.3_Nonsense_Mutation_p.R1319*|CHD9_ENST00000564845.1_Nonsense_Mutation_p.R1319*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1319	Helicase C-terminal.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GATGTTTGACCGAGCCAGTTT	0.413000													31	176					0	0	0.760397	0	0
KCNK1	3775	broad.mit.edu	37	1	233807173	233807173	+	Missense_Mutation	SNP	C	C	T	rs149408317		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:233807173C>T	ENST00000366621.3	+	3	1076	c.908C>T	c.(907-909)tCg>tTg	p.S303L	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.S187L	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	303						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TCCTTCTCCTCGATCACAGAC	0.493000													15	31					0	0	0.479597	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650934	121650934	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:121650934G>A	ENST00000393386.2	+	12	2245	c.1834G>A	c.(1834-1836)Gaa>Aaa	p.E612K	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.E612K	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	612					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATTTTCCTCCGAAAACCCAGA	0.418000													12	33					0	0	0.479597	0	0
POU4F3	5459	broad.mit.edu	37	5	145719138	145719138	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:145719138G>C	ENST00000230732.4	+	2	237	c.148G>C	c.(148-150)Gat>Cat	p.D50H	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	50					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAAGCTTTGATGAGAGCCT	0.537000													31	46					0	0	0.788014	0	0
MLH1	4292	broad.mit.edu	37	3	37056000	37056000	+	Nonsense_Mutation	SNP	C	C	G	rs121912956		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:37056000C>G	ENST00000231790.2	+	9	971	c.755C>G	c.(754-756)tCa>tGa	p.S252*	MLH1_ENST00000536378.1_Nonsense_Mutation_p.S11*|MLH1_ENST00000455445.2_Nonsense_Mutation_p.S11*|MLH1_ENST00000435176.1_Nonsense_Mutation_p.S154*|MLH1_ENST00000539477.1_Nonsense_Mutation_p.S11*|MLH1_ENST00000458205.2_Nonsense_Mutation_p.S11*	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	252			Missing (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.S252*(2)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GCAAACTACTCAGTGAAGAAG	0.378000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				6	70					0	0	0.278610	0	0
RAE1	8480	broad.mit.edu	37	20	55948726	55948726	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr20:55948726G>C	ENST00000395841.2	+	10	1177	c.757G>C	c.(757-759)Gat>Cat	p.D253H	RAE1_ENST00000395840.2_Missense_Mutation_p.D253H|RAE1_ENST00000371242.2_Missense_Mutation_p.D253H|RAE1_ENST00000527947.1_Missense_Mutation_p.D253H	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	253					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			CAGCGCCAAAGATAACTTCAC	0.418000													65	151					0	0	0.870114	0	0
IFI44L	10964	broad.mit.edu	37	1	79102774	79102774	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:79102774C>G	ENST00000370751.5	+	6	1113	c.934C>G	c.(934-936)Ctg>Gtg	p.L312V	IFI44L_ENST00000342282.3_Missense_Mutation_p.L54V|IFI44L_ENST00000476521.1_Intron	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like							cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CTCTCCATCTCTGAAGGACAG	0.368000													29	158					0	0	0.834066	0	0
ACACB	32	broad.mit.edu	37	12	109702924	109702924	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:109702924G>C	ENST00000338432.7	+	51	7071	c.6952G>C	c.(6952-6954)Gag>Cag	p.E2318Q	ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377854.5_Missense_Mutation_p.E2248Q|ACACB_ENST00000377848.3_Missense_Mutation_p.E2318Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2318					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.E2318*(1)|p.E2318Q(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGACATCCTGGAGTGGAAGAC	0.647000													51	131					0	0	0.870114	0	0
SERPINI2	5276	broad.mit.edu	37	3	167183420	167183420	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:167183420G>C	ENST00000476257.1	-	5	818	c.520C>G	c.(520-522)Ctg>Gtg	p.L174V	SERPINI2_ENST00000264677.4_Missense_Mutation_p.L174V|SERPINI2_ENST00000471111.1_Missense_Mutation_p.L174V|SERPINI2_ENST00000461846.1_Missense_Mutation_p.L174V			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	174					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.L174V(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AGCCGAGTCAGAGGGCCAAAT	0.383000													14	37					0	0	0.557998	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52991393	52991393	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:52991393G>A	ENST00000371544.3	-	2	822	c.560C>T	c.(559-561)tCc>tTc	p.S187F	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S187F|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.S187F	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	187					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						AGAAGTAAAGGAGCTTGGAAT	0.413000													29	144					0	0	0.760397	0	0
CELSR3	1951	broad.mit.edu	37	3	48677786	48677786	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:48677786G>A	ENST00000544264.1	-	35	9527	c.9247C>T	c.(9247-9249)Cgg>Tgg	p.R3083W	CELSR3_ENST00000164024.4_Missense_Mutation_p.R3078W			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3078					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.R3078W(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCAGTTGCCGCCGGAGGAGC	0.647000													4	77					0	0	0.217242	0	0
ETFB	2109	broad.mit.edu	37	19	51856530	51856530	+	Silent	SNP	G	G	A	rs147509776		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:51856530G>A	ENST00000354232.4	-	2	2971	c.504C>T	c.(502-504)acC>acT	p.T168T	CTD-2616J11.9_ENST00000600974.1_RNA|CTD-2616J11.11_ENST00000600067.1_3'UTR|ETFB_ENST00000309244.4_Silent_p.T77T	NM_001014763.1	NP_001014763.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	77					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		TGGCCAGGGCGGTACGAATCG	0.647000													10	93					0	0	0.435327	0	0
MUC15	143662	broad.mit.edu	37	11	26587436	26587436	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:26587436A>T	ENST00000436318.2	-	2	184	c.51T>A	c.(49-51)ttT>ttA	p.F17L	ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.F17L|MUC15_ENST00000529533.1_Missense_Mutation_p.F17L|MUC15_ENST00000455601.2_5'UTR|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.F17L|ANO3_ENST00000537978.1_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	0						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTTTTTTTTTAAAGGAATCTG	0.294000													3	33					0	0	0.115264	0	0
TMEM87B	84910	broad.mit.edu	37	2	112839041	112839041	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:112839041G>C	ENST00000283206.4	+	8	1153	c.784G>C	c.(784-786)Gaa>Caa	p.E262Q		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	262						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						GGGAATGCTTGAAAAAGCAGT	0.358000													44	77					0	0	0.870114	0	0
SUPT6H	6830	broad.mit.edu	37	17	27028139	27028139	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:27028139C>T	ENST00000314616.6	+	36	5270	c.4987C>T	c.(4987-4989)Cag>Tag	p.Q1663*	SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.Q1663*	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1663					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ACGGCAGCAGCAGCCAAAGTA	0.627000													7	76					0	0	0.307466	0	0
GTPBP6	8225	broad.mit.edu	37	X	224039	224039	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chrX:224039C>A	ENST00000326153.4	-	5	727	c.728G>T	c.(727-729)gGg>gTg	p.G243V				O43824	GTPB6_HUMAN	GTP binding protein 6 (putative)	472						intracellular	GTP binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GAGCTGCGCCCCTGCGAGCCT	0.647000													4	17					0.217242	0.218383	0.217242	1	0
C4orf21	55345	broad.mit.edu	37	4	113508784	113508784	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:113508784C>G	ENST00000505019.1	-	12	3554	c.3429G>C	c.(3427-3429)caG>caC	p.Q1143H		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GCCACTTGCTCTGAGTAGATA	0.403000													12	41					0	0	0.387290	0	0
SHPRH	257218	broad.mit.edu	37	6	146256489	146256489	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:146256489C>G	ENST00000367503.3	-	12	3056	c.2658G>C	c.(2656-2658)aaG>aaC	p.K886N	SHPRH_ENST00000275233.7_Missense_Mutation_p.K886N|SHPRH_ENST00000438092.2_Missense_Mutation_p.K886N|SHPRH_ENST00000367505.2_Missense_Mutation_p.K886N	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	886					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GAGGATTCTTCTTGCAGTAAG	0.393000													14	47					0	0	0.457914	0	0
ZNF845	91664	broad.mit.edu	37	19	53854452	53854452	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:53854452C>G	ENST00000458035.1	+	4	641	c.524C>G	c.(523-525)tCa>tGa	p.S175*	ZNF845_ENST00000595091.1_Nonsense_Mutation_p.S175*	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCGTTGGTTTCAACATCCCAA	0.388000													17	55					0	0	0.520397	0	0
NAV2	89797	broad.mit.edu	37	11	20089894	20089894	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:20089894G>A	ENST00000396085.1	+	22	5294	c.4933G>A	c.(4933-4935)Gat>Aat	p.D1645N	NAV2_ENST00000540292.1_Missense_Mutation_p.D1632N|NAV2_ENST00000360655.4_Missense_Mutation_p.D1581N|NAV2_ENST00000349880.4_Missense_Mutation_p.D1645N|NAV2_ENST00000311043.8_Missense_Mutation_p.D709N|NAV2_ENST00000533917.1_Missense_Mutation_p.D709N|NAV2_ENST00000527559.2_Missense_Mutation_p.D1630N|NAV2_ENST00000396087.3_Missense_Mutation_p.D1701N	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1701	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCGGGAACTGGATGCCTCCCA	0.502000													63	127					0	0	0.870114	0	0
PDIA6	10130	broad.mit.edu	37	2	10952816	10952816	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:10952816G>A	ENST00000272227.3	-	1	154	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F	PDIA6_ENST00000540494.1_5'UTR|PDIA6_ENST00000381611.4_Intron|PDIA6_ENST00000489662.1_5'UTR|PDIA6_ENST00000404824.2_Intron|PDIA6_ENST00000404371.2_Intron	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	3					cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		AGCACCAGGAGAGCCATGCCG	0.766000													3	11					0	0	0.184627	0	0
NRIP3	56675	broad.mit.edu	37	11	9009806	9009806	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:9009806C>A	ENST00000309166.3	-	2	311	c.198G>T	c.(196-198)agG>agT	p.R66S	NRIP3_ENST00000531090.1_Missense_Mutation_p.R66S	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	66					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		CCATGAGGCGCCTCTGCAGAA	0.512000													17	56					2.94398e-08	3.19418e-08	0.557998	1	0
RUSC1	23623	broad.mit.edu	37	1	155291967	155291967	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:155291967C>T	ENST00000368352.5	+	2	554	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_Nonsense_Mutation_p.Q135*|RUSC1-AS1_ENST00000450199.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	135						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TGCCCACCCTCAGCCCAGTAT	0.622000													11	70					0	0	0.435327	0	0
JMJD7	100137047	broad.mit.edu	37	15	42129134	42129134	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr15:42129134C>T	ENST00000397299.4	+	7	898	c.858C>T	c.(856-858)atC>atT	p.I286I	PLA2G4B_ENST00000542534.2_Intron|JMJD7-PLA2G4B_ENST00000476036.1_Intron|JMJD7_ENST00000408047.1_Silent_p.I187I|JMJD7-PLA2G4B_ENST00000342159.4_Intron|JMJD7-PLA2G4B_ENST00000382448.4_Intron	NM_001114632.1	NP_001108104.1			jumonji domain containing 7											NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	8						AGGGCTGCATCGCAGGTGAAG	0.662000													7	33					0	0	0.335167	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065629	55065629	+	RNA	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:55065629G>C	ENST00000526016.1	-	0	79					NR_038174.2																						AGTTGAGGTAGAAACAGGGCC	0.488000													12	50					0	0	0.457914	0	0
SPIDR	23514	broad.mit.edu	37	8	48309024	48309024	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:48309024C>T	ENST00000297423.4	+	6	998	c.614C>T	c.(613-615)cCt>cTt	p.P205L	SPIDR_ENST00000518074.1_Missense_Mutation_p.P145L|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.P135L	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1			scaffolding protein involved in DNA repair																		TCAGAATCCCCTCACAAATAC	0.363000													14	87					0	0	0.479597	0	0
TRPM6	140803	broad.mit.edu	37	9	77376712	77376712	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:77376712G>C	ENST00000451710.3	-	27	4922	c.4685C>G	c.(4684-4686)tCt>tGt	p.S1562C	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.S1562C|TRPM6_ENST00000360774.1_Missense_Mutation_p.S1562C|TRPM6_ENST00000361255.3_Missense_Mutation_p.S1557C|TRPM6_ENST00000449912.2_Missense_Mutation_p.S1557C|TRPM6_ENST00000376872.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1562					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TATTTCTGAAGAGCCTGAAAG	0.428000													15	43					0	0	0.575678	0	0
YTHDC2	64848	broad.mit.edu	37	5	112915339	112915339	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:112915339A>G	ENST00000161863.4	+	24	3514	c.3301A>G	c.(3301-3303)Aat>Gat	p.N1101D		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1101							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AACTACAGCTAATTTGGCAGC	0.373000													61	138					0	0	0.870114	0	0
ALG9	79796	broad.mit.edu	37	11	111680410	111680410	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:111680410C>G	ENST00000398006.2	-	14	2064	c.1156G>C	c.(1156-1158)Gaa>Caa	p.E386Q	ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000531154.1_Missense_Mutation_p.E393Q|ALG9_ENST00000524880.1_3'UTR	NM_001077690.1|NM_001077691.1|NM_001077692.1	NP_001071158.1|NP_001071159.1|NP_001071160.1	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	557					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	p.E393K(1)|p.E790K(1)|p.E789K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		CTGATCCATTCTTCTTTATTG	0.388000													14	70					0	0	0.500413	0	0
TIMMDC1	51300	broad.mit.edu	37	3	119222468	119222468	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:119222468G>A	ENST00000494664.1	+	3	651		c.e3+1		TIMMDC1_ENST00000493694.1_Intron	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1							integral to membrane|mitochondrial inner membrane	protein transporter activity			autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						CTATATTCAAGTAAGTTCACT	0.418000													7	11					0	0	0.307466	0	0
SYT6	148281	broad.mit.edu	37	1	114640500	114640500	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:114640500C>G	ENST00000393296.1	-	6	1442		c.e6-1		SYT6_ENST00000610222.1_Splice_Site|SYT6_ENST00000369547.1_Splice_Site|SYT6_ENST00000609117.1_Splice_Site|SYT6_ENST00000607941.1_Splice_Site			Q5T7P8	SYT6_HUMAN	synaptotagmin VI						acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.?(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGCCCACTCTGAGGGAGAA	0.577000													15	77					0	0	0.592651	0	0
GNAT1	2779	broad.mit.edu	37	3	50231304	50231304	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:50231304C>T	ENST00000232461.3	+	5	682	c.568C>T	c.(568-570)Ctc>Ttc	p.L190F	GNAT1_ENST00000481246.1_3'UTR|GNAT1_ENST00000433068.1_Missense_Mutation_p.L190F	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	190					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CTTCAAGGATCTCAACTTCCG	0.657000													30	72					0	0	0.819951	0	0
WDR3	10885	broad.mit.edu	37	1	118496158	118496158	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:118496158G>A	ENST00000349139.5	+	21	2309	c.2262G>A	c.(2260-2262)gtG>gtA	p.V754V		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTGAAACAGTGAAAGCAGTAA	0.333000													17	40					0	0	0.592651	0	0
ZNF100	163227	broad.mit.edu	37	19	21909652	21909652	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:21909652C>G	ENST00000358296.6	-	5	1660	c.1462G>C	c.(1462-1464)Gag>Cag	p.E488Q	ZNF100_ENST00000305570.6_Missense_Mutation_p.E424Q	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						CCACATTCCTCACATTTGTAG	0.398000													11	85					0	0	0.500413	0	0
TFAP2A	7020	broad.mit.edu	37	6	10404842	10404842	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:10404842G>A	ENST00000379613.3	-	4	925	c.669C>T	c.(667-669)ctC>ctT	p.L223L	TFAP2A_ENST00000379604.2_Silent_p.L221L|TFAP2A_ENST00000319516.4_Silent_p.L217L|TFAP2A_ENST00000482890.1_Silent_p.L221L|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379608.3_Silent_p.L215L			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	221					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				AGGTGGAGCTGAGGAGCGAGA	0.622000													14	29					0	0	0.520397	0	0
KCNH4	23415	broad.mit.edu	37	17	40315715	40315715	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:40315715G>A	ENST00000264661.3	-	13	2718	c.2386C>T	c.(2386-2388)Cac>Tac	p.H796Y	KCNH4_ENST00000607371.1_Missense_Mutation_p.H796Y	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	796					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGGGGCCGTGAGGGGAGGCA	0.672000													6	20					0	0	0.335167	0	0
KCNMA1	3778	broad.mit.edu	37	10	78729810	78729810	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:78729810G>A	ENST00000286627.5	-	19	3060	c.2108C>T	c.(2107-2109)cCg>cTg	p.P703L	RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P703L|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P765L|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P761L|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P703L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P703L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P764L|KCNMA1_ENST00000286628.8_Missense_Mutation_p.P761L	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	698					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TAGTGTTGACGGCTGCTCATC	0.483000													4	67					0	0	0.184627	0	0
IL17RE	132014	broad.mit.edu	37	3	9956161	9956161	+	Silent	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:9956161C>G	ENST00000454190.2	+	14	1384	c.1299C>G	c.(1297-1299)ctC>ctG	p.L433L	IL17RE_ENST00000421412.1_Intron|IL17RE_ENST00000383814.3_Intron|IL17RE_ENST00000295980.3_Intron	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	433						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		TCCCCCAGCTCCATGCTTCAC	0.617000													20	94					0	0	0.592651	0	0
ZNF572	137209	broad.mit.edu	37	8	125987911	125987911	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:125987911C>T	ENST00000319286.5	+	2	183	c.29C>T	c.(28-30)tCa>tTa	p.S10L		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTGTTGGTCTCAGATTCTAAC	0.388000										HNSCC(60;0.17)			16	117					0	0	0.624587	0	0
ZNF292	23036	broad.mit.edu	37	6	87971379	87971379	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:87971379A>G	ENST00000369577.3	+	8	8075	c.8032A>G	c.(8032-8034)Act>Gct	p.T2678A	ZNF292_ENST00000339907.4_Missense_Mutation_p.T2673A	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2678					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAAAGATTGCACTGAGCTTGT	0.348000													7	16					0	0	0.248553	0	0
C10orf76	79591	broad.mit.edu	37	10	103783474	103783474	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:103783474G>A	ENST00000370033.4	-	7	659	c.540C>T	c.(538-540)ctC>ctT	p.L180L		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	180						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TTACATACTCGAGAATAGTGT	0.383000													26	149					0	0	0.760397	0	0
IFT88	8100	broad.mit.edu	37	13	21212522	21212522	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr13:21212522G>C	ENST00000382778.4	+	18	2583	c.1465G>C	c.(1465-1467)Gat>Cat	p.D489H	IFT88_ENST00000351808.5_Missense_Mutation_p.D480H|IFT88_ENST00000319980.6_Missense_Mutation_p.D489H|IFT88_ENST00000537103.1_Missense_Mutation_p.D461H			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	489					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TGTGAACTCTGATAGATATAA	0.338000													10	108					0	0	0.457914	0	0
OR13C5	138799	broad.mit.edu	37	9	107360932	107360932	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:107360932T>C	ENST00000374779.2	-	1	856	c.763A>G	c.(763-765)Atc>Gtc	p.I255V		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						ATGAGGAAGATGGTCCCACAG	0.438000													30	49					0	0	0.788014	0	0
XRCC1	7515	broad.mit.edu	37	19	44051059	44051059	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:44051059C>T	ENST00000262887.5	-	11	1817	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	XRCC1_ENST00000543982.1_Missense_Mutation_p.E393K			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	424					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TTGGGGGCTTCATCTCCGCTG	0.607000								Other BER factors					22	97					0	0	0.667858	0	0
IFNA16	3449	broad.mit.edu	37	9	21216778	21216778	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:21216778G>C	ENST00000380216.1	-	1	532	c.527C>G	c.(526-528)tCt>tGt	p.S176C		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	176					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGTTGAAAAAGAGAAGGATCT	0.373000													169	278					0	0	0.870114	0	0
PEAK1	79834	broad.mit.edu	37	15	77472021	77472021	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr15:77472021C>T	ENST00000560626.2	-	4	2723	c.2248G>A	c.(2248-2250)Gag>Aag	p.E750K	PEAK1_ENST00000558305.1_Missense_Mutation_p.E750K|PEAK1_ENST00000312493.4_Missense_Mutation_p.E750K			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	750					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										ATCTGAGACTCCTGAGTGCCT	0.527000													8	77					0	0	0.335167	0	0
ABCC9	10060	broad.mit.edu	37	12	22068679	22068679	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:22068679C>A	ENST00000261200.4	-	5	738	c.739G>T	c.(739-741)Gca>Tca	p.A247S	ABCC9_ENST00000261201.4_Missense_Mutation_p.A247S|ABCC9_ENST00000345162.2_Missense_Mutation_p.A247S	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	247					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTTCCAATTGCCTTCAGATCA	0.363000													92	72					9.24413e-38	1.07614e-37	0.870114	1	0
ENTHD1	150350	broad.mit.edu	37	22	40140187	40140187	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr22:40140187G>A	ENST00000325157.6	-	7	1571	c.1321C>T	c.(1321-1323)Ctg>Ttg	p.L441L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	441										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GGTCCGGCCAGAATTGGTGAT	0.458000													12	35					0	0	0.411799	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	by1000genomes	TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343000													7	78					0	0	0.307466	0	0
COL1A2	1278	broad.mit.edu	37	7	94053674	94053674	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:94053674G>A	ENST00000297268.6	+	41	3063	c.2592G>A	c.(2590-2592)caG>caA	p.Q864Q		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	864					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CAGGTCCTCAGGGTCTTCTTG	0.498000										HNSCC(75;0.22)			10	94					0	0	0.457914	0	0
SERPINB11	89778	broad.mit.edu	37	18	61377511	61377511	+	RNA	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr18:61377511C>G	ENST00000544088.1	+	0	146				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GAGATAACATCTTCTTTTCTT	0.448000													21	27					0	0	0.639603	0	0
C4orf51	646603	broad.mit.edu	37	4	146653608	146653608	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:146653608C>T	ENST00000438731.1	+	6	505	c.505C>T	c.(505-507)Cat>Tat	p.H169Y	C4orf51_ENST00000508981.1_3'UTR	NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	169										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						TCTCCAGCTTCATGGACGGTG	0.473000													6	23					0	0	0.248553	0	0
SLC2A3	6515	broad.mit.edu	37	12	8078455	8078455	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:8078455G>C	ENST00000075120.7	-	7	1191	c.951C>G	c.(949-951)atC>atG	p.I317M		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	317					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CTACAGTGAAGATAGTATTAA	0.433000													16	163					0	0	0.575678	0	0
EDC4	23644	broad.mit.edu	37	16	67912931	67912931	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:67912931C>A	ENST00000358933.5	+	12	1598	c.1359C>A	c.(1357-1359)ttC>ttA	p.F453L	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	453					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TCTCGGAGTTCCTGCTCACCC	0.592000													14	53					1.3612e-06	1.44017e-06	0.479597	1	0
LRRC8E	80131	broad.mit.edu	37	19	7965381	7965381	+	Silent	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:7965381C>G	ENST00000306708.6	+	3	2075	c.1974C>G	c.(1972-1974)ctC>ctG	p.L658L	AC010336.1_ENST00000539278.1_5'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	658						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TGGAGCAGCTCTACCTCAGCT	0.632000													7	24					0	0	0.248553	0	0
ATP2A3	489	broad.mit.edu	37	17	3831578	3831578	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:3831578C>G	ENST00000309890.7	-	21	3174	c.3024G>C	c.(3022-3024)tgG>tgC	p.W1008C	ATP2A3_ENST00000397041.3_Intron|ATP2A3_ENST00000397039.1_Intron|ATP2A3_ENST00000397043.3_Intron|ATP2A3_ENST00000397035.3_Missense_Mutation_p.W1008C|ATP2A3_ENST00000352011.3_Missense_Mutation_p.W1008C|ATP2A3_ENST00000359983.3_Missense_Mutation_p.W1008C	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	1008					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCTGCCTACTCCAGGCCTGCG	0.612000													14	57					0	0	0.539581	0	0
GLIPR1	11010	broad.mit.edu	37	12	75875733	75875733	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:75875733G>C	ENST00000266659.3	+	2	495	c.294G>C	c.(292-294)gaG>gaC	p.E98D		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	98					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						CACTGGGAGAGAACATCTGGA	0.483000													19	78					0	0	0.654019	0	0
OLFM4	10562	broad.mit.edu	37	13	53602986	53602986	+	Silent	SNP	C	C	T	rs149259735		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr13:53602986C>T	ENST00000219022.2	+	1	93	c.15C>T	c.(13-15)ctC>ctT	p.L5L		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	5					cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GGCCCGGCCTCTCATTTCTCC	0.592000													56	121					0	0	0.870114	0	0
UMODL1	89766	broad.mit.edu	37	21	43504216	43504216	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr21:43504216C>T	ENST00000400424.2	+	3	522	c.126C>T	c.(124-126)ttC>ttT	p.F42F	UMODL1_ENST00000408989.2_Silent_p.F114F|UMODL1_ENST00000400427.1_Silent_p.F42F|UMODL1_ENST00000408910.2_Silent_p.F114F	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCGGGCAGTTCACGTCAAGAC	0.562000													75	200					0	0	0.870114	0	0
FAT3	120114	broad.mit.edu	37	11	92616453	92616453	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:92616453G>A	ENST00000298047.6	+	23	12848	c.12831G>A	c.(12829-12831)cgG>cgA	p.R4277R	FAT3_ENST00000409404.2_Silent_p.R4277R|FAT3_ENST00000525166.1_Silent_p.R4127R|FAT3_ENST00000533797.1_Silent_p.R612R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4277					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGACAGCCCGGCGGGGCGTGG	0.662000										TCGA Ovarian(4;0.039)			28	96					0	0	0.760397	0	0
FHDC1	85462	broad.mit.edu	37	4	153893636	153893636	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:153893636G>A	ENST00000511601.1	+	11	1514	c.1326G>A	c.(1324-1326)ctG>ctA	p.L442L	FHDC1_ENST00000260008.3_Silent_p.L442L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	442	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CCATGAAACTGGATGAATGCT	0.393000													19	81					0	0	0.592651	0	0
CAMTA2	23125	broad.mit.edu	37	17	4873702	4873702	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:4873702C>G	ENST00000361571.5	-	16	3346	c.2935G>C	c.(2935-2937)Gag>Cag	p.E979Q	CAMTA2_ENST00000414043.3_Missense_Mutation_p.E1003Q|CAMTA2_ENST00000572543.1_Missense_Mutation_p.E985Q|CAMTA2_ENST00000358183.4_Missense_Mutation_p.E980Q|CAMTA2_ENST00000348066.3_Missense_Mutation_p.E980Q|CAMTA2_ENST00000381311.5_Missense_Mutation_p.E982Q	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	980					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GACATGGTCTCACTGAGCCCC	0.607000													20	132					0	0	0.592651	0	0
KCNH4	23415	broad.mit.edu	37	17	40323897	40323897	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:40323897G>A	ENST00000264661.3	-	7	1436	c.1104C>T	c.(1102-1104)gtC>gtT	p.V368V	KCNH4_ENST00000607371.1_Silent_p.V368V	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	368					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGAGCGCAAAGACCGACATGA	0.617000													6	62					0	0	0.278610	0	0
TAAR9	134860	broad.mit.edu	37	6	132860331	132860331	+	RNA	SNP	T	T	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:132860331T>A	ENST00000434551.1	+	0	903					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		GGTGTGTTTATTATAATTCAG	0.348000													4	12					0	0	0.184627	0	0
GON4L	54856	broad.mit.edu	37	1	155791331	155791331	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:155791331G>A	ENST00000437809.1	-	5	1019	c.897C>T	c.(895-897)atC>atT	p.I299I	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Silent_p.I299I|GON4L_ENST00000368331.1_Silent_p.I299I|GON4L_ENST00000361040.5_Silent_p.I299I	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	299					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTTCATTTGTGATTACTTCCT	0.393000													16	72					0	0	0.500413	0	0
PARP14	54625	broad.mit.edu	37	3	122437553	122437553	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:122437553C>T	ENST00000474629.2	+	14	4821	c.4555C>T	c.(4555-4557)Cga>Tga	p.R1519*	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	p.R1356*(1)|p.R1519*(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CAAGAGAGTTCGATTGGCCAA	0.398000													49	263					0	0	0.870114	0	0
KIF26B	55083	broad.mit.edu	37	1	245865906	245865906	+	Nonstop_Mutation	SNP	T	T	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:245865906T>C	ENST00000366518.4	+	12	5286	c.5182T>C	c.(5182-5184)Tag>Cag	p.*1728Q	KIF26B_ENST00000407071.2_Nonstop_Mutation_p.*2109Q			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	0	Ser-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGGCGCCGGTAGATGAGCCA	0.597000													19	55					0	0	0.729181	0	0
HYDIN	54768	broad.mit.edu	37	16	71004428	71004428	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:71004428C>T	ENST00000393567.2	-	36	5764	c.5614G>A	c.(5614-5616)Gaa>Aaa	p.E1872K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1872										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTCACCTTTTCTTCTATGAGA	0.418000													13	40					0	0	0.557998	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39253806	39253806	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:39253806G>A	ENST00000333822.4	-	1	587	c.531C>T	c.(529-531)ccC>ccT	p.P177P		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	177						keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						CGCAGCACACGGGGCGGGGGC	0.622000													5	4					0	0	0.278610	0	0
ADARB2	105	broad.mit.edu	37	10	1405318	1405318	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:1405318G>A	ENST00000381312.1	-	3	1307	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	328	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCCTGACCCCGGGCCAGCTTC	0.726000													5	9					0	0	0.278610	0	0
GNB3	2784	broad.mit.edu	37	12	6952355	6952355	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:6952355C>T	ENST00000229264.3	+	6	626	c.221C>T	c.(220-222)tCg>tTg	p.S74L	GNB3_ENST00000435982.2_Missense_Mutation_p.S74L	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	74					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GTAAGTGCCTCGCAAGATGGG	0.612000													33	219					0	0	0.812448	0	0
PTPN9	5780	broad.mit.edu	37	15	75819584	75819584	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr15:75819584C>T	ENST00000306726.2	-	2	594	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	CTD-2323K18.1_ENST00000568707.1_RNA	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	28						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTAATCTCTTCGAGAAACTGC	0.398000													6	63					0	0	0.248553	0	0
GTF2H1	2965	broad.mit.edu	37	11	18362845	18362845	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:18362845G>C	ENST00000265963.4	+	6	805	c.645G>C	c.(643-645)atG>atC	p.M215I	GTF2H1_ENST00000524753.4_Missense_Mutation_p.M11I|GTF2H1_ENST00000453096.2_Missense_Mutation_p.M215I|GTF2H1_ENST00000534641.1_Missense_Mutation_p.M99I	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	215	BSD 2.				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						CCCACAACATGACAGAGAAGG	0.358000								Nucleotide excision repair (NER)					22	59					0	0	0.654019	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31132288	31132288	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:31132288G>T	ENST00000304166.4	+	13	1274	c.985G>T	c.(985-987)Gtc>Ttc	p.V329F	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.V308F|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.V329F|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.V329F	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	329					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGGCATTATCGTCATCCTTGT	0.428000													15	73					4.7546e-09	5.2328e-09	0.500413	1	0
XRCC1	7515	broad.mit.edu	37	19	44050093	44050093	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:44050093C>T	ENST00000262887.5	-	14	2045	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K	XRCC1_ENST00000543982.1_Missense_Mutation_p.E469K			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	500					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				AGTCTGTGTTCCTTCTGCTCT	0.627000								Other BER factors					4	35					0	0	0.184627	0	0
HUS1	3364	broad.mit.edu	37	7	48004979	48004979	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:48004979G>A	ENST00000258774.5	-	8	840	c.817C>T	c.(817-819)Cag>Tag	p.Q273*	HUS1_ENST00000432325.1_Nonsense_Mutation_p.Q252*	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	273					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				ATGAAATACTGAAGGGACACG	0.483000								Direct reversal of damage;Other conserved DNA damage response genes					33	115					0	0	0.819951	0	0
EPG5	57724	broad.mit.edu	37	18	43510647	43510647	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr18:43510647A>G	ENST00000282041.5	-	12	2441	c.2407T>C	c.(2407-2409)Tat>Cat	p.Y803H		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	803					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTAACCTCATATATCTCCAGA	0.358000													23	29					0	0	0.717897	0	0
MYPOP	339344	broad.mit.edu	37	19	46393972	46393972	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:46393972G>A	ENST00000322217.5	-	3	1195	c.1109C>T	c.(1108-1110)cCa>cTa	p.P370L		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	370	Pro-rich.					nucleus	DNA binding	p.A371fs*>30(1)		large_intestine(2)|lung(1)|skin(1)	4						GAGCGGGGCTGGGGGGGGCCG	0.662000													3	9					0	0	0.115264	0	0
METTL7A	25840	broad.mit.edu	37	12	51319031	51319031	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:51319031G>A	ENST00000548553.1	+	2	1191	c.210G>A	c.(208-210)ggG>ggA	p.G70G	METTL7A_ENST00000332160.4_Silent_p.G70G			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	70						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						GCCCCTCCGGGAAACTCTCCC	0.562000													4	24					0	0	0.184627	0	0
PHKA1	5255	broad.mit.edu	37	X	71840611	71840611	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chrX:71840611A>C	ENST00000339490.3	-	19	2401	c.2101T>G	c.(2101-2103)Tcc>Gcc	p.S701A	PHKA1_ENST00000373542.4_Missense_Mutation_p.S701A|PHKA1_ENST00000541944.1_Intron|PHKA1_ENST00000373539.3_Missense_Mutation_p.S701A|PHKA1_ENST00000373545.3_Intron	NM_001122670.1	NP_001116142.1	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	701					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GTCACCAAGGACATTAAGTCG	0.552000													5	38					0	0	0.217242	0	0
L1CAM	3897	broad.mit.edu	37	X	153131202	153131202	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chrX:153131202G>A	ENST00000370060.1	-	20	2693	c.2504C>T	c.(2503-2505)cCg>cTg	p.P835L	L1CAM_ENST00000370057.3_Missense_Mutation_p.P835L|L1CAM_ENST00000361699.4_Missense_Mutation_p.P835L|L1CAM_ENST00000543994.1_Missense_Mutation_p.P837L|L1CAM_ENST00000361981.3_Missense_Mutation_p.P830L|L1CAM_ENST00000538883.1_Missense_Mutation_p.P837L|L1CAM_ENST00000370055.1_Missense_Mutation_p.P830L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	835	Fibronectin type-III 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGTCCACCGGCCGCCACTT	0.587000													35	98					0	0	0.870114	0	0
EDC4	23644	broad.mit.edu	37	16	67912685	67912685	+	Silent	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:67912685C>G	ENST00000358933.5	+	11	1469	c.1230C>G	c.(1228-1230)ctC>ctG	p.L410L	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	410					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CCCCTAGCCTCAAGGTTTGCT	0.517000													38	252					0	0	0.870114	0	0
ENTHD1	150350	broad.mit.edu	37	22	40139982	40139982	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr22:40139982G>C	ENST00000325157.6	-	7	1776	c.1526C>G	c.(1525-1527)tCt>tGt	p.S509C		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	509										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GTGACTACTAGAAATGTGACT	0.433000													9	35					0	0	0.307466	0	0
PLEC	5339	broad.mit.edu	37	8	144991923	144991923	+	Silent	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:144991923G>T	ENST00000322810.4	-	32	12646	c.12477C>A	c.(12475-12477)ctC>ctA	p.L4159L	PLEC_ENST00000357649.2_Silent_p.L4026L|PLEC_ENST00000354589.3_Silent_p.L4022L|PLEC_ENST00000345136.3_Silent_p.L4022L|PLEC_ENST00000356346.3_Silent_p.L4008L|PLEC_ENST00000398774.2_Silent_p.L3990L|PLEC_ENST00000527096.1_Silent_p.L4045L|PLEC_ENST00000354958.2_Silent_p.L4000L|PLEC_ENST00000436759.2_Silent_p.L4049L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4159	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGAGGGAGATGAGCTTCCCAG	0.632000													12	54					2.61681e-11	2.92198e-11	0.457914	1	0
ANKRD11	29123	broad.mit.edu	37	16	89351727	89351727	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:89351727G>C	ENST00000301030.4	-	9	1683	c.1223C>G	c.(1222-1224)tCa>tGa	p.S408*	ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.S408*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	408						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGACGTGTCTGACAGGATACG	0.468000													7	62					0	0	0.278610	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794528	15794528	+	Silent	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:15794528C>G	ENST00000550308.1	+	7	1253	c.873C>G	c.(871-873)gcC>gcG	p.A291A	CYP4F12_ENST00000324632.10_Silent_p.A291A	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					AAGACAAAGCCAAGTCCAAGA	0.488000													21	85					0	0	0.667858	0	0
MTERFD3	80298	broad.mit.edu	37	12	107372423	107372423	+	Missense_Mutation	SNP	G	G	C	rs139694986	byFrequency	TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:107372423G>C	ENST00000552029.1	-	2	2138	c.70C>G	c.(70-72)Cca>Gca	p.P24A	C12orf23_ENST00000551237.1_3'UTR|MTERFD3_ENST00000240050.4_Missense_Mutation_p.P24A|MTERFD3_ENST00000392830.2_Missense_Mutation_p.P24A			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						CTGTATTTTGGAGGTGATCGC	0.433000													6	47					0	0	0.217242	0	0
DALRD3	55152	broad.mit.edu	37	3	49055271	49055271	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:49055271C>T	ENST00000341949.4	-	3	499	c.493G>A	c.(493-495)Gat>Aat	p.D165N	DALRD3_ENST00000395462.4_5'UTR|DALRD3_ENST00000313778.5_5'UTR|DALRD3_ENST00000496568.1_5'UTR|DALRD3_ENST00000440857.1_5'UTR|DALRD3_ENST00000441576.2_Missense_Mutation_p.D165N	NM_001009996.1	NP_001009996.1	Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	165					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATGTGCGGATCCCGCACAGCT	0.672000													5	20					0	0	0.217242	0	0
HOXD3	3232	broad.mit.edu	37	2	177034235	177034235	+	Silent	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:177034235C>A	ENST00000468418.3	+	3	2483	c.393C>A	c.(391-393)ccC>ccA	p.P131P	HOXD3_ENST00000249440.3_Silent_p.P131P|HOXD3_ENST00000410016.1_Silent_p.P131P			P31249	HXD3_HUMAN	homeobox D3	131					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		catcttcacccACCAATCCTG	0.627000													10	61					3.86212e-05	4.0305e-05	0.361761	1	0
KIAA1432	57589	broad.mit.edu	37	9	5746003	5746003	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:5746003G>A	ENST00000414202.2	+	11	1359	c.1168G>A	c.(1168-1170)Gac>Aac	p.D390N	KIAA1432_ENST00000381532.2_Missense_Mutation_p.D311N|KIAA1432_ENST00000449720.2_Missense_Mutation_p.D311N|KIAA1432_ENST00000418622.3_Missense_Mutation_p.D311N|KIAA1432_ENST00000251879.6_Missense_Mutation_p.D390N	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	390						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AATTGAGTCTGACCTCAGGAG	0.408000													21	126					0	0	0.681144	0	0
IPCEF1	26034	broad.mit.edu	37	6	154521101	154521101	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:154521101G>T	ENST00000265198.4	-	10	763	c.608C>A	c.(607-609)aCa>aAa	p.T203K	OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000422970.2_Missense_Mutation_p.T204K|IPCEF1_ENST00000367220.4_Missense_Mutation_p.T204K|IPCEF1_ENST00000519344.1_Missense_Mutation_p.T175K|IPCEF1_ENST00000519091.1_5'UTR	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						TGTCTTCACTGTATTTTCCAG	0.433000													8	91					0.00621372	0.0063294	0.335167	1	0
TMCO1	54499	broad.mit.edu	37	1	165737466	165737466	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:165737466C>G	ENST00000367881.5	-	2	539	c.264G>C	c.(262-264)aaG>aaC	p.K88N	TMCO1_ENST00000580248.1_5'UTR|TMCO1_ENST00000392129.6_Missense_Mutation_p.K37N|TMCO1_ENST00000464650.1_5'UTR			Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	37						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCTTCAGTCTCTTGTACTTGT	0.363000													6	41					0	0	0.278610	0	0
SKAP1	8631	broad.mit.edu	37	17	46247987	46247987	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:46247987G>A	ENST00000336915.6	-	10	930	c.861C>T	c.(859-861)ggC>ggT	p.G287G	SKAP1_ENST00000584924.1_Silent_p.G287G	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	287					positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TTCGTCGAGTGCCACTCTCAT	0.408000													6	179					0	0	0.307466	0	0
TEX14	56155	broad.mit.edu	37	17	56665024	56665024	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:56665024C>G	ENST00000389934.3	-	17	2823	c.2706G>C	c.(2704-2706)atG>atC	p.M902I	TEX14_ENST00000240361.8_Missense_Mutation_p.M908I|TEX14_ENST00000349033.5_Missense_Mutation_p.M902I	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	908						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTTCCACACTCATCCTGAATT	0.438000											OREG0024616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	39					0	0	0.740014	0	0
SVIL	6840	broad.mit.edu	37	10	29840096	29840096	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:29840096G>A	ENST00000375398.2	-	8	706	c.257C>T	c.(256-258)tCa>tTa	p.S86L	SVIL_ENST00000355867.4_Missense_Mutation_p.S86L|SVIL_ENST00000375400.3_Missense_Mutation_p.S86L			O95425	SVIL_HUMAN	supervillin	86	Interaction with MYLK (By similarity).				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACCATAGGGTGAGTCACCGTG	0.493000													16	95					0	0	0.557998	0	0
SENP1	29843	broad.mit.edu	37	12	48482596	48482596	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:48482596C>T	ENST00000004980.5	-	5	846	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	SENP1_ENST00000549595.1_Missense_Mutation_p.R123Q|SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549518.1_Missense_Mutation_p.R123Q|SENP1_ENST00000551330.1_Missense_Mutation_p.R123Q|SENP1_ENST00000448372.1_Missense_Mutation_p.R123Q|SENP1_ENST00000547886.1_5'UTR			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	123	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TGAGGTCTTTCGGGTTTCGAG	0.403000													5	6					0	0	0.248553	0	0
MYCBP2	23077	broad.mit.edu	37	13	77786175	77786175	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr13:77786175G>T	ENST00000407578.2	-	22	3444	c.3178C>A	c.(3178-3180)Caa>Aaa	p.Q1060K	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.Q1022K|MYCBP2_ENST00000357337.6_Missense_Mutation_p.Q1022K	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1022					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AAAAAAGTTTGGTCCCCACTT	0.358000													5	57					0.000602214	0.000616706	0.184627	1	0
CDH19	28513	broad.mit.edu	37	18	64212042	64212042	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr18:64212042C>T	ENST00000262150.2	-	6	1166	c.874G>A	c.(874-876)Gat>Aat	p.D292N	CDH19_ENST00000540086.1_Missense_Mutation_p.D292N	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	292	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATGCTGTAATCCATTTCTGCA	0.353000													33	30					0	0	0.779181	0	0
ABCC3	8714	broad.mit.edu	37	17	48753883	48753883	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:48753883C>G	ENST00000285238.8	+	23	3392	c.3312C>G	c.(3310-3312)atC>atG	p.I1104M		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1104	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TTGTGGTCATCATGGCCAGCA	0.567000													26	122					0	0	0.740014	0	0
COL13A1	1305	broad.mit.edu	37	10	71562459	71562459	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:71562459C>T	ENST00000356340.3	+	1	816	c.280C>T	c.(280-282)Caa>Taa	p.Q94*	COL13A1_ENST00000354547.3_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000398968.3_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000517713.1_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000520267.1_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000398966.3_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000398964.3_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000398978.3_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000520133.1_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000398969.3_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000398972.3_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000398971.3_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000357811.3_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000398974.3_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000398973.3_Nonsense_Mutation_p.Q94*|COL13A1_ENST00000522165.1_Nonsense_Mutation_p.Q94*			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	94	Nonhelical region 1 (NC1).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	ACGAGTCAATCAACTGCTGGA	0.662000													32	404					0	0	0.779181	0	0
DNAH2	146754	broad.mit.edu	37	17	7673955	7673955	+	Silent	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:7673955C>G	ENST00000572933.1	+	26	5639	c.4179C>G	c.(4177-4179)ctC>ctG	p.L1393L	DNAH2_ENST00000389173.2_Silent_p.L1393L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1393	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATCATCGGCTCAGGTCAGGGG	0.542000													17	104					0	0	0.539581	0	0
TNPO2	30000	broad.mit.edu	37	19	12829859	12829859	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:12829859G>A	ENST00000425528.1	-	5	666	c.309C>T	c.(307-309)ctC>ctT	p.L103L	TNPO2_ENST00000450764.2_Silent_p.L103L|TNPO2_ENST00000588216.1_Silent_p.L103L|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000441499.1_Silent_p.L103L|TNPO2_ENST00000592287.1_Silent_p.L103L|TNPO2_ENST00000356861.5_Silent_p.L103L			O14787	TNPO2_HUMAN	transportin 2	103					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGCTCGGATGAGCGAGGAGG	0.532000													31	131					0	0	0.804634	0	0
ZNF12	7559	broad.mit.edu	37	7	6730881	6730881	+	Silent	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:6730881G>C	ENST00000405858.1	-	5	2233	c.1692C>G	c.(1690-1692)ctC>ctG	p.L564L	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Silent_p.L526L|ZNF12_ENST00000404360.1_Silent_p.L490L	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	564					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GATGTATAGTGAGGTATGACA	0.408000													15	58					0	0	0.575678	0	0
POLE	5426	broad.mit.edu	37	12	133252767	133252767	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:133252767C>G	ENST00000320574.5	-	10	976	c.933G>C	c.(931-933)gaG>gaC	p.E311D	POLE_ENST00000535270.1_Missense_Mutation_p.E284D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	311					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CTGAAACAATCTCCCTGTTGG	0.478000								DNA polymerases (catalytic subunits)					7	68					0	0	0.307466	0	0
KIF4B	285643	broad.mit.edu	37	5	154395261	154395261	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:154395261G>A	ENST00000435029.4	+	1	2002	c.1842G>A	c.(1840-1842)aaG>aaA	p.K614K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	614					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.K614N(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATCTGAAGAAGAAACTGAATG	0.463000													29	54					0	0	0.796494	0	0
DNAJB4	11080	broad.mit.edu	37	1	78479241	78479241	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:78479241C>A	ENST00000370763.5	+	2	975	c.718C>A	c.(718-720)Cat>Aat	p.H240N	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	240					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						AGACAAAGATCATCCAAAATT	0.323000													20	92					9.57634e-11	1.0662e-10	0.654019	1	0
SSUH2	51066	broad.mit.edu	37	3	8667307	8667307	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:8667307G>T	ENST00000317371.4	-	17	1953	c.728C>A	c.(727-729)tCt>tAt	p.S243Y	SSUH2_ENST00000544814.1_Missense_Mutation_p.S265Y|SSUH2_ENST00000341795.3_Missense_Mutation_p.S243Y|SSUH2_ENST00000415132.1_Missense_Mutation_p.S243Y					ssu-2 homolog (C. elegans)																		CCGGTGCTCAGACACAAACTC	0.498000													14	92					1.99824e-07	2.13778e-07	0.520397	1	0
FANCD2	2177	broad.mit.edu	37	3	10094121	10094121	+	Silent	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:10094121C>G	ENST00000287647.3	+	18	1689	c.1596C>G	c.(1594-1596)ctC>ctG	p.L532L	FANCD2_ENST00000383807.1_Silent_p.L532L|FANCD2_ENST00000383806.1_Silent_p.L532L|FANCD2_ENST00000419585.1_Silent_p.L532L	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	532					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TACGAAAACTCTTCTATGTTC	0.393000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				13	120					0	0	0.520397	0	0
WDR3	10885	broad.mit.edu	37	1	118496687	118496687	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:118496687G>A	ENST00000349139.5	+	22	2373	c.2326G>A	c.(2326-2328)Gaa>Aaa	p.E776K	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AAAAATGAAGGAACACAAAGC	0.398000													25	56					0	0	0.788014	0	0
UQCRC2	7385	broad.mit.edu	37	16	21985248	21985248	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:21985248C>G	ENST00000268379.4	+	11	1762	c.998C>G	c.(997-999)tCt>tGt	p.S333C	UQCRC2_ENST00000561553.1_Missense_Mutation_p.S333C	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	333					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		TACTCAGATTCTGGACTCTTT	0.388000													14	57					0	0	0.479597	0	0
CST1	1469	broad.mit.edu	37	20	23731323	23731323	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr20:23731323C>G	ENST00000304749.2	-	1	251	c.181G>C	c.(181-183)Gat>Cat	p.D61H	CST1_ENST00000398402.1_Missense_Mutation_p.D61H	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	61						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					TAGTAGTCATCTTTGGTGGCC	0.567000													35	65					0	0	0.840704	0	0
COL11A1	1301	broad.mit.edu	37	1	103483426	103483426	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:103483426G>A	ENST00000358392.2	-	11	1716	c.1399C>T	c.(1399-1401)Cct>Tct	p.P467S	COL11A1_ENST00000370096.3_Missense_Mutation_p.P455S|COL11A1_ENST00000512756.1_Missense_Mutation_p.P339S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P416S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	455	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGACCTGGAGGACCCATAATA	0.418000													44	94					0	0	0.870114	0	0
OGDH	4967	broad.mit.edu	37	7	44734097	44734097	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:44734097C>T	ENST00000222673.5	+	12	1632	c.1590C>T	c.(1588-1590)atC>atT	p.I530I	OGDH_ENST00000543843.1_Silent_p.I481I|OGDH_ENST00000447398.1_Silent_p.I541I|OGDH_ENST00000444676.1_Silent_p.I545I|OGDH_ENST00000449767.1_Silent_p.I526I|OGDH_ENST00000439616.2_Silent_p.I380I	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	530					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	ACAAGCAGATCCGCAAGCAGA	0.572000													25	61					0	0	0.729181	0	0
PDE11A	50940	broad.mit.edu	37	2	178936390	178936390	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:178936390C>G	ENST00000286063.6	-	1	1092	c.775G>C	c.(775-777)Gat>Cat	p.D259H	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A		GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GCATGCACATCAAAGAATTTG	0.532000									Primary Pigmented Nodular Adrenocortical Disease, Familial				14	32					0	0	0.457914	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834138	125834138	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:125834138A>G	ENST00000299308.3	+	2	201	c.193A>G	c.(193-195)Agt>Ggt	p.S65G	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	65						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AAGGAACTCCAGTCTGCAGGC	0.522000													22	137					0	0	0.729181	0	0
ZNF281	23528	broad.mit.edu	37	1	200377122	200377122	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:200377122C>T	ENST00000294740.3	-	2	1836	c.1712G>A	c.(1711-1713)gGt>gAt	p.G571D	ZNF281_ENST00000367353.1_Missense_Mutation_p.G571D|ZNF281_ENST00000367352.3_Missense_Mutation_p.G535D	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						AACACTGACACCTGCAGACTG	0.413000													5	18					0	0	0.248553	0	0
SNX20	124460	broad.mit.edu	37	16	50709713	50709713	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:50709713G>C	ENST00000300590.3	-	3	422	c.250C>G	c.(250-252)Cgc>Ggc	p.R84G	SNX20_ENST00000423026.2_Missense_Mutation_p.R84G|SNX20_ENST00000330943.4_Missense_Mutation_p.R84G	NM_153337.2	NP_699168.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	84	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TCCTCGATGCGAGCTGAAGCG	0.512000													17	115					0	0	0.608945	0	0
ACOT8	10005	broad.mit.edu	37	20	44477114	44477114	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr20:44477114C>G	ENST00000217455.4	-	3	553	c.463G>C	c.(463-465)Gag>Cag	p.E155Q		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	155					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				ATGAGGGTCTCACAGTCAAGC	0.537000													48	312					0	0	0.870114	0	0
CYB5A	1528	broad.mit.edu	37	18	71920849	71920849	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr18:71920849C>G	ENST00000340533.4	-	5	515	c.375G>C	c.(373-375)ttG>ttC	p.L125F	CYB5A_ENST00000494131.2_3'UTR|CYB5A_ENST00000299438.9_Missense_Mutation_p.L51F|CYB5A_ENST00000579064.1_5'UTR|CYB5A_ENST00000397914.4_Missense_Mutation_p.L115F	NM_148923.3	NP_683725.1	P00167	CYB5_HUMAN	cytochrome b5 type A (microsomal)	125					electron transport chain|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane	aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)	4		Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211)			Methoxyflurane(DB01028)	GGCGATACATCAAGGCGACGG	0.512000													3	55					0	0	0.115264	0	0
NTNG1	22854	broad.mit.edu	37	1	108023313	108023313	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:108023313G>T	ENST00000370067.1	+	7	1861	c.1234G>T	c.(1234-1236)Gca>Tca	p.A412S	NTNG1_ENST00000370073.2_Missense_Mutation_p.A491S|NTNG1_ENST00000370074.4_Missense_Mutation_p.A390S|NTNG1_ENST00000370071.2_Missense_Mutation_p.A432S|NTNG1_ENST00000370072.3_Missense_Mutation_p.A446S|NTNG1_ENST00000370066.1_Missense_Mutation_p.A432S|NTNG1_ENST00000370068.1_Missense_Mutation_p.A491S|NTNG1_ENST00000370061.3_Missense_Mutation_p.A457S|NTNG1_ENST00000370065.1_Missense_Mutation_p.A446S|NTNG1_ENST00000542803.1_Missense_Mutation_p.A491S|NTNG1_ENST00000370070.2_Missense_Mutation_p.A412S			Q9Y2I2	NTNG1_HUMAN	netrin G1	443	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GTGCCCGGCCGCATACACGGG	0.687000													7	50					1.58986e-06	1.67285e-06	0.361761	1	0
ZNF12	7559	broad.mit.edu	37	7	6730858	6730858	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:6730858G>A	ENST00000405858.1	-	5	2256	c.1715C>T	c.(1714-1716)tCa>tTa	p.S572L	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.S534L|ZNF12_ENST00000404360.1_Missense_Mutation_p.S498L	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	572					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CTTCTCTCCTGAATGAATTCT	0.413000													16	65					0	0	0.608945	0	0
TM6SF1	53346	broad.mit.edu	37	15	83776476	83776476	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr15:83776476C>T	ENST00000322019.9	+	1	318	c.44C>T	c.(43-45)tCg>tTg	p.S15L	TM6SF1_ENST00000565774.1_Missense_Mutation_p.S15L|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000379386.4_Missense_Mutation_p.S15L|TM6SF1_ENST00000379390.6_Missense_Mutation_p.S15L			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	15						integral to membrane		p.S15W(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTGTCCCTCTCGGCCATCCCG	0.736000													3	15					0	0	0.115264	0	0
CRB1	23418	broad.mit.edu	37	1	197297651	197297651	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:197297651C>T	ENST00000367400.3	+	2	305	c.170C>T	c.(169-171)tCa>tTa	p.S57L	CRB1_ENST00000535699.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.S57L|CRB1_ENST00000367399.2_Missense_Mutation_p.S57L	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	57	EGF-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGTTCTTGTTCAGACACAGCC	0.403000													9	44					0	0	0.307466	0	0
CCDC81	60494	broad.mit.edu	37	11	86133623	86133623	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:86133623G>A	ENST00000278487.3	+	14	2109	c.1030G>A	c.(1030-1032)Gac>Aac	p.D344N	CCDC81_ENST00000445632.2_Missense_Mutation_p.D609N|CCDC81_ENST00000354755.1_Missense_Mutation_p.D519N|CCDC81_ENST00000528728.1_Missense_Mutation_p.D344N			Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	609										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CAGGGCTTCAGACAAGCTGTT	0.562000													28	76					0	0	0.769981	0	0
OBSCN	84033	broad.mit.edu	37	1	228522218	228522218	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:228522218G>A	ENST00000570156.2	+	71	19005	c.18931G>A	c.(18931-18933)Gat>Aat	p.D6311N	OBSCN_ENST00000284548.11_Missense_Mutation_p.D5354N|OBSCN_ENST00000366709.4_Missense_Mutation_p.D2473N|OBSCN_ENST00000422127.1_Missense_Mutation_p.D5354N|OBSCN_ENST00000366707.4_Missense_Mutation_p.D2988N	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5354					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TTCAGGCCCTGATGAGCCAGA	0.662000													4	8					0	0	0.184627	0	0
MUC16	94025	broad.mit.edu	37	19	9086461	9086461	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:9086461G>T	ENST00000397910.4	-	1	5557	c.5354C>A	c.(5353-5355)tCa>tAa	p.S1785*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1785	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCCTTGCTGAAGACTTGGA	0.468000													15	55					3.57192e-18	4.04748e-18	0.539581	1	0
MTERF	7978	broad.mit.edu	37	7	91503486	91503486	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:91503486G>C	ENST00000419292.1	-	2	638	c.562C>G	c.(562-564)Ctt>Gtt	p.L188V	MTERF_ENST00000406735.2_Missense_Mutation_p.L188V|MTERF_ENST00000351870.3_Missense_Mutation_p.L208V			Q99551	MTERF_HUMAN	mitochondrial transcription termination factor	208					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			TTCAGATCAAGACTATTGGAG	0.383000													12	66					0	0	0.411799	0	0
NFASC	23114	broad.mit.edu	37	1	204985457	204985457	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:204985457G>A	ENST00000367172.4	+	32	4162	c.3834G>A	c.(3832-3834)ctG>ctA	p.L1278L	NFASC_ENST00000338515.6_Silent_p.L1188L|NFASC_ENST00000404907.1_Silent_p.L1105L|NFASC_ENST00000338586.6_Silent_p.L1155L|NFASC_ENST00000401399.1_Silent_p.L1171L|NFASC_ENST00000339876.6_Silent_p.L1171L|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000404076.1_Silent_p.L1088L|NFASC_ENST00000367170.4_Silent_p.L1199L|NFASC_ENST00000539706.1_Silent_p.L1105L|NFASC_ENST00000367171.4_Silent_p.L1263L|NFASC_ENST00000513543.1_Silent_p.L1100L|NFASC_ENST00000367169.4_Silent_p.L1002L|NFASC_ENST00000360049.4_Silent_p.L1100L			O94856	NFASC_HUMAN	neurofascin	1278					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACAAGCCCCTGCAGGGCAGTC	0.592000													54	156					0	0	0.870114	0	0
DSCAML1	57453	broad.mit.edu	37	11	117391942	117391942	+	Silent	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:117391942G>T	ENST00000321322.6	-	6	1297	c.1296C>A	c.(1294-1296)ctC>ctA	p.L432L	DSCAML1_ENST00000527706.1_Silent_p.L162L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	372	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCGAGGTGATGAGCAGCGTCT	0.637000													44	117					2.27781e-18	2.58873e-18	0.870114	1	0
ZMYM4	9202	broad.mit.edu	37	1	35864515	35864515	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:35864515C>T	ENST00000314607.6	+	22	3384	c.3304C>T	c.(3304-3306)Cca>Tca	p.P1102S	ZMYM4_ENST00000373297.2_Missense_Mutation_p.P1013S	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1102					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGTATCTACTCCACATAGCTG	0.398000													14	84					0	0	0.575678	0	0
F5	2153	broad.mit.edu	37	1	169551671	169551671	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:169551671G>A	ENST00000367796.3	-	2	449	c.248C>T	c.(247-249)tCa>tTa	p.S83L	F5_ENST00000546081.1_Intron|F5_ENST00000367797.3_Missense_Mutation_p.S83L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	83	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGGCTTACCTGAAATGGTAGA	0.264000													8	16					0	0	0.278610	0	0
ACOX1	51	broad.mit.edu	37	17	73974647	73974647	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:73974647G>A	ENST00000537812.1	-	2	771	c.123C>T	c.(121-123)atC>atT	p.I41I	ACOX1_ENST00000301608.4_Silent_p.I79I|ACOX1_ENST00000591857.1_5'UTR|ACOX1_ENST00000293217.5_Silent_p.I79I	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	79					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						CAGGGTCAGCGATGCCAAACT	0.473000													26	132					0	0	0.740014	0	0
STRC	161497	broad.mit.edu	37	15	43910137	43910137	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr15:43910137C>T	ENST00000450892.2	-	2	559	c.482G>A	c.(481-483)tGc>tAc	p.C161Y	STRC_ENST00000541030.1_5'UTR	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	161					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ATCACGGGTGCATGGGGGCCG	0.637000													13	122					0	0	0.557998	0	0
USP51	158880	broad.mit.edu	37	X	55514287	55514287	+	Silent	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chrX:55514287C>G	ENST00000500968.3	-	2	1168	c.1086G>C	c.(1084-1086)ctG>ctC	p.L362L	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	362					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TTAGCCCTCTCAGGCCTACAG	0.403000													20	32					0	0	0.624587	0	0
WTIP	126374	broad.mit.edu	37	19	34983976	34983976	+	Silent	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:34983976G>C	ENST00000590071.2	+	3	1141	c.804G>C	c.(802-804)gtG>gtC	p.V268V	WTIP_ENST00000270288.6_Silent_p.V492V	NM_001080436.1	NP_001073905.1			Wilms tumor 1 interacting protein											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TCTACAACGTGGGTGAGAAAG	0.627000													23	134					0	0	0.693898	0	0
SYF2	25949	broad.mit.edu	37	1	25551554	25551554	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:25551554G>A	ENST00000236273.4	-	6	530	c.505C>T	c.(505-507)Cat>Tat	p.H169Y	SYF2_ENST00000354361.3_Missense_Mutation_p.H127Y	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	169						catalytic step 2 spliceosome				kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		TGTGTTCCATGAAGAAGACTA	0.373000													33	79					0	0	0.847076	0	0
TTC13	79573	broad.mit.edu	37	1	231076227	231076227	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:231076227G>A	ENST00000366661.4	-	7	755	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	TTC13_ENST00000366662.4_Missense_Mutation_p.R197W|TTC13_ENST00000414259.1_Missense_Mutation_p.R197W	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	250							binding	p.R250W(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CTGTACAGCCGTGCTGAGGGC	0.423000													12	52					0	0	0.457914	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156638380	156638380	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:156638380C>T	ENST00000296518.7	+	8	1851	c.1642C>T	c.(1642-1644)Cag>Tag	p.Q548*	GUCY1A3_ENST00000511108.1_Nonsense_Mutation_p.Q548*|GUCY1A3_ENST00000393832.3_Nonsense_Mutation_p.Q290*|GUCY1A3_ENST00000455639.2_Nonsense_Mutation_p.Q548*|GUCY1A3_ENST00000506455.1_Nonsense_Mutation_p.Q548*|GUCY1A3_ENST00000511507.1_Nonsense_Mutation_p.Q548*|GUCY1A3_ENST00000513574.1_Nonsense_Mutation_p.Q548*			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	548	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TCATGCTGTTCAGATAGCGCT	0.423000													14	54					0	0	0.520397	0	0
ANK2	287	broad.mit.edu	37	4	114275328	114275328	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:114275328G>T	ENST00000357077.4	+	38	5607	c.5554G>T	c.(5554-5556)Gag>Tag	p.E1852*	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.E1819*|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1819	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AAGTAAAACTGAGAAACACTC	0.478000													46	137					3.40343e-31	3.9381e-31	0.870114	1	0
STK31	56164	broad.mit.edu	37	7	23802426	23802426	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:23802426G>A	ENST00000354639.3	+	11	1695	c.1231G>A	c.(1231-1233)Ggg>Agg	p.G411R	STK31_ENST00000355870.3_Missense_Mutation_p.G434R|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.G434R|STK31_ENST00000428484.1_Missense_Mutation_p.G411R	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	434							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCAGAGTGAAGGGAATATTTT	0.333000													37	66					0	0	0.827153	0	0
GLIS3	169792	broad.mit.edu	37	9	3898796	3898796	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:3898796C>G	ENST00000324333.10	-	6	1751	c.1558G>C	c.(1558-1560)Gat>Cat	p.D520H	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.D675H|GLIS3-AS1_ENST00000451340.2_RNA	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	520					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)		GTGAGGCAATCTGTGAGCAGG	0.587000													29	55					0	0	0.750413	0	0
TMEM87B	84910	broad.mit.edu	37	2	112838657	112838657	+	Missense_Mutation	SNP	C	C	T	rs151250123		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:112838657C>T	ENST00000283206.4	+	7	985	c.616C>T	c.(616-618)Cat>Tat	p.H206Y		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	206						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						GATTGGGCCTCATGGATATAT	0.333000													25	46					0	0	0.847076	0	0
CBLB	868	broad.mit.edu	37	3	105377939	105377939	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:105377939C>G	ENST00000264122.4	-	19	3145	c.2824G>C	c.(2824-2826)Gag>Cag	p.E942Q	CBLB_ENST00000394027.3_Missense_Mutation_p.E920Q|CBLB_ENST00000407712.1_Missense_Mutation_p.E157Q	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	942	UBA.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GCATAACCCTCTCCCATGAGT	0.512000			Mis S		AML								13	122					0	0	0.500413	0	0
EPB41L2	2037	broad.mit.edu	37	6	131190961	131190961	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:131190961C>T	ENST00000337057.3	-	15	2530	c.2349G>A	c.(2347-2349)ccG>ccA	p.P783P	EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000530481.1_Silent_p.P713P|EPB41L2_ENST00000527659.1_Silent_p.P713P|EPB41L2_ENST00000368128.2_Silent_p.P783P|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000527411.1_Silent_p.P713P|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000529208.1_Silent_p.P713P|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000524581.1_Silent_p.P161P|EPB41L2_ENST00000445890.2_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	783					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CCTTGGCTGCCGGGCGGGGTT	0.577000													47	220					0	0	0.870114	0	0
ANK1	286	broad.mit.edu	37	8	41554068	41554068	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:41554068A>T	ENST00000396942.1	-	26	2856	c.2773T>A	c.(2773-2775)Tcc>Acc	p.S925T	ANK1_ENST00000379758.2_Missense_Mutation_p.S925T|ANK1_ENST00000265709.8_Missense_Mutation_p.S966T|ANK1_ENST00000289734.7_Missense_Mutation_p.S925T|ANK1_ENST00000352337.4_Missense_Mutation_p.S925T|ANK1_ENST00000396945.1_Missense_Mutation_p.S925T|ANK1_ENST00000347528.4_Missense_Mutation_p.S925T			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	925	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCTCTCATGGAACCACCCCGG	0.637000													14	25					0	0	0.457914	0	0
DLGAP5	9787	broad.mit.edu	37	14	55618599	55618599	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr14:55618599G>C	ENST00000247191.2	-	17	2398	c.2182C>G	c.(2182-2184)Ctt>Gtt	p.L728V	DLGAP5_ENST00000395425.2_Missense_Mutation_p.L728V	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	728					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CCAGCAAGAAGAGGCAAACTC	0.328000													43	43					0	0	0.859065	0	0
TLE1	7088	broad.mit.edu	37	9	84230956	84230956	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:84230956G>C	ENST00000376499.3	-	11	1923	c.859C>G	c.(859-861)Cca>Gca	p.P287A	TLE1_ENST00000464999.1_5'UTR|TLE1_ENST00000376472.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	287	Pro/Ser-rich.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GTGGAAGCTGGACTGCTAGAA	0.502000													15	75					0	0	0.479597	0	0
CDH19	28513	broad.mit.edu	37	18	64212043	64212043	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr18:64212043C>T	ENST00000262150.2	-	6	1165	c.873G>A	c.(871-873)atG>atA	p.M291I	CDH19_ENST00000540086.1_Missense_Mutation_p.M291I	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	291	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TGCTGTAATCCATTTCTGCAT	0.353000													32	30					0	0	0.769981	0	0
CR2	1380	broad.mit.edu	37	1	207640030	207640030	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:207640030G>T	ENST00000367057.3	+	2	407	c.218G>T	c.(217-219)gGa>gTa	p.G73V	CR2_ENST00000458541.2_Missense_Mutation_p.G73V|CR2_ENST00000367058.3_Missense_Mutation_p.G73V|CR2_ENST00000367059.3_Missense_Mutation_p.G73V	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	73	Sushi 1.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AAAGTGGATGGAACCTGGGAT	0.408000													14	60					3.27435e-08	3.54259e-08	0.457914	1	0
DAAM1	23002	broad.mit.edu	37	14	59835468	59835468	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr14:59835468G>T	ENST00000395125.1	+	25	3151	c.3128G>T	c.(3127-3129)gGa>gTa	p.G1043V	DAAM1_ENST00000351081.1_Missense_Mutation_p.G1043V|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000360909.3_Missense_Mutation_p.G1033V	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1043	DAD.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTACGCTCAGGAGAAGTGTTT	0.403000													38	27					2.54651e-27	2.93769e-27	0.827153	1	0
MTMR10	54893	broad.mit.edu	37	15	31233969	31233969	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr15:31233969G>A	ENST00000435680.1	-	16	2135	c.2038C>T	c.(2038-2040)Cac>Tac	p.H680Y	FAN1_ENST00000362065.4_3'UTR|MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000314404.8_Intron	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	680							phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		GAGAGCTTGTGAAAGGCTGTG	0.602000													14	19					0	0	0.500413	0	0
HDAC10	83933	broad.mit.edu	37	22	50684743	50684743	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr22:50684743G>C	ENST00000216271.5	-	17	1986	c.1634C>G	c.(1633-1635)tCc>tGc	p.S545C	MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000448072.1_Missense_Mutation_p.S495C|HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000349505.4_Missense_Mutation_p.S525C	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	545					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGTGGCGTGGAGACATGGAA	0.582000													16	130					0	0	0.592651	0	0
MYOG	4656	broad.mit.edu	37	1	203054922	203054922	+	Silent	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:203054922C>A	ENST00000241651.4	-	1	242	c.168G>T	c.(166-168)ggG>ggT	p.G56G		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	56					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						GCTCGGGGGTCCCCAGCCCCT	0.697000													17	48					1.28384e-07	1.37734e-07	0.608945	1	0
LAMA2	3908	broad.mit.edu	37	6	129573422	129573422	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:129573422G>A	ENST00000421865.2	+	14	2127	c.2078G>A	c.(2077-2079)gGg>gAg	p.G693E		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	693	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TACAGCTTTGGGATGGATGCC	0.448000													7	62					0	0	0.278610	0	0
LRRC31	79782	broad.mit.edu	37	3	169572606	169572606	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:169572606G>T	ENST00000316428.5	-	6	1043	c.986C>A	c.(985-987)tCa>tAa	p.S329*	LRRC31_ENST00000264676.5_Nonsense_Mutation_p.S273*|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Nonsense_Mutation_p.S329*	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	329										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CTTACTCAGTGACATCACGTC	0.398000													24	98					4.15321e-07	4.43086e-07	0.740014	1	0
ALAS1	211	broad.mit.edu	37	3	52233298	52233298	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:52233298T>G	ENST00000394965.2	+	3	401	c.41T>G	c.(40-42)gTc>gGc	p.V14G	ALAS1_ENST00000469224.1_Missense_Mutation_p.V14G|ALAS1_ENST00000484952.1_Missense_Mutation_p.V14G|ALAS1_ENST00000310271.2_Missense_Mutation_p.V14G	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	14					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTATCCCGAGTCCCCCAGGCC	0.527000													14	73					0	0	0.575678	0	0
TXNDC16	57544	broad.mit.edu	37	14	52922155	52922155	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr14:52922155G>A	ENST00000281741.4	-	18	2100	c.1729C>T	c.(1729-1731)Cca>Tca	p.P577S	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	577					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AGCAGGGCTGGAAGACTTGCA	0.418000													57	54					0	0	0.870114	0	0
SEMA6D	80031	broad.mit.edu	37	15	48052505	48052505	+	Silent	SNP	A	A	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr15:48052505A>T	ENST00000316364.5	+	3	553	c.114A>T	c.(112-114)tcA>tcT	p.S38S	SEMA6D_ENST00000536845.2_Silent_p.S38S|SEMA6D_ENST00000537942.1_Silent_p.S38S|SEMA6D_ENST00000389428.3_Silent_p.S38S|SEMA6D_ENST00000389433.2_Silent_p.S38S|SEMA6D_ENST00000389432.2_Silent_p.S38S|SEMA6D_ENST00000558014.1_Silent_p.S38S|SEMA6D_ENST00000354744.4_Silent_p.S38S|SEMA6D_ENST00000358066.4_Silent_p.S38S|SEMA6D_ENST00000355997.3_Silent_p.S38S|SEMA6D_ENST00000558816.1_Silent_p.S38S|SEMA6D_ENST00000389425.3_Silent_p.S38S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	38	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTGCAGATTCAAGGCAATATC	0.413000													11	54					0	0	0.387290	0	0
NCOR1	9611	broad.mit.edu	37	17	16040727	16040727	+	Splice_Site	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:16040727C>G	ENST00000268712.3	-	14	1665		c.e14-1		NCOR1_ENST00000395848.1_Splice_Site|NCOR1_ENST00000395851.1_Splice_Site	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1						cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAGGAACACTCTGTAAGAAAT	0.299000													4	18					0	0	0.150653	0	0
GCN1L1	10985	broad.mit.edu	37	12	120576588	120576588	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:120576588C>T	ENST00000300648.6	-	46	6079	c.6067G>A	c.(6067-6069)Gag>Aag	p.E2023K		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2023					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTGCCGCCTCTCTGACCTCC	0.547000													63	151					0	0	0.870114	0	0
FAIM	55179	broad.mit.edu	37	3	138341033	138341033	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:138341033G>C	ENST00000338446.4	+	4	900	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	FAIM_ENST00000393034.2_Missense_Mutation_p.E39Q|FAIM_ENST00000464668.1_Missense_Mutation_p.E39Q|FAIM_ENST00000393035.2_Missense_Mutation_p.E39Q|FAIM_ENST00000360570.3_Missense_Mutation_p.E61Q	NM_001033030.1	NP_001028202.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	39					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						TATGTAGGAAGAGATAAGAAA	0.318000													3	42					0	0	0.150653	0	0
MUC16	94025	broad.mit.edu	37	19	9088659	9088659	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:9088659C>T	ENST00000397910.4	-	1	3359	c.3156G>A	c.(3154-3156)ttG>ttA	p.L1052L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1052	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGCTTGTGTCCAATCTTCCTT	0.478000													19	65					0	0	0.575678	0	0
TSPAN15	23555	broad.mit.edu	37	10	71265936	71265936	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:71265936C>G	ENST00000373290.2	+	7	797	c.675C>G	c.(673-675)atC>atG	p.I225M	TSPAN15_ENST00000459981.1_3'UTR	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	225						integral to plasma membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						CCGTGATCATCTGGTTCATGG	0.597000													102	76					0	0	0.870114	0	0
ALPI	248	broad.mit.edu	37	2	233321881	233321881	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:233321881C>G	ENST00000295463.3	+	5	574	c.497C>G	c.(496-498)aCc>aGc	p.T166S		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	166					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGAGTGGTGACCACCACACGG	0.637000													3	68					0	0	0.115264	0	0
ANK2	287	broad.mit.edu	37	4	114275400	114275400	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:114275400G>A	ENST00000357077.4	+	38	5679	c.5626G>A	c.(5626-5628)Gag>Aag	p.E1876K	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E1843K|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1843	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGTAAAACTGAGAAACACTC	0.458000													43	128					0	0	0.870114	0	0
ACSS3	79611	broad.mit.edu	37	12	81503360	81503360	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:81503360C>T	ENST00000548058.1	+	2	1243	c.333C>T	c.(331-333)aaC>aaT	p.N111N	RP11-543H12.1_ENST00000547123.1_RNA|ACSS3_ENST00000261206.3_Silent_p.N110N			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	111						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GAATGCTTAACATTTGTTACA	0.313000													7	61					0	0	0.335167	0	0
SETD6	79918	broad.mit.edu	37	16	58552747	58552747	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:58552747G>C	ENST00000394266.4	+	9	1085	c.1029G>C	c.(1027-1029)tgG>tgC	p.W343C	SETD6_ENST00000310682.2_Missense_Mutation_p.W388C|SETD6_ENST00000219315.4_Missense_Mutation_p.W412C			Q8TBK2	SETD6_HUMAN	SET domain containing 6	412					negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						AAGCATCGTGGAGACAGCTGC	0.453000													19	64					0	0	0.639603	0	0
PIGV	55650	broad.mit.edu	37	1	27124128	27124128	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:27124128G>A	ENST00000374145.1	+	4	1957	c.1275G>A	c.(1273-1275)gaG>gaA	p.E425E	PIGV_ENST00000078527.4_Silent_p.E425E|PIGV_ENST00000449950.2_Silent_p.E197E	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	425					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		AGGATCAAGAGCCGCTGTTGA	0.488000													23	60					0	0	0.639603	0	0
PKNOX1	5316	broad.mit.edu	37	21	44427655	44427655	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr21:44427655G>C	ENST00000291547.5	+	3	317	c.106G>C	c.(106-108)Gat>Cat	p.D36H	PKNOX1_ENST00000432907.2_5'UTR	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	36							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						CTCTGAACCCGATGCAGAAGG	0.493000													35	190					0	0	0.819951	0	0
OPTC	26254	broad.mit.edu	37	1	203465269	203465269	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:203465269C>T	ENST00000367222.2	+	2	252	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	46						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			AGTTCTGCCTCTGCGGAATGA	0.542000													16	51					0	0	0.557998	0	0
LINGO2	158038	broad.mit.edu	37	9	27950351	27950351	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:27950351G>A	ENST00000379992.2	-	6	768	c.319C>T	c.(319-321)Ctg>Ttg	p.L107L	LINGO2_ENST00000308675.3_Silent_p.L107L	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	107						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AGGGAACGCAGGTTAAAGAGA	0.448000													78	121					0	0	0.870114	0	0
ARAP1	116985	broad.mit.edu	37	11	72418281	72418281	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:72418281C>T	ENST00000359373.5	-	12	2513	c.1662G>A	c.(1660-1662)ggG>ggA	p.G554G	ARAP1_ENST00000426523.1_Silent_p.G309G|ARAP1_ENST00000334211.8_Silent_p.G309G|ARAP1_ENST00000429686.1_Silent_p.G309G|ARAP1_ENST00000393605.3_Silent_p.G314G|ARAP1_ENST00000455638.2_Silent_p.G554G|ARAP1_ENST00000393609.3_Silent_p.G554G			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	554	Arf-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GCTGAGGAGCCCCGCAGTCAG	0.647000													7	10					0	0	0.278610	0	0
RAB3A	5864	broad.mit.edu	37	19	18311177	18311177	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:18311177C>A	ENST00000222256.4	-	3	485	c.307G>T	c.(307-309)Gac>Tac	p.D103Y	RAB3A_ENST00000464076.3_Missense_Mutation_p.D8Y	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	103					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						TTGGTGATGTCATACATGAGG	0.493000													18	96					3.5997e-14	4.03124e-14	0.624587	1	0
PTPRT	11122	broad.mit.edu	37	20	40748574	40748574	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr20:40748574C>T	ENST00000373198.4	-	21	3177		c.e21+1		PTPRT_ENST00000373201.1_Splice_Site|PTPRT_ENST00000373187.1_Splice_Site|PTPRT_ENST00000373190.1_Splice_Site|PTPRT_ENST00000373193.3_Splice_Site|PTPRT_ENST00000373184.1_Splice_Site|PTPRT_ENST00000356100.2_Splice_Site	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T						homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGGCACTTACCTTGAGTCGC	0.512000													49	104					0	0	0.870114	0	0
EFR3A	23167	broad.mit.edu	37	8	132991207	132991207	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:132991207G>T	ENST00000254624.5	+	13	1665	c.1440G>T	c.(1438-1440)ttG>ttT	p.L480F	EFR3A_ENST00000334503.4_Missense_Mutation_p.L480F|EFR3A_ENST00000519656.1_Missense_Mutation_p.L444F	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	480						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AGTTGGTCTTGGAAGTAATGC	0.418000													21	184					3.65163e-15	4.11345e-15	0.706142	1	0
SMPD4	55627	broad.mit.edu	37	2	130911366	130911366	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:130911366G>C	ENST00000409031.1	-	17	3067	c.1919C>G	c.(1918-1920)gCc>gGc	p.A640G	SMPD4_ENST00000339679.7_Missense_Mutation_p.A498G|SMPD4_ENST00000351288.6_Missense_Mutation_p.A611G|SMPD4_ENST00000443958.2_Missense_Mutation_p.A304G|SMPD4_ENST00000453750.1_Missense_Mutation_p.A389G|SMPD4_ENST00000426662.2_Missense_Mutation_p.A276G|SMPD4_ENST00000431183.2_Missense_Mutation_p.A538G|SMPD4_ENST00000452225.2_Missense_Mutation_p.A381G	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	601					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CAGGTCGTTGGCTGTGTAGGA	0.592000													196	129					0	0	0.870114	0	0
MIER2	54531	broad.mit.edu	37	19	325674	325674	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:325674C>T	ENST00000264819.4	-	7	626	c.616G>A	c.(616-618)Gac>Aac	p.D206N		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	206	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		TTGCTGAGGTCAGCTTGGAAC	0.607000													15	73					0	0	0.608945	0	0
ETS1	2113	broad.mit.edu	37	11	128354930	128354930	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:128354930G>A	ENST00000392668.4	-	7	734	c.650C>T	c.(649-651)tCg>tTg	p.S217L	ETS1_ENST00000531611.1_Missense_Mutation_p.S173L|ETS1_ENST00000526145.2_Missense_Mutation_p.S173L|ETS1_ENST00000319397.6_Missense_Mutation_p.S173L|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000345075.4_Missense_Mutation_p.S173L	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1						cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TGAGAACTCCGATGGTGGAAC	0.483000													29	179					0	0	0.812448	0	0
COL21A1	81578	broad.mit.edu	37	6	56006588	56006588	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:56006588C>G	ENST00000244728.5	-	12	1934	c.1537G>C	c.(1537-1539)Gac>Cac	p.D513H	COL21A1_ENST00000535941.1_Missense_Mutation_p.D513H|COL21A1_ENST00000370819.1_Missense_Mutation_p.D510H	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	513					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTTACCTTGTCACCATCTCGC	0.388000													19	59					0	0	0.654019	0	0
ZNF12	7559	broad.mit.edu	37	7	6730643	6730643	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:6730643G>A	ENST00000405858.1	-	5	2471	c.1930C>T	c.(1930-1932)Cgg>Tgg	p.R644W	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.R606W|ZNF12_ENST00000404360.1_Missense_Mutation_p.R570W	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	644					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TATGACATCCGAGAGAAGGCT	0.393000													46	95					0	0	0.870114	0	0
MTCH2	23788	broad.mit.edu	37	11	47644272	47644272	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:47644272C>T	ENST00000302503.3	-	12	963	c.806G>A	c.(805-807)tGg>tAg	p.W269*	MTCH2_ENST00000542981.1_Nonsense_Mutation_p.W121*|MTCH2_ENST00000534074.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	269					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TAGCATGCACCAACAGTCTAT	0.318000													10	62					0	0	0.435327	0	0
PAIP2	51247	broad.mit.edu	37	5	138700267	138700267	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:138700267A>T	ENST00000394795.2	+	3	1144	c.153A>T	c.(151-153)ttA>ttT	p.L51F	PAIP2_ENST00000265192.4_Missense_Mutation_p.L51F|PAIP2_ENST00000511381.1_3'UTR|PAIP2_ENST00000510080.1_Missense_Mutation_p.L51F|PAIP2_ENST00000511706.1_Intron			Q9BPZ3	PAIP2_HUMAN	poly(A) binding protein interacting protein 2	51	Glu-rich.|PABPC1-interacting motif-1 (PAM1).				negative regulation of translational initiation	cytoplasm	protein binding|translation repressor activity			kidney(1)|large_intestine(2)|lung(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGAGGAGTTATGGGAAGAAG	0.348000													7	49					0	0	0.361761	0	0
DNAH17	8632	broad.mit.edu	37	17	76533459	76533459	+	Silent	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:76533459C>A	ENST00000389840.5	-	19	2905	c.2781G>T	c.(2779-2781)ctG>ctT	p.L927L	DNAH17_ENST00000585328.1_Silent_p.L924L					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGCCCTCGATCAGTGCCAGGA	0.602000													18	29					9.7654e-05	0.000101085	0.557998	1	0
ZNF572	137209	broad.mit.edu	37	8	125989705	125989705	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:125989705C>G	ENST00000319286.5	+	3	1349	c.1195C>G	c.(1195-1197)Ctc>Gtc	p.L399V		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TAGCTCCCATCTCATTAGACA	0.428000										HNSCC(60;0.17)			15	107					0	0	0.575678	0	0
LCT	3938	broad.mit.edu	37	2	136566130	136566130	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:136566130C>T	ENST00000264162.2	-	8	3797	c.3787G>A	c.(3787-3789)Gag>Aag	p.E1263K		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1263	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCACCATACTCTTCCTTGATC	0.537000													85	76					0	0	0.870114	0	0
ZNF740	283337	broad.mit.edu	37	12	53579200	53579200	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:53579200G>A	ENST00000416904.3	+	4	634	c.189G>A	c.(187-189)cgG>cgA	p.R63R		NM_001004304.3	NP_001004304.1	Q8NDX6	ZN740_HUMAN	zinc finger protein 740	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)	3						ATAAGTCCCGGAGCCGCAAAG	0.453000													10	22					0	0	0.411799	0	0
ZNF382	84911	broad.mit.edu	37	19	37117266	37117266	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:37117266C>A	ENST00000435416.1	+	3	1959	c.464C>A	c.(463-465)cCc>cAc	p.P155H	ZNF382_ENST00000292928.2_Missense_Mutation_p.P156H|ZNF382_ENST00000439428.1_Missense_Mutation_p.P155H|ZNF382_ENST00000423582.1_Missense_Mutation_p.P107H			Q96SR6	ZN382_HUMAN	zinc finger protein 382	156	Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AATATAAGCCCCATAAAAGAG	0.343000													15	140					3.62473e-10	4.01235e-10	0.608945	1	0
AIM1	202	broad.mit.edu	37	6	106975304	106975304	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:106975304G>C	ENST00000369066.3	+	5	3800	c.3313G>C	c.(3313-3315)Gat>Cat	p.D1105H		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1105	Beta/gamma crystallin 'Greek key' 2.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGCAGAGTCTGATAAGCCAGT	0.403000													52	258					0	0	0.870114	0	0
NOTUM	147111	broad.mit.edu	37	17	79911122	79911122	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:79911122C>T	ENST00000409678.3	-	11	1589	c.1206G>A	c.(1204-1206)gtG>gtA	p.V402V		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	402						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACGTCCCCTTCACCTGGACAT	0.617000													4	17					0	0	0.150653	0	0
FAM13A	10144	broad.mit.edu	37	4	89660243	89660243	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:89660243G>A	ENST00000264344.5	-	20	2707	c.2500C>T	c.(2500-2502)Cta>Tta	p.L834L	FAM13A_ENST00000511976.1_Silent_p.L420L|FAM13A_ENST00000395002.2_Silent_p.L508L|FAM13A_ENST00000503556.1_Silent_p.L494L|FAM13A_ENST00000513837.1_Silent_p.L480L|FAM13A_ENST00000508369.1_Silent_p.L508L	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	834					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CTGTCGTATAGTGGCTTCATC	0.498000													23	62					0	0	0.760397	0	0
NAV3	89795	broad.mit.edu	37	12	78513485	78513485	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:78513485C>G	ENST00000397909.2	+	15	3682	c.3509C>G	c.(3508-3510)tCt>tGt	p.S1170C	NAV3_ENST00000266692.7_Missense_Mutation_p.S1170C|NAV3_ENST00000536525.2_Missense_Mutation_p.S1170C|NAV3_ENST00000228327.6_Missense_Mutation_p.S1170C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1170	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGCAGCAAGTCTGCTGGGGCC	0.537000										HNSCC(70;0.22)			8	41					0	0	0.307466	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79854455	79854455	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:79854455C>A	ENST00000338682.3	-	5	2056	c.1384G>T	c.(1384-1386)Gat>Tat	p.D462Y		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	462						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		ACATTGATATCTGAGATGGGA	0.413000													31	160					6.97489e-18	7.88018e-18	0.804634	1	0
DMRT2	10655	broad.mit.edu	37	9	1057268	1057268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:1057268C>T	ENST00000382251.3	+	5	2010	c.1681C>T	c.(1681-1683)Cag>Tag	p.Q561*	DMRT2_ENST00000302441.6_Nonsense_Mutation_p.Q561*|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000358146.2_Nonsense_Mutation_p.Q561*|DMRT2_ENST00000382255.3_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	561					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TCGTGTCTCTCAGTGAAAGGC	0.383000													18	112					0	0	0.608945	0	0
IGLV7-43	28776	broad.mit.edu	37	22	22749733	22749733	+	RNA	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr22:22749733C>G	ENST00000390298.2	+	0	291																											TTCTCAGGCTCCCTCCTTGGG	0.552000													14	48					0	0	0.479597	0	0
MAP1B	4131	broad.mit.edu	37	5	71490041	71490041	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:71490041G>A	ENST00000296755.7	+	5	1157	c.859G>A	c.(859-861)Gga>Aga	p.G287R		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	287						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CATCAATGGCGGATCAGAGAG	0.483000													17	95					0	0	0.520397	0	0
ZNF644	84146	broad.mit.edu	37	1	91403168	91403168	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:91403168T>C	ENST00000370440.1	-	4	3779	c.3562A>G	c.(3562-3564)Att>Gtt	p.I1188V	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.I1188V|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	1188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TGAGGAGAAATAGCAGAATTC	0.378000													3	64					0	0	0.115264	0	0
TMEM201	199953	broad.mit.edu	37	1	9662348	9662348	+	Nonstop_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:9662348G>C	ENST00000340305.5	+	6	1187	c.1178G>C	c.(1177-1179)tGa>tCa	p.*393S	TMEM201_ENST00000377376.4_Intron|TMEM201_ENST00000340381.6_Intron	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	0						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		AAGCAGCCATGACTGCGGGGG	0.652000													4	15					0	0	0.150653	0	0
SVIL	6840	broad.mit.edu	37	10	29840154	29840154	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:29840154G>T	ENST00000375398.2	-	8	648	c.199C>A	c.(199-201)Cta>Ata	p.L67I	SVIL_ENST00000355867.4_Missense_Mutation_p.L67I|SVIL_ENST00000375400.3_Missense_Mutation_p.L67I			O95425	SVIL_HUMAN	supervillin	67	Interaction with MYLK (By similarity).				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGCTTTTCTAGAGAAGAATCA	0.463000													12	47					4.7546e-09	5.2328e-09	0.500413	1	0
NRIP3	56675	broad.mit.edu	37	11	9009807	9009807	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:9009807C>A	ENST00000309166.3	-	2	310	c.197G>T	c.(196-198)aGg>aTg	p.R66M	NRIP3_ENST00000531090.1_Missense_Mutation_p.R66M	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	66					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		CATGAGGCGCCTCTGCAGAAT	0.512000													17	57					2.94398e-08	3.19418e-08	0.557998	1	0
XRCC1	7515	broad.mit.edu	37	19	44050097	44050097	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:44050097C>T	ENST00000262887.5	-	14	2041	c.1494G>A	c.(1492-1494)caG>caA	p.Q498Q	XRCC1_ENST00000543982.1_Silent_p.Q467Q			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	498					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TGTGTTCCTTCTGCTCTGCCA	0.632000								Other BER factors					5	34					0	0	0.217242	0	0
LRRC41	10489	broad.mit.edu	37	1	46746098	46746098	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:46746098C>T	ENST00000343304.6	-	6	2176	c.1891G>A	c.(1891-1893)Gat>Aat	p.D631N	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	631										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGCCCAAAATCCTGGGGAGAG	0.572000													19	103					0	0	0.608945	0	0
TMEM87B	84910	broad.mit.edu	37	2	112838676	112838676	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:112838676C>G	ENST00000283206.4	+	7	1004	c.635C>G	c.(634-636)tCa>tGa	p.S212*		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	212						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						ATCTCTGCATCAGATTGGCCC	0.328000													27	44					0	0	0.859065	0	0
DGKI	9162	broad.mit.edu	37	7	137150661	137150661	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:137150661C>T	ENST00000453654.2	-	27	2298	c.1759G>A	c.(1759-1761)Gcc>Acc	p.A587T	DGKI_ENST00000424189.2_Missense_Mutation_p.A890T|DGKI_ENST00000288490.5_Missense_Mutation_p.A877T|DGKI_ENST00000446122.1_Missense_Mutation_p.A859T			O75912	DGKI_HUMAN	diacylglycerol kinase, iota						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CACCCCGAGGCTTGTTCCACC	0.542000													10	59					0	0	0.411799	0	0
GRAMD4	23151	broad.mit.edu	37	22	47073091	47073091	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr22:47073091C>T	ENST00000406902.1	+	19	1893	c.1680C>T	c.(1678-1680)acC>acT	p.T560T	GRAMD4_ENST00000408031.1_Silent_p.T83T|GRAMD4_ENST00000361034.3_Silent_p.T560T			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	560					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CCTTCGAGACCATTCTCAGCC	0.562000													17	95					0	0	0.624587	0	0
RB1	5925	broad.mit.edu	37	13	49027219	49027219	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr13:49027219C>G	ENST00000267163.4	+	18	1924	c.1786C>G	c.(1786-1788)Ctc>Gtc	p.L596V		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	596	Pocket; binds T and E1A.|Spacer.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAATCTTCCTCTCCAGAATAA	0.338000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			27	50					0	0	0.750413	0	0
DNAH11	8701	broad.mit.edu	37	7	21723453	21723453	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:21723453G>T	ENST00000328843.6	+	33	5564	c.5533G>T	c.(5533-5535)Gag>Tag	p.E1845*	DNAH11_ENST00000409508.3_Nonsense_Mutation_p.E1838*			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1845	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCACCGATGGGAGGATACCCA	0.458000									Kartagener syndrome				50	279					3.28156e-27	3.77428e-27	0.870114	1	0
ABCD3	5825	broad.mit.edu	37	1	94933515	94933515	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:94933515G>C	ENST00000370214.4	+	4	311	c.287G>C	c.(286-288)cGa>cCa	p.R96P	ABCD3_ENST00000315713.5_Missense_Mutation_p.R96P|ABCD3_ENST00000536817.1_Missense_Mutation_p.R23P|ABCD3_ENST00000454898.2_Missense_Mutation_p.R120P|ABCD3_ENST00000394233.2_Missense_Mutation_p.R96P	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	96	ABC transmembrane type-1.|Interaction with PEX19.|Targeting to peroxisomes.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		CTGGTGTCTCGAACATATTGT	0.313000													7	55					0	0	0.361761	0	0
SEMA4C	54910	broad.mit.edu	37	2	97531659	97531659	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:97531659C>A	ENST00000305476.5	-	4	398	c.266G>T	c.(265-267)tGg>tTg	p.W89L		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	89	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GGGGGCCTCCCAGGAGATCTG	0.597000													11	113					7.93312e-07	8.41658e-07	0.457914	1	0
ANO10	55129	broad.mit.edu	37	3	43640099	43640099	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:43640099C>G	ENST00000292246.3	-	4	567	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q	ANO10_ENST00000396091.3_Missense_Mutation_p.E67Q|ANO10_ENST00000451430.2_Intron|ANO10_ENST00000350459.4_Missense_Mutation_p.E133Q|ANO10_ENST00000414522.2_Missense_Mutation_p.E133Q	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	133					cell death	chloride channel complex	chloride channel activity	p.E133Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CTAAGATTTTCAAGTTCATGT	0.313000													3	42					0	0	0.115264	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984612	140984612	+	Silent	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chrX:140984612C>G	ENST00000544766.1	+	5	701	c.174C>G	c.(172-174)tcC>tcG	p.S58S	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Silent_p.S58S|MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000409007.1_Silent_p.S58S	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	587										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					cttccttgtcctcatcctcAC	0.522000													4	6					0	0	0.150653	0	0
CACNA1C	775	broad.mit.edu	37	12	2676892	2676892	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:2676892G>C	ENST00000399655.1	+	13	2092	c.1827G>C	c.(1825-1827)aaG>aaC	p.K609N	CACNA1C_ENST00000399621.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.K609N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.K609N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000347598.4_Missense_Mutation_p.K609N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.K609N|CACNA1C_ENST00000399597.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.K609N|CACNA1C_ENST00000480911.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000399649.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.K634N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.K609N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.K609N	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	609					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGGAGACCAAGATCATGTCCC	0.587000													4	39					0	0	0.150653	0	0
MFSD3	113655	broad.mit.edu	37	8	145736008	145736008	+	Silent	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:145736008G>T	ENST00000301327.4	+	3	1118	c.858G>T	c.(856-858)gtG>gtT	p.V286V		NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	286	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGAGGTCGGTGCTGCGCTTCC	0.617000													36	190					2.68985e-26	3.08447e-26	0.870114	1	0
HHATL	57467	broad.mit.edu	37	3	42738577	42738577	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:42738577A>G	ENST00000441594.1	-	8	1187	c.926T>C	c.(925-927)gTt>gCt	p.V309A	HHATL_ENST00000310417.5_Missense_Mutation_p.V309A	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	309					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		AGTGTTGACAACACCAAAGAG	0.612000													3	71					0	0	0.115264	0	0
TTN	7273	broad.mit.edu	37	2	179587610	179587610	+	Missense_Mutation	SNP	G	G	A	rs72648966		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:179587610G>A	ENST00000589042.1	-	76	22240	c.22016C>T	c.(22015-22017)tCg>tTg	p.S7339L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S7022L|TTN_ENST00000342992.6_Missense_Mutation_p.S6095L|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7022	Ig-like 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAAGAAACCGAATCTCCAAC	0.438000													5	24					0	0	0.248553	0	0
SORCS3	22986	broad.mit.edu	37	10	106737176	106737176	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:106737176C>T	ENST00000369701.3	+	4	1106	c.879C>T	c.(877-879)ctC>ctT	p.L293L		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	293						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)		AGTATCGGCTCACCTTCTATA	0.443000													17	42					0	0	0.557998	0	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363584	21363584	+	RNA	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr22:21363584G>A	ENST00000452284.1	+	0	1251				THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA	NR_027051.1																						TCATGGCCATGGAGACCTGGG	0.567000													25	84					0	0	0.760397	0	0
OR2W3	343171	broad.mit.edu	37	1	248059565	248059565	+	Nonsense_Mutation	SNP	T	T	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:248059565T>G	ENST00000537741.1	+	3	934	c.677T>G	c.(676-678)tTa>tGa	p.L226*	OR2W3_ENST00000360358.3_Nonsense_Mutation_p.L226*			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGGCTGTGTTACAAATTCGG	0.532000													35	108					0	0	0.859065	0	0
EXOSC9	5393	broad.mit.edu	37	4	122735121	122735121	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:122735121G>A	ENST00000512454.1	+	9	1243	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Missense_Mutation_p.E359K|EXOSC9_ENST00000243498.5_Missense_Mutation_p.E359K			Q06265	EXOS9_HUMAN	exosome component 9	359					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	p.E359K(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GGAAGATGATGAAGGCGGTGG	0.453000													32	87					0	0	0.788014	0	0
ITFG3	83986	broad.mit.edu	37	16	304632	304632	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:304632G>A	ENST00000399932.3	+	3	671	c.220G>A	c.(220-222)Gac>Aac	p.D74N	ITFG3_ENST00000301678.3_Missense_Mutation_p.D74N|ITFG3_ENST00000442458.2_Missense_Mutation_p.D74N|ITFG3_ENST00000600536.1_Missense_Mutation_p.D74N|ITFG3_ENST00000450082.2_Missense_Mutation_p.D74N|ITFG3_ENST00000301679.2_Missense_Mutation_p.D74N	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	74						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CCCGTGTCCAGACCGGCCGGC	0.607000													59	287					0	0	0.870114	0	0
WDR16	146845	broad.mit.edu	37	17	9489122	9489122	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:9489122G>A	ENST00000352665.5	+	2	172	c.103G>A	c.(103-105)Gac>Aac	p.D35N	WDR16_ENST00000576499.1_Missense_Mutation_p.D35N|WDR16_ENST00000396219.3_Intron|WDR16_ENST00000299764.5_Missense_Mutation_p.D45N	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	35						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ATGCCATCCTGACCAGGAGCA	0.433000													31	140					0	0	0.769981	0	0
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs150688663	by1000genomes	TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:53856702G>A	ENST00000458035.1	+	4	2891	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363000													3	60					0	0	0.115264	0	0
RILPL1	353116	broad.mit.edu	37	12	123970241	123970241	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:123970241C>T	ENST00000376874.4	-	5	1148	c.913G>A	c.(913-915)Gag>Aag	p.E305K	RILPL1_ENST00000340724.6_Missense_Mutation_p.E153K	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	305	RILP-like.				neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		TCGTTCCTCTCGTGCAGCACG	0.622000													6	47					0	0	0.307466	0	0
SERINC3	10955	broad.mit.edu	37	20	43129871	43129871	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr20:43129871C>T	ENST00000342374.4	-	9	1283	c.1126G>A	c.(1126-1128)Gat>Aat	p.D376N	SERINC3_ENST00000541235.1_Missense_Mutation_p.D321N|SERINC3_ENST00000255175.1_Missense_Mutation_p.D376N	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	376						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GTAGTTGTATCACCAAGGATG	0.507000													25	158					0	0	0.788014	0	0
GNPAT	8443	broad.mit.edu	37	1	231386813	231386813	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:231386813G>T	ENST00000366647.4	+	2	354	c.185G>T	c.(184-186)gGa>gTa	p.G62V	GNPAT_ENST00000366646.3_Intron	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	62					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GTCTATAAGGGAATTACTCCA	0.353000													9	83					0.0477658	0.0481429	0.307466	1	0
CYB5D2	124936	broad.mit.edu	37	17	4060176	4060176	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:4060176G>A	ENST00000301391.3	+	4	1095	c.595G>A	c.(595-597)Gac>Aac	p.D199N	CYB5D2_ENST00000573984.1_Intron|CYB5D2_ENST00000575251.1_Missense_Mutation_p.D87N|CYB5D2_ENST00000575411.2_3'UTR	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	199					nervous system development	extracellular region	heme binding			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						TGTGAGCAGAGACTGGATTGG	0.572000											OREG0024097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	42					0	0	0.500413	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222772	140222772	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:140222772C>T	ENST00000531613.1	+	1	1866	c.1866C>T	c.(1864-1866)ttC>ttT	p.F622F	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.F622F|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCCCGTTCCGCGTGGGGC	0.647000													49	109					0	0	0.870114	0	0
GPSM3	63940	broad.mit.edu	37	6	32159216	32159216	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:32159216T>C	ENST00000375040.3	-	4	802	c.410A>G	c.(409-411)gAg>gGg	p.E137G	GPSM3_ENST00000375043.3_Missense_Mutation_p.E137G|GPSM3_ENST00000487761.1_Missense_Mutation_p.E134G	NM_001276501.1	NP_001263430.1	Q9Y4H4	GPSM3_HUMAN	G-protein signaling modulator 3	137	GoLoco 3.				signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						CAGCAGCAACTCCAGGAGCTC	0.642000													31	51					0	0	0.750413	0	0
DNASE1L1	1774	broad.mit.edu	37	X	153631496	153631496	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chrX:153631496G>A	ENST00000369809.1	-	9	1190	c.561C>T	c.(559-561)tgC>tgT	p.C187C	DNASE1L1_ENST00000393638.1_Silent_p.C187C	NM_001009932.1	NP_001009932.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	187					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCAGTGAAGCGCAGTCAGCAT	0.602000													5	84					0	0	0.217242	0	0
ENTHD1	150350	broad.mit.edu	37	22	40140202	40140202	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr22:40140202G>C	ENST00000325157.6	-	7	1556	c.1306C>G	c.(1306-1308)Ctc>Gtc	p.L436V		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	436										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GGTGATAAGAGATGAGCTGAC	0.438000													9	33					0	0	0.335167	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:53856730G>A	ENST00000458035.1	+	4	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000595091.1_Silent_p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													3	58					0	0	0.115264	0	0
GRID1	2894	broad.mit.edu	37	10	87484416	87484416	+	Silent	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:87484416G>T	ENST00000327946.7	-	11	1636	c.1551C>A	c.(1549-1551)atC>atA	p.I517I	GRID1_ENST00000536331.1_Silent_p.I88I	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	517						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			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)	TGATGGCAGAGATGGCCAAGT	0.537000										Multiple Myeloma(13;0.14)			7	38					0.0381472	0.0385498	0.278610	1	0
DIDO1	11083	broad.mit.edu	37	20	61511301	61511301	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr20:61511301C>G	ENST00000266070.4	-	16	6332	c.6007G>C	c.(6007-6009)Gag>Cag	p.E2003Q	DIDO1_ENST00000395343.1_Missense_Mutation_p.E2003Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2003	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGGGTCTGCTCATTTTTTTCA	0.622000													16	123					0	0	0.592651	0	0
ADCY4	196883	broad.mit.edu	37	14	24801042	24801042	+	Silent	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr14:24801042G>T	ENST00000310677.4	-	5	734	c.621C>A	c.(619-621)ctC>ctA	p.L207L	ADCY4_ENST00000554068.2_Silent_p.L207L|ADCY4_ENST00000418030.2_Silent_p.L207L|ADCY4_ENST00000396747.3_5'UTR	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	207					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCAGGGAGCTGAGTGCCTCCC	0.657000													4	30					5.9392e-07	6.31865e-07	0.217242	1	0
CLN6	54982	broad.mit.edu	37	15	68510982	68510982	+	Silent	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr15:68510982G>T	ENST00000249806.5	-	2	247	c.90C>A	c.(88-90)ggC>ggA	p.G30G	CLN6_ENST00000538696.1_Silent_p.G62G|CLN6_ENST00000418702.2_5'UTR|CLN6_ENST00000564752.1_Silent_p.G30G|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000569336.1_5'UTR|CLN6_ENST00000566347.1_Silent_p.G30G|CLN6_ENST00000565471.1_Intron	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	30					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CGCTCACAGAGCCATGCCTGG	0.567000													6	52					0.0293803	0.029769	0.248553	1	0
NFKBIA	4792	broad.mit.edu	37	14	35873730	35873730	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr14:35873730C>T	ENST00000216797.5	-	1	222	c.121G>A	c.(121-123)Gag>Aag	p.E41K	NFKBIA_ENST00000557140.1_Missense_Mutation_p.E41K|NFKBIA_ENST00000557100.1_5'UTR	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	41					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		TGCTCGTACTCCTCGTCTTTC	0.687000													6	16					0	0	0.217242	0	0
MYO1C	4641	broad.mit.edu	37	17	1386204	1386204	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:1386204C>T	ENST00000359786.5	-	4	821	c.497G>A	c.(496-498)cGc>cAc	p.R166H	MYO1C_ENST00000575158.1_Missense_Mutation_p.R131H|MYO1C_ENST00000545534.2_Missense_Mutation_p.R142H|MYO1C_ENST00000438665.2_Missense_Mutation_p.R147H|MYO1C_ENST00000361007.2_Missense_Mutation_p.R131H	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	166	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCACCTCCGCGCTCGGGGGC	0.687000													14	29					0	0	0.479597	0	0
ZNF572	137209	broad.mit.edu	37	8	125988884	125988884	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:125988884C>T	ENST00000319286.5	+	3	528	c.374C>T	c.(373-375)tCa>tTa	p.S125L		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAGCAGAATTCATCCTTTGTA	0.428000										HNSCC(60;0.17)			14	120					0	0	0.457914	0	0
VGF	7425	broad.mit.edu	37	7	100806828	100806828	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:100806828C>T	ENST00000249330.2	-	2	1536	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K	VGF_ENST00000445482.2_Missense_Mutation_p.E433K	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	433	Asp/Glu-rich (acidic).				response to cAMP	extracellular space|transport vesicle	growth factor activity			cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					tctgtcccctcggcctccttc	0.687000													9	9					0	0	0.307466	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38673330	38673330	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:38673330G>C	ENST00000222345.6	+	16	4889	c.4380G>C	c.(4378-4380)aaG>aaC	p.K1460N		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1460					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAGGGTGGAAGAGAACGGAGG	0.642000													17	61					0	0	0.592651	0	0
EVA1A	84141	broad.mit.edu	37	2	75720637	75720637	+	Missense_Mutation	SNP	C	C	G	rs150035696	byFrequency	TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:75720637C>G	ENST00000233712.1	-	4	621	c.184G>C	c.(184-186)Gac>Cac	p.D62H	EVA1A_ENST00000410010.1_Missense_Mutation_p.D50H|EVA1A_ENST00000410071.1_Missense_Mutation_p.D62H|EVA1A_ENST00000393913.3_Missense_Mutation_p.D62H|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410113.1_Missense_Mutation_p.D62H	NM_032181.2	NP_115557.1			eva-1 homolog A (C. elegans)																		CGCCTGCAGTCTGTGTGGCAA	0.587000													12	54					0	0	0.387290	0	0
EPHB3	2049	broad.mit.edu	37	3	184298213	184298213	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:184298213C>T	ENST00000330394.2	+	12	2648	c.2196C>T	c.(2194-2196)gtC>gtT	p.V732V	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	732	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			AGTTCACGGTCATCCAGCTGG	0.612000													23	176					0	0	0.706142	0	0
TPTE	7179	broad.mit.edu	37	21	10951282	10951282	+	Silent	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr21:10951282G>T	ENST00000298232.7	-	9	743	c.376C>A	c.(376-378)Cga>Aga	p.R126R	TPTE_ENST00000342420.5_Silent_p.R106R|TPTE_ENST00000361285.4_Silent_p.R144R|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	144					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R126*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACAAATACTCGAAGAAGAACA	0.358000													16	139					0.000132079	0.000135984	0.575678	1	0
TRIO	7204	broad.mit.edu	37	5	14387596	14387596	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:14387596G>C	ENST00000344204.4	+	22	3644	c.3620G>C	c.(3619-3621)tGt>tCt	p.C1207S	TRIO_ENST00000537187.1_Missense_Mutation_p.C1207S|TRIO_ENST00000509967.2_Missense_Mutation_p.C1158S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1207					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GATGGCTTTTGTGAAAAAGGG	0.448000													19	73					0	0	0.624587	0	0
RASA2	5922	broad.mit.edu	37	3	141326559	141326559	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:141326559T>A	ENST00000286364.3	+	20	2008	c.1973T>A	c.(1972-1974)cTt>cAt	p.L658H	RASA2_ENST00000509118.1_3'UTR|RASA2_ENST00000452898.1_Missense_Mutation_p.L659H			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	658	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AAAAACATTCTTGCTGTGGAA	0.264000													8	46					0	0	0.387290	0	0
ITFG3	83986	broad.mit.edu	37	16	304468	304468	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:304468G>C	ENST00000399932.3	+	3	507	c.56G>C	c.(55-57)aGa>aCa	p.R19T	ITFG3_ENST00000301678.3_Missense_Mutation_p.R19T|ITFG3_ENST00000442458.2_Missense_Mutation_p.R19T|ITFG3_ENST00000600536.1_Missense_Mutation_p.R19T|ITFG3_ENST00000450082.2_Missense_Mutation_p.R19T|ITFG3_ENST00000301679.2_Missense_Mutation_p.R19T	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	19						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				AATGAAGAAAGAAAATCGCAG	0.502000											OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	43	138					0	0	0.870114	0	0
TRPM4	54795	broad.mit.edu	37	19	49674990	49674990	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:49674990C>G	ENST00000252826.5	+	8	1140	c.1014C>G	c.(1012-1014)ttC>ttG	p.F338L	TRPM4_ENST00000427978.2_Missense_Mutation_p.F338L|TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000355712.5_Missense_Mutation_p.F55L	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	338					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCAGGCGTTTCTTTCCCAAAG	0.642000													17	24					0	0	0.557998	0	0
ITK	3702	broad.mit.edu	37	5	156679642	156679642	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:156679642C>T	ENST00000422843.3	+	17	1969	c.1817C>T	c.(1816-1818)tCc>tTc	p.S606F	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	606	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAGCCTTCTCCAGACTGCTG	0.468000			T	SYK	peripheral T-cell lymphoma								37	67					0	0	0.870114	0	0
MYF5	4617	broad.mit.edu	37	12	81111188	81111188	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:81111188C>T	ENST00000228644.3	+	1	498	c.346C>T	c.(346-348)Cag>Tag	p.Q116*		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	116	Helix-loop-helix motif.				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						CAACCCCAACCAGAGGCTGCC	0.592000													17	62					0	0	0.557998	0	0
BARD1	580	broad.mit.edu	37	2	215609878	215609878	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:215609878G>C	ENST00000260947.4	-	9	1950	c.1816C>G	c.(1816-1818)Cat>Gat	p.H606D	BARD1_ENST00000449967.2_Missense_Mutation_p.H462D	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	606	BRCT 1.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACAACAACATGAGTTACTAAA	0.338000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				11	36					0	0	0.457914	0	0
MRPL50	54534	broad.mit.edu	37	9	104153059	104153059	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:104153059G>C	ENST00000374865.4	-	2	187	c.166C>G	c.(166-168)Cga>Gga	p.R56G	MRPL50_ENST00000539624.1_Missense_Mutation_p.R56G	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	56						mitochondrion|ribosome				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				GCTCGGCTTCGTAAAGGTGGA	0.408000													18	58					0	0	0.667858	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687354	68687354	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:68687354G>C	ENST00000361320.4	+	2	1258	c.680G>C	c.(679-681)aGg>aCg	p.R227T	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	227						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CTTTTTCCAAGGTTGGTCAGC	0.453000													20	107					0	0	0.681144	0	0
KIF26B	55083	broad.mit.edu	37	1	245582962	245582962	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:245582962G>A	ENST00000407071.2	+	4	1521	c.1081G>A	c.(1081-1083)Gcc>Acc	p.A361T		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	361					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAAGCCTTCCGCCTGCAGTGT	0.572000													15	56					0	0	0.557998	0	0
XIRP2	129446	broad.mit.edu	37	2	168114810	168114810	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:168114810G>C	ENST00000409728.1	+	11	1942	c.1853G>C	c.(1852-1854)aGa>aCa	p.R618T	XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.R585T|XIRP2_ENST00000409605.1_Missense_Mutation_p.R363T|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.R585T|XIRP2_ENST00000420519.1_Missense_Mutation_p.R618T	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2700					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAGATGTTAGAACTCCAGAA	0.393000													12	99					0	0	0.411799	0	0
PRR11	55771	broad.mit.edu	37	17	57275120	57275120	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:57275120G>A	ENST00000262293.4	+	9	1296	c.984G>A	c.(982-984)gtG>gtA	p.V328V	CTD-2510F5.6_ENST00000577660.1_Silent_p.V35V	NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	328										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TGACTCCAGTGATGACGCAGG	0.428000													21	130					0	0	0.639603	0	0
NGLY1	55768	broad.mit.edu	37	3	25775404	25775404	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:25775404C>T	ENST00000428257.1	-	8	1272	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000417874.2_Missense_Mutation_p.E365K|NGLY1_ENST00000396649.3_Missense_Mutation_p.E407K|NGLY1_ENST00000280700.5_Missense_Mutation_p.E407K|NGLY1_ENST00000467224.1_5'UTR	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	407					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						AGTAATGCTTCTTTAACCTTA	0.343000													11	112					0	0	0.435327	0	0
CCBL2	56267	broad.mit.edu	37	1	89414843	89414843	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:89414843C>T	ENST00000260508.4	-	11	1409	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370491.3_Missense_Mutation_p.E324K	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	358					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCAACACTTTCAAGTAAACGT	0.373000													18	73					0	0	0.608945	0	0
PKP4	8502	broad.mit.edu	37	2	159481626	159481626	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:159481626C>T	ENST00000389757.3	+	7	965	c.840C>T	c.(838-840)gcC>gcT	p.A280A	PKP4_ENST00000389759.3_Silent_p.A280A	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	280					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						AGAGACCCGCCTCCCCAACAG	0.612000										HNSCC(62;0.18)			10	48					0	0	0.361761	0	0
MED4	29079	broad.mit.edu	37	13	48660459	48660459	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr13:48660459G>A	ENST00000258648.2	-	3	347	c.322C>T	c.(322-324)Cag>Tag	p.Q108*	MED4_ENST00000378586.1_Nonsense_Mutation_p.Q62*	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	108					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		TGTAGCTGCTGAATATCACTG	0.338000													18	99					0	0	0.608945	0	0
VIT	5212	broad.mit.edu	37	2	36982074	36982074	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:36982074G>C	ENST00000379242.3	+	5	588	c.286G>C	c.(286-288)Gat>Cat	p.D96H	VIT_ENST00000404084.1_Missense_Mutation_p.D74H|VIT_ENST00000379241.3_Missense_Mutation_p.D96H|VIT_ENST00000401530.1_Missense_Mutation_p.D96H|VIT_ENST00000389975.3_Missense_Mutation_p.D96H|VIT_ENST00000457137.2_Missense_Mutation_p.D96H|VIT_ENST00000497382.1_5'UTR	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	96	LCCL.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGGTGTGCTTGATAATTCAGG	0.393000													34	40					0	0	0.847076	0	0
NKG7	4818	broad.mit.edu	37	19	51875508	51875508	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:51875508C>T	ENST00000221978.5	-	2	390	c.211G>A	c.(211-213)Gtg>Atg	p.V71M	NKG7_ENST00000600427.1_Intron|NKG7_ENST00000595217.1_Intron	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	71						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTCACGGACACCAGGGCCCAC	0.617000													47	117					0	0	0.870114	0	0
SUV420H1	51111	broad.mit.edu	37	11	67957497	67957497	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:67957497C>G	ENST00000304363.4	-	2	400	c.47G>C	c.(46-48)aGa>aCa	p.R16T	SUV420H1_ENST00000405515.1_Missense_Mutation_p.R16T|SUV420H1_ENST00000402185.2_Missense_Mutation_p.R16T|SUV420H1_ENST00000401547.2_Missense_Mutation_p.R16T|SUV420H1_ENST00000402789.1_Missense_Mutation_p.R16T	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.R16I(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GCCTCCATTTCTCCTGCCATT	0.478000													58	292					0	0	0.870114	0	0
KIAA1377	57562	broad.mit.edu	37	11	101857622	101857622	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:101857622G>T	ENST00000263468.8	+	9	3364	c.3094G>T	c.(3094-3096)Gag>Tag	p.E1032*	KIAA1377_ENST00000537689.1_Nonsense_Mutation_p.E833*	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	1032							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATCAGTGCCGGAGGATGAGAT	0.363000													54	144					8.73484e-25	9.9864e-25	0.870114	1	0
UCHL5	51377	broad.mit.edu	37	1	193020927	193020927	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:193020927C>A	ENST00000367455.4	-	2	332	c.97G>T	c.(97-99)Gaa>Taa	p.E33*	UCHL5_ENST00000483156.1_5'UTR|UCHL5_ENST00000367449.1_Nonsense_Mutation_p.E33*|UCHL5_ENST00000367451.4_Nonsense_Mutation_p.E33*|UCHL5_ENST00000367452.4_5'UTR|UCHL5_ENST00000367448.1_Nonsense_Mutation_p.E33*|UCHL5_ENST00000530098.2_5'UTR|UCHL5_ENST00000367454.1_Nonsense_Mutation_p.E33*	NM_001199261.1|NM_015984.3	NP_001186190.1|NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5						DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						CATATTTCTTCTACTTGGGCT	0.249000													23	101					3.90053e-15	4.38094e-15	0.760397	1	0
ZKSCAN5	23660	broad.mit.edu	37	7	99123756	99123756	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:99123756C>T	ENST00000394170.2	+	6	1344	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.R365W|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.R365W	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	365					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TATTCAGCATCGGCGCATCCA	0.537000													14	82					0	0	0.457914	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128842725	128842725	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:128842725G>A	ENST00000310343.9	-	21	3633	c.3634C>T	c.(3634-3636)Cag>Tag	p.Q1212*	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.Q863*|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.Q863*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1212					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GAAGGAGGCTGATCTCCACTG	0.453000													16	37					0	0	0.520397	0	0
DCLK2	166614	broad.mit.edu	37	4	151124998	151124998	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:151124998C>G	ENST00000296550.7	+	5	1767	c.1013C>G	c.(1012-1014)tCc>tGc	p.S338C	DCLK2_ENST00000302176.8_Missense_Mutation_p.S355C|DCLK2_ENST00000506325.1_Missense_Mutation_p.S338C	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	338	Ser-rich.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ACGAAATCCTCCAGTTCCTCT	0.393000													18	109					0	0	0.608945	0	0
MAPK4	5596	broad.mit.edu	37	18	48241459	48241459	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr18:48241459C>T	ENST00000400384.2	+	3	1593	c.557C>T	c.(556-558)tCa>tTa	p.S186L	MAPK4_ENST00000592595.1_Missense_Mutation_p.S186L|MAPK4_ENST00000540640.1_5'UTR	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	186	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GGTTATCTGTCAGAAGGGTTG	0.512000													21	117					0	0	0.681144	0	0
ZNF287	57336	broad.mit.edu	37	17	16470799	16470799	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:16470799G>A	ENST00000395824.1	-	2	864	c.247C>T	c.(247-249)Cac>Tac	p.H83Y	ZNF287_ENST00000395825.3_Missense_Mutation_p.H83Y			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	76	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TCCTTTGAGTGAATCTCAGGT	0.493000													14	115					0	0	0.479597	0	0
FNDC1	84624	broad.mit.edu	37	6	159653694	159653694	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr6:159653694C>G	ENST00000297267.9	+	11	2350	c.2150C>G	c.(2149-2151)tCa>tGa	p.S717*	FNDC1_ENST00000340366.6_Nonsense_Mutation_p.S654*	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	717	Ser-rich.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCCACCCTCAAGACTTTCT	0.657000													7	16					0	0	0.248553	0	0
MARK2	2011	broad.mit.edu	37	11	63668461	63668461	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:63668461G>T	ENST00000402010.2	+	11	1600	c.1021G>T	c.(1021-1023)Gag>Tag	p.E341*	MARK2_ENST00000413835.2_Nonsense_Mutation_p.E341*|MARK2_ENST00000509502.2_Nonsense_Mutation_p.E308*|MARK2_ENST00000425897.2_Nonsense_Mutation_p.E308*|MARK2_ENST00000408948.3_Nonsense_Mutation_p.E308*|MARK2_ENST00000513765.2_Nonsense_Mutation_p.E308*|MARK2_ENST00000361128.5_Nonsense_Mutation_p.E341*|MARK2_ENST00000502399.3_Nonsense_Mutation_p.E341*|MARK2_ENST00000350490.7_Nonsense_Mutation_p.E341*|MARK2_ENST00000377810.3_Nonsense_Mutation_p.E308*|MARK2_ENST00000377809.4_Nonsense_Mutation_p.E341*|MARK2_ENST00000315032.8_Nonsense_Mutation_p.E341*|MARK2_ENST00000508192.1_Nonsense_Mutation_p.E341*	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	341	UBA.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						TACACGGGAAGAGATCCAGGA	0.577000													10	96					1.08611e-07	1.16848e-07	0.387290	1	0
ZIK1	284307	broad.mit.edu	37	19	58101751	58101751	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:58101751G>A	ENST00000597850.1	+	4	787	c.572G>A	c.(571-573)gGc>gAc	p.G191D	ZIK1_ENST00000599456.1_Missense_Mutation_p.G136D|ZIK1_ENST00000536878.2_Missense_Mutation_p.G178D|ZIK1_ENST00000307468.4_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTTCCTGGAGGCAAGAAACCC	0.498000													39	57					0	0	0.859065	0	0
KCNH4	23415	broad.mit.edu	37	17	40315336	40315336	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:40315336C>A	ENST00000264661.3	-	14	2826	c.2494G>T	c.(2494-2496)Gag>Tag	p.E832*	KCNH4_ENST00000607371.1_Nonsense_Mutation_p.E832*	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	832					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCAGAGTCCTCAATGCCATCC	0.632000													6	25					3.59834e-05	3.77579e-05	0.217242	1	0
TTN	7273	broad.mit.edu	37	2	179605206	179605206	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:179605206G>C	ENST00000589042.1	-	48	12978	c.12754C>G	c.(12754-12756)Ctt>Gtt	p.L4252V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L3935V|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.L4081V|TTN_ENST00000359218.5_Missense_Mutation_p.L4014V|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L3889V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3935							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTTTTGAAGAGTCACTCTT	0.463000													7	37					0	0	0.307466	0	0
C1orf86	199990	broad.mit.edu	37	1	2121153	2121153	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:2121153A>G	ENST00000378545.3	-	5	846	c.847T>C	c.(847-849)Tgg>Cgg	p.W283R	C1orf86_ENST00000378546.4_Missense_Mutation_p.W180R|C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000400919.3_5'UTR	NM_001282670.1	NP_001269599.1	Q6NZ36	CA086_HUMAN	chromosome 1 open reading frame 86	180										central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GGCGCTCACCACGTCACGTCT	0.706000													12	40					0	0	0.457914	0	0
FGD4	121512	broad.mit.edu	37	12	32729320	32729320	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:32729320C>G	ENST00000427716.2	+	3	453	c.29C>G	c.(28-30)tCt>tGt	p.S10C	FGD4_ENST00000525053.1_Missense_Mutation_p.S122C|FGD4_ENST00000531134.1_Missense_Mutation_p.S95C|FGD4_ENST00000473513.1_3'UTR|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000534526.2_Missense_Mutation_p.S147C|FGD4_ENST00000546442.1_Intron|FGD4_ENST00000472289.1_Missense_Mutation_p.S10C	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	10	Actin filament-binding (By similarity).				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GCCTCTGCTTCTTGTGTCTCA	0.443000													18	68					0	0	0.624587	0	0
PRDM15	63977	broad.mit.edu	37	21	43222983	43222983	+	Silent	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr21:43222983C>G	ENST00000422911.1	-	24	3104	c.3003G>C	c.(3001-3003)gcG>gcC	p.A1001A	PRDM15_ENST00000398548.1_Silent_p.A981A|PRDM15_ENST00000538201.1_Silent_p.A964A|PRDM15_ENST00000447207.2_Silent_p.A944A|PRDM15_ENST00000269844.3_Silent_p.A1310A|PRDM15_ENST00000470586.1_5'UTR	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	1310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A1310A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCGGAGCACCCGCCTCCTCTT	0.577000													47	294					0	0	0.870114	0	0
SAFB2	9667	broad.mit.edu	37	19	5613501	5613501	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:5613501G>T	ENST00000252542.4	-	5	845	c.581C>A	c.(580-582)tCa>tAa	p.S194*		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GTTCAACGATGAAGTTTCCAA	0.423000													17	59					7.41877e-09	8.11826e-09	0.608945	1	0
DONSON	29980	broad.mit.edu	37	21	34951767	34951767	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr21:34951767C>T	ENST00000303071.5	-	9	1518	c.1452G>A	c.(1450-1452)ctG>ctA	p.L484L	DONSON_ENST00000303113.6_Silent_p.L470L|DONSON_ENST00000432378.1_Intron|DONSON_ENST00000453626.1_Intron	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	484					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						GCAGCATGGTCAGTGAATGCA	0.443000													23	134					0	0	0.706142	0	0
ADCY2	108	broad.mit.edu	37	5	7773096	7773096	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:7773096C>T	ENST00000338316.4	+	18	2355	c.2266C>T	c.(2266-2268)Cgg>Tgg	p.R756W	ADCY2_ENST00000537121.1_Missense_Mutation_p.R576W	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	756					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CGTGTTCCTGCGGGTAAACTA	0.502000													26	126					0	0	0.729181	0	0
TMEM130	222865	broad.mit.edu	37	7	98449087	98449087	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:98449087G>C	ENST00000450876.1	-	6	2026	c.711C>G	c.(709-711)atC>atG	p.I237M	TMEM130_ENST00000345589.4_Missense_Mutation_p.I219M|TMEM130_ENST00000339375.4_Missense_Mutation_p.I321M|TMEM130_ENST00000416379.2_Missense_Mutation_p.I321M|TMEM130_ENST00000546258.1_Missense_Mutation_p.I302M			Q8N3G9	TM130_HUMAN	transmembrane protein 130	321						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTGTCTTGCTGATGATATTCT	0.582000													11	106					0	0	0.435327	0	0
CALM2	805	broad.mit.edu	37	2	47389450	47389450	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:47389450C>G	ENST00000272298.7	-	4	417	c.260G>C	c.(259-261)aGa>aCa	p.R87T	RP11-761B3.1_ENST00000422269.1_Intron|CALM2_ENST00000484408.1_5'UTR|CALM2_ENST00000409563.1_Missense_Mutation_p.R134T	NM_001743.4	NP_001734.1	P62158	CALM_HUMAN	calmodulin 2 (phosphorylase kinase, delta)	87	EF-hand 3.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding	p.0?(2)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	GAATGCTTCTCTAATTTCTTC	0.368000													6	43					0	0	0.307466	0	0
SMC1A	8243	broad.mit.edu	37	X	53438989	53438989	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chrX:53438989C>T	ENST00000322213.4	-	6	1196	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	357					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CTCTGACTCTCTTCTTCCATC	0.527000													4	6					0	0	0.150653	0	0
TRAM1	23471	broad.mit.edu	37	8	71520314	71520314	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr8:71520314C>G	ENST00000262213.2	-	1	290	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000536748.1_Missense_Mutation_p.E10Q	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	41					cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			GGGCTCACCTCAAACATGAGC	0.692000													3	33					0	0	0.115264	0	0
GLB1L3	112937	broad.mit.edu	37	11	134162074	134162074	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:134162074G>A	ENST00000389887.5	+	8	3274	c.778G>A	c.(778-780)Gag>Aag	p.E260K	GLB1L3_ENST00000431683.2_Missense_Mutation_p.E260K			Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	260					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CTCTGATGGTGAGAAACATGT	0.473000													15	26					0	0	0.575678	0	0
CCT6A	908	broad.mit.edu	37	7	56126340	56126340	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:56126340C>G	ENST00000275603.4	+	8	1132	c.913C>G	c.(913-915)Ctt>Gtt	p.L305V	CCT6A_ENST00000335503.3_Missense_Mutation_p.L260V|CCT6A_ENST00000540286.1_Missense_Mutation_p.L274V	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	305					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTAGATGCTCTTTCAAAAGA	0.343000													14	45					0	0	0.520397	0	0
PARD3	56288	broad.mit.edu	37	10	34601309	34601309	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:34601309G>C	ENST00000340077.5	-	21	3396	c.3067C>G	c.(3067-3069)Ctt>Gtt	p.L1023V	PARD3_ENST00000374789.3_Intron|PARD3_ENST00000545693.1_Intron|PARD3_ENST00000466092.1_Intron|PARD3_ENST00000374794.3_Intron|PARD3_ENST00000545260.1_Intron|PARD3_ENST00000374788.3_Intron|PARD3_ENST00000374773.1_Splice_Site_p.L993V|PARD3_ENST00000346874.4_Intron|PARD3_ENST00000374790.3_Intron|PARD3_ENST00000350537.4_Intron|PARD3_ENST00000374776.1_Splice_Site_p.L980V|PARD3_ENST00000544292.1_Splice_Site_p.L739V	NM_001184792.1	NP_001171721.1	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1026	Lys-rich.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AGTTTGGCAAGGCTAAATGAG	0.378000													8	244					0	0	0.361761	0	0
CROT	54677	broad.mit.edu	37	7	87020948	87020948	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:87020948C>T	ENST00000331536.3	+	14	1530	c.1345C>T	c.(1345-1347)Cat>Tat	p.H449Y	CROT_ENST00000442291.1_Missense_Mutation_p.H449Y|CROT_ENST00000419147.2_Missense_Mutation_p.H477Y	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	449					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	ACATTTTTATCATGGCCGTAC	0.388000													23	46					0	0	0.729181	0	0
BBS7	55212	broad.mit.edu	37	4	122766713	122766713	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr4:122766713G>A	ENST00000264499.4	-	11	1359	c.1176C>T	c.(1174-1176)gcC>gcT	p.A392A	BBS7_ENST00000506636.1_Silent_p.A392A	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	392					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GGCTGTAACTGGCATCATCTT	0.313000									Bardet-Biedl syndrome				12	44					0	0	0.457914	0	0
MARK1	4139	broad.mit.edu	37	1	220792050	220792050	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:220792050C>A	ENST00000402574.1	+	9	1459	c.457C>A	c.(457-459)Ctg>Atg	p.L153M	MARK1_ENST00000366918.4_Missense_Mutation_p.L266M|MARK1_ENST00000366917.4_Missense_Mutation_p.L288M	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	288	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TGAAAATCTTCTGAAGAAATT	0.333000													10	52					0.00010058	0.000103833	0.411799	1	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													4	116					0	0	0.150653	0	0
CEP170	9859	broad.mit.edu	37	1	243349256	243349256	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr1:243349256G>A	ENST00000366542.1	-	10	1442	c.1391C>T	c.(1390-1392)tCa>tTa	p.S464L	CEP170_ENST00000366544.1_Intron|CEP170_ENST00000366543.1_Intron	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	464						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			AAGACTCCCTGAACTTCTTAA	0.418000													4	43					0	0	0.150653	0	0
OR4C13	283092	broad.mit.edu	37	11	49974700	49974700	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:49974700C>G	ENST00000555099.1	+	1	758	c.726C>G	c.(724-726)atC>atG	p.I242M		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCTCCCACATCACAGTTGTCA	0.463000													21	122					0	0	0.654019	0	0
PSG1	5669	broad.mit.edu	37	19	43382064	43382064	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr19:43382064C>T	ENST00000244296.2	-	2	568		c.e2+1		PSG1_ENST00000436291.2_Splice_Site|PSG1_ENST00000595124.1_Splice_Site|PSG1_ENST00000312439.6_Splice_Site|PSG1_ENST00000403380.3_Splice_Site|PSG1_ENST00000595356.1_Splice_Site|PSG1_ENST00000601073.1_Splice_Site	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GAATCACTTACGGTGTAAGGT	0.517000													127	204					0	0	0.870114	0	0
DNAH2	146754	broad.mit.edu	37	17	7643863	7643863	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr17:7643863G>A	ENST00000572933.1	+	10	2962	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	DNAH2_ENST00000082259.3_Missense_Mutation_p.R583H|DNAH2_ENST00000570791.1_Missense_Mutation_p.R583H|DNAH2_ENST00000389173.2_Missense_Mutation_p.R501H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	501	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTTGCCTCCCGCGAGGTGCGG	0.672000													14	107					0	0	0.557998	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603436	140603436	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:140603436A>G	ENST00000239449.4	+	1	359	c.359A>G	c.(358-360)gAg>gGg	p.E120G	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		120	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCGGTTTGAGCTGTGTGTC	0.423000													24	85					0	0	0.740014	0	0
PRCP	5547	broad.mit.edu	37	11	82560964	82560964	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:82560964G>C	ENST00000313010.3	-	5	937	c.743C>G	c.(742-744)tCa>tGa	p.S248*	PRCP_ENST00000393399.2_Nonsense_Mutation_p.S269*|PRCP_ENST00000535099.1_Nonsense_Mutation_p.S143*	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	248	SKS domain.				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ACCAGTATTTGAGAGTCGATT	0.348000													9	99					0	0	0.435327	0	0
PCSK2	5126	broad.mit.edu	37	20	17445975	17445975	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr20:17445975G>A	ENST00000262545.2	+	11	1522	c.1207G>A	c.(1207-1209)Ggt>Agt	p.G403S	PCSK2_ENST00000536609.1_Missense_Mutation_p.G368S|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.G384S	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	403	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATCCAGCCTGGGTCTGACCTG	0.562000													21	42					0	0	0.639603	0	0
THRSP	7069	broad.mit.edu	37	11	77775045	77775045	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:77775045G>A	ENST00000281030.2	+	1	139	c.118G>A	c.(118-120)Gtg>Atg	p.V40M	NDUFC2-KCTD14_ENST00000530054.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	40					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			TCTGCGGGACGTGCAGCTGAG	0.617000													21	110					0	0	0.624587	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866328	131866328	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:131866328C>T	ENST00000359827.3	-	18	4266	c.3304G>A	c.(3304-3306)Gct>Act	p.A1102T	PLXNA4_ENST00000321063.4_Missense_Mutation_p.A1102T			Q9HCM2	PLXA4_HUMAN	plexin A4	1102	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGACCCAGAGCGAGGGCGGGC	0.577000													21	36					0	0	0.624587	0	0
CKAP5	9793	broad.mit.edu	37	11	46783565	46783565	+	Silent	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:46783565G>A	ENST00000529230.1	-	32	4252	c.4206C>T	c.(4204-4206)ttC>ttT	p.F1402F	CKAP5_ENST00000415402.1_Silent_p.F1402F|CKAP5_ENST00000312055.5_Silent_p.F1402F|CKAP5_ENST00000354558.3_Silent_p.F1402F			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1402					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CAATCAGTTTGAACACCTGAT	0.443000													26	100					0	0	0.717897	0	0
RB1	5925	broad.mit.edu	37	13	49027133	49027133	+	Missense_Mutation	SNP	C	C	T	rs137853292		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr13:49027133C>T	ENST00000267163.4	+	18	1838	c.1700C>T	c.(1699-1701)tCa>tTa	p.S567L		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	567	Domain A.|Pocket; binds T and E1A.		S -> L (in RB).		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)|p.S567*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATATAGGATTCACCTTTATTT	0.333000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			16	34					0	0	0.520397	0	0
DGKB	1607	broad.mit.edu	37	7	14724975	14724975	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:14724975C>T	ENST00000403951.2	-	10	1143	c.724G>A	c.(724-726)Gat>Aat	p.D242N	DGKB_ENST00000399322.3_Missense_Mutation_p.D242N|DGKB_ENST00000402815.1_Missense_Mutation_p.D242N|DGKB_ENST00000444700.2_Missense_Mutation_p.D235N|DGKB_ENST00000258767.5_Missense_Mutation_p.D242N|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000407950.1_Missense_Mutation_p.D235N|DGKB_ENST00000406247.3_Missense_Mutation_p.D242N			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	242					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGCTGTCCATCATCCTTCACG	0.463000													19	72					0	0	0.667858	0	0
GTF3C1	2975	broad.mit.edu	37	16	27518439	27518439	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr16:27518439C>G	ENST00000356183.4	-	9	1296	c.1281G>C	c.(1279-1281)aaG>aaC	p.K427N	GTF3C1_ENST00000561623.1_Missense_Mutation_p.K427N	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	427						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AGGAAATGTACTTGGTGGTTC	0.552000													18	80					0	0	0.639603	0	0
VPS13A	23230	broad.mit.edu	37	9	79898509	79898509	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr9:79898509C>T	ENST00000360280.3	+	31	3542	c.3282C>T	c.(3280-3282)aaC>aaT	p.N1094N	VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Silent_p.N1094N|VPS13A_ENST00000376634.4_Silent_p.N1094N|VPS13A_ENST00000376636.3_Silent_p.N1055N	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1094					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTGAAATAAACGCAAAGCTAA	0.284000													18	28					0	0	0.624587	0	0
TMTC3	160418	broad.mit.edu	37	12	88584258	88584258	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:88584258G>A	ENST00000266712.6	+	12	1785	c.1565G>A	c.(1564-1566)aGa>aAa	p.R522K		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	522						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TATGCAGCCAGAATTGCCCCT	0.373000													11	68					0	0	0.500413	0	0
SEMA5A	9037	broad.mit.edu	37	5	9197325	9197325	+	Silent	SNP	C	C	T			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:9197325C>T	ENST00000382496.5	-	10	1688	c.1023G>A	c.(1021-1023)tcG>tcA	p.S341S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	341	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.S341S(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						AGGCCGAGCGCGAGTTTTCTT	0.592000													18	64					0	0	0.557998	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64617494	64617494	+	Silent	SNP	T	T	C			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:64617494T>C	ENST00000498707.1	-	15	2625	c.2283A>G	c.(2281-2283)acA>acG	p.T761T	ADAMTS9_ENST00000295903.4_Silent_p.T733T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	761	Spacer.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CATAATGTACTGTATTAAATG	0.358000													18	86					0	0	0.592651	0	0
ZXDC	79364	broad.mit.edu	37	3	126178522	126178522	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr3:126178522delT	ENST00000389709.3	-	7	2239	c.2186delA	c.(2185-2187)aagfs	p.K729fs		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	729					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TCCTCTCTGCTTTTTTTCCTT	0.522													10	890	---	---	---	---					
PCDHA11	56138	broad.mit.edu	37	5	140249748	140249748	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr5:140249748delT	ENST00000398640.2	+	1	1060	c.1060delT	c.(1060-1062)ttgfs	p.L354fs	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGACTTCCTTGTCCCTCCC	0.572													43	66	---	---	---	---					
PSPH	5723	broad.mit.edu	37	7	56087292	56087292	+	Splice_Site	DEL	C	C	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:56087292delC	ENST00000395471.3	-	5	1081		c.e5+1		PSPH_ENST00000275605.3_Splice_Site|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase						L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTTCCTCTTACCTTATGCCGG	0.577													9	98	---	---	---	---					
CCT6P1	643253	broad.mit.edu	37	7	65222951	65222951	+	RNA	DEL	T	T	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:65222951delT	ENST00000442266.1	+	0	561																											TTTCTGTAACTTTTTTTTTTT	0.323													3	6	---	---	---	---					
ZNF777	27153	broad.mit.edu	37	7	149128965	149128966	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr7:149128965_149128966delGC	ENST00000247930.4	-	6	2720_2721	c.2397_2398delGC	c.(2395-2400)gcgcacfs	p.H800fs		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCGCCCGTGTGCGCGCGCTGGT	0.678													8	43	---	---	---	---					
CCAR1	55749	broad.mit.edu	37	10	70509285	70509286	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:70509285_70509286delGA	ENST00000265872.6	+	10	1080_1081	c.961_962delGA	c.(961-963)gagfs	p.E321fs	CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	321	Arg-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTTCAGTCGTGAGAGAGAGAGA	0.391													8	65	---	---	---	---					
PLAU	5328	broad.mit.edu	37	10	75673458	75673459	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr10:75673458_75673459delGT	ENST00000446342.1	+	6	1053_1054	c.571_572delGT	c.(571-573)gtgfs	p.V191fs	C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372762.4_Frame_Shift_Del_p.V172fs|PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Frame_Shift_Del_p.V208fs	NM_001145031.1	NP_001138503	P00749	UROK_HUMAN	plasminogen activator, urokinase	208	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	TGTCACCTACGTGTGTGGAGGC	0.599													202	79	---	---	---	---					
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:76506673_76506675delCTG	ENST00000527881.1	+	2	1039_1041	c.13_15delCTG	c.(13-15)ctgdel	p.L9del	TSKU_ENST00000333090.4_In_Frame_Del_p.L9del			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	9						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616													9	108	---	---	---	---					
KMT2A	4297	broad.mit.edu	37	11	118374297	118374298	+	Frame_Shift_Ins	INS	-	-	CCTC			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr11:118374297_118374298insCCTC	ENST00000534358.1	+	27	7713_7714	c.7690_7691insCCTC	c.(7690-7692)gccfs	p.-2565fs	KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.-2524fs|KMT2A_ENST00000389506.5_Frame_Shift_Ins_p.-2562fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		ACCAATTTCAGCCTCTGAAAAT	0.431													20	59	---	---	---	---					
DNM1L	10059	broad.mit.edu	37	12	32861134	32861135	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:32861134_32861135delAG	ENST00000452533.2	+	4	509_510	c.345_346delAG	c.(343-348)acagaafs	p.E116fs	DNM1L_ENST00000381000.4_Frame_Shift_Del_p.E129fs|DNM1L_ENST00000547312.1_Frame_Shift_Del_p.E116fs|DNM1L_ENST00000553257.1_Frame_Shift_Del_p.E129fs|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000549701.1_Frame_Shift_Del_p.E116fs|DNM1L_ENST00000358214.5_Frame_Shift_Del_p.E129fs|DNM1L_ENST00000266481.6_Frame_Shift_Del_p.E116fs	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	116	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AAAATGAAACAGAAAGAATTTC	0.262													45	49	---	---	---	---					
ASCL1	429	broad.mit.edu	37	12	103352172	103352174	+	In_Frame_Del	DEL	GCA	GCA	-	rs72405287		TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr12:103352172_103352174delGCA	ENST00000266744.3	+	1	709_711	c.150_152delGCA	c.(148-153)gcgcag>gcg	p.Q62del		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	62	Poly-Gln.			Q -> QQQ (in Ref. 1).	cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						cgcagagcgcgcagcagcagcag	0.754													2	4	---	---	---	---					
BEGAIN	57596	broad.mit.edu	37	14	101005271	101005273	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr14:101005271_101005273delCCT	ENST00000556751.1	-	5	4027_4029	c.623_625delAGG	c.(622-627)gaggcc>gcc	p.E208del	BEGAIN_ENST00000443071.2_In_Frame_Del_p.E272del|BEGAIN_ENST00000355173.2_In_Frame_Del_p.E272del			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	272						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				GCCGCCTCGGCCTCCTCCTCCTC	0.724													7	18	---	---	---	---					
RP11-410N8.1	0	broad.mit.edu	37	20	31173162	31173164	+	RNA	DEL	TCC	TCC	-			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chr20:31173162_31173164delTCC	ENST00000457213.1	+	0	162																											CCGCGGctcttcctcctcctcct	0.744													2	4	---	---	---	---					
ITIH6	347365	broad.mit.edu	37	X	54824559	54824560	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FD-A3B6-01A-21D-A20D-08	TCGA-FD-A3B6-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36524c53-ac54-4a42-a982-bed2e4354268	c92207a3-53ed-4c88-9234-ade71d89f609	g.chrX:54824559_54824560insG	ENST00000218436.6	-	1	113_114	c.84_85insC	c.(82-87)cccgctfs	p.A29fs		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	29	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										CTTGATGAAGCGGGGACAGGGG	0.480													2	4	---	---	---	---