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
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr12:132547087G>A	uc001ujn.3	+	46	8327	c.8175G>A	c.(8173-8175)caG>caA	p.Q2725Q	EP400_uc021rgq.1_Silent_p.Q2724Q|EP400_uc001ujm.3_Silent_p.Q2644Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2761	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(32)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													3	23					0	0	0.004672	0	0
PPIG	9360	broad.mit.edu	37	2	170460747	170460747	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr2:170460747G>A	uc002uez.3	+	3	332	c.112G>A	c.(112-114)Gag>Aag	p.E38K	PPIG_uc010fpx.3_Missense_Mutation_p.E38K|PPIG_uc010fpy.3_Intron|PPIG_uc002ufa.3_Missense_Mutation_p.E38K|PPIG_uc002ufb.3_Missense_Mutation_p.E38K|PPIG_uc002ufc.1_Missense_Mutation_p.E38K|PPIG_uc002ufd.3_Missense_Mutation_p.E38K	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	38	PPIase cyclophilin-type.				RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CAAAACATGCGAGAACTTTCG	0.343000													28	94					0	0	0.050027	0	0
NMD3	51068	broad.mit.edu	37	3	160952983	160952983	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:160952983G>A	uc003feb.1	+	6	679	c.560G>A	c.(559-561)cGt>cAt	p.R187H	NMD3_uc003fec.3_Missense_Mutation_p.R187H|NMD3_uc003fed.1_Missense_Mutation_p.R187H|NMD3_uc010hwh.3_Missense_Mutation_p.R7H	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Homo sapiens NMD3 homolog (S. cerevisiae) (NMD3), mRNA.	187					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			AATACACTTCGTATCAAAGAG	0.249000													26	29					0	0	0.108266	0	0
ALDH3B2	222	broad.mit.edu	37	11	67433865	67433865	+	Silent	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr11:67433865G>A	uc001omr.3	-	4	598	c.159C>T	c.(157-159)tgC>tgT	p.C53C	ALDH3B2_uc001oms.3_Silent_p.C53C|ALDH3B2_uc009ysa.1_Silent_p.C53C	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	53					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	TCAGCACCACGCAACTCCCTG	0.672000													3	8					0	0	0.004672	0	0
DPY19L2	283417	broad.mit.edu	37	12	64020270	64020270	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr12:64020270G>C	uc001srp.1	-	6	1021	c.840C>G	c.(838-840)tgC>tgG	p.C280W	DPY19L2_uc009zqk.1_Non-coding_Transcript	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	280					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TGAAAAAGAAGCACAGTACTG	0.313000													10	17					0	0	0.058154	0	0
PIEZO2	63895	broad.mit.edu	37	18	10677809	10677809	+	Silent	SNP	A	A	G			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr18:10677809A>G	uc002kos.2	-	48	7851	c.7677T>C	c.(7675-7677)aaT>aaC	p.N2559N	PIEZO2_uc002koq.3_Silent_p.N351N	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2559						integral to membrane	ion channel activity										TTCGAGTAATATTTTTAAGAG	0.323000													5	53					0	0	0.014758	0	0
DBC1	1620	broad.mit.edu	37	9	122075489	122075489	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr9:122075489G>A	uc004bkc.2	-	1	601	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	DBC1_uc004bkd.2_Missense_Mutation_p.H49Y	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	49					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CTGGAGTGGTGGAAAGGCCCC	0.502000													7	46					0	0	0.029380	0	0
SVIL	6840	broad.mit.edu	37	10	29820187	29820187	+	Silent	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr10:29820187G>A	uc001iut.1	-	9	2793	c.2040C>T	c.(2038-2040)gtC>gtT	p.V680V	SVIL_uc001iuu.1_Silent_p.V286V	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	680					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACTTGCCATCGACAGTTGGCG	0.358000													12	37					0	0	0.105934	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090710	91090710	+	Silent	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:91090710C>T	uc004efk.2	+	0	1052	c.207C>T	c.(205-207)acC>acT	p.T69T	PCDH11X_uc004efl.2_Silent_p.T69T|PCDH11X_uc010nmv.2_Silent_p.T69T|PCDH11X_uc004efm.2_Silent_p.T69T|PCDH11X_uc004efn.2_Silent_p.T69T|PCDH11X_uc004efo.2_Silent_p.T69T|PCDH11X_uc004efh.2_Silent_p.T69T|PCDH11X_uc004efj.1_Silent_p.T69T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	69	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGTACAAGACCGGAGATGTGC	0.458000													27	134					0	0	0.108266	0	0
LRRC8B	23507	broad.mit.edu	37	1	90048483	90048483	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr1:90048483C>T	uc001dni.3	+	6	781	c.274C>T	c.(274-276)Cga>Tga	p.R92*	LRRC8B_uc001dnh.3_Nonsense_Mutation_p.R92*|LRRC8B_uc001dnj.3_Nonsense_Mutation_p.R92*	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	92						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GCTCCCCCTCCGAATTCAGAA	0.498000													53	9					0	0	0.048971	0	0
CIC	23152	broad.mit.edu	37	19	42791721	42791721	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:42791721C>T	uc002otf.1	+	4	647	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R202W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CATCCGGCGGCCCATGAATGC	0.627000			"""Mis, F, S"""		oligodendroglioma								12	24					0	0	0.093190	0	0
NUDT10	170685	broad.mit.edu	37	X	51075880	51075880	+	Silent	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:51075880G>A	uc004dph.3	+	1	283	c.63G>A	c.(61-63)gcG>gcA	p.A21A	NUDT10_uc004dpi.4_Silent_p.A21A	NM_153183	NP_694853	Q8NFP7	NUD10_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 10 (NUDT10), mRNA.	21	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					AGCGGGCGGCGTGCCTGTGCT	0.672000													12	9					0	0	0.093190	0	0
TTC14	151613	broad.mit.edu	37	3	180327531	180327531	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:180327531A>G	uc003fkk.3	+	11	1646	c.1514A>G	c.(1513-1515)cAt>cGt	p.H505R	TTC14_uc003fkl.3_3'UTR|TTC14_uc003fkm.2_Missense_Mutation_p.H505R	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.	505	Ser-rich.						RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CATAAGAAACATAAGAGGAAC	0.413000													17	54					0	0	0.033300	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64721755	64721755	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:64721755C>T	uc010nko.3	+	4	1244	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	382							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGATGAGCTCCGCATCAGTGC	0.522000													7	15					0	0	0.029380	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412252	139412252	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr9:139412252C>T	uc004chz.3	-	7	1393	c.1393G>A	c.(1393-1395)Gcc>Acc	p.A465T		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	465	EGF-like 12; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGCAGGTGGCGTCGTTCTGG	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			6	51					0	0	0.021553	0	0
NOTCH1	4851	broad.mit.edu	37	9	139399401	139399401	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr9:139399401G>T	uc004chz.3	-	25	4742	c.4742C>A	c.(4741-4743)cCg>cAg	p.P1581Q	NOTCH1_uc004cia.1_Missense_Mutation_p.P811Q	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1581					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.M1581del(2)|p.M1581_P1582del(1)|p.M1581_P1582insRP(1)|p.M1581_P1582insPRYEL(1)|p.M1581_P1582insLMHLAF(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGCTCCGGCGGCATCAGCAC	0.682000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			2	3					0.0016	0.00162222	0.004672	1	0
HEATR7B2	133558	broad.mit.edu	37	5	41004891	41004891	+	Silent	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr5:41004891G>A	uc003jmj.4	-	35	4486	c.3996C>T	c.(3994-3996)tcC>tcT	p.S1332S	HEATR7B2_uc003jmi.4_Silent_p.S887S	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1332							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GAGGAGCCCCGGATGCTGTGT	0.478000													8	53					0	0	0.047766	0	0
SLC6A3	6531	broad.mit.edu	37	5	1409936	1409936	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr5:1409936C>T	uc003jck.3	-	9	1424	c.1298G>A	c.(1297-1299)gGg>gAg	p.G433E		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	433					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		p.G433R(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	ATCGATGAGCCCGGTGATCAC	0.612000													18	37					0	0	0.033300	0	0
SLC11A1	6556	broad.mit.edu	37	2	219258872	219258872	+	Silent	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr2:219258872G>A	uc002vhv.3	+	12	1684	c.1344G>A	c.(1342-1344)acG>acA	p.T448T	SLC11A1_uc010zkc.1_Silent_p.T381T|SLC11A1_uc002vhu.1_Silent_p.T243T|SLC11A1_uc002vhw.3_Silent_p.T330T|SLC11A1_uc010fvr.3_Silent_p.T243T	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	448					L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCATCCTCACGTTCACCAGCA	0.582000													8	45					0	0	0.069234	0	0
CCDC13	152206	broad.mit.edu	37	3	42754752	42754752	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:42754752C>T	uc003cly.4	-	13	1859	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	592										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GGTGCGGTGTCGCTCCTCCTG	0.602000													23	97					0	0	0.030593	0	0
GPR112	139378	broad.mit.edu	37	X	135405538	135405538	+	Silent	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:135405538G>A	uc004ezu.1	+	4	963	c.672G>A	c.(670-672)agG>agA	p.R224R	GPR112_uc010nsb.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	224					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R224M(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTGTTGACAGGACACTGCGCT	0.433000													12	131					0	0	0.105934	0	0
PLIN4	729359	broad.mit.edu	37	19	4511137	4511137	+	Silent	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:4511137G>A	uc002mar.1	-	2	2793	c.2793C>T	c.(2791-2793)acC>acT	p.T931T	PLIN4_uc010dub.1_5'UTR	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	931	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTGTCTGGACGGTCCCTTTGG	0.597000													12	52					0	0	0.093190	0	0
TTC8	123016	broad.mit.edu	37	14	89338726	89338726	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr14:89338726A>G	uc010ath.3	+	12	1459	c.1325A>G	c.(1324-1326)aAc>aGc	p.N442S	TTC8_uc001xxi.3_Missense_Mutation_p.N426S|TTC8_uc001xxj.3_Missense_Mutation_p.N416S|TTC8_uc001xxk.3_Missense_Mutation_p.N386S|TTC8_uc001xxl.3_Missense_Mutation_p.N187S|TTC8_uc010ati.3_Missense_Mutation_p.N228S|TTC8_uc010atj.3_Missense_Mutation_p.N161S	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.	452					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	p.M442I(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCTCTGGTCAACAACAACAAC	0.537000													3	89					0	0	0.004672	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	169649	169649	+	Missense_Mutation	SNP	G	G	A	rs139086978		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr5:169649G>A	uc003jak.2	+	11	2653	c.2603G>A	c.(2602-2604)cGg>cAg	p.R868Q		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	868	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.R868Q(1)|p.R59Q(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CACTTCCTCCGGGAGCTGGAG	0.622000													30	50					0	0	0.041601	0	0
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr11:115080343G>T	uc001ppi.4	-	7	1158	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_uc001ppf.4_Intron|CADM1_uc001ppk.4_Intron|CADM1_uc001ppj.4_Intron|CADM1_uc001pph.4_Silent_p.T95T	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.	343				PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	p.T343T(10)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433000													4	36					0.00024832	0.000255315	0.009096	1	0
DLX4	1748	broad.mit.edu	37	17	48051291	48051291	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr17:48051291C>T	uc002ipv.3	+	2	978	c.707C>T	c.(706-708)tCg>tTg	p.S236L	DLX4_uc002ipw.3_Missense_Mutation_p.S164L|DLX4_uc021tzu.1_3'UTR	NM_138281	NP_612138	Q92988	DLX4_HUMAN	Homo sapiens distal-less homeobox 4 (DLX4), transcript variant 1, mRNA.	236					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S236L(2)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						GTCCTGGCTTCGCCTCAGATG	0.617000													20	22					0	0	0.055883	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr21:14414855A>G	uc002yiy.3	+	1		c.292A>G			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		GCCAATGGCCATGCAGAAGTA	0.448000													4	32					0	0	0.021553	0	0
KIFC2	90990	broad.mit.edu	37	8	145694030	145694030	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr8:145694030G>A	uc003zcz.3	+	8	1065	c.1000G>A	c.(1000-1002)Gca>Aca	p.A334T	CYHR1_uc003zcy.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	Homo sapiens kinesin family member C2 (KIFC2), mRNA.	334					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TGGGCAGCTGGCAGGTAAGGG	0.652000													9	29					0	0	0.047766	0	0
KIAA1217	56243	broad.mit.edu	37	10	24669943	24669943	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr10:24669943G>A	uc001iru.4	+	2	903	c.500G>A	c.(499-501)cGt>cAt	p.R167H	KIAA1217_uc001irs.3_Missense_Mutation_p.R87H|KIAA1217_uc001irt.4_Missense_Mutation_p.R167H|KIAA1217_uc010qcy.2_Missense_Mutation_p.R167H|KIAA1217_uc010qcz.2_Missense_Mutation_p.R167H|KIAA1217_uc001irv.1_Missense_Mutation_p.R17H|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	167					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGCCGGACTCGTGCGAGCCTT	0.532000													10	31					0	0	0.058154	0	0
APOB	338	broad.mit.edu	37	2	21230714	21230714	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr2:21230714A>T	uc002red.3	-	25	9154	c.9026T>A	c.(9025-9027)cTg>cAg	p.L3009Q		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3009					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.F3010fs*15(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCTCCAAACAGTGCCATGCC	0.418000													12	50					0	0	0.080935	0	0
ULK4	54986	broad.mit.edu	37	3	41953050	41953050	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:41953050C>T	uc003ckv.4	-	9	1199	c.998G>A	c.(997-999)gGt>gAt	p.G333D	ULK4_uc003ckw.2_Missense_Mutation_p.G333D|ULK4_uc003ckx.1_Missense_Mutation_p.G333D	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	333							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GAAAGAGTGACCTAGTGGTTG	0.408000													10	100					0	0	0.069234	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								29	44					0	0	0.059317	0	0
E4F1	1877	broad.mit.edu	37	16	2279638	2279638	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr16:2279638C>T	uc002cpm.3	+	2	425	c.377C>T	c.(376-378)tCt>tTt	p.S126F	E4F1_uc010bsi.3_Missense_Mutation_p.S126F|E4F1_uc010bsj.3_Missense_Mutation_p.S126F	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	Homo sapiens E4F transcription factor 1 (E4F1), mRNA.	126					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GAGGCGGCCTCTCTGGCAGCA	0.617000													40	97					0	0	0.080422	0	0
N4BP3	23138	broad.mit.edu	37	5	177547253	177547253	+	Silent	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr5:177547253G>A	uc003mik.1	+	2	652	c.405G>A	c.(403-405)gcG>gcA	p.A135A	N4BP3_uc003mil.1_5'Flank	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA.	135						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAAGTCTGGCGTCCCACAAAG	0.682000													23	24					0	0	0.076483	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998600	27998600	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:27998600C>A	uc004dbx.1	-	0	967	c.852G>T	c.(850-852)aaG>aaT	p.K284N		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	284										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GTCCCCTGTGCTTGGCCACAC	0.517000													15	60					1.02788e-11	1.08747e-11	0.033300	1	0
GPR116	221395	broad.mit.edu	37	6	46830657	46830657	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr6:46830657C>T	uc003oyo.3	-	14	2456	c.2167G>A	c.(2167-2169)Gcc>Acc	p.A723T	GPR116_uc011dwj.1_Missense_Mutation_p.A278T|GPR116_uc011dwk.1_Missense_Mutation_p.A152T|GPR116_uc003oyp.3_Missense_Mutation_p.A581T|GPR116_uc003oyq.3_Missense_Mutation_p.A723T|GPR116_uc010jzi.1_Missense_Mutation_p.A395T	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	723					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTTATTGGGGCAGAGATGCAG	0.512000													43	132					0	0	0.111260	0	0
PGAM2	5224	broad.mit.edu	37	7	44102503	44102503	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr7:44102503G>C	uc003tjs.3	-	2	680	c.622C>G	c.(622-624)Ctg>Gtg	p.L208V		NM_000290	NP_000281	P15259	PGAM2_HUMAN	Homo sapiens phosphoglycerate mutase 2 (muscle) (PGAM2), mRNA.	208					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						GGCAGGTTCAGCTCCATGATC	0.557000													8	44					0	0	0.047766	0	0
ZBED1	9189	broad.mit.edu	37	X	2407265	2407265	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:2407265T>A	uc022brx.1	-	0	1496	c.1496A>T	c.(1495-1497)gAa>gTa	p.E499V	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.E499V|ZBED1_uc004cqg.2_Missense_Mutation_p.E499V|ZBED1_uc022brw.1_Missense_Mutation_p.E499V	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	499						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTTGGCCTCTTCCACCACGCG	0.637000													47	49					0	0	0.048971	0	0
RGAG1	57529	broad.mit.edu	37	X	109696415	109696415	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:109696415G>A	uc004eor.2	+	2	2816	c.2570G>A	c.(2569-2571)gGg>gAg	p.G857E	RGAG1_uc011msr.1_Missense_Mutation_p.G857E	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	857								p.G857G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCCTCTGGAGGGATGTCCATG	0.527000													96	143					0	0	0.048971	0	0
ACTL9	284382	broad.mit.edu	37	19	8808420	8808420	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:8808420C>T	uc002mkl.2	-	0	753	c.632G>A	c.(631-633)gGc>gAc	p.G211D		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	211						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CAGGTTGTAGCCCTGGAAGAC	0.682000													24	22					0	0	0.034045	0	0
CCDC99	54908	broad.mit.edu	37	5	169026067	169026067	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr5:169026067C>T	uc003mae.4	+	9	1507	c.1228C>T	c.(1228-1230)Ctt>Ttt	p.L410F	CCDC99_uc010jjj.3_Missense_Mutation_p.L339F|CCDC99_uc011deq.2_Missense_Mutation_p.L227F|CCDC99_uc010jjk.3_Missense_Mutation_p.L136F	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Homo sapiens coiled-coil domain containing 99 (CCDC99), mRNA.	410					cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(8)|ovary(1)|skin(1)	25	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAGCGAAAACTTTTTGCAAA	0.353000													5	56					0	0	0.014758	0	0
CCDC113	29070	broad.mit.edu	37	16	58292428	58292428	+	Splice_Site	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr16:58292428G>A	uc002ene.3	+	4	625	c.546_splice	c.e4+1	p.R182_splice	CCDC113_uc010vid.2_Splice_Site_p.R128_splice	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	Homo sapiens coiled-coil domain containing 113 (CCDC113), transcript variant 1, mRNA.	182						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						CCGCCGGAGGGTAAGTTGGCA	0.418000													17	24					0	0	0.028581	0	0
EDDM3B	64184	broad.mit.edu	37	14	21238446	21238446	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr14:21238446G>C	uc021ron.1	+	0	137	c.137G>C	c.(136-138)aGa>aCa	p.R46T	EDDM3B_uc001vyd.3_Missense_Mutation_p.R46T	NM_022360	NP_071755	P56851	EP3B_HUMAN	Homo sapiens epididymal protein 3B (EDDM3B), mRNA.	46					spermatid development	extracellular region		p.R46I(2)		central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						CGAGAATTCAGAGAGTACAAA	0.393000													24	82					0	0	0.083992	0	0
GALNTL5	168391	broad.mit.edu	37	7	151711757	151711757	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr7:151711757T>A	uc003wkp.3	+	7	1325	c.1055T>A	c.(1054-1056)aTa>aAa	p.I352K	GALNTL5_uc010lqf.3_Missense_Mutation_p.I241K|GALNTL5_uc003wkq.3_Missense_Mutation_p.I103K|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	352	Catalytic subdomain B.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CAACTCTTTATAATCCCCTGC	0.393000													44	64					0	0	0.048971	0	0
WAS	7454	broad.mit.edu	37	X	48542340	48542340	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:48542340A>G	uc004dkm.4	+	0	155	c.98A>G	c.(97-99)cAg>cGg	p.Q33R		NM_000377	NP_000368	P42768	WASP_HUMAN	Homo sapiens Wiskott-Aldrich syndrome (eczema-thrombocytopenia) (WAS), mRNA.	33					T cell receptor signaling pathway|blood coagulation|defense response|epidermis development|immune response	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CACGAGAACCAGCGACTCTTT	0.622000			"""Mis, N, F, S"""			lymphoma							9	63					0	0	0.058154	0	0
FCRL3	115352	broad.mit.edu	37	1	157667654	157667654	+	Silent	SNP	C	C	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr1:157667654C>A	uc001fqz.4	-	4	646	c.354G>T	c.(352-354)ctG>ctT	p.L118L	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Silent_p.L118L|FCRL3_uc001frc.1_Silent_p.L118L	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	118	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CCTGACATCTCAGAATGACAT	0.423000													3	86					6.4e-05	6.67429e-05	0.004672	1	0
LMOD2	442721	broad.mit.edu	37	7	123302491	123302491	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr7:123302491G>A	uc003vky.2	+	1	1008	c.851G>A	c.(850-852)gGg>gAg	p.G284E		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	Homo sapiens leiomodin 2 (cardiac) (LMOD2), mRNA.	284						cytoskeleton	actin binding|tropomyosin binding										ACGGGAAAGGGGATCCTGGCC	0.542000													7	90					0	0	0.038147	0	0
ABCA6	23460	broad.mit.edu	37	17	67080415	67080415	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr17:67080415G>C	uc002jhw.1	-	33	4517	c.4342C>G	c.(4342-4344)Cag>Gag	p.Q1448E		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1448	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATTTGCTGCTGCCCTGTGGGG	0.483000													3	49					0	0	0.004672	0	0
C10orf91	170393	broad.mit.edu	37	10	134259250	134259250	+	Missense_Mutation	SNP	C	C	T	rs112176383		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr10:134259250C>T	uc001llm.3	+	1	120	c.80C>T	c.(79-81)aCg>aTg	p.T27M		NM_173541	NP_775812	Q5T1B1	CJ091_HUMAN	Homo sapiens chromosome 10 open reading frame 91 (C10orf91), mRNA.	27										endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		GCTTGCTGGACGCATGACCAG	0.607000													40	57					0	0	0.045515	0	0
DNAH10	196385	broad.mit.edu	37	12	124408866	124408866	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr12:124408866G>A	uc001uft.4	+	65	11324	c.11299G>A	c.(11299-11301)Gct>Act	p.A3767T	DNAH10_uc001ufu.4_5'Flank	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3767					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAAGCCCTGCGCTTGGTTGTC	0.403000													14	21					0	0	0.024245	0	0
CBLB	868	broad.mit.edu	37	3	105495351	105495351	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:105495351T>A	uc003dwc.3	-	3	777	c.455A>T	c.(454-456)cAc>cTc	p.H152L	CBLB_uc011bhi.2_Missense_Mutation_p.H174L|CBLB_uc003dwd.2_Missense_Mutation_p.H152L|CBLB_uc003dwe.2_Missense_Mutation_p.H152L|CBLB_uc011bhj.1_Intron	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	152	4H.|Cbl-PTB.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGCCAGCATGTGACTGAAGAT	0.378000			Mis S		AML								15	95					0	0	0.028581	0	0
ITIH6	347365	broad.mit.edu	37	X	54777700	54777700	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:54777700T>C	uc004dtj.2	-	11	3496	c.3466A>G	c.(3466-3468)Act>Gct	p.T1156A		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	1156					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										ATGGTGATAGTATAGGCCCGG	0.592000													24	25					0	0	0.076483	0	0
abParts	0	broad.mit.edu	37	15	22473333	22473333	+	RNA	SNP	A	A	G			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr15:22473333A>G	uc001yuj.2	-	5		c.78T>C								Parts of antibodies, mostly variable regions.																		CCAGGAGGAGAAAGAACCACA	0.512000													3	35					0	0	0.004672	0	0
DENND1A	57706	broad.mit.edu	37	9	126319963	126319963	+	Silent	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr9:126319963C>T	uc011lzm.1	-	10	997	c.783G>A	c.(781-783)ctG>ctA	p.L261L	DENND1A_uc011lzl.1_Intron|DENND1A_uc004bny.1_Silent_p.L110L|DENND1A_uc004bnz.1_Silent_p.L293L|DENND1A_uc004boa.1_Silent_p.L293L|DENND1A_uc004bob.1_Silent_p.L263L|DENND1A_uc004boc.3_Silent_p.L261L	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	293	DENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GCCTGTTCTTCAGGGAAGAGA	0.537000													5	25					0	0	0.014758	0	0
MYH1	4619	broad.mit.edu	37	17	10404045	10404045	+	Missense_Mutation	SNP	C	C	T	rs142605633		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr17:10404045C>T	uc002gmo.3	-	27	3857	c.3763G>A	c.(3763-3765)Gct>Act	p.A1255T	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1255						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.A1255T(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTTCTAGAGCGCGGCACATC	0.453000													16	57					0	0	0.028581	0	0
DSPP	1834	broad.mit.edu	37	4	88534157	88534157	+	Silent	SNP	T	T	C			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr4:88534157T>C	uc003hqu.3	+	3	939	c.819T>C	c.(817-819)agT>agC	p.S273S		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	273					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GAAAAGACAGTAGTAATAACA	0.438000													22	24					0	0	0.055883	0	0
C12orf26	84190	broad.mit.edu	37	12	82828486	82828486	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr12:82828486G>A	uc001szq.3	+	6	1456	c.1387G>A	c.(1387-1389)Gtt>Att	p.V463I		NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	Homo sapiens chromosome 12 open reading frame 26 (C12orf26), mRNA.	463										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	19						ATTGGAGCGGGTTGCAGCTGG	0.373000													28	54					0	0	0.034045	0	0
SF3B3	23450	broad.mit.edu	37	16	70601345	70601345	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr16:70601345C>T	uc002ezf.3	+	20	3069	c.2858C>T	c.(2857-2859)gCc>gTc	p.A953V		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	953					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding	p.A953V(2)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GCTGCTATTGCCCCATTCCAG	0.493000													3	80					0	0	0.004672	0	0
ING3	54556	broad.mit.edu	37	7	120590817	120590817	+	Splice_Site	SNP	T	T	C			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr7:120590817T>C	uc003vjn.3	+	1	1	c.-133_splice	c.e1-1		ING3_uc011knr.1_Splice_Site|ING3_uc003vjl.3_Splice_Site|ING3_uc003vjm.1_Splice_Site|ING3_uc003vjo.3_Splice_Site|ING3_uc003vjp.3_Splice_Site|ING3_uc011kns.2_5'Flank	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	Homo sapiens inhibitor of growth family, member 3 (ING3), transcript variant 1, mRNA.						histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					tttttttttcttttttttttt	0.542000													2	4					0	0	0.004672	0	0
ZW10	9183	broad.mit.edu	37	11	113639586	113639586	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr11:113639586A>G	uc001poe.3	-	1	306	c.209T>C	c.(208-210)aTt>aCt	p.I70T	ZW10_uc009yyv.3_Non-coding_Transcript	NM_004724	NP_004715	O43264	ZW10_HUMAN	Homo sapiens ZW10, kinetochore associated, homolog (Drosophila) (ZW10), mRNA.	70	Interaction with RINT1.|Interaction with ZWINT.				ER to Golgi vesicle-mediated transport|cell division|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CAGCAGGTCAATGTCTTCAGA	0.463000													21	90					0	0	0.055883	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr21:14414902G>A	uc002yiy.3	+	1		c.339G>A			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		CCAGCTTGACGTCCTTGATGG	0.443000													3	18					0	0	0.009096	0	0
ZNF292	23036	broad.mit.edu	37	6	87967233	87967233	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr6:87967233delC	uc003plm.4	+	7	3927	c.3886delC	c.(3886-3888)catfs	p.H1296fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAATACAAATCATTATTCCTC	0.378													8	11	---	---	---	---					
BC067347	0	broad.mit.edu	37	17	20744542	20744546	+	RNA	DEL	CGCAC	CGCAC	-			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr17:20744542_20744546delCGCAC	uc010crb.2	+	0		c.202_206delCGCAC								Homo sapiens cDNA clone IMAGE:6269068, partial cds.																		CCTCCTCGGGCGCACCGCACCCGGG	0.722													10	10	---	---	---	---					
CIC	23152	broad.mit.edu	37	19	42793381	42793381	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:42793381delT	uc002otf.1	+	7	1223	c.1183delT	c.(1183-1185)tatfs	p.Y395fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTCTACCCAGTATGGAGCTCC	0.657			"""Mis, F, S"""		oligodendroglioma								37	26	---	---	---	---					
LILRB5	10990	broad.mit.edu	37	19	54754838	54754839	+	Frame_Shift_Ins	INS	-	-	G	rs11375503		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:54754838_54754839insG	uc010yer.1	-	12	1907_1908	c.1796_1797insC	c.(1795-1797)ccafs	p.P599fs	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	424					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGGTGGGGGTGGGGAGGCCTG	0.604													5	1	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	uc010njt.3	-	0						NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			4	6	---	---	---	---					
TBC1D8B	54885	broad.mit.edu	37	X	106046201	106046201	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:106046201delG	uc004emo.3	+	0	283	c.118delG	c.(118-120)gggfs	p.G40fs	TBC1D8B_uc004emm.3_Frame_Shift_Del_p.G40fs|TBC1D8B_uc004emn.3_Frame_Shift_Del_p.G40fs	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	40						intracellular	Rab GTPase activator activity|calcium ion binding	p.G40G(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGAAGGCGGAGGGGGGCTCAC	0.577													15	23	---	---	---	---					
