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
PADI1	29943	broad.mit.edu	37	1	17548858	17548858	+	Missense_Mutation	SNP	C	C	T	rs142259163		TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr1:17548858C>T	ENST00000375471.4	+	2	258	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	56					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.R56C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GGTCTACAACCGCACACGTGT	0.552000													7	62					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16387071	16387071	+	Missense_Mutation	SNP	A	A	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr20:16387071A>T	ENST00000354981.2	-	16	1800	c.1643T>A	c.(1642-1644)aTg>aAg	p.M548K	KIF16B_ENST00000408042.1_Missense_Mutation_p.M548K|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.M548K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	548					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AAAGCGAAACATATTGGTTCT	0.468000													61	83					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32487699	32487699	+	Silent	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr22:32487699C>T	ENST00000266088.4	+	11	1480	c.1230C>T	c.(1228-1230)taC>taT	p.Y410Y	SLC5A1_ENST00000543737.1_Silent_p.Y283Y	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	410					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TGGACATCTACGCCAAGGTCC	0.537000													5	119					0	0	1	0	0
IGBP1	3476	broad.mit.edu	37	X	69370131	69370131	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chrX:69370131A>G	ENST00000342206.6	+	5	1329	c.830A>G	c.(829-831)tAt>tGt	p.Y277C	IGBP1_ENST00000356413.4_Missense_Mutation_p.Y277C			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	277					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						CATCGGAAATATGGAGCATTA	0.458000													7	20					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													4	131					0	0	1	0	0
MLPH	79083	broad.mit.edu	37	2	238419718	238419718	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:238419718C>T	ENST00000264605.3	+	4	713	c.419C>T	c.(418-420)tCc>tTc	p.S140F	MLPH_ENST00000445024.2_Missense_Mutation_p.S140F|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000410032.1_Missense_Mutation_p.S140F|MLPH_ENST00000409373.1_Missense_Mutation_p.S140F|MLPH_ENST00000338530.4_Missense_Mutation_p.S140F	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	140							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GTCATCCGGTCCCTCCACGGG	0.532000													31	208					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109380084	109380084	+	Missense_Mutation	SNP	C	C	A			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:109380084C>A	ENST00000283195.6	+	20	3215	c.3089C>A	c.(3088-3090)cCt>cAt	p.P1030H		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1030					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CAGCCAACTCCTTTTAAATTT	0.423000													4	175					0.00909568	0.00909568	1	1	0
HS6ST3	266722	broad.mit.edu	37	13	97485206	97485206	+	Silent	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr13:97485206C>T	ENST00000376705.2	+	2	1194	c.1170C>T	c.(1168-1170)aaC>aaT	p.N390N		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	390						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TGGAGATCAACGAGGGTGCCC	0.498000													7	100					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42791808	42791808	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr19:42791808A>G	ENST00000572681.2	+	6	3489	c.3421A>G	c.(3421-3423)Aag>Gag	p.K1141E	CIC_ENST00000575354.2_Missense_Mutation_p.K232E|CIC_ENST00000160740.3_Missense_Mutation_p.K232E			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	232	Pro-rich.				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)				GACCGTCAGCAAGATCCTGGG	0.622000			"""Mis, F, S"""		oligodendroglioma								36	8					0	0	1	0	0
PTGR1	22949	broad.mit.edu	37	9	114337092	114337092	+	Missense_Mutation	SNP	C	C	T	rs146199919	byFrequency	TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr9:114337092C>T	ENST00000407693.2	-	8	944	c.682G>A	c.(682-684)Ggc>Agc	p.G228S	PTGR1_ENST00000238248.3_Missense_Mutation_p.G105S|PTGR1_ENST00000309195.5_Missense_Mutation_p.G228S|ZNF483_ENST00000358151.4_Intron|RP11-16L21.7_ENST00000450154.1_RNA|PTGR1_ENST00000538962.1_Missense_Mutation_p.G228S	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	228					leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TTCATCTGGCCGATAACAGTG	0.403000													9	77					0	0	1	0	0
CXCR4	0	broad.mit.edu	37	2	136873410	136873410	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:136873410G>A	ENST00000409817.1	-	1	403	c.100C>T	c.(100-102)Cgt>Tgt	p.R34C	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Missense_Mutation_p.R30C	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	30					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	TTTTCTTCACGGAAACAGGGT	0.433000													56	40					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39507890	39507890	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr6:39507890G>A	ENST00000287152.7	-	13	1628	c.1534C>T	c.(1534-1536)Cgc>Tgc	p.R512C	KIF6_ENST00000373216.3_Missense_Mutation_p.R512C|KIF6_ENST00000373215.3_Missense_Mutation_p.R512C|KIF6_ENST00000373213.4_Missense_Mutation_p.R351C|KIF6_ENST00000538893.1_Intron	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	512			R -> H (in dbSNP:rs2273063).		microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTTCCTAGGCGGAAGGGTGGG	0.498000													72	108					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64067698	64067698	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr15:64067698A>G	ENST00000443617.2	-	2	212	c.125T>C	c.(124-126)gTt>gCt	p.V42A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	42					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTTATTGCTAACCAGTTTAGA	0.433000													4	109					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74328199	74328199	+	Silent	SNP	T	T	C			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr15:74328199T>C	ENST00000268059.6	+	8	2493	c.2397T>C	c.(2395-2397)ccT>ccC	p.P799P	PML_ENST00000565898.1_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000354026.6_Silent_p.P751P|PML_ENST00000435786.2_3'UTR|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000268058.3_Intron|PML_ENST00000569965.1_Intron	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	89					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TCCAAGTGCCTCTGGAAGCCT	0.627000			T	"""RARA, PAX5"""	"""APL, ALL"""								6	171					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	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|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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								33	55					0	0	1	0	0
RSRC1	51319	broad.mit.edu	37	3	157920909	157920909	+	Missense_Mutation	SNP	G	G	C			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr3:157920909G>C	ENST00000295930.3	+	4	531	c.369G>C	c.(367-369)agG>agC	p.R123S	RSRC1_ENST00000475278.2_Missense_Mutation_p.R123S|RSRC1_ENST00000480820.1_Missense_Mutation_p.R123S|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000464171.1_Intron	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	123	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			GCAGTGAAAGGTCCAGTCACA	0.433000													8	18					0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100166434	100166434	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr14:100166434C>T	ENST00000261835.3	+	5	543	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	CYP46A1_ENST00000423126.2_Missense_Mutation_p.R50W	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	147					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGCCTTCAGCCGGAGGTGAGT	0.627000													5	13					0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111895132	111895132	+	Silent	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr12:111895132C>T	ENST00000377617.3	-	22	3563	c.3402G>A	c.(3400-3402)gcG>gcA	p.A1134A	ATXN2_ENST00000542287.2_Silent_p.A869A|ATXN2_ENST00000535949.1_Silent_p.A827A|ATXN2_ENST00000389153.4_Silent_p.A871A|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1134					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CGTTAGGGTGCGCATACTGCT	0.537000													8	45					0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22390464	22390464	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr4:22390464T>C	ENST00000334304.5	-	19	3099	c.2830A>G	c.(2830-2832)Aga>Gga	p.R944G	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	944					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TCAGGGTGTCTTTTCAACTGA	0.458000													66	82					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119133649	119133649	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr3:119133649A>G	ENST00000264245.4	+	12	3405	c.2873A>G	c.(2872-2874)aAa>aGa	p.K958R		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	958					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CTAGATAGCAAACCCACGGTT	0.567000													88	120					0	0	1	0	0
MAP2K6	5608	broad.mit.edu	37	17	67501928	67501928	+	Silent	SNP	G	G	A			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr17:67501928G>A	ENST00000590474.1	+	2	311	c.24G>A	c.(22-24)aaG>aaA	p.K8K	MAP2K6_ENST00000589647.1_5'UTR	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	8					activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TAGGCAAGAAGCGAAACCCTG	0.433000													10	146					0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2403386	2403386	+	Silent	SNP	A	A	G			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr7:2403386A>G	ENST00000360876.4	+	5	1046	c.990A>G	c.(988-990)gaA>gaG	p.E330E	EIF3B_ENST00000397011.2_Silent_p.E330E	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	330	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		TCTCAATTGAAGAAAGAGCGG	0.448000													39	31					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55419211	55419211	+	Missense_Mutation	SNP	C	C	G			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr11:55419211C>G	ENST00000312422.2	+	1	832	c.832C>G	c.(832-834)Ccc>Gcc	p.P278A		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CATTATCACTCCCATGTTAAA	0.408000													5	334					0	0	1	0	0
VPS36	51028	broad.mit.edu	37	13	52991270	52991270	+	Silent	SNP	A	A	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr13:52991270A>T	ENST00000378060.4	-	12	939	c.912T>A	c.(910-912)cgT>cgA	p.R304R		NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	304					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		TGTCAAACACACGGAGCCTGA	0.468000													29	37					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46766355	46766355	+	Missense_Mutation	SNP	A	A	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr6:46766355A>T	ENST00000230588.4	+	4	167	c.158A>T	c.(157-159)gAc>gTc	p.D53V		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	53					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GCAGGCTTGGACCTCTTTCAA	0.398000													34	53					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74003439	74003439	+	Missense_Mutation	SNP	C	C	A			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr17:74003439C>A	ENST00000301607.3	-	22	6100	c.5847G>T	c.(5845-5847)agG>agT	p.R1949S	EVPL_ENST00000586740.1_Missense_Mutation_p.R1971S	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1949	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGCGGCCTGTCCTCTTGGGGT	0.662000													39	49					2.75727e-19	2.82292e-19	1	1	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr20:46279860G>A	ENST00000372004.3	+	20	3990	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													5	68					0	0	1	0	0
GDPGP1	390637	broad.mit.edu	37	15	90784550	90784550	+	Missense_Mutation	SNP	G	G	A	rs143773020	byFrequency	TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr15:90784550G>A	ENST00000558017.1	+	4	830	c.410G>A	c.(409-411)cGt>cAt	p.R137H	GDPGP1_ENST00000329600.6_Missense_Mutation_p.R137H	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN	GDP-D-glucose phosphorylase 1	137					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										GTCCTCTTCCGTTTGCACCGG	0.597000													8	147					0	0	1	0	0
CYP39A1	51302	broad.mit.edu	37	6	46555791	46555791	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr6:46555791C>T	ENST00000275016.2	-	9	1344	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	381					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						AATTCAGGCTCAGGAAAATAC	0.299000													30	44					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132160495	132160495	+	Missense_Mutation	SNP	C	C	G			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chrX:132160495C>G	ENST00000511190.1	-	6	2223	c.1754G>C	c.(1753-1755)aGt>aCt	p.S585T	USP26_ENST00000370832.1_Missense_Mutation_p.S585T|USP26_ENST00000406273.1_Missense_Mutation_p.S585T	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	585					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CCATGATACACTGATGTTTCC	0.398000													52	5					0	0	1	0	0
CCL11	6356	broad.mit.edu	37	17	32614693	32614693	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr17:32614693C>T	ENST00000305869.3	+	3	419	c.278C>T	c.(277-279)cCa>cTa	p.P93L		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	93					cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CAAAAATCTCCAACTCCAAAG	0.438000													12	27					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27427493	27427493	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr3:27427493G>A	ENST00000295736.5	-	23	3425	c.3355C>T	c.(3355-3357)Cgc>Tgc	p.R1119C	SLC4A7_ENST00000437179.1_Missense_Mutation_p.R1000C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R1111C|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000435667.2_Missense_Mutation_p.R1004C|SLC4A7_ENST00000454389.1_Missense_Mutation_p.R1128C|SLC4A7_ENST00000388777.4_Missense_Mutation_p.R669C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.R1000C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R1115C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R1115C|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R995C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1119						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.R1119C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						ATGAGTTTGCGCACAAACACT	0.328000													4	170					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10546191	10546191	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr17:10546191G>T	ENST00000583535.1	-	15	1620	c.1533C>A	c.(1531-1533)ttC>ttA	p.F511L	MYH3_ENST00000226209.7_Missense_Mutation_p.F511L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	511	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CGAAGTCAATGAACGTCCACT	0.502000													87	132					3.26951e-42	3.429e-42	1	1	0
ITGA4	3676	broad.mit.edu	37	2	182347308	182347308	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:182347308T>C	ENST00000397033.2	+	9	1401	c.971T>C	c.(970-972)cTc>cCc	p.L324P		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	324					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TCAGATCTGCTCGTGGGAGCA	0.512000													11	206					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													5	37					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42507582	42507582	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr19:42507582C>T	ENST00000262895.3	-	18	2415	c.2416G>A	c.(2416-2418)Ggc>Agc	p.G806S	GRIK5_ENST00000593562.1_Missense_Mutation_p.G806S|GRIK5_ENST00000301218.4_Missense_Mutation_p.G806S	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	806						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	ATAAAAATGCCACCAATGTTC	0.577000													28	4					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													4	73					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24774809	24774809	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr8:24774809G>A	ENST00000221166.5	+	3	2223	c.1441G>A	c.(1441-1443)Gcc>Acc	p.A481T	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.A481T|NEFM_ENST00000433454.2_Missense_Mutation_p.A105T|NEFM_ENST00000518131.1_Missense_Mutation_p.A481T			P07197	NFM_HUMAN	neurofilament, medium polypeptide	481	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGAGGAATTGGCCGTTTCCAT	0.458000													23	18					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128493774	128493774	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr7:128493774C>T	ENST00000325888.8	+	39	6628	c.6367C>T	c.(6367-6369)Ccc>Tcc	p.P2123S	FLNC_ENST00000346177.6_Missense_Mutation_p.P2090S|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2123					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TTCAGGAAGCCCCTTCACTGT	0.642000													27	26					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78425906	78425907	+	Frame_Shift_Del	DEL	TG	TG	-	rs145571406		TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr1:78425906_78425907delTG	ENST00000370767.1	-	16	1625_1626	c.1538_1539delCA	c.(1537-1539)gfs	p.A513fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.A513fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.A534fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	513	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AGTGTGGATATGCATTTCCCCA	0.431			"""F, N"""		oligodendroglioma								23	8	---	---	---	---					
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr1:155886422_155886423delCT	ENST00000368320.3	-	12	1571_1572	c.1546_1547delAG	c.(1546-1548)gfs	p.R516fs	KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs			Q7Z7F0	K0907_HUMAN	KIAA0907	516								p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396													7	181	---	---	---	---					
TAF1B	9014	broad.mit.edu	37	2	9989570	9989571	+	Frame_Shift_Ins	INS	-	-	A			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:9989570_9989571insA	ENST00000263663.5	+	3	374_375	c.186_187insA	c.(184-189)ctaaaafs	p.LK62fs	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	62					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	p.K63fs*1(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCGGGGGCTTAAAAAAAAAAA	0.337													20	44	---	---	---	---					
DLX2	1746	broad.mit.edu	37	2	172967128	172967129	+	In_Frame_Ins	INS	-	-	GCT			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:172967128_172967129insGCT	ENST00000234198.4	-	1	499_500	c.138_139insAGC	c.(136-141)agtcca>agAGCtcca	p.46_46S>RA	DLX2_ENST00000466293.2_In_Frame_Ins_p.46_46S>RA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	46	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GGCTTGTGGAGgctgctgctgc	0.738													3	4	---	---	---	---					
RBM33	155435	broad.mit.edu	37	7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr7:155531073_155531074delCA	ENST00000401878.3	+	11	1911_1912	c.1713_1714delCA	c.(1711-1716)cccafs	p.PT571fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	571	Pro-rich.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.530													7	73	---	---	---	---					
