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
QRFPR	84109	broad.mit.edu	37	4	122250653	122250653	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr4:122250653C>T	ENST00000394427.2	-	6	1523	c.1112G>A	c.(1111-1113)cGg>cAg	p.R371Q	QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	371						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						TGCTTTCTTCCGCATCATTGT	0.378000													6	189					0	0	1	0	0
NR2F2	7026	broad.mit.edu	37	15	96877599	96877599	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr15:96877599G>A	ENST00000394166.3	+	2	2126	c.737G>A	c.(736-738)cGc>cAc	p.R246H	NR2F2_ENST00000421109.2_Missense_Mutation_p.R113H|NR2F2_ENST00000394171.2_Missense_Mutation_p.R93H|NR2F2_ENST00000453270.2_Missense_Mutation_p.R93H	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	246	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GCCCTGCTTCGCCTCACCTGG	0.682000													15	88					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111912	57111912	+	Silent	SNP	G	G	A	rs2926744		TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr12:57111912G>A	ENST00000454682.1	-	3	3683	c.3402C>T	c.(3400-3402)ccC>ccT	p.P1134P	NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642000			T	BCL6	NHL								3	57					0	0	1	0	0
SCRN1	9805	broad.mit.edu	37	7	29994961	29994961	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr7:29994961T>C	ENST00000426154.1	-	3	351	c.175A>G	c.(175-177)Atc>Gtc	p.I59V	SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000409497.1_Missense_Mutation_p.I59V|SCRN1_ENST00000409570.1_Missense_Mutation_p.I59V|SCRN1_ENST00000242059.5_Missense_Mutation_p.I59V	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	59					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						ACTTGGTCGATTGAAATGTAA	0.473000													6	84					0	0	1	0	0
WDR12	55759	broad.mit.edu	37	2	203772675	203772675	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr2:203772675C>T	ENST00000261015.3	-	2	798	c.49G>A	c.(49-51)Gta>Ata	p.V17I	WDR12_ENST00000477723.1_5'UTR	NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12	17					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						ACATCATCTACGGCATATCTA	0.338000													7	42					0	0	1	0	0
PDHA1	5160	broad.mit.edu	37	X	19377663	19377663	+	Silent	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chrX:19377663C>T	ENST00000379806.5	+	12	1324	c.1179C>T	c.(1177-1179)gcC>gcT	p.A393A	PDHA1_ENST00000478795.1_3'UTR|PDHA1_ENST00000545074.1_Silent_p.A362A|PDHA1_ENST00000379804.1_Silent_p.A74A|PDHA1_ENST00000540249.1_Silent_p.A324A|PDHA1_ENST00000422285.2_Silent_p.A355A	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	355					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	TTGCCACGGCCGATCCTGAGC	0.468000													4	113					0	0	1	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88201794	88201794	+	Silent	SNP	A	A	G			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr9:88201794A>G	ENST00000357081.3	-	22	3129	c.2985T>C	c.(2983-2985)caT>caC	p.H995H	AGTPBP1_ENST00000376109.3_Silent_p.H1007H|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Silent_p.H955H|AGTPBP1_ENST00000432218.1_Intron			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	995					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GCCCCTTAGCATGGTAAATTG	0.393000													4	136					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11427813	11427813	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr2:11427813T>C	ENST00000315872.6	-	2	639	c.191A>G	c.(190-192)aAa>aGa	p.K64R	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	64					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GTTCTTGTTTTTCCTCAAAGC	0.274000													16	32					0	0	1	0	0
PREB	10113	broad.mit.edu	37	2	27356048	27356048	+	Silent	SNP	G	G	A			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr2:27356048G>A	ENST00000260643.2	-	3	736	c.483C>T	c.(481-483)tgC>tgT	p.C161C	PREB_ENST00000406567.3_Silent_p.C161C|PREB_ENST00000416802.1_5'UTR	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	161					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGGTTGAAGCACACAACTT	0.542000													6	220					0	0	1	0	0
ZNF83	55769	broad.mit.edu	37	19	53116885	53116885	+	Silent	SNP	A	A	G	rs7247257		TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr19:53116885A>G	ENST00000597597.1	-	2	3186	c.933T>C	c.(931-933)caT>caC	p.H311H	ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000301096.3_Silent_p.H311H			P51522	ZNF83_HUMAN	zinc finger protein 83	311						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTATGAATTCTCC	0.418000													5	115					0	0	1	0	0
ANKFY1	51479	broad.mit.edu	37	17	4098228	4098228	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr17:4098228G>A	ENST00000433651.1	-	10	1454	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	ANKFY1_ENST00000341657.4_Intron|ANKFY1_ENST00000574367.1_Intron|ANKFY1_ENST00000570535.1_Intron			Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	0						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						ATTTCCTGGCGCCTGCAGACC	0.502000													6	13					0	0	1	0	0
ANKRD32	84250	broad.mit.edu	37	5	94027275	94027275	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr5:94027275C>A	ENST00000265140.5	+	19	2845	c.2426C>A	c.(2425-2427)aCa>aAa	p.T809K		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	809										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		GCAGGAGAAACAGCCCTGCAT	0.353000													8	31					0.0581538	0.0596076	1	1	0
SPICE1	152185	broad.mit.edu	37	3	113172643	113172643	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr3:113172643C>T	ENST00000295872.4	-	14	2071	c.1812G>A	c.(1810-1812)tgG>tgA	p.W604*		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	604					cell division|mitosis	centriole|spindle	protein binding	p.W604C(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						GAGAGACTCTCCATCTCTGAG	0.413000													8	105					0	0	1	0	0
PUF60	22827	broad.mit.edu	37	8	144898893	144898893	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr8:144898893C>T	ENST00000526683.1	-	12	2032	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	PUF60_ENST00000456095.2_Missense_Mutation_p.V464M|PUF60_ENST00000453551.2_Missense_Mutation_p.V450M|PUF60_ENST00000313352.7_Missense_Mutation_p.V433M|PUF60_ENST00000527197.1_Missense_Mutation_p.V447M|PUF60_ENST00000349157.6_Missense_Mutation_p.V476M	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	493	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding	p.V493M(1)		NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACGCGGTTCACGGCCCCGAAC	0.517000													4	211					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8160343	8160343	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr19:8160343C>T	ENST00000600128.1	-	46	6115	c.5701G>A	c.(5701-5703)Ggc>Agc	p.G1901S	FBN3_ENST00000270509.2_Missense_Mutation_p.G1901S|FBN3_ENST00000601739.1_Missense_Mutation_p.G1901S			Q75N90	FBN3_HUMAN	fibrillin 3	1901	EGF-like 30; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGCAATGGCCAAATCGGCAC	0.542000													10	36					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	29					0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115421658	115421658	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr9:115421658G>A	ENST00000337530.6	+	4	1756	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	KIAA1958_ENST00000536272.1_Missense_Mutation_p.R515H	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	487								p.R487H(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GGCCTGGACCGCATCCTGAAG	0.557000													3	54					0	0	1	0	0
FAM66D	0	broad.mit.edu	37	8	11985819	11985819	+	RNA	SNP	A	A	G			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr8:11985819A>G	ENST00000434078.2	+	0	608					NR_027425.1																						CGTTGTGACAACTCCACCCGG	0.473000													9	25					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36640810	36640810	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr20:36640810C>T	ENST00000373448.2	-	3	1647	c.1409G>A	c.(1408-1410)cGc>cAc	p.R470H	TTI1_ENST00000373447.3_Missense_Mutation_p.R470H|TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000449821.1_Missense_Mutation_p.R470H	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	470							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CCTCTGGATGCGGTTCCAAGG	0.463000													4	74					0	0	1	0	0
PILRB	29990	broad.mit.edu	37	7	99956381	99956381	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr7:99956381A>G	ENST00000310771.4	+	16	2629	c.133A>G	c.(133-135)Atg>Gtg	p.M45V	PILRB_ENST00000444874.1_Intron|PILRB_ENST00000444073.1_Missense_Mutation_p.M45V|PILRB_ENST00000452089.1_Missense_Mutation_p.M45V|PILRB_ENST00000448382.1_Intron			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	45	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCAGCCTCCATGGGTGGCTC	0.552000													4	78					0	0	1	0	0
C1orf158	93190	broad.mit.edu	37	1	12815698	12815698	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr1:12815698T>C	ENST00000288048.5	+	2	376	c.160T>C	c.(160-162)Tac>Cac	p.Y54H	C1orf158_ENST00000376210.3_Intron	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	54										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CAGAAAAGAATACATCCCCTT	0.483000													24	21					0	0	1	0	0
SLMAP	7871	broad.mit.edu	37	3	57847745	57847745	+	Silent	SNP	T	T	C			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr3:57847745T>C	ENST00000383718.3	+	9	996	c.898T>C	c.(898-900)Tta>Cta	p.L300L	SLMAP_ENST00000428312.1_Silent_p.L300L|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000449503.2_Silent_p.L300L|SLMAP_ENST00000295951.3_Silent_p.L300L|SLMAP_ENST00000295952.3_Silent_p.L300L			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	300					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TCAGGAAGAATTAAGAGAATT	0.313000													4	187					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2039776	2039776	+	Silent	SNP	A	A	G	rs13296987	byFrequency	TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr9:2039776A>G	ENST00000382203.1	+	4	875	c.666A>G	c.(664-666)caA>caG	p.Q222Q	SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.Q222Q|SMARCA2_ENST00000382194.1_Silent_p.Q222Q|SMARCA2_ENST00000349721.2_Silent_p.Q222Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	222	Poly-Gln.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcagcaacagcagcagc	0.637000													3	35					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42182318	42182318	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr15:42182318C>T	ENST00000320955.6	-	4	697	c.470G>A	c.(469-471)cGt>cAt	p.R157H		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	157	Actin-binding.|CH 1.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GATCTGGAAACGCAGAATGAT	0.592000													4	6					0	0	1	0	0
GPR132	29933	broad.mit.edu	37	14	105518118	105518118	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr14:105518118G>A	ENST00000329797.3	-	4	1267	c.356C>T	c.(355-357)gCc>gTc	p.A119V	GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.A119V|GPR132_ENST00000392585.2_Missense_Mutation_p.A110V	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	119					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GAAGATGTAGGCGGTCACCTT	0.612000													27	163					0	0	1	0	0
CKM	1158	broad.mit.edu	37	19	45810787	45810787	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr19:45810787G>A	ENST00000221476.3	-	7	1073	c.899C>T	c.(898-900)gCg>gTg	p.A300V		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	300	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GCTCAGGTGCGCCAGCTTCAC	0.637000													9	19					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													3	54					0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36711479	36711479	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr6:36711479C>T	ENST00000244751.2	-	20	2174	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H	CPNE5_ENST00000393189.2_Missense_Mutation_p.R225H|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	517	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GACGATGTCGCGTTCAGCCAG	0.642000													10	107					0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21689897	21689897	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr16:21689897C>T	ENST00000388958.3	+	1	63	c.62C>T	c.(61-63)tCg>tTg	p.S21L	OTOA_ENST00000286149.4_Missense_Mutation_p.S21L	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	21					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CATGGAGTGTCGAGTTATACA	0.428000													8	103					0	0	1	0	0
DCBLD1	285761	broad.mit.edu	37	6	117859903	117859903	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr6:117859903A>G	ENST00000338728.5	+	8	1001	c.881A>G	c.(880-882)gAc>gGc	p.D294G	DCBLD1_ENST00000368503.4_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.D294G|GOPC_ENST00000467125.1_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	294	F5/8 type C.				cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		CGACTTCAGGACCAAGGCCCA	0.527000													15	44					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934983	28934983	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr18:28934983G>A	ENST00000257192.4	+	15	3036	c.2824G>A	c.(2824-2826)Gag>Aag	p.E942K	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.E301K	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	942					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TATGCACCCCGAGTTAGCCAA	0.488000													16	236					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs149757187		TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr7:114269973A>G	ENST00000393500.3	+	11	1105	c.285A>G	c.(283-285)caA>caG	p.Q95Q	FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502000													3	76					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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								20	88					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22163414	22163414	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr1:22163414G>T	ENST00000374695.3	-	75	10315	c.10236C>A	c.(10234-10236)agC>agA	p.S3412R		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3412	Ig-like C2-type 20.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGGCCCCAATGCTCTTGGTCT	0.662000													2	2					1	1	1	1	0
LRRC43	254050	broad.mit.edu	37	12	122674761	122674761	+	Silent	SNP	C	C	T			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr12:122674761C>T	ENST00000339777.4	+	5	775	c.747C>T	c.(745-747)caC>caT	p.H249H	LRRC43_ENST00000425921.1_Silent_p.H64H	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	249										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCCTCCGGCACCTGCGACTCC	0.652000													10	83					0	0	1	0	0
RP11-493L12.5	0	broad.mit.edu	37	12	47761313	47761314	+	RNA	INS	-	-	T	rs57593482		TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr12:47761313_47761314insT	ENST00000550019.1	+	0	262																											ttcgctctctattttttttttt	0.406													10	5	---	---	---	---					
CD2BP2	10421	broad.mit.edu	37	16	30365550	30365552	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr16:30365550_30365552delCAT	ENST00000305596.3	-	3	345_347	c.170_172delATG	c.(169-174)ggg>g	p.DG57del	CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	57					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CTGGACCCCCCATCATCATCATC	0.532													9	389	---	---	---	---					
CDK12	51755	broad.mit.edu	37	17	37618565	37618566	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr17:37618565_37618566insAC	ENST00000447079.4	+	1	274_275	c.241_242insAC	c.(241-243)cacfs	p.H81fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.H81fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	81					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTCTGATTCCGACACCTTCTCC	0.530			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			10	55	---	---	---	---					
RP11-308D16.4	0	broad.mit.edu	37	X	136030245	136030245	+	RNA	DEL	T	T	-			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chrX:136030245delT	ENST00000424306.1	+	0	2052																											GAGAACCTGCTTTTTTTTTTT	0.438													5	6	---	---	---	---