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
NALCN	259232	broad.mit.edu	37	13	101881861	101881861	+	Silent	SNP	T	T	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr13:101881861T>C	uc001vox.1	-	12	1698	c.1509A>G	c.(1507-1509)ggA>ggG	p.G503G	NALCN_uc001voy.3_Silent_p.G218G|NALCN_uc001voz.2_Silent_p.G503G|NALCN_uc001vpa.2_Silent_p.G503G	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	503						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAAGCTTTTTTCCAGGACCAA	0.398000													6	8					0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6816105	6816105	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr11:6816105C>A	uc001mes.1	-	0	1035	c.835G>T	c.(835-837)Gtc>Ttc	p.V279F		NM_003696	NP_003687	O95222	OR6A2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L278F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTACAGAGACCAACTTGTTG	0.468000													14	116					3.41278e-10	3.64815e-10	1	1	0
SF3B1	23451	broad.mit.edu	37	2	198265617	198265617	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr2:198265617G>A	uc002uue.3	-	17	2588	c.2540C>T	c.(2539-2541)gCa>gTa	p.A847V	SNORD2_uc021vul.1_5'Flank	NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	847					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TATAATTTCTGCTGCACCTAC	0.358000			Mis		myelodysplastic syndrome								9	47					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118497	118497	+	RNA	SNP	G	G	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chrGL000205.1:118497G>T	uc002kgk.4	+	0		c.1875G>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AATGCCGGAAGGTAATTATTC	0.453000													6	24					0.248553	0.248553	1	1	0
COMMD3-BMI1	100532731	broad.mit.edu	37	10	22618246	22618246	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr10:22618246C>G	uc009xkg.3	+	13	1220	c.1185C>G	c.(1183-1185)gaC>gaG	p.D395E	COMMD3-BMI1_uc001irh.3_Missense_Mutation_p.D252E	NM_001204062	NP_001190991	P35226	BMI1_HUMAN	Homo sapiens COMMD3-BMI1 readthrough (COMMD3-BMI1), mRNA.	252					hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	PcG protein complex|cytoplasm|nucleolus|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding										TGGAAAGTGACTCTGGGAGTG	0.493000													17	39					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37680577	37680577	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr19:37680577C>T	uc002ofq.3	-	3	530	c.278G>A	c.(277-279)cGt>cAt	p.R93H	ZNF585B_uc002ofr.1_5'UTR	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	93	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCAGCTGTGACGTGGCCTCTC	0.498000													8	137					0	0	1	0	0
PFKFB3	5209	broad.mit.edu	37	10	6255641	6255641	+	Silent	SNP	C	C	T	rs146319524		TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr10:6255641C>T	uc001ije.3	+	1	516	c.132C>T	c.(130-132)ccC>ccT	p.P44P	PFKFB3_uc001ijd.3_Silent_p.P24P|PFKFB3_uc009xii.3_Non-coding_Transcript|PFKFB3_uc010qaw.2_Silent_p.P58P|PFKFB3_uc001ijf.3_Silent_p.P44P	NM_004566	NP_004557	Q16875	F263_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA.	44	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TGGGCCTCCCCGCCCGGGGCA	0.597000													22	40					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57728648	57728648	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr17:57728648G>T	uc002ixr.1	+	4	1221	c.778G>T	c.(778-780)Gca>Tca	p.A260S	CLTC_uc002ixp.3_Missense_Mutation_p.A256S|CLTC_uc002ixq.1_Missense_Mutation_p.A256S	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	256	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCCTCCAGAAGCACAAAATGA	0.353000			T	"""ALK, TFE3"""	"""ALCL, renal """								7	144					6.5536e-12	7.19156e-12	1	1	0
OLFML2B	25903	broad.mit.edu	37	1	161989778	161989778	+	Silent	SNP	C	C	G	rs138821383	by1000genomes	TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr1:161989778C>G	uc010pkq.2	-	1	793	c.369G>C	c.(367-369)tcG>tcC	p.S123S	OLFML2B_uc001gbu.3_Silent_p.S123S	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	123										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GATTGAGGGCCGATGGGGGTG	0.592000													6	150					0	0	1	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217223	26217223	+	Missense_Mutation	SNP	A	A	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr6:26217223A>T	uc003nha.1	+	0	76	c.21A>T	c.(19-21)caA>caT	p.Q7H	HIST1H2BG_uc003ngz.2_5'Flank	NM_021052	NP_066390	P04908	H2A1B_HUMAN	Homo sapiens histone cluster 1, H2ae (HIST1H2AE), mRNA.	7					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				GTGGAAAGCAAGGCGGCAAAG	0.502000													54	47					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38962716	38962716	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr3:38962716C>T	uc021wvy.1	-	5	942	c.743G>A	c.(742-744)cGc>cAc	p.R248H		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	248					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTTCACAGAGCGTAGCAAGGC	0.542000													81	26					0	0	1	0	0
CBX4	8535	broad.mit.edu	37	17	77807886	77807886	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr17:77807886G>C	uc002jxe.3	-	4	1718	c.1555C>G	c.(1555-1557)Cca>Gca	p.P519A		NM_003655	NP_003646	O00257	CBX4_HUMAN	Homo sapiens chromobox homolog 4 (CBX4), mRNA.	519	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCCTCGGCTGGAGGCTTCTCC	0.672000													6	55					0	0	1	0	0
RRN3	54700	broad.mit.edu	37	16	15168670	15168670	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr16:15168670G>T	uc002dde.3	-	10	975	c.907C>A	c.(907-909)Ctc>Atc	p.L303I	PDXDC1_uc002ddc.3_Intron|RRN3_uc010uzp.2_Missense_Mutation_p.L171I|RRN3_uc010uzq.2_Missense_Mutation_p.L273I	NM_018427	NP_060897	Q9NYV6	RRN3_HUMAN	Homo sapiens RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) (RRN3), mRNA.	303					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						ATCTGGTCGAGCCGTTCAGGA	0.413000													5	65					3.59834e-05	3.7813e-05	1	1	0
GUCY1B3	2983	broad.mit.edu	37	4	156724870	156724870	+	Missense_Mutation	SNP	T	T	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr4:156724870T>G	uc003ipc.3	+	10	1675	c.1508T>G	c.(1507-1509)aTg>aGg	p.M503R	GUCY1B3_uc011cio.2_Missense_Mutation_p.M525R|GUCY1B3_uc011cip.2_Missense_Mutation_p.M483R|GUCY1B3_uc003ipd.3_Missense_Mutation_p.M431R|GUCY1B3_uc010iqf.3_Missense_Mutation_p.M470R|GUCY1B3_uc010iqg.3_Missense_Mutation_p.M474R|GUCY1B3_uc011ciq.2_Missense_Mutation_p.M431R	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	Homo sapiens guanylate cyclase 1, soluble, beta 3 (GUCY1B3), mRNA.	503	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GCCTTGGACATGATGGAAATT	0.423000													4	28					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10089633	10089633	+	Silent	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr3:10089633G>A	uc003buw.3	+	15	1389	c.1311G>A	c.(1309-1311)tcG>tcA	p.S437S	FANCD2_uc003bux.1_Silent_p.S437S|FANCD2_uc003buy.1_Silent_p.S437S|FANCD2_uc010hcw.1_5'Flank	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	437					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)		CCATTCTGTCGCTGGCTCAGA	0.408000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				5	84					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51889790	51889790	+	Silent	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr6:51889790G>A	uc003pah.1	-	31	5094	c.4818C>T	c.(4816-4818)gtC>gtT	p.V1606V	PKHD1_uc003pai.3_Silent_p.V1606V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1606	IPT/TIG 11.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGTCAATATAGACTGACGTGG	0.507000													7	153					0	0	1	0	0
RNF133	168433	broad.mit.edu	37	7	122338189	122338189	+	Missense_Mutation	SNP	G	G	A	rs137950690		TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr7:122338189G>A	uc003vkj.1	-	0	1020	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	Homo sapiens ring finger protein 133 (RNF133), mRNA.	262						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	p.R262L(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GGCTTATAGCGTTCAAAGCAA	0.403000													5	143					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79165083	79165083	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr17:79165083C>A	uc002jzp.1	-	21	2884	c.2684G>T	c.(2683-2685)gGc>gTc	p.G895V	AZI1_uc002jzm.1_Missense_Mutation_p.G327V|AZI1_uc002jzn.1_Missense_Mutation_p.G892V|AZI1_uc002jzo.1_Missense_Mutation_p.G856V|AZI1_uc010wum.1_Missense_Mutation_p.G859V|AZI1_uc002jzq.3_Missense_Mutation_p.G43V	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	895					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTTGTCCCGGCCTTTCCGGAT	0.667000													19	78					1.38854e-25	1.59425e-25	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140711698	140711698	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr5:140711698G>A	uc003lji.2	+	0	1447	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	PCDHGC5_uc011dan.2_Missense_Mutation_p.E483K	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	485	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACAGCAATGAGAATGCACA	0.537000													14	53					0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59282746	59282746	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr11:59282746G>C	uc010rkv.2	+	0	361	c.361G>C	c.(361-363)Gac>Cac	p.D121H		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						GATGGCGTTTGACCGCTATAT	0.522000													6	48					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134726621	134726621	+	Silent	SNP	G	G	C	rs4880467	by1000genomes	TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr10:134726621G>C	uc021qbc.1	-	17	2363	c.2262C>G	c.(2260-2262)gcC>gcG	p.A754A	TTC40_uc009ybf.2_Silent_p.A37A	NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	0										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TCTGCCGCCCGGCCAGGATCA	0.637000													4	197					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158596772	158596772	+	Missense_Mutation	SNP	T	T	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr1:158596772T>C	uc001fst.1	-	40	5889	c.5690A>G	c.(5689-5691)aAa>aGa	p.K1897R		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1897					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGAAATCTCTTTGTTCTGACT	0.413000													17	84					0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32956104	32956104	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr17:32956104C>G	uc002hif.3	+	4	1277	c.949C>G	c.(949-951)Cgg>Ggg	p.R317G		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	317						integral to membrane		p.R317W(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTCAGTCAAGCGGAGGATCAT	0.612000													6	226					0	0	1	0	0
ZBP1	81030	broad.mit.edu	37	20	56195329	56195329	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr20:56195329G>A	uc002xyo.3	-	0	304	c.23C>T	c.(22-24)cCg>cTg	p.P8L	ZBP1_uc010gjm.3_Missense_Mutation_p.P8L|ZBP1_uc002xyp.3_Missense_Mutation_p.P8L|ZBP1_uc010zzn.2_Missense_Mutation_p.P8L	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	8						cytoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TTCTCTGCCCGGGTCAGCAGG	0.587000													7	188					0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49431988	49431988	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr12:49431988C>G	uc001rta.4	-	33	9151	c.9151G>C	c.(9151-9153)Gca>Cca	p.A3051P		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	3051					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.R3051*(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TCAGTATATGCCAGCAGGTCA	0.517000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			50	158					0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78413254	78413254	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr11:78413254C>A	uc001ozl.4	-	27	4867	c.4404G>T	c.(4402-4404)gaG>gaT	p.E1468D		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1468					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CGGTGGCTGACTCCAGGGTTG	0.567000													24	24					3.65163e-15	4.15415e-15	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13771076	13771076	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr5:13771076G>T	uc003jfd.2	-	55	9429	c.9387C>A	c.(9385-9387)ttC>ttA	p.F3129L	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3129	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGGAAGTGAGGAAGTGTTCAG	0.388000									Kartagener syndrome				6	78					1.6384e-10	1.76662e-10	1	1	0
PLEKHM3	389072	broad.mit.edu	37	2	208725904	208725904	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr2:208725904C>G	uc002vcl.2	-	6	2523	c.2033G>C	c.(2032-2034)aGc>aCc	p.S678T		NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	678					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCCTTCTGGCTACAAAGACT	0.418000													6	102					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	54244014	54244014	+	Silent	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr4:54244014C>T	uc003haa.3	+	0	195	c.9C>T	c.(7-9)gcC>gcT	p.A3A	PDGFRA_uc003gzx.4_Silent_p.A3A|PDGFRA_uc011bzt.1_Silent_p.A3A|PDGFRA_uc003gzy.3_Silent_p.A3A|PDGFRA_uc011bzu.2_Silent_p.A3A|PDGFRA_uc003gzz.3_Silent_p.A3A|PDGFRA_uc003hab.3_5'UTR	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	0					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCATGTCGGCCGGCGAGGTCG	0.672000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			9	11					0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84911470	84911470	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr6:84911470C>T	uc010kbp.3	-	7	800	c.703G>A	c.(703-705)Ggc>Agc	p.G235S	KIAA1009_uc003pkj.4_Missense_Mutation_p.G159S|KIAA1009_uc003pkk.2_Missense_Mutation_p.G235S	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	235					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GCAAGCATGCCAGTTTTTTCT	0.264000													32	29					0	0	1	0	0
ALAD	210	broad.mit.edu	37	9	116153879	116153879	+	Silent	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr9:116153879C>T	uc011lxf.2	-	3	391	c.189G>A	c.(187-189)gaG>gaA	p.E63E	ALAD_uc011lxe.2_Silent_p.E46E|ALAD_uc004bhl.4_Silent_p.E92E	NM_000031	NP_000022	P13716	HEM2_HUMAN	Homo sapiens aminolevulinate dehydratase (ALAD), mRNA.	63					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	GCCTCAGCATCTCTTCCAGCC	0.577000													5	94					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101198018	101198018	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr1:101198018C>G	uc001dti.3	+	6	1791	c.1570C>G	c.(1570-1572)Ctg>Gtg	p.L524V	VCAM1_uc010ouj.2_Missense_Mutation_p.L462V|VCAM1_uc001dtj.3_Missense_Mutation_p.L432V	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	524	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTCCTCCATCCTGGAGGAAGG	0.537000													7	13					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699184	17699184	+	Missense_Mutation	SNP	T	T	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr2:17699184T>G	uc002rcl.1	-	0	523	c.499A>C	c.(499-501)Ata>Cta	p.I167L	RAD51AP2_uc010exn.1_Missense_Mutation_p.I158L	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	167										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATTCCATGTATATCGTGTATA	0.423000													20	80					0	0	1	0	0
PM20D2	135293	broad.mit.edu	37	6	89859124	89859124	+	Silent	SNP	T	T	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr6:89859124T>A	uc003pmz.3	+	1	701	c.606T>A	c.(604-606)gcT>gcA	p.A202A		NM_001010853	NP_001010853	Q8IYS1	P20D2_HUMAN	Homo sapiens peptidase M20 domain containing 2 (PM20D2), mRNA.	202							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		CAGATATGGCTGAACATGAGT	0.373000													4	56					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234368474	234368474	+	Silent	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr2:234368474C>T	uc002vui.1	+	22	2778	c.2766C>T	c.(2764-2766)gtC>gtT	p.V922V	DGKD_uc002vuj.1_Silent_p.V878V|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	922					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGGCCTGGGTCCAGCCGCCAG	0.602000													7	94					0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587343	15587343	+	Silent	SNP	G	G	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr19:15587343G>T	uc002nbg.3	-	1	271	c.138C>A	c.(136-138)acC>acA	p.T46T	PGLYRP2_uc002nbf.4_Silent_p.T46T	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	46			T -> A (in dbSNP:rs3813135).		defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.T46A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CTGTGTGTCTGGTCTTGGCAG	0.587000													15	93					7.07596e-05	7.37327e-05	1	1	0
TTC24	164118	broad.mit.edu	37	1	156552861	156552861	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr1:156552861G>C	uc021pbf.1	+	3	974	c.938G>C	c.(937-939)gGc>gCc	p.G313A		NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN	Homo sapiens tetratricopeptide repeat domain 24 (TTC24), mRNA.	313							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGGAGCAGGGCCGGAGCTTT	0.657000													27	125					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179469564	179469564	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr2:179469564C>G	uc021vsy.1	-	229	46773	c.46548G>C	c.(46546-46548)ttG>ttC	p.L15516F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.L9211F|TTN_uc021vta.1_Missense_Mutation_p.L9144F|TTN_uc021vtb.1_Missense_Mutation_p.L9019F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16443	Fibronectin type-III 13.						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)			CATCCCATGTCAAGTAGCAAG	0.433000													36	161					0	0	1	0	0
CKB	1152	broad.mit.edu	37	14	103988811	103988811	+	Missense_Mutation	SNP	T	T	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr14:103988811T>G	uc001ynf.2	-	1	126	c.20A>C	c.(19-21)cAc>cCc	p.H7P		NM_001823	NP_001814	P12277	KCRB_HUMAN	Homo sapiens creatine kinase, brain (CKB), mRNA.	7					creatine metabolic process	cytosol	ATP binding|creatine kinase activity			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	CAGTGCGTTGTGGCTGTTGGA	0.706000													6	7					0	0	1	0	0
CCNE2	9134	broad.mit.edu	37	8	95906316	95906316	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr8:95906316G>A	uc003yhc.3	-	2	150	c.46C>T	c.(46-48)Ccc>Tcc	p.P16S	CCNE2_uc003yhd.2_Missense_Mutation_p.P16S	NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	16					G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GTCTGGCTGGGCTGGGGCTGC	0.443000													17	53					0	0	1	0	0
TMEM219	124446	broad.mit.edu	37	16	29982731	29982731	+	Silent	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr16:29982731G>A	uc002duw.2	+	4	755	c.588G>A	c.(586-588)gaG>gaA	p.E196E	BOLA2_uc010bzb.1_Intron|TMEM219_uc002duy.2_Silent_p.E196E|TMEM219_uc010bzk.1_Silent_p.E196E|TMEM219_uc010bzl.1_Non-coding_Transcript|TAOK2_uc002dvb.2_5'Flank|TAOK2_uc021tgf.1_5'Flank|TAOK2_uc002dva.2_5'Flank|TAOK2_uc002dvc.2_5'Flank	NM_194280	NP_919256	Q86XT9	TM219_HUMAN	Homo sapiens transmembrane protein 219 (TMEM219), transcript variant 2, mRNA.	196						integral to membrane				large_intestine(1)|lung(1)|prostate(2)	4						CTCCCTAGGAGGAGCTGGCTC	0.582000													4	122					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164767590	164767590	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr3:164767590G>A	uc003fei.3	-	13	1649	c.1586C>T	c.(1585-1587)cCg>cTg	p.P529L		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	529	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.P528L(1)|p.P529P(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AGGAGTAAACGGTGGATAATT	0.279000										HNSCC(35;0.089)			6	81					0	0	1	0	0
HDDC2	51020	broad.mit.edu	37	6	125619919	125619919	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr6:125619919C>T	uc003qaa.1	-	2	454	c.250G>A	c.(250-252)Gtt>Att	p.V84I	HDDC2_uc003qab.1_Intron	NM_016063	NP_057147	Q7Z4H3	HDDC2_HUMAN	Homo sapiens HD domain containing 2 (HDDC2), mRNA.	84	HD.						metal ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		ATGTCCCCAACGATGCATTCT	0.413000													64	71					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25458669	25458669	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr2:25458669G>A	uc002rgc.3	-	21	2761	c.2504C>T	c.(2503-2505)aCg>aTg	p.T835M	DNMT3A_uc002rgd.3_Missense_Mutation_p.T835M|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Missense_Mutation_p.T646M	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	835					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.T835T(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTTGACCTCGTAGTAATGGT	0.438000			"""Mis, F, N, S"""		AML								67	144					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222715413	222715413	+	Silent	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr1:222715413G>A	uc001hnh.1	-	2	1117	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	353					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.F353F(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CGTCCCCAGTGAATATGTACA	0.507000													8	147					0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106717360	106717360	+	Missense_Mutation	SNP	C	C	G	rs138241328		TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr12:106717360C>G	uc001tln.3	+	5	882	c.708C>G	c.(706-708)caC>caG	p.H236Q	TCP11L2_uc001tll.3_Missense_Mutation_p.H236Q|TCP11L2_uc001tlm.3_Missense_Mutation_p.H236Q	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA.	236										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						TCAGACCGCACCTTCAACGCC	0.343000													16	81					0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57889646	57889646	+	Missense_Mutation	SNP	A	A	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr4:57889646A>T	uc003hcl.1	+	18	2709	c.2666A>T	c.(2665-2667)aAg>aTg	p.K889M	POLR2B_uc011cae.1_Missense_Mutation_p.K882M|POLR2B_uc011caf.1_Missense_Mutation_p.K814M|POLR2B_uc003hcm.1_Missense_Mutation_p.K382M	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	889					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					CGCTATACCAAGAGAGACTGT	0.413000													7	70					0	0	1	0	0
C2orf70	339778	broad.mit.edu	37	2	26785532	26785532	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr2:26785532G>T	uc010eyn.3	+	0	52	c.52G>T	c.(52-54)Gtg>Ttg	p.V18L		NM_001105519	NP_001098989	A6NJV1	CB070_HUMAN	Homo sapiens chromosome 2 open reading frame 70 (C2orf70), mRNA.	18										breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						TGCCGCCTACGTGCCCCCTGG	0.701000													4	116					3.59834e-05	3.7813e-05	1	1	0
ZBTB38	253461	broad.mit.edu	37	3	141162716	141162716	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr3:141162716G>A	uc010hup.3	+	1	1536	c.1489G>A	c.(1489-1491)Gta>Ata	p.V497I	ZBTB38_uc003etw.3_Missense_Mutation_p.V496I|ZBTB38_uc010hun.3_Missense_Mutation_p.V493I|ZBTB38_uc010huo.3_Missense_Mutation_p.V496I|ZBTB38_uc003ety.3_Missense_Mutation_p.V496I|ZBTB38_uc021xes.1_Missense_Mutation_p.V496I	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	496					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CTGCAACAAAGTATTTGCATT	0.418000													3	76					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7689597	7689597	+	Silent	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr17:7689597C>T	uc002giu.1	+	38	6299	c.6285C>T	c.(6283-6285)cgC>cgT	p.R2095R		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2095	AAA 2 (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)				CCTCATGGCGCATTCTACAGG	0.582000													5	58					0	0	1	0	0
OR4D6	219983	broad.mit.edu	37	11	59225142	59225142	+	Missense_Mutation	SNP	C	C	T	rs146952088	byFrequency	TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr11:59225142C>T	uc010rku.2	+	0	709	c.709C>T	c.(709-711)Ctc>Ttc	p.L237F		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						GAACAAGGCCCTCTCCACGTG	0.592000													3	120					0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18738381	18738381	+	Silent	SNP	A	A	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr11:18738381A>G	uc009yht.2	-	9	1330	c.1140T>C	c.(1138-1140)gaT>gaC	p.D380D	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	380										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCGTCAGACCATCTTCGGACA	0.522000													85	209					0	0	1	0	0
RAC2	5880	broad.mit.edu	37	22	37627391	37627391	+	Missense_Mutation	SNP	T	T	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr22:37627391T>A	uc003arc.3	-	4	445	c.328A>T	c.(328-330)Atc>Ttc	p.I110F		NM_002872	NP_002863	P15153	RAC2_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) (RAC2), mRNA.	110					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						ACCAGGATGATGGGTGTGCTG	0.632000													69	115					0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31484747	31484747	+	Silent	SNP	G	G	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr22:31484747G>C	uc003ajl.2	+	4	598	c.357G>C	c.(355-357)cgG>cgC	p.R119R	SMTN_uc003ajk.2_Silent_p.R119R|SMTN_uc003ajm.2_Silent_p.R119R|SMTN_uc011ale.2_Silent_p.R173R|SMTN_uc011alf.2_Silent_p.R175R|SMTN_uc003ajn.2_Silent_p.R111R|SMTN_uc011alg.2_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	119					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCCGTGTACGGGCTCAGGAGA	0.632000											OREG0026472	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	56					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642989	1642989	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr11:1642989C>A	uc009ycy.1	-	1	317	c.230G>T	c.(229-231)gGc>gTc	p.G77V	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	172	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.G112V(3)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCACAGGAGCCACAGCCCCC	0.677000													3	15					0.184627	0.186128	1	1	0
CEBPZ	10153	broad.mit.edu	37	2	37430124	37430124	+	Missense_Mutation	SNP	T	T	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr2:37430124T>A	uc002rpz.3	-	13	2942	c.2912A>T	c.(2911-2913)aAt>aTt	p.N971I	LOC100505876_uc002rpy.2_3'UTR|LOC100505876_uc002rpx.2_3'UTR	NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	971					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GCTGGAATCATTTAAGTTTCT	0.264000													52	90					0	0	1	0	0
FATE1	89885	broad.mit.edu	37	X	150889896	150889896	+	Silent	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chrX:150889896G>A	uc004fex.3	+	2	348	c.264G>A	c.(262-264)ctG>ctA	p.L88L		NM_033085	NP_149076	Q969F0	FATE1_HUMAN	Homo sapiens fetal and adult testis expressed 1 (FATE1), mRNA.	88						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGAATGCTGAGAGAATCAG	0.542000													31	174					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43677873	43677873	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr5:43677873G>T	uc003joe.3	+	18	3096	c.2841G>T	c.(2839-2841)ttG>ttT	p.L947F	NNT_uc003jof.3_Missense_Mutation_p.L947F	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	947					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TTGCTGATTTGGTAAAGATGC	0.403000													3	84					0.00909568	0.00932119	1	1	0
A2M	2	broad.mit.edu	37	12	9251341	9251341	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr12:9251341G>C	uc001qvk.1	-	14	1826	c.1713C>G	c.(1711-1713)agC>agG	p.S571R	A2M_uc009zgk.1_Missense_Mutation_p.S421R	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	571					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	ATGGGCTGAAGCTCAAATCCA	0.527000													10	57					0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110234478	110234478	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr12:110234478G>A	uc001tpj.2	-	5	1279	c.1184C>T	c.(1183-1185)aCg>aTg	p.T395M	TRPV4_uc001tpg.2_Missense_Mutation_p.T361M|TRPV4_uc021rdp.1_Intron|TRPV4_uc001tph.2_Missense_Mutation_p.T348M|TRPV4_uc001tpi.2_Intron|TRPV4_uc001tpk.2_Missense_Mutation_p.T395M	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	395					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GTCCTCATCCGTCACCTCCCG	0.627000													15	80					0	0	1	0	0
CLINT1	9685	broad.mit.edu	37	5	157285975	157285975	+	Missense_Mutation	SNP	A	A	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr5:157285975A>T	uc003lxj.2	-	0	209	c.4T>A	c.(4-6)Ttg>Atg	p.L2M	CLINT1_uc003lxi.2_5'UTR|CLINT1_uc011ddv.2_Missense_Mutation_p.L2M	NM_014666	NP_055481	Q14677	EPN4_HUMAN	Homo sapiens clathrin interactor 1 (CLINT1), transcript variant 2, mRNA.	2					endocytosis|post-Golgi vesicle-mediated transport	Golgi apparatus|clathrin-coated vesicle|cytosol|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACATGTTCAACATCGTGCCC	0.701000													3	45					0	0	1	0	0
SNX10	29887	broad.mit.edu	37	7	26404687	26404687	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr7:26404687C>G	uc011jzg.2	+	5	569	c.302C>G	c.(301-303)tCt>tGt	p.S101C	SNX10_uc003sxx.3_Missense_Mutation_p.S78C|SNX10_uc010kuu.3_Missense_Mutation_p.S78C|SNX10_uc010kuv.3_Missense_Mutation_p.S75C|SNX10_uc010kuw.3_5'UTR	NM_001199838	NP_001186767	Q9Y5X0	SNX10_HUMAN	Homo sapiens sorting nexin 10 (SNX10), transcript variant 4, mRNA.	78	PX.				cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						GAACTTCCATCTAAAAACCTG	0.408000											OREG0017908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	78					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31609394	31609394	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr7:31609394G>T	uc011kae.2	+	4	369	c.357G>T	c.(355-357)atG>atT	p.M119I	CCDC129_uc011kad.1_Missense_Mutation_p.M103I|CCDC129_uc003tcj.1_Missense_Mutation_p.M93I|CCDC129_uc003tci.1_Missense_Mutation_p.M92I|CCDC129_uc003tck.1_Missense_Mutation_p.M1I	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	93										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AACAAGGGATGGTTCAAATGA	0.373000													18	88					1.10513e-12	1.22354e-12	1	1	0
EP400	57634	broad.mit.edu	37	12	132522575	132522575	+	Silent	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr12:132522575G>A	uc001ujn.3	+	31	6293	c.6141G>A	c.(6139-6141)gtG>gtA	p.V2047V	EP400_uc021rgq.1_Silent_p.V2046V|EP400_uc001ujm.3_Silent_p.V1966V	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2083	Helicase C-terminal.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGGAGTTTGTGGTGCTTTCTC	0.458000													7	295					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237993878	237993878	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr1:237993878C>T	uc001hyl.1	+	102	14824	c.14704C>T	c.(14704-14706)Cca>Tca	p.P4902S	RYR2_uc010pyb.1_Intron	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4902			P -> L (in CPVT1).		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGACACAGTGCCACATGGCTT	0.433000													56	109					0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95174021	95174021	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr4:95174021G>A	uc003htb.4	+	8	1321	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	SMARCAD1_uc003htc.4_Missense_Mutation_p.E382K|SMARCAD1_uc003htd.4_Missense_Mutation_p.E382K|SMARCAD1_uc010ila.3_Missense_Mutation_p.E245K|SMARCAD1_uc011cdw.2_5'Flank	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	382					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AGAAGTGATGGAGGATGGCTA	0.378000													3	36					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61322975	61322975	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr18:61322975G>C	uc002lji.3	-	7	1233	c.1089C>G	c.(1087-1089)ttC>ttG	p.F363L	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.F311L	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	363					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GATTACAATGGAACTCTTCAT	0.458000													61	92					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328626	48328626	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr11:48328626C>G	uc010rhu.2	+	0	852	c.852C>G	c.(850-852)atC>atG	p.I284M		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						ACCCTTTGATCTATACACTAA	0.458000													6	135					0	0	1	0	0
PARP10	84875	broad.mit.edu	37	8	145059064	145059064	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr8:145059064C>G	uc003zal.4	-	4	1214	c.1106G>C	c.(1105-1107)gGg>gCg	p.G369A	PARP10_uc003zak.4_Missense_Mutation_p.G75A|PARP10_uc011lku.2_Missense_Mutation_p.G381A|PARP10_uc011lkv.2_Non-coding_Transcript|PARP10_uc003zam.2_Missense_Mutation_p.G369A|PARP10_uc010mfn.1_Missense_Mutation_p.G284A|PARP10_uc010mfo.1_3'UTR	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 10 (PARP10), mRNA.	369						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTCCTGCAACCCCACAGGCCT	0.647000													18	69					0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35512474	35512474	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr19:35512474C>T	uc010xsf.1	+	13	1559	c.1559C>T	c.(1558-1560)tCg>tTg	p.S520L	GRAMD1A_uc010xse.1_Missense_Mutation_p.S515L|GRAMD1A_uc002nxk.2_Missense_Mutation_p.S508L|GRAMD1A_uc002nxl.2_Missense_Mutation_p.S281L|GRAMD1A_uc002nxn.1_Missense_Mutation_p.S130L	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	515						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAGAAGAACTCGTGGAGCGGC	0.582000													17	53					0	0	1	0	0
SHMT2	6472	broad.mit.edu	37	12	57625677	57625677	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr12:57625677G>C	uc001snf.2	+	3	699	c.493G>C	c.(493-495)Gac>Cac	p.D165H	SHMT2_uc001snh.2_Missense_Mutation_p.D167H|SHMT2_uc009zpk.2_Missense_Mutation_p.D165H|SHMT2_uc001sng.2_Missense_Mutation_p.W59C|SHMT2_uc001sni.2_Missense_Mutation_p.D144H|SHMT2_uc010srg.2_Missense_Mutation_p.D174H|SHMT2_uc010srh.2_Missense_Mutation_p.D144H|SHMT2_uc001snj.2_Missense_Mutation_p.W59C|SHMT2_uc010sri.2_Missense_Mutation_p.D144H|SHMT2_uc001snk.2_Missense_Mutation_p.W59C|SHMT2_uc010srj.2_5'Flank	NM_005412	NP_001159831	P34897	GLYM_HUMAN	Homo sapiens serine hydroxymethyltransferase 2 (mitochondrial) (SHMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	165						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CATGGGGCTGGACCTGCCCGA	0.587000													14	51					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31763220	31763220	+	Missense_Mutation	SNP	A	A	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr14:31763220A>G	uc001wrf.4	-	34	5895	c.5710T>C	c.(5710-5712)Tgt>Cgt	p.C1904R	HEATR5A_uc010ami.3_Missense_Mutation_p.C1434R	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	1898							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCCATGATACAGGATGCTAAA	0.398000													5	76					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240072456	240072456	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr1:240072456C>T	uc021plc.1	+	0	1705	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C	CHRM3_uc001hyp.3_Missense_Mutation_p.R569C	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	569					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.R568fs*>24(1)|p.R569H(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AAAAAAGAGGCGCAAGCAGCA	0.498000													15	162					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16955917	16955917	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr10:16955917G>A	uc001ioo.3	-	47	7478	c.7426C>T	c.(7426-7428)Cgg>Tgg	p.R2476W		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2476	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCGCAGATCCGGCCATGAGGA	0.532000													11	22					0	0	1	0	0
FAM222A	84915	broad.mit.edu	37	12	110207030	110207030	+	Silent	SNP	G	G	A	rs138993259		TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr12:110207030G>A	uc001tpd.2	+	2	1858	c.1296G>A	c.(1294-1296)acG>acA	p.T432T	FAM222A-AS1_uc010sxs.2_Intron|FAM222A-AS1_uc001tpe.3_Intron	NM_032829	NP_116218	Q5U5X8	CL034_HUMAN	Homo sapiens chromosome 12 open reading frame 34 (C12orf34), mRNA.	432																	GCTATGAGACGGTGGCCGTGC	0.627000													12	129					0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55110902	55110902	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr5:55110902G>A	uc003jqg.4	+	19	1988	c.1889G>A	c.(1888-1890)cGt>cAt	p.R630H	DDX4_uc010ivz.3_Missense_Mutation_p.R610H|DDX4_uc003jqh.4_Missense_Mutation_p.R596H|DDX4_uc003jqj.3_Missense_Mutation_p.R481H	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	630	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				CGAATTGGGCGTACTGGTCGT	0.393000													12	199					0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31582629	31582629	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr14:31582629C>T	uc001wrc.1	-	32	6407	c.5918G>A	c.(5917-5919)aGt>aAt	p.S1973N	HECTD1_uc001wra.1_Missense_Mutation_p.S99N|HECTD1_uc001wrb.1_Missense_Mutation_p.S99N|HECTD1_uc001wrd.1_Missense_Mutation_p.S1441N	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	1973					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AATATCACTACTTTGAAGAGT	0.388000													7	29					0	0	1	0	0
PREPL	9581	broad.mit.edu	37	2	44566451	44566451	+	Silent	SNP	A	A	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr2:44566451A>G	uc002ruf.3	-	5	1763	c.804T>C	c.(802-804)aaT>aaC	p.N268N	PREPL_uc002rug.3_Silent_p.N268N|PREPL_uc002ruh.3_Silent_p.N268N|PREPL_uc010fax.3_Silent_p.N268N|PREPL_uc002rui.4_Silent_p.N179N|PREPL_uc002ruj.2_Silent_p.N179N|PREPL_uc002ruk.2_Silent_p.N268N	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	268					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGTTCATAATATTTATGGTGA	0.413000													11	106					0	0	1	0	0
SEPT6	23157	broad.mit.edu	37	X	118797595	118797595	+	Missense_Mutation	SNP	T	T	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chrX:118797595T>A	uc004erv.3	-	2	456	c.191A>T	c.(190-192)aAc>aTc	p.N64I	SEPT6_uc010nqk.3_Non-coding_Transcript|SEPT6_uc004ers.3_Missense_Mutation_p.N64I|SEPT6_uc004ert.3_Missense_Mutation_p.N64I|SEPT6_uc004eru.3_Missense_Mutation_p.N64I|SEPT6_uc004erw.3_Missense_Mutation_p.N6I|SEPT6_uc011mtv.1_Missense_Mutation_p.N6I|SEPT6_uc011mtw.1_Missense_Mutation_p.N94I	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	Homo sapiens septin 6 (SEPT6), transcript variant II, mRNA.	64					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GAATTTGGTGTTGAACAGGGT	0.502000			T	MLL	AML								8	64					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65960510	65960510	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr17:65960510G>T	uc002jgf.3	+	24	8505	c.8444G>T	c.(8443-8445)cGt>cTt	p.R2815L	BPTF_uc002jge.3_Missense_Mutation_p.R2798L|BPTF_uc021uca.1_Missense_Mutation_p.R615L|BPTF_uc002jgg.3_Missense_Mutation_p.R530L|BPTF_uc002jgh.3_Missense_Mutation_p.R332L	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	2941	Pro-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGGGTGCTCCGTTCCTTACAG	0.458000													12	107					9.05144e-12	9.84543e-12	1	1	0
MYH8	4626	broad.mit.edu	37	17	10300168	10300168	+	Silent	SNP	A	A	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr17:10300168A>T	uc002gmm.2	-	30	4409	c.4314T>A	c.(4312-4314)tcT>tcA	p.S1438S	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1438					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGGCTGCATTAGACCTTTCCA	0.463000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				13	166					0	0	1	0	0
OR2L3	391192	broad.mit.edu	37	1	248224862	248224862	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr1:248224862C>A	uc001idx.1	+	0	879	c.879C>A	c.(877-879)aaC>aaA	p.N293K	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCCTGAGGAACAAGGAGGTGA	0.498000													4	148					0.184627	0.186128	1	1	0
AADACL2	344752	broad.mit.edu	37	3	151475280	151475280	+	Silent	SNP	T	T	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr3:151475280T>C	uc003ezc.3	+	4	1224	c.1104T>C	c.(1102-1104)gaT>gaC	p.D368D	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Silent_p.D155D	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	368						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATATTGAGGATGGAATTCATG	0.338000													12	136					0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74875111	74875111	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr11:74875111G>T	uc001owb.3	+	2	646	c.251G>T	c.(250-252)aGc>aTc	p.S84I	SLCO2B1_uc010rrp.1_Non-coding_Transcript|SLCO2B1_uc010rrq.2_Intron|SLCO2B1_uc010rrr.2_Intron|SLCO2B1_uc010rrs.2_Intron|SLCO2B1_uc001owc.3_Intron|SLCO2B1_uc001owd.3_Missense_Mutation_p.S62I	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	84					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	GGCCTCTCCAGCCAGACGTCG	0.637000													6	70					0.000274275	0.000283418	1	1	0
MST1P9	11223	broad.mit.edu	37	1	17084973	17084973	+	Missense_Mutation	SNP	C	C	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr1:17084973C>G	uc010ock.2	-	10	1502	c.1502G>C	c.(1501-1503)aGc>aCc	p.S501T	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.S75T					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						ATTCCGCAAGCTGACTGTCCA	0.602000													10	299					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39439409	39439409	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr4:39439409G>C	uc003gua.3	+	2	1496	c.1399G>C	c.(1399-1401)Gaa>Caa	p.E467Q	KLB_uc011byj.2_Missense_Mutation_p.E467Q	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	467	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GGATGGCTTTGAATGGCAGGA	0.428000													13	76					0	0	1	0	0
TRIM8	81603	broad.mit.edu	37	10	104404529	104404529	+	Missense_Mutation	SNP	G	G	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr10:104404529G>C	uc001kvz.2	+	0	278	c.155G>C	c.(154-156)tGc>tCc	p.C52S		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	Homo sapiens tripartite motif containing 8 (TRIM8), mRNA.	52						PML body|cytoplasm	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTCGTACGCTGCCCAGAGTGC	0.612000													10	74					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101578919	101578919	+	Missense_Mutation	SNP	C	C	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr10:101578919C>A	uc001kqf.2	+	18	2652	c.2513C>A	c.(2512-2514)aCa>aAa	p.T838K		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	838	ABC transporter 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGGAATGGAACAATTGTAGAG	0.403000													14	64					1.00905e-13	1.13747e-13	1	1	0
TBP	6908	broad.mit.edu	37	6	170871076	170871076	+	Silent	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr6:170871076G>A	uc003qxu.3	+	2	531	c.252G>A	c.(250-252)caG>caA	p.Q84Q	TBP_uc011ehf.2_Silent_p.Q64Q|TBP_uc003qxt.3_Silent_p.Q84Q|TBP_uc011ehg.1_Silent_p.Q84Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	84	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q84Q(4)|p.Q83Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.602000													18	25					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149247732	149247732	+	Missense_Mutation	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr2:149247732G>A	uc002twm.4	+	11	4829	c.3832G>A	c.(3832-3834)Gag>Aag	p.E1278K	MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Missense_Mutation_p.E536K|MBD5_uc002twp.3_Missense_Mutation_p.E328K	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1278						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GAGTTTTAAGGAGAGACTAGA	0.413000													5	45					0	0	1	0	0
RCBTB1	55213	broad.mit.edu	37	13	50134123	50134123	+	Silent	SNP	G	G	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr13:50134123G>C	uc001vde.1	-	4	636	c.375C>G	c.(373-375)ctC>ctG	p.L125L		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 (RCBTB1), mRNA.	125					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.L125F(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GCTTGATCAAGAGATTGGTAC	0.483000													33	123					0	0	1	0	0
AHCY	191	broad.mit.edu	37	20	32873337	32873337	+	Missense_Mutation	SNP	C	C	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr20:32873337C>T	uc002xai.3	-	8	1215	c.1076G>A	c.(1075-1077)aGt>aAt	p.S359N	AHCY_uc002xaj.3_Missense_Mutation_p.S331N	NM_000687	NP_001155238	P23526	SAHH_HUMAN	Homo sapiens adenosylhomocysteinase (AHCY), transcript variant 1, mRNA.	359					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GAAGGAGTTACTCATCACGAA	0.587000													21	88					0	0	1	0	0
SRSF6	6431	broad.mit.edu	37	20	42089596	42089596	+	Missense_Mutation	SNP	T	T	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr20:42089596T>G	uc010zwg.2	+	5	1098	c.928T>G	c.(928-930)Tca>Gca	p.S310A	SRSF6_uc002xki.3_Missense_Mutation_p.S181A	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	Homo sapiens serine/arginine-rich splicing factor 6 (SRSF6), transcript variant 1, mRNA.	310	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						TGTTCCACCCTCAAAGGCCCG	0.502000													12	70					0	0	1	0	0
PHF19	26147	broad.mit.edu	37	9	123620475	123620475	+	Missense_Mutation	SNP	C	C	T	rs144405933		TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr9:123620475C>T	uc004bks.1	-	14	1743	c.1490G>A	c.(1489-1491)cGc>cAc	p.R497H	PHF19_uc011lyf.1_Missense_Mutation_p.R288H|PHF19_uc004bkr.2_Non-coding_Transcript	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN	Homo sapiens PHD finger protein 19 (PHF19), transcript variant 1, mRNA.	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGAGGGGCAGCGTCCATCCAG	0.597000													19	19					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117267708	117267708	+	Missense_Mutation	SNP	G	G	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr7:117267708G>T	uc003vjd.3	+	21	3733	c.3601G>T	c.(3601-3603)Gat>Tat	p.D1201Y	CFTR_uc011knq.2_Missense_Mutation_p.D607Y	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1201					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding	p.D1201E(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CGTGAAGAAAGATGACATCTG	0.413000									Cystic Fibrosis				20	62					1.10513e-12	1.22354e-12	1	1	0
SLCO6A1	133482	broad.mit.edu	37	5	101811427	101811427	+	Silent	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr5:101811427G>A	uc003knn.3	-	3	1045	c.873C>T	c.(871-873)gtC>gtT	p.V291V	SLCO6A1_uc003kno.3_Silent_p.V229V|SLCO6A1_uc003knp.3_Silent_p.V291V|SLCO6A1_uc003knq.3_Silent_p.V229V	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	291						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TATTCTCAGGGACTTTAACTA	0.333000													3	57					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181215	19181215	+	Missense_Mutation	SNP	G	G	A	rs79635934	by1000genomes	TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr1:19181215G>A	uc001bba.1	-	2	750	c.749C>T	c.(748-750)aCg>aTg	p.T250M		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	250					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.T250T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CTCCTCTGACGTCATGTTCTG	0.657000													7	33					0	0	1	0	0
SOLH	6650	broad.mit.edu	37	16	598994	598994	+	Splice_Site	SNP	A	A	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr16:598994A>G	uc002chi.3	+	5	1813	c.1450_splice	c.e5-1	p.N484_splice		NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	484					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				TCTCTGCAGAACAATGTGAGC	0.662000													3	38					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64519117	64519117	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr14:64519117T>G	uc001xgl.3	+	47	8716	c.8486T>G	c.(8485-8487)tTa>tGa	p.L2829*	SYNE2_uc001xgm.3_Nonsense_Mutation_p.L2829*|SYNE2_uc021ruh.1_Nonsense_Mutation_p.L2862*	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2829					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCACAGCAATTAGAATTTAAG	0.343000													4	28					0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95522788	95522788	+	RNA	SNP	T	T	C			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr2:95522788T>C	uc010fhp.3	-	0		c.33A>G						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						GCGTCGCCTTTGACAGCTGCC	0.682000													21	90					0	0	1	0	0
LOC728989	728989	broad.mit.edu	37	1	146494538	146494538	+	Missense_Mutation	SNP	G	G	A	rs141949470	by1000genomes	TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr1:146494538G>A	uc001epd.2	-	3	535	c.461C>T	c.(460-462)gCg>gTg	p.A154V						Homo sapiens phosphodiesterase 4D interacting protein pseudogene (LOC728989), non-coding RNA.																		TGGCAGGGCCGCTCTCCAGAA	0.572000													7	97					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55561724	55561724	+	Missense_Mutation	SNP	T	T	G			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr2:55561724T>G	uc002ryv.2	-	14	3075	c.2233A>C	c.(2233-2235)Aaa>Caa	p.K745Q	CCDC88A_uc010ypa.1_Missense_Mutation_p.K745Q|CCDC88A_uc010yoz.1_Missense_Mutation_p.K745Q|CCDC88A_uc010ypb.1_Missense_Mutation_p.K647Q|CCDC88A_uc002ryu.2_Missense_Mutation_p.K28Q|CCDC88A_uc002ryw.3_Missense_Mutation_p.K28Q	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	745					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AAAGATGCTTTCAGGAGCTCC	0.363000													10	52					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871082	170871082	+	Silent	SNP	G	G	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr6:170871082G>A	uc003qxu.3	+	2	537	c.258G>A	c.(256-258)caG>caA	p.Q86Q	TBP_uc011ehf.2_Silent_p.Q66Q|TBP_uc003qxt.3_Silent_p.Q86Q|TBP_uc011ehg.1_Silent_p.Q86Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	86	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q86Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.612000													20	26					0	0	1	0	0
PREPL	9581	broad.mit.edu	37	2	44566372	44566372	+	Nonsense_Mutation	SNP	G	G	A	rs145356495		TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr2:44566372G>A	uc002ruf.3	-	5	1842	c.883C>T	c.(883-885)Cga>Tga	p.R295*	PREPL_uc002rug.3_Nonsense_Mutation_p.R295*|PREPL_uc002ruh.3_Nonsense_Mutation_p.R295*|PREPL_uc010fax.3_Nonsense_Mutation_p.R295*|PREPL_uc002rui.4_Nonsense_Mutation_p.R206*|PREPL_uc002ruj.2_Nonsense_Mutation_p.R206*|PREPL_uc002ruk.2_Nonsense_Mutation_p.R295*	NM_006036	NP_006027	Q4J6C6	PPCEL_HUMAN	Homo sapiens prolyl endopeptidase-like (PREPL), transcript variant 1, mRNA.	295					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCATGTATTCGCTTCTGGATA	0.413000													12	137					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180050943	180050943	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr5:180050943T>A	uc003mlz.4	-	10	1619	c.1540A>T	c.(1540-1542)Aag>Tag	p.K514*	FLT4_uc003mma.4_Nonsense_Mutation_p.K514*|FLT4_uc003mmb.1_Nonsense_Mutation_p.K47*|FLT4_uc011dgy.2_Nonsense_Mutation_p.K514*	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	514	Ig-like C2-type 5.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACCTTATTCTTTCCCTCCACA	0.602000													14	133					0	0	1	0	0
CLCC1	23155	broad.mit.edu	37	1	109477463	109477464	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr1:109477463_109477464insT	uc021ora.1	-	9	1495_1496	c.1484_1485insA	c.(1483-1485)aagfs	p.K495fs	AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Frame_Shift_Ins_p.K445fs|CLCC1_uc001dwf.1_Frame_Shift_Ins_p.K495fs|CLCC1_uc009wes.1_Frame_Shift_Ins_p.K374fs|CLCC1_uc009wet.1_Frame_Shift_Ins_p.K310fs	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA.	495						Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CAGAGACAGGCTTGGCCGACTG	0.550													11	199	---	---	---	---					
DPYS	1807	broad.mit.edu	37	8	105478888	105478888	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr8:105478888delG	uc003yly.4	-	0	390	c.261delC	c.(259-261)accfs	p.T87fs		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	87					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			cgggTACCTTGGTGCCCTGGT	0.736													2	4	---	---	---	---					
KRTAP5-10	387273	broad.mit.edu	37	11	71276657	71276658	+	In_Frame_Ins	INS	-	-	GGCTGTGGCTCCGGCTGTGGG	rs71049990		TCGA-IA-A40Y-01A-11D-A25F-10	TCGA-IA-A40Y-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad9455e9-7147-489e-9b1f-3540c457c260	aab4115c-fdfe-45ae-9a51-91ee50250623	g.chr11:71276657_71276658insGGCTGTGGCTCCGGCTGTGGG	uc001oqt.1	+	0	49_50	c.24_25insGGCTGTGGCTCCGGCTGTGGG	c.(22-27)insGGCTGTGGCTCCGGCTGTGGG	p.29_30insGCGSGCG		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	29						keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTGCTCCGGAGGCTGTGGCTC	0.668													12	60	---	---	---	---					
