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
CCDC148	130940	broad.mit.edu	37	2	159196812	159196812	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr2:159196812T>C	ENST00000283233.5	-	5	741	c.428A>G	c.(427-429)cAc>cGc	p.H143R	CCDC148_ENST00000536771.1_Missense_Mutation_p.H57R|CCDC148_ENST00000409187.1_Missense_Mutation_p.H152R|CCDC148_ENST00000409889.1_Missense_Mutation_p.H143R	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	143								p.H143R(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTGCAAAGTGTGATGCTGTCT	0.343000													18	52					0	0	0.007413	0	0
C2orf76	130355	broad.mit.edu	37	2	120097480	120097480	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr2:120097480C>T	ENST00000409466.2	-	3	577	c.56G>A	c.(55-57)cGc>cAc	p.R19H	C2orf76_ENST00000334816.7_Missense_Mutation_p.R19H|C2orf76_ENST00000409877.1_Missense_Mutation_p.R19H|C2orf76_ENST00000498049.1_5'UTR|C2orf76_ENST00000409523.1_Missense_Mutation_p.R19H			Q3KRA6	CB076_HUMAN	chromosome 2 open reading frame 76	19								p.R19H(1)		large_intestine(1)|lung(3)|pancreas(1)	5						TTTGAAATTGCGATGTTCAAA	0.408000													11	94					0	0	0.001855	0	0
MYH7	4625	broad.mit.edu	37	14	23892851	23892851	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr14:23892851C>T	ENST00000355349.3	-	24	3166	c.3004G>A	c.(3004-3006)Gcc>Acc	p.A1002T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1002					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.A1002T(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGTTGGTGGGCCTCTTGCAGA	0.542000													76	215					0	0	0.003610	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15444288	15444288	+	Silent	SNP	C	C	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr4:15444288C>A	ENST00000295297.4	+	3	1015	c.756C>A	c.(754-756)gtC>gtA	p.V252V	C1QTNF7_ENST00000429690.1_Silent_p.V245V|C1QTNF7_ENST00000444304.2_Silent_p.V245V	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	245	C1q.					collagen		p.V245V(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						AAGATGAAGTCTGGCTGGAGA	0.493000													62	122					2.40655e-23	3.37245e-23	0.003610	1	0
TNKS1BP1	85456	broad.mit.edu	37	11	57087739	57087739	+	Missense_Mutation	SNP	C	C	A	rs142187077	byFrequency	TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr11:57087739C>A	ENST00000532437.1	-	2	853	c.542G>T	c.(541-543)cGc>cTc	p.R181L	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.R181L			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	181	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.R181L(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ACCCCACAGGCGGTCGGGGCT	0.652000													21	83					4.40665e-25	6.30395e-25	0.009535	1	0
DSC1	1823	broad.mit.edu	37	18	28714691	28714691	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr18:28714691C>A	ENST00000257197.3	-	12	1981	c.1720G>T	c.(1720-1722)Gca>Tca	p.A574S	DSC1_ENST00000257198.5_Missense_Mutation_p.A574S|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	574	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.A574S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ATTTGAGGTGCGTGATCGTTG	0.368000													6	9					1.06961e-07	1.24486e-07	0.003080	1	0
ITGA11	22801	broad.mit.edu	37	15	68695330	68695330	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr15:68695330G>A	ENST00000423218.2	-	2	186	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	ITGA11_ENST00000315757.7_Missense_Mutation_p.R31W			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	31					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.R31W(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGGATGACCCGGGGCTTCCTG	0.617000													11	47					0	0	0.001368	0	0
RFX3	5991	broad.mit.edu	37	9	3257077	3257077	+	Silent	SNP	C	C	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr9:3257077C>A	ENST00000382004.3	-	15	2039	c.1728G>T	c.(1726-1728)gtG>gtT	p.V576V	RFX3_ENST00000358730.2_Silent_p.V576V|RFX3_ENST00000302303.1_Silent_p.V576V	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	576					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	p.V576V(2)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CTTGCATCATCACATTGTCAA	0.473000													59	96					1.80625e-27	2.60202e-27	0.003610	1	0
CXorf22	170063	broad.mit.edu	37	X	35974187	35974187	+	Silent	SNP	A	A	G			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chrX:35974187A>G	ENST00000297866.5	+	8	1350	c.1284A>G	c.(1282-1284)gaA>gaG	p.E428E		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	428								p.E428E(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TCATGGGTGAACGTTCAGAAA	0.363000													23	46					0	0	0.002780	0	0
FGFBP1	9982	broad.mit.edu	37	4	15938263	15938263	+	Translation_Start_Site	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr4:15938263G>T	ENST00000382333.1	-	0	287				FGFBP1_ENST00000259988.2_De_novo_Start_OutOfFrame	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1						cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						CATGGCTGCAGCTGGGCGTTC	0.557000													40	63					4.67007e-22	6.4566e-22	0.008740	1	0
KMT2D	8085	broad.mit.edu	37	12	49438031	49438031	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr12:49438031G>A	ENST00000301067.7	-	21	5139	c.5140C>T	c.(5140-5142)Cct>Tct	p.P1714S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.P1714S(1)|p.P1441S(1)									TGTGCAGCAGGCCCCTTTTTC	0.622000											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	31					0	0	0.004990	0	0
SCG3	29106	broad.mit.edu	37	15	51988120	51988120	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr15:51988120T>A	ENST00000220478.3	+	8	1320	c.917T>A	c.(916-918)cTg>cAg	p.L306Q	SCG3_ENST00000542355.2_Missense_Mutation_p.L74Q	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	306					platelet activation|platelet degranulation	extracellular region|stored secretory granule		p.L306Q(1)		breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		ATGAAAACACTGATTGACTTT	0.348000													51	247					0	0	0.003610	0	0
NEDD8	4738	broad.mit.edu	37	14	24687414	24687414	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr14:24687414C>T	ENST00000250495.5	-	3	260	c.74G>A	c.(73-75)cGa>cAa	p.R25Q	NEDD8_ENST00000524927.1_Missense_Mutation_p.R25Q|NEDD8-MDP1_ENST00000604306.1_5'UTR|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.R25Q	NM_006156.2	NP_006147.1			neural precursor cell expressed, developmentally down-regulated 8									p.R25Q(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5				GBM - Glioblastoma multiforme(265;0.0186)		CTCCTTGATTCGCTCCACCTT	0.517000													31	97					0	0	0.009535	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309948	89309948	+	RNA	SNP	T	T	G			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr2:89309948T>G	ENST00000493819.1	-	0	64																											GGGACCCTCATGTCCATGCTG	0.562000													33	99					0	0	0.006999	0	0
NLRP12	91662	broad.mit.edu	37	19	54314312	54314312	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr19:54314312C>T	ENST00000324134.6	-	3	769	c.601G>A	c.(601-603)Gag>Aag	p.E201K	NLRP12_ENST00000391772.1_Missense_Mutation_p.E201K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E201K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E201K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E201K|NLRP12_ENST00000351894.4_Missense_Mutation_p.E201K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E201K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E201K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	201					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.E201K(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCGTCTGGCTCAAAGAGGGTC	0.637000													40	106					0	0	0.013114	0	0
MST1R	4486	broad.mit.edu	37	3	49927404	49927404	+	Silent	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr3:49927404C>T	ENST00000296474.3	-	19	3927	c.3900G>A	c.(3898-3900)ctG>ctA	p.L1300L	MST1R_ENST00000344206.4_Silent_p.L1251L	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1300	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	p.L1300L(2)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GACCCTGGGCCAGGAAGTGGG	0.592000													28	73					0	0	0.012213	0	0
UTP23	84294	broad.mit.edu	37	8	117783936	117783936	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr8:117783936C>T	ENST00000309822.2	+	3	706	c.605C>T	c.(604-606)cCc>cTc	p.P202L	UTP23_ENST00000517820.1_Intron|UTP23_ENST00000520733.1_Intron|UTP23_ENST00000357148.3_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	202					rRNA processing	nucleolus		p.P202L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						ATAAGTGGTCCCAATCCTCTT	0.363000													18	51					0	0	0.007413	0	0
SH2B1	25970	broad.mit.edu	37	16	28877776	28877776	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr16:28877776G>T	ENST00000337120.5	+	1	3652	c.361G>T	c.(361-363)Ggc>Tgc	p.G121C	SH2B1_ENST00000322610.8_Missense_Mutation_p.G121C|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.G121C|SH2B1_ENST00000395532.4_Missense_Mutation_p.G121C	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	121	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.G121C(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GGCTGTGCTGGGCCCTTCTCG	0.632000													20	55					8.34094e-07	9.44084e-07	0.008871	1	0
TRBV6-8	28599	broad.mit.edu	37	7	142124388	142124388	+	RNA	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr7:142124388G>T	ENST00000390376.2	-	0	89																											TCTTCAGGATGTGGAATTTTG	0.522000													30	116					3.73148e-12	4.63063e-12	0.007291	1	0
GABRR1	2569	broad.mit.edu	37	6	89907932	89907932	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr6:89907932A>G	ENST00000435811.1	-	4	782	c.328T>C	c.(328-330)Tac>Cac	p.Y110H	GABRR1_ENST00000454853.2_Missense_Mutation_p.Y127H|GABRR1_ENST00000369451.3_Missense_Mutation_p.Y40H	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	127					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.Y121H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TCCTTCCAGTAGTGCCTCAGG	0.537000													94	324					0	0	0.003610	0	0
PVRL1	5818	broad.mit.edu	37	11	119547916	119547916	+	Silent	SNP	T	T	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr11:119547916T>C	ENST00000264025.3	-	4	1277	c.747A>G	c.(745-747)gtA>gtG	p.V249V	PVRL1_ENST00000341398.2_Silent_p.V249V|PVRL1_ENST00000340882.2_Silent_p.V249V|PVRL1_ENST00000524510.1_5'UTR	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	249	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.V249V(3)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCTCAATGGTTACCTCAGGCT	0.552000													22	105					0	0	0.003330	0	0
SEC23A	10484	broad.mit.edu	37	14	39530984	39530984	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr14:39530984G>A	ENST00000537403.1	-	9	2086	c.884C>T	c.(883-885)aCc>aTc	p.T295I	SEC23A_ENST00000536508.1_Missense_Mutation_p.T371I|SEC23A_ENST00000545328.2_Missense_Mutation_p.T468I|SEC23A_ENST00000307712.6_Missense_Mutation_p.T497I			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	497					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	p.T497I(1)		kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AGCAATGGTGGTCACTCGGAT	0.428000													15	85					0	0	0.007413	0	0
PREPL	9581	broad.mit.edu	37	2	44565618	44565618	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr2:44565618T>C	ENST00000541738.1	-	7	1146	c.760A>G	c.(760-762)Atg>Gtg	p.M254V	PREPL_ENST00000378511.3_Intron|PREPL_ENST00000410081.1_Missense_Mutation_p.M343V|PREPL_ENST00000409936.1_Missense_Mutation_p.M343V|PREPL_ENST00000260648.6_Missense_Mutation_p.M343V|PREPL_ENST00000409957.1_Missense_Mutation_p.M254V|PREPL_ENST00000409411.1_Missense_Mutation_p.M254V|PREPL_ENST00000409272.1_Missense_Mutation_p.M343V|PREPL_ENST00000378520.3_Missense_Mutation_p.M343V	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	343					proteolysis	cytosol	serine-type endopeptidase activity	p.M343V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTTCTCTTCATTGTAAAAAAT	0.358000													12	29					0	0	0.001855	0	0
CDC73	79577	broad.mit.edu	37	1	193099332	193099332	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr1:193099332C>G	ENST00000367435.3	+	3	450	c.266C>G	c.(265-267)cCt>cGt	p.P89R		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	89					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	p.P89L(1)|p.P89R(1)		breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						GTTAGAAGACCTGATCGAAAA	0.299000													13	40					0	0	0.002450	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													4	133					0	0	0.001984	0	0
CNTN1	1272	broad.mit.edu	37	12	41387065	41387065	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr12:41387065G>T	ENST00000551295.2	+	17	2224	c.2107G>T	c.(2107-2109)Ggt>Tgt	p.G703C	CNTN1_ENST00000348761.2_Missense_Mutation_p.G692C|CNTN1_ENST00000347616.1_Missense_Mutation_p.G703C	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	703					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.G703C(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TAAAACAGACGGTGCTGGTAT	0.368000													5	31					2.0095e-06	2.2376e-06	0.001984	1	0
TLL1	7092	broad.mit.edu	37	4	166996110	166996110	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr4:166996110C>T	ENST00000061240.2	+	17	2916	c.2269C>T	c.(2269-2271)Cgt>Tgt	p.R757C	TLL1_ENST00000507499.1_Missense_Mutation_p.R780C	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	757	EGF-like 2; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R757C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GTGTCAATGCCGTAATGGATT	0.408000													28	123					0	0	0.006320	0	0
NOTCH2	4853	broad.mit.edu	37	1	120539844	120539844	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr1:120539844C>A	ENST00000256646.2	-	4	746	c.527G>T	c.(526-528)gGg>gTg	p.G176V	NOTCH2_ENST00000602566.1_Missense_Mutation_p.G137V	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	176	EGF-like 4.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.G176V(1)|p.G137V(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACATTTCTGCCCTGTGAAGCC	0.547000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				30	126					3.90053e-15	5.02193e-15	0.012213	1	0
GNAS	2778	broad.mit.edu	37	20	57430246	57430246	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr20:57430246G>A	ENST00000306120.3	+	1	1736	c.1736G>A	c.(1735-1737)cGg>cAg	p.R579Q	GNAS_ENST00000371099.2_Silent_p.A642A|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371100.4_Silent_p.A642A|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Silent_p.A642A|GNAS_ENST00000371075.3_Intron			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.A642A(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TACCCCTGGCGGAGAAGCGCA	0.592000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			3	16					0	0	0.004672	0	0
C17orf104	284071	broad.mit.edu	37	17	42745037	42745037	+	Silent	SNP	T	T	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr17:42745037T>C	ENST00000409122.2	+	5	1900	c.1758T>C	c.(1756-1758)aaT>aaC	p.N586N	C17orf104_ENST00000409464.1_Silent_p.N420N|C17orf104_ENST00000359945.3_Silent_p.N586N	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	586								p.N586N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						AGCAGCCAAATGGATTTTGTG	0.353000													10	21					0	0	0.006214	0	0
FLG	2312	broad.mit.edu	37	1	152281324	152281324	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr1:152281324G>C	ENST00000368799.1	-	3	6073	c.6038C>G	c.(6037-6039)tCa>tGa	p.S2013*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2013	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S2013*(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTCTGCTGACTGGAGCTG	0.557000									Ichthyosis				195	755					0	0	0.003610	0	0
HTR1E	3354	broad.mit.edu	37	6	87726137	87726137	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr6:87726137G>A	ENST00000305344.4	+	2	1788	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	HTR1E_ENST00000369584.1_Missense_Mutation_p.R362Q	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	362					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.R362Q(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	ATTAGATGCCGAGAGCATACT	0.413000													28	101					0	0	0.007291	0	0
OR4N4	283694	broad.mit.edu	37	15	22382965	22382965	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr15:22382965C>A	ENST00000328795.4	+	1	584	c.493C>A	c.(493-495)Cgc>Agc	p.R165S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R165S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCTCATCCTCCGCTTGCCTTT	0.517000													19	317					1.96292e-10	2.35094e-10	0.010504	1	0
FAM47B	170062	broad.mit.edu	37	X	34961502	34961502	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chrX:34961502G>C	ENST00000329357.5	+	1	590	c.554G>C	c.(553-555)gGg>gCg	p.G185A		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	185								p.G185A(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TATCCCTGTGGGGAATCCTGC	0.642000													6	17					0	0	0.004482	0	0
P2RY1	5028	broad.mit.edu	37	3	152553711	152553711	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr3:152553711C>T	ENST00000305097.3	+	1	976	c.140C>T	c.(139-141)aCg>aTg	p.T47M		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	47					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.T47M(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TTGACCAAGACGGGCTTCCAG	0.597000													33	151					0	0	0.003755	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			6	8					0.00198382	0.00209573	0.001984	1	0
ATP8A2	51761	broad.mit.edu	37	13	26116057	26116057	+	Splice_Site	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr13:26116057G>A	ENST00000381655.2	+	9	794	c.651_splice	c.e9-1	p.G218_splice	ATP8A2_ENST00000255283.8_Splice_Site_p.G178_splice	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	178					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.G218S(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AATCTTTTAGGGTTTGAGTCA	0.423000													15	98					0	0	0.004990	0	0
ANGPT2	285	broad.mit.edu	37	8	6378821	6378821	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr8:6378821A>T	ENST00000325203.5	-	4	1151	c.677T>A	c.(676-678)aTc>aAc	p.I226N	ANGPT2_ENST00000523120.1_Missense_Mutation_p.I226N|ANGPT2_ENST00000338312.6_Missense_Mutation_p.I174N|ANGPT2_ENST00000415216.1_Missense_Mutation_p.I226N|MCPH1_ENST00000344683.5_Intron			O15123	ANGP2_HUMAN	angiopoietin 2	226					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding	p.I226N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TTCTTCAATGATGGAATTTTG	0.373000													32	116					0	0	0.012213	0	0
NHS	4810	broad.mit.edu	37	X	17745407	17745407	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chrX:17745407T>C	ENST00000380060.3	+	6	3456	c.3118T>C	c.(3118-3120)Tcc>Ccc	p.S1040P	NHS_ENST00000398097.3_Missense_Mutation_p.S884P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1040						nucleus		p.S884P(1)|p.S1040P(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGAAAGAAAATCCTCACTACA	0.423000													3	109					0	0	0.009096	0	0
ZNF213	7760	broad.mit.edu	37	16	3187321	3187321	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr16:3187321G>A	ENST00000396878.3	+	2	515	c.40G>A	c.(40-42)Gag>Aag	p.E14K	ZNF213_ENST00000576416.1_Missense_Mutation_p.E14K|ZNF213_ENST00000574902.1_Missense_Mutation_p.E14K	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	14					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E14K(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GGCCCCTGGGGAGGGAGAAGG	0.622000													27	92					0	0	0.008361	0	0
TOX2	84969	broad.mit.edu	37	20	42574596	42574596	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr20:42574596G>T	ENST00000358131.5	+	1	252	c.44G>T	c.(43-45)cGc>cTc	p.R15L	TOX2_ENST00000423191.1_Intron|TOX2_ENST00000372999.1_Intron|TOX2_ENST00000341197.3_Intron	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R15L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GCGTTCTCTCGCTGCCTGGGC	0.542000													16	42					4.35082e-09	5.12153e-09	0.010504	1	0
HOXC12	3228	broad.mit.edu	37	12	54350298	54350298	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr12:54350298G>A	ENST00000243103.3	+	2	893	c.797G>A	c.(796-798)aGa>aAa	p.R266K		NM_173860.1	NP_776272.1	P31275	HXC12_HUMAN	homeobox C12	266					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R266K(1)		large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	12						CAGAACCGGAGAATGAAAAAG	0.532000													6	273					0	0	0.003080	0	0
LRTM1	57408	broad.mit.edu	37	3	54958983	54958983	+	Silent	SNP	C	C	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr3:54958983C>A	ENST00000273286.5	-	2	429	c.267G>T	c.(265-267)ctG>ctT	p.L89L	CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Silent_p.L13L|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	89						integral to membrane		p.L89L(2)		breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CTCCAGGGGCCAGATTTGAAA	0.443000													10	45					5.50884e-06	6.03628e-06	0.001368	1	0
MED1	5469	broad.mit.edu	37	17	37564483	37564483	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr17:37564483C>A	ENST00000300651.6	-	17	4214	c.3991G>T	c.(3991-3993)Gtg>Ttg	p.V1331L	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1331	Interaction with TP53.|Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.V1331L(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTTGTGCTCACCCCCATCTGG	0.493000										HNSCC(31;0.082)			43	156					1.06522e-23	1.50298e-23	0.013114	1	0
RBM10	8241	broad.mit.edu	37	X	47032557	47032557	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chrX:47032557C>T	ENST00000377604.3	+	5	1205	c.463C>T	c.(463-465)Caa>Taa	p.Q155*	RBM10_ENST00000345781.6_Nonsense_Mutation_p.Q78*|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Nonsense_Mutation_p.Q78*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	155	RRM 1.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	p.Q155*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GCACGGCGTGCAAGCACGGGA	0.602000													9	28					0	0	0.008291	0	0
KLRC2	3822	broad.mit.edu	37	12	10588481	10588481	+	Silent	SNP	T	T	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr12:10588481T>C	ENST00000381902.2	-	1	111	c.105A>G	c.(103-105)gaA>gaG	p.E35E	KLRC2_ENST00000536833.2_Intron|KLRC2_ENST00000381901.1_Silent_p.E35E|NKG2-E_ENST00000539033.1_Silent_p.E35E	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	35					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity	p.E35E(1)		kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						ATATTTCCTGTTCGGTTCCTG	0.378000													10	164					0	0	0.004007	0	0
PCDH17	27253	broad.mit.edu	37	13	58207613	58207613	+	Silent	SNP	T	T	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr13:58207613T>C	ENST00000377918.3	+	1	959	c.933T>C	c.(931-933)taT>taC	p.Y311Y		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	311	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.Y311Y(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATCTGGACTATGAGGAAAACG	0.587000													19	75					0	0	0.007413	0	0
PTBP2	58155	broad.mit.edu	37	1	97278882	97278882	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr1:97278882A>C	ENST00000236228.6	+	14	1602	c.1520A>C	c.(1519-1521)cAg>cCg	p.Q507P	PTBP2_ENST00000426398.2_Missense_Mutation_p.Q506P|PTBP2_ENST00000394184.3_Missense_Mutation_p.Q523P|PTBP2_ENST00000370197.1_Missense_Mutation_p.Q512P|PTBP2_ENST00000370198.1_Missense_Mutation_p.Q511P|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000541987.1_3'UTR	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	506	RRM 4.						nucleotide binding	p.Q506P(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		GAAGCTATTCAGGCCTTGATT	0.348000													19	50					0	0	0.010504	0	0
SELM	140606	broad.mit.edu	37	22	31501067	31501067	+	Silent	SNP	C	C	G			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr22:31501067C>G	ENST00000402395.1	-	7	744	c.327G>C	c.(325-327)gtG>gtC	p.V109V	RP3-412A9.11_ENST00000400299.2_Silent_p.V109V|RP3-412A9.11_ENST00000465536.1_5'UTR														p.V109V(1)									CGAGCTCCTGCACTAGCGCAT	0.692000													23	78					0	0	0.009535	0	0
LAMA1	284217	broad.mit.edu	37	18	7036072	7036072	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr18:7036072C>T	ENST00000389658.3	-	13	1846	c.1753G>A	c.(1753-1755)Gga>Aga	p.G585R		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	585	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.G585R(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCAGGAATCCGCCAAACGCA	0.458000													10	43					0	0	0.001368	0	0
MUC16	94025	broad.mit.edu	37	19	9088208	9088208	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr19:9088208G>C	ENST00000397910.4	-	1	3810	c.3607C>G	c.(3607-3609)Cca>Gca	p.P1203A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1203	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P1203A(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATATTACTTGGTGTCAAGGAA	0.478000													84	270					0	0	0.003610	0	0
SLC17A6	57084	broad.mit.edu	37	11	22363306	22363306	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr11:22363306G>T	ENST00000263160.3	+	2	756	c.319G>T	c.(319-321)Ggg>Tgg	p.G107W		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	107					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.G107W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CATCCACCGCGGGGGCAAGGT	0.632000													21	83					3.73808e-20	5.03297e-20	0.005443	1	0
SNX13	23161	broad.mit.edu	37	7	17885294	17885294	+	Silent	SNP	T	T	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr7:17885294T>A	ENST00000409389.1	-	12	1261	c.1089A>T	c.(1087-1089)gcA>gcT	p.A363A	SNX13_ENST00000428135.3_Silent_p.A363A			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	363					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	p.A363A(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CAAAGTTTGCTGCAAGTTTCA	0.313000													6	9					0	0	0.001168	0	0
RGAG1	57529	broad.mit.edu	37	X	109696066	109696066	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chrX:109696066G>T	ENST00000465301.2	+	3	2467	c.2221G>T	c.(2221-2223)Gct>Tct	p.A741S	RGAG1_ENST00000540313.1_Missense_Mutation_p.A741S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	741								p.A741S(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						GTCCATGACCGCTGGAGGGAT	0.512000													37	68					1.49673e-21	2.02847e-21	0.006230	1	0
PIP	5304	broad.mit.edu	37	7	142836664	142836664	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr7:142836664C>A	ENST00000291009.3	+	4	410	c.370C>A	c.(370-372)Cct>Act	p.P124T		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	124						extracellular region	actin binding	p.P124T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		AGGCATCTGCCCTGATGATGC	0.468000													66	272					1.37693e-34	2.01169e-34	0.003610	1	0
GLUD1	2746	broad.mit.edu	37	10	88819956	88819956	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr10:88819956C>G	ENST00000277865.4	-	9	1336	c.1240G>C	c.(1240-1242)Gac>Cac	p.D414H	GLUD1_ENST00000544149.1_Missense_Mutation_p.D281H|GLUD1_ENST00000537649.1_Missense_Mutation_p.D247H	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	414					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	p.D414H(1)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	AAGATCTTGTCAGCTTCTGGA	0.408000													19	114					0	0	0.012319	0	0
OR4K2	390431	broad.mit.edu	37	14	20345046	20345046	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr14:20345046C>A	ENST00000298642.2	+	1	656	c.620C>A	c.(619-621)gCg>gAg	p.A207E		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A207V(1)|p.A207E(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCATAATTGCGTTGTCCTGT	0.398000													34	362					3.86903e-22	5.38527e-22	0.002836	1	0
MCF2	4168	broad.mit.edu	37	X	138687138	138687138	+	Nonsense_Mutation	SNP	A	A	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chrX:138687138A>C	ENST00000520602.1	-	17	2028	c.1743T>G	c.(1741-1743)taT>taG	p.Y581*	MCF2_ENST00000414978.1_Nonsense_Mutation_p.Y581*|MCF2_ENST00000519895.1_Nonsense_Mutation_p.Y597*|MCF2_ENST00000536274.1_Nonsense_Mutation_p.Y482*|MCF2_ENST00000370578.4_Nonsense_Mutation_p.Y666*|MCF2_ENST00000338585.6_Nonsense_Mutation_p.Y537*|MCF2_ENST00000370573.4_Nonsense_Mutation_p.Y521*|MCF2_ENST00000370576.4_Nonsense_Mutation_p.Y521*			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	521	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	p.Y521*(2)|p.Y597*(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCTCCGCTCTATAACCCTACC	0.353000													20	23					0	0	0.010504	0	0
FLG	2312	broad.mit.edu	37	1	152279982	152279982	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr1:152279982G>T	ENST00000368799.1	-	3	7415	c.7380C>A	c.(7378-7380)gaC>gaA	p.D2460E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2460	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.D2460E(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGAATGGTGTCCTGACCCT	0.587000									Ichthyosis				129	580					2.3678e-45	3.48404e-45	0.003610	1	0
MMP11	4320	broad.mit.edu	37	22	24122621	24122621	+	Silent	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr22:24122621C>T	ENST00000215743.3	+	3	466	c.414C>T	c.(412-414)agC>agT	p.S138S	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	138					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.S138S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				AGGTATGGAGCGATGTGACGC	0.627000													21	70					0	0	0.002299	0	0
KLRC3	3823	broad.mit.edu	37	12	10573032	10573032	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr12:10573032G>A	ENST00000396439.2	-	1	162	c.118C>T	c.(118-120)Caa>Taa	p.Q40*	KLRC3_ENST00000381903.2_Nonsense_Mutation_p.Q40*|NKG2-E_ENST00000539033.1_Intron|KLRC3_ENST00000381904.2_Nonsense_Mutation_p.Q40*	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3									p.Q40*(1)		large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						AATTCTACTTGGAATATTTCC	0.368000													15	77					0	0	0.012319	0	0
WDR7	23335	broad.mit.edu	37	18	54398770	54398770	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr18:54398770C>T	ENST00000254442.3	+	14	2142	c.1931C>T	c.(1930-1932)gCc>gTc	p.A644V	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.A644V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	644								p.A644V(1)|p.A644G(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AAAAATATGGCCCATCATAAG	0.443000													4	109					0	0	0.009096	0	0
TTI2	80185	broad.mit.edu	37	8	33361291	33361291	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr8:33361291T>C	ENST00000431156.2	-	5	1708	c.1090A>G	c.(1090-1092)Aga>Gga	p.R364G	TTI2_ENST00000519356.1_5'UTR|TTI2_ENST00000360742.5_Missense_Mutation_p.R364G|TTI2_ENST00000520636.1_Missense_Mutation_p.R333G	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN	TELO2 interacting protein 2	364							binding	p.R364G(1)									GGCAGGTTTCTTGCGTAGGTC	0.517000													9	30					0	0	0.006214	0	0
C20orf166	128826	broad.mit.edu	37	20	61150822	61150822	+	Silent	SNP	C	C	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr20:61150822C>A	ENST00000370524.2	+	2	737	c.16C>A	c.(16-18)Cgg>Agg	p.R6R	C20orf166_ENST00000370527.3_5'UTR|C20orf166_ENST00000370523.1_Silent_p.R6R			Q9H1L0	CT166_HUMAN	chromosome 20 open reading frame 166	0										endometrium(1)|kidney(1)|lung(2)	4	Breast(26;1.04e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)			TACGGGGTCCCGGGAGGCAGC	0.622000													12	44					5.50884e-06	6.03628e-06	0.001368	1	0
RYR1	6261	broad.mit.edu	37	19	38985136	38985136	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr19:38985136G>T	ENST00000355481.4	+	39	6550	c.6419G>T	c.(6418-6420)cGg>cTg	p.R2140L	RYR1_ENST00000359596.3_Missense_Mutation_p.R2140L|RYR1_ENST00000360985.3_Missense_Mutation_p.R2140L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2140	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2140Q(1)|p.R2140L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCCCTGCCGCGGGCGTACACC	0.672000													13	55					3.99206e-14	5.07632e-14	0.007413	1	0
CCDC91	55297	broad.mit.edu	37	12	28459852	28459852	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr12:28459852G>T	ENST00000545336.1	+	8	864	c.445G>T	c.(445-447)Gaa>Taa	p.E149*	CCDC91_ENST00000381256.1_Nonsense_Mutation_p.E149*|CCDC91_ENST00000381259.1_Nonsense_Mutation_p.E149*|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000539107.1_Nonsense_Mutation_p.E149*|CCDC91_ENST00000306172.5_Nonsense_Mutation_p.E119*			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	149					protein transport	Golgi apparatus|membrane		p.E149*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					CAAAGTATCTGAAGAAGAAAA	0.313000													8	10					1.12685e-05	1.22174e-05	0.004482	1	0
MCCC2	64087	broad.mit.edu	37	5	70898367	70898367	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr5:70898367G>A	ENST00000340941.6	+	5	547	c.418G>A	c.(418-420)Gtc>Atc	p.V140I	MCCC2_ENST00000323375.8_Missense_Mutation_p.V140I|MCCC2_ENST00000509358.2_Missense_Mutation_p.V140I|MCCC2_ENST00000510895.2_3'UTR	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	140	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	p.V140I(1)		endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	TGATGCCACCGTCAAAGGAGG	0.413000													30	123					0	0	0.003755	0	0
GMPR	2766	broad.mit.edu	37	6	16254908	16254908	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr6:16254908A>T	ENST00000259727.4	+	4	521	c.407A>T	c.(406-408)gAa>gTa	p.E136V		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	136					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding	p.E136V(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GGGTATTCAGAACATTTTGTG	0.443000													52	195					0	0	0.003610	0	0
BRSK1	84446	broad.mit.edu	37	19	55814152	55814152	+	Silent	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr19:55814152G>A	ENST00000309383.1	+	10	1222	c.945G>A	c.(943-945)ctG>ctA	p.L315L	BRSK1_ENST00000590333.1_Silent_p.L331L|BRSK1_ENST00000326848.7_Silent_p.L10L|BRSK1_ENST00000585418.1_Silent_p.L315L	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	315	UBA.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.L315L(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		ACGGAGAGCTGGACCCCGACG	0.667000													29	96					0	0	0.004289	0	0
MUC16	94025	broad.mit.edu	37	19	9045932	9045932	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr19:9045932G>A	ENST00000397910.4	-	5	35902	c.35699C>T	c.(35698-35700)tCt>tTt	p.S11900F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11902	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S11900F(1)|p.S7533F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAAGCCCAGAGACAGCAGG	0.502000													35	162					0	0	0.004289	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125555898	125555898	+	Splice_Site	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr2:125555898G>T	ENST00000431078.1	+	19	3578		c.e19+1			NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5						cell adhesion|signal transduction	integral to membrane	receptor binding	p.G1072V(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGCAAGAATGGTGAGTGTGAT	0.502000													15	42					0.000219431	0.000235432	0.002450	1	0
IRAK3	11213	broad.mit.edu	37	12	66638373	66638373	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr12:66638373G>C	ENST00000261233.4	+	9	1416	c.995G>C	c.(994-996)aGc>aCc	p.S332T	IRAK3_ENST00000457197.2_Missense_Mutation_p.S271T	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	332	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	p.S332T(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AATATGACCAGCAGCAGCAGT	0.428000													4	154					0	0	0.001168	0	0
PRMT2	3275	broad.mit.edu	37	21	48068529	48068529	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr21:48068529G>A	ENST00000397637.1	+	5	1441	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	PRMT2_ENST00000291705.6_Missense_Mutation_p.A163T|PRMT2_ENST00000397638.2_Missense_Mutation_p.A163T|PRMT2_ENST00000355680.3_Missense_Mutation_p.A163T|PRMT2_ENST00000440086.1_Missense_Mutation_p.A163T|PRMT2_ENST00000397628.1_Missense_Mutation_p.A163T|PRMT2_ENST00000334494.4_Missense_Mutation_p.A163T|PRMT2_ENST00000491389.1_3'UTR|PRMT2_ENST00000458387.2_Missense_Mutation_p.A163T|PRMT2_ENST00000451211.2_Missense_Mutation_p.A163T			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	163	Interaction with ESR1.|Interaction with RB1 (By similarity).				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity	p.A163T(2)		NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		GCGGCCTAGAGCGGTGAGTGG	0.587000													33	130					0	0	0.003271	0	0
TRANK1	9881	broad.mit.edu	37	3	36898996	36898996	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr3:36898996C>A	ENST00000429976.2	-	12	2332	c.2085G>T	c.(2083-2085)ttG>ttT	p.L695F	TRANK1_ENST00000428977.2_Missense_Mutation_p.L145F|TRANK1_ENST00000301807.6_Missense_Mutation_p.L145F			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	695					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.L145F(2)|p.L695F(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCTGCTGAATCAAAACTGTGA	0.552000													12	56					4.3838e-07	5.01702e-07	0.001855	1	0
TRMT12	55039	broad.mit.edu	37	8	125464025	125464025	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr8:125464025G>A	ENST00000328599.3	+	1	978	c.857G>A	c.(856-858)cGg>cAg	p.R286Q	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	286					tRNA processing		methyltransferase activity	p.R286Q(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GTAGCAGATCGGTGCCAAATA	0.483000													54	182					0	0	0.003610	0	0
FAAH	2166	broad.mit.edu	37	1	46867858	46867858	+	Silent	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr1:46867858C>T	ENST00000243167.8	+	2	375	c.291C>T	c.(289-291)ctC>ctT	p.L97L	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	97					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	p.L97L(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	AGGCCGTGCTCTTCACCTATG	0.632000													5	15					0	0	0.001168	0	0
MYO18B	84700	broad.mit.edu	37	22	26423541	26423541	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr22:26423541C>T	ENST00000335473.7	+	43	7851	c.7601C>T	c.(7600-7602)gCg>gTg	p.A2534V	MYO18B_ENST00000407587.2_Missense_Mutation_p.A2535V|MYO18B_ENST00000536101.1_Missense_Mutation_p.A2534V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2534						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.A2535V(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCACGACTTGCGGGTGACGGT	0.577000													15	41					0	0	0.004990	0	0
SLC35F1	222553	broad.mit.edu	37	6	118556737	118556737	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr6:118556737G>A	ENST00000360388.4	+	3	616	c.415G>A	c.(415-417)Gac>Aac	p.D139N		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	139					transport	integral to membrane		p.D139N(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		GGGACTCATAGACCTGGAAGC	0.423000													21	75					0	0	0.002299	0	0
LCP1	3936	broad.mit.edu	37	13	46718649	46718649	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr13:46718649G>T	ENST00000398576.2	-	14	1569	c.1181C>A	c.(1180-1182)aCg>aAg	p.T394K	LCP1_ENST00000323076.2_Missense_Mutation_p.T394K			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	394	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	p.T394K(1)		breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		CTCTTCTCTCGTCTCACCTAG	0.388000			T	BCL6	NHL								23	66					2.89027e-11	3.52305e-11	0.002299	1	0
KLRC3	3823	broad.mit.edu	37	12	10573045	10573045	+	Silent	SNP	T	T	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr12:10573045T>C	ENST00000396439.2	-	1	149	c.105A>G	c.(103-105)gaA>gaG	p.E35E	KLRC3_ENST00000381903.2_Silent_p.E35E|NKG2-E_ENST00000539033.1_Intron|KLRC3_ENST00000381904.2_Silent_p.E35E	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3									p.E35E(1)		large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						ATATTTCCTGTTCGGTTCCTG	0.378000													11	61					0	0	0.004007	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18637496	18637496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr11:18637496G>A	ENST00000336349.5	-	3	560	c.325C>T	c.(325-327)Cag>Tag	p.Q109*	SPTY2D1_ENST00000543776.1_5'UTR	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	109								p.Q109*(1)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TCTGTTGCCTGCCTCTTCTTT	0.448000													34	144					0	0	0.004878	0	0
MARK3	4140	broad.mit.edu	37	14	103932328	103932328	+	Nonsense_Mutation	SNP	T	T	G			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr14:103932328T>G	ENST00000429436.2	+	9	1307	c.797T>G	c.(796-798)tTa>tGa	p.L266*	MARK3_ENST00000561071.1_Intron|MARK3_ENST00000303622.9_Nonsense_Mutation_p.L266*|MARK3_ENST00000553942.1_Nonsense_Mutation_p.L266*|MARK3_ENST00000335102.5_Nonsense_Mutation_p.L289*|MARK3_ENST00000440884.3_Nonsense_Mutation_p.L187*|MARK3_ENST00000216288.7_Nonsense_Mutation_p.L266*|MARK3_ENST00000416682.2_Nonsense_Mutation_p.L289*	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	266	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.L266*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			GAGAGAGTATTAAGAGGGAAA	0.403000													33	53					0	0	0.002836	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160259617	160259617	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr4:160259617C>G	ENST00000264431.4	+	12	2226	c.1807C>G	c.(1807-1809)Cct>Gct	p.P603A		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	603					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	p.P591A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CAGTGCTACTCCTGGTGAGTA	0.363000													31	148					0	0	0.003755	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138199659	138199659	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr6:138199659C>A	ENST00000237289.4	+	7	1143	c.1077C>A	c.(1075-1077)aaC>aaA	p.N359K	TNFAIP3_ENST00000485192.1_3'UTR	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	359					anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GGCAGGAAAACAGCGAGCAGG	0.478000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								6	97					0.00448238	0.00471107	0.004482	1	0
EHBP1L1	254102	broad.mit.edu	37	11	65351973	65351973	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr11:65351973G>A	ENST00000309295.4	+	11	3533	c.3268G>A	c.(3268-3270)Gac>Aac	p.D1090N		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1090	CH.							p.D1090N(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGCCTCGCTAGACCCACTCAA	0.597000													11	23					0	0	0.001368	0	0
GCLC	2729	broad.mit.edu	37	6	53380938	53380938	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr6:53380938C>A	ENST00000229416.6	-	4	1012	c.529G>T	c.(529-531)Gat>Tat	p.D177Y	GCLC_ENST00000514004.1_Missense_Mutation_p.D177Y	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	177					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	p.D177Y(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	ATTGCTTCATCTGGAAAGAAG	0.473000													26	66					6.32553e-13	7.99423e-13	0.004656	1	0
ESRRG	2104	broad.mit.edu	37	1	216737685	216737685	+	Silent	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr1:216737685C>T	ENST00000391890.3	-	7	1207	c.690G>A	c.(688-690)ccG>ccA	p.P230P	ESRRG_ENST00000408911.3_Silent_p.P246P|ESRRG_ENST00000487276.1_Silent_p.P223P|ESRRG_ENST00000359162.2_Silent_p.P223P|ESRRG_ENST00000366940.2_Silent_p.P223P|ESRRG_ENST00000366938.2_Silent_p.P223P|ESRRG_ENST00000360012.3_Silent_p.P223P|ESRRG_ENST00000361395.2_Silent_p.P223P|ESRRG_ENST00000463665.1_Silent_p.P184P|ESRRG_ENST00000361525.3_Silent_p.P223P|ESRRG_ENST00000493748.1_Silent_p.P223P|ESRRG_ENST00000493603.1_Silent_p.P223P|ESRRG_ENST00000366937.1_Silent_p.P258P	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	246					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.P246P(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	AGATCTTCTCCGGTTCAGCCA	0.478000													15	51					0	0	0.003163	0	0
SGCZ	137868	broad.mit.edu	37	8	13948039	13948039	+	Silent	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr8:13948039G>A	ENST00000382080.1	-	8	1567	c.852C>T	c.(850-852)tgC>tgT	p.C284C	SGCZ_ENST00000421524.2_Silent_p.C237C	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	271					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.C284C(2)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TGGGGCAGACGCAGAGTTCAT	0.483000													19	81					0	0	0.008871	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87446014	87446014	+	Silent	SNP	A	A	G			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr16:87446014A>G	ENST00000268616.4	-	12	2119	c.1902T>C	c.(1900-1902)cgT>cgC	p.R634R		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	634					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	p.R634R(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TGATGGGCGGACGGGCGGCGT	0.607000													33	193					0	0	0.004878	0	0
ADCY1	107	broad.mit.edu	37	7	45614391	45614391	+	Silent	SNP	G	G	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr7:45614391G>C	ENST00000297323.7	+	1	271	c.249G>C	c.(247-249)gcG>gcC	p.A83A	ADCY1_ENST00000432715.1_Intron	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	83					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.A83A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGCTgggcgcgccggggcccg	0.751000													6	13					0	0	0.001984	0	0
DPP10	57628	broad.mit.edu	37	2	116593780	116593780	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr2:116593780G>C	ENST00000410059.1	+	22	2478	c.1998G>C	c.(1996-1998)aaG>aaC	p.K666N	DPP10_ENST00000393147.2_Missense_Mutation_p.K670N|DPP10_ENST00000409163.1_Missense_Mutation_p.K616N|DPP10_ENST00000310323.8_Missense_Mutation_p.K659N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	666					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.K659N(1)|p.K666N(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CAGATGAAAAGCTTTTTAAAT	0.338000													7	35					0	0	0.004482	0	0
MICAL2	9645	broad.mit.edu	37	11	12281439	12281439	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr11:12281439C>T	ENST00000256194.4	+	26	3617	c.3329C>T	c.(3328-3330)cCc>cTc	p.P1110L	MICAL2_ENST00000379612.3_Missense_Mutation_p.P884L|MICAL2_ENST00000342902.5_Missense_Mutation_p.P1089L|MICAL2_ENST00000537344.1_Missense_Mutation_p.P920L|MICAL2_ENST00000527546.1_Missense_Mutation_p.P920L	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1110			P -> S (in dbSNP:rs35518829).			cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.P1110L(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GAAGGCAGCCCCCCAGGTATC	0.622000													5	37					0	0	0.006214	0	0
KCNN1	3780	broad.mit.edu	37	19	18096157	18096157	+	RNA	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr19:18096157G>A	ENST00000601725.1	+	0	589																		p.L335L(2)									GCAACTTCCTGGGGGCCATGT	0.592000													7	24					0	0	0.001984	0	0
NCAPD3	23310	broad.mit.edu	37	11	134062761	134062761	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr11:134062761C>A	ENST00000534548.2	-	16	1932	c.1868G>T	c.(1867-1869)gGg>gTg	p.G623V		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	623					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.G623V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CGGGACCACCCCCCGCAACCA	0.547000													35	100					2.40579e-17	3.17688e-17	0.006230	1	0
ZSCAN4	201516	broad.mit.edu	37	19	58190033	58190033	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr19:58190033C>A	ENST00000318203.5	+	5	1759	c.1062C>A	c.(1060-1062)gaC>gaA	p.D354E		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	354					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D354E(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGATATCAGACCTACGGGTGC	0.443000													38	116					7.04047e-22	9.66892e-22	0.005524	1	0
RAB36	9609	broad.mit.edu	37	22	23495307	23495307	+	Silent	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr22:23495307C>T	ENST00000263116.2	+	5	553	c.513C>T	c.(511-513)ccC>ccT	p.P171P	RAB36_ENST00000341989.4_Silent_p.P149P	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	171					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	p.P171P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		CTGGGATTCCCTATAGCCTCC	0.507000													49	191					0	0	0.003610	0	0
TOPBP1	11073	broad.mit.edu	37	3	133362940	133362940	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr3:133362940G>A	ENST00000260810.5	-	11	1903	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	TOPBP1_ENST00000511439.1_Intron	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	591	BRCT 4.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	p.A504V(1)|p.A591V(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AGCATAATCCGCAACAGTTCT	0.413000								Other conserved DNA damage response genes					7	37					0	0	0.003080	0	0
AUTS2	26053	broad.mit.edu	37	7	70254903	70254903	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr7:70254903C>T	ENST00000342771.4	+	19	3022	c.2701C>T	c.(2701-2703)Cgc>Tgc	p.R901C	AUTS2_ENST00000406775.2_Missense_Mutation_p.R877C	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	901								p.R901C(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CTCGGAATCCCGCAAGGACCT	0.647000													8	37					0	0	0.008291	0	0
PTPN23	25930	broad.mit.edu	37	3	47451187	47451187	+	Silent	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr3:47451187C>T	ENST00000265562.4	+	19	2069	c.1992C>T	c.(1990-1992)gcC>gcT	p.A664A	PTPN23_ENST00000431726.1_Silent_p.A538A	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	664					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	p.A664A(1)		breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGTATGAAGCCTATGAGGACC	0.632000													9	25					0	0	0.006214	0	0
TRPM3	80036	broad.mit.edu	37	9	73225623	73225623	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr9:73225623C>T	ENST00000377110.2	-	18	2776	c.2533G>A	c.(2533-2535)Gat>Aat	p.D845N	TRPM3_ENST00000377111.2_Missense_Mutation_p.D845N|TRPM3_ENST00000377106.1_Missense_Mutation_p.D717N|TRPM3_ENST00000396280.5_Missense_Mutation_p.D694N|TRPM3_ENST00000408909.2_Missense_Mutation_p.D704N|TRPM3_ENST00000360823.2_Missense_Mutation_p.D707N|TRPM3_ENST00000423814.3_Missense_Mutation_p.D872N|TRPM3_ENST00000396292.4_Missense_Mutation_p.D717N|TRPM3_ENST00000358082.3_Missense_Mutation_p.D707N|TRPM3_ENST00000377105.1_Missense_Mutation_p.D704N|TRPM3_ENST00000396285.1_Missense_Mutation_p.D692N|TRPM3_ENST00000357533.2_Missense_Mutation_p.D849N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	870						integral to membrane	calcium channel activity	p.D845N(1)|p.D849N(1)|p.D717N(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TCCTCTTCATCCTTCTTCCTG	0.473000													26	141					0	0	0.008361	0	0
TMEM132D	121256	broad.mit.edu	37	12	129563191	129563191	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr12:129563191A>T	ENST00000422113.2	-	8	2329	c.2003T>A	c.(2002-2004)cTc>cAc	p.L668H	TMEM132D_ENST00000389441.4_Missense_Mutation_p.L206H	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	668						integral to membrane		p.L668H(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTGCACCCCGAGGTCTGTGAT	0.577000													35	162					0	0	0.004878	0	0
GET4	51608	broad.mit.edu	37	7	931971	931971	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr7:931971A>T	ENST00000407192.1	+	5	3020	c.503A>T	c.(502-504)cAg>cTg	p.Q168L	GET4_ENST00000265857.3_Missense_Mutation_p.Q221L			Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	221					tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding	p.Q221L(1)		breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACGTACACCCAGAAGCACCCG	0.552000													35	119					0	0	0.004878	0	0
SETD6	79918	broad.mit.edu	37	16	58550115	58550115	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr16:58550115C>T	ENST00000394266.4	+	4	328	c.272C>T	c.(271-273)gCg>gTg	p.A91V	SETD6_ENST00000219315.4_Missense_Mutation_p.A115V|SETD6_ENST00000310682.2_Missense_Mutation_p.A91V|SETD6_ENST00000418480.1_3'UTR			Q8TBK2	SETD6_HUMAN	SET domain containing 6	115	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity	p.A91V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						GAGCGAGTTGCGCTGCAGAGC	0.771000													9	51					0	0	0.006214	0	0
FLT1	2321	broad.mit.edu	37	13	29001963	29001963	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr13:29001963C>T	ENST00000282397.4	-	9	1453	c.1202G>A	c.(1201-1203)gGg>gAg	p.G401E	FLT1_ENST00000539099.1_Missense_Mutation_p.G401E|FLT1_ENST00000541932.1_Missense_Mutation_p.G401E	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	401	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.G401E(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TGTATAATTCCCTGCATCCTC	0.398000													19	91					0	0	0.008871	0	0
FAM124B	79843	broad.mit.edu	37	2	225266048	225266048	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr2:225266048A>T	ENST00000389874.3	-	1	663	c.438T>A	c.(436-438)ttT>ttA	p.F146L	FAM124B_ENST00000409685.3_Missense_Mutation_p.F146L|FAM124B_ENST00000243806.2_Missense_Mutation_p.F146L	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	146							protein binding	p.F146L(2)		endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		CATAGTTATCAAAACTGCAGT	0.517000													35	107					0	0	0.012213	0	0
CCNF	899	broad.mit.edu	37	16	2481129	2481129	+	Splice_Site	SNP	A	A	T	rs111704404		TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr16:2481129A>T	ENST00000397066.4	+	2	104		c.e2-1			NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F						cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	p.?(2)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				TTTTTCCTTCAGTGGTCCACT	0.403000													57	227					0	0	0.003610	0	0
SLC4A5	57835	broad.mit.edu	37	2	74492357	74492357	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr2:74492357C>T	ENST00000394019.2	-	9	833	c.436G>A	c.(436-438)Ggc>Agc	p.G146S	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G82S|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G146S|SLC4A5_ENST00000377634.4_Missense_Mutation_p.G146S|SLC4A5_ENST00000358683.4_Missense_Mutation_p.G82S|SLC4A5_ENST00000357822.5_Missense_Mutation_p.G146S|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.G146S|SLC4A5_ENST00000423644.1_Missense_Mutation_p.G146S	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	146						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.G146S(2)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGCGTTCGCCGCCTTCCTCT	0.607000													30	126					0	0	0.007291	0	0
KIF4B	285643	broad.mit.edu	37	5	154396120	154396120	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr5:154396120A>T	ENST00000435029.4	+	1	2861	c.2701A>T	c.(2701-2703)Atg>Ttg	p.M901L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	901	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.M901L(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CATGCAGAAGATGCTATTTGA	0.438000													21	78					0	0	0.002780	0	0
VCAM1	7412	broad.mit.edu	37	1	101196962	101196962	+	Silent	SNP	C	C	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr1:101196962C>A	ENST00000294728.2	+	6	1514	c.1413C>A	c.(1411-1413)atC>atA	p.I471I	VCAM1_ENST00000370119.4_Silent_p.I409I|VCAM1_ENST00000347652.2_Silent_p.I379I|VCAM1_ENST00000370115.1_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	471	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.I471I(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TGACCTTCATCCCTACCATTG	0.383000													20	86					2.4624e-09	2.91525e-09	0.008871	1	0
ANKFN1	162282	broad.mit.edu	37	17	54554984	54554984	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr17:54554984G>C	ENST00000566473.2	+	15	1918	c.1918G>C	c.(1918-1920)Gtg>Ctg	p.V640L	ANKFN1_ENST00000318698.2_Missense_Mutation_p.V640L			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	640								p.V640L(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TCTCTGCCACGTGAAGATCCG	0.408000													52	200					0	0	0.003610	0	0
POTEM	641455	broad.mit.edu	37	14	20020054	20020054	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr14:20020054G>T	ENST00000551509.1	-	1	218	c.167C>A	c.(166-168)aCa>aAa	p.T56K		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	56								p.T56K(2)		endometrium(4)|kidney(1)|lung(4)	9						GCTCCTGAGTGTCTTCATAGC	0.612000													14	385					5.03518e-11	6.10146e-11	0.007413	1	0
AIRE	326	broad.mit.edu	37	21	45713696	45713696	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr21:45713696G>A	ENST00000291582.5	+	11	1430	c.1303G>A	c.(1303-1305)Ggg>Agg	p.G435R	AIRE_ENST00000355347.4_Missense_Mutation_p.G228R|AIRE_ENST00000329347.4_Silent_p.A200A	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	435					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	p.G238R(1)|p.G435R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		TGCGCGTTGCGGGGTGTGCGG	0.706000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				19	54					0	0	0.002780	0	0
CNTN5	53942	broad.mit.edu	37	11	99715850	99715850	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr11:99715850G>A	ENST00000524871.1	+	6	723	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K	CNTN5_ENST00000527185.1_Missense_Mutation_p.E145K|CNTN5_ENST00000279463.3_Missense_Mutation_p.E145K|CNTN5_ENST00000418526.2_Missense_Mutation_p.E71K|CNTN5_ENST00000528682.1_Missense_Mutation_p.E145K	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	145	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.E145K(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AATAGATCTGGAAAGTGATTA	0.368000													22	81					0	0	0.012319	0	0
RGAG1	57529	broad.mit.edu	37	X	109693957	109693957	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chrX:109693957G>C	ENST00000465301.2	+	3	358	c.112G>C	c.(112-114)Gac>Cac	p.D38H	RGAG1_ENST00000540313.1_Missense_Mutation_p.D38H	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	38								p.D38H(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						GACCAGAGCAGACGTACAGAT	0.463000											OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	81	119					0	0	0.003610	0	0
NVL	4931	broad.mit.edu	37	1	224424241	224424241	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr1:224424241G>A	ENST00000281701.6	-	20	2592	c.2333C>T	c.(2332-2334)gCa>gTa	p.A778V	NVL_ENST00000482491.1_Missense_Mutation_p.A502V|NVL_ENST00000340871.4_Missense_Mutation_p.A589V|NVL_ENST00000361463.3_3'UTR|NVL_ENST00000391875.2_Missense_Mutation_p.A672V|NVL_ENST00000469075.1_Missense_Mutation_p.A687V	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	778						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity	p.A778V(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		ACCAGCAATTGCTTCCAAATT	0.403000													33	155					0	0	0.005524	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													3	56					0	0	0.004672	0	0
POLB	5423	broad.mit.edu	37	8	42196548	42196548	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr8:42196548A>G	ENST00000265421.4	+	2	250	c.80A>G	c.(79-81)aAg>aGg	p.K27R	POLB_ENST00000530566.1_Intron|POLB_ENST00000538005.1_Intron	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	27					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding	p.K27R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	AACTTTGAGAAGAACGTGAGC	0.483000								DNA polymerases (catalytic subunits)					12	39					0	0	0.003163	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309947	89309947	+	RNA	SNP	A	A	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr2:89309947A>C	ENST00000493819.1	-	0	65																											GGGGACCCTCATGTCCATGCT	0.567000													33	98					0	0	0.006999	0	0
UBE2L6	9246	broad.mit.edu	37	11	57319895	57319895	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr11:57319895G>A	ENST00000340573.4	-	4	806	c.200C>T	c.(199-201)cCg>cTg	p.P67L	UBE2L6_ENST00000287156.4_Missense_Mutation_p.P133L	NM_198183.2	NP_937826.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	133					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity	p.P133L(1)		large_intestine(1)|lung(3)|ovary(1)	5						GAACAGCTCCGGATTCTGTGT	0.577000													73	272					0	0	0.003610	0	0
UTY	7404	broad.mit.edu	37	Y	15467250	15467250	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chrY:15467250C>G	ENST00000331397.4	-	15	2410	c.1403G>C	c.(1402-1404)cGa>cCa	p.R468P	UTY_ENST00000538878.1_Missense_Mutation_p.R435P|UTY_ENST00000540140.1_Missense_Mutation_p.R465P|UTY_ENST00000382896.4_Missense_Mutation_p.R513P|UTY_ENST00000362096.4_Missense_Mutation_p.R468P|UTY_ENST00000537580.1_Intron|UTY_ENST00000545955.1_Missense_Mutation_p.R543P|UTY_ENST00000329134.5_Missense_Mutation_p.R468P	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	468					chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.R468P(2)		kidney(1)|lung(6)	7						TCCAGTAGTTCGTACCTGAGC	0.383000													5	25					0	0	0.004482	0	0
MAPK8	5599	broad.mit.edu	37	10	49634457	49634457	+	Silent	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr10:49634457G>T	ENST00000374189.1	+	9	1087	c.906G>T	c.(904-906)ctG>ctT	p.L302L	MAPK8_ENST00000360332.3_Silent_p.L302L|MAPK8_ENST00000395611.3_Silent_p.L226L|MAPK8_ENST00000374182.3_Silent_p.L302L			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	302	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|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|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding	p.L302L(2)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		CCAAAATGCTGGTAATAGATG	0.358000													14	41					0.000422831	0.000448986	0.004007	1	0
SRSF2	6427	broad.mit.edu	37	17	74733003	74733003	+	Silent	SNP	C	C	G			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr17:74733003C>G	ENST00000392485.2	-	1	412	c.240G>C	c.(238-240)ctG>ctC	p.L80L	SRSF2_ENST00000359995.5_Silent_p.L80L|MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000591864.1_5'UTR|SRSF2_ENST00000508921.3_Silent_p.L80L|RP11-318A15.7_ENST00000587459.1_Intron	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	80	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	p.L80L(2)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CGCGGCCGTCCAGCACGGCCC	0.716000			Mis		"""MDS, CLL"""								6	28					0	0	0.004482	0	0
DCHS2	54798	broad.mit.edu	37	4	155241865	155241865	+	Silent	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr4:155241865G>T	ENST00000357232.3	-	14	3320	c.3321C>A	c.(3319-3321)atC>atA	p.I1107I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1107	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I1107I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGAGGGGTGGATGAGAAATG	0.443000													12	249					7.93312e-07	9.02886e-07	0.002450	1	0
IL3RA	3563	broad.mit.edu	37	X	1471347	1471347	+	Silent	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chrX:1471347C>T	ENST00000331035.4	+	6	913	c.564C>T	c.(562-564)agC>agT	p.S188S	IL3RA_ENST00000381469.2_Silent_p.S110S	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	188						integral to membrane|plasma membrane	interleukin-3 receptor activity	p.S188S(1)		lung(1)|skin(2)	3		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)			Sargramostim(DB00020)	GGGGCAGGAGCGCAGCCTTCG	0.552000													4	146					0	0	0.009096	0	0
BBOX1	8424	broad.mit.edu	37	11	27148881	27148881	+	Silent	SNP	C	C	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr11:27148881C>A	ENST00000263182.3	+	9	1413	c.1045C>A	c.(1045-1047)Cga>Aga	p.R349R	BBOX1_ENST00000525090.1_Silent_p.R349R|BBOX1_ENST00000529202.1_Silent_p.R349R|RP11-1L12.3_ENST00000530430.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000528583.1_Silent_p.R349R	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	349					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.R349R(1)		breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	ACTTCATGGCCGACGTAGCTA	0.408000													14	89					1.15088e-07	1.33191e-07	0.004007	1	0
OTX2	5015	broad.mit.edu	37	14	57268910	57268910	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr14:57268910G>T	ENST00000339475.5	-	5	713	c.437C>A	c.(436-438)tCa>tAa	p.S146*	OTX2_ENST00000555006.1_Nonsense_Mutation_p.S138*|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000408990.3_Nonsense_Mutation_p.S138*|OTX2_ENST00000554788.1_3'UTR	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	138					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	p.S146*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GGTCGGGACTGAGGTGCTAGA	0.542000													38	57					6.70999e-13	8.37732e-13	0.004289	1	0
OSBPL2	9885	broad.mit.edu	37	20	60861678	60861678	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr20:60861678G>A	ENST00000313733.3	+	11	1238	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	OSBPL2_ENST00000439951.2_Missense_Mutation_p.D254N|OSBPL2_ENST00000358053.2_Missense_Mutation_p.D334N	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	346					lipid transport		lipid binding	p.D346N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			CGTGGCTGACGACGTGCCTGT	0.652000													46	186					0	0	0.003610	0	0
SLC34A2	10568	broad.mit.edu	37	4	25674865	25674865	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr4:25674865C>A	ENST00000382051.3	+	10	1255	c.1205C>A	c.(1204-1206)aCc>aAc	p.T402N	SLC34A2_ENST00000503434.1_Missense_Mutation_p.T401N|SLC34A2_ENST00000504570.1_Missense_Mutation_p.T401N	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	402					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.T402N(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				ATCAAGAAGACCATCAACACT	0.537000			T	ROS1	NSCLC								26	51					1.37878e-21	1.88099e-21	0.003330	1	0
DTX3	196403	broad.mit.edu	37	12	58000753	58000753	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr12:58000753G>T	ENST00000548198.1	+	3	1611	c.107G>T	c.(106-108)cGg>cTg	p.R36L	DTX3_ENST00000337737.3_Missense_Mutation_p.R36L|DTX3_ENST00000551632.1_Missense_Mutation_p.R39L|DTX3_ENST00000548804.1_Missense_Mutation_p.R36L			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	36					Notch signaling pathway	cytoplasm	zinc ion binding	p.R36L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					ACCCCAGCCCGGCTGGCCCGG	0.597000													110	418					1.02947e-67	1.52569e-67	0.003610	1	0
TMEM168	64418	broad.mit.edu	37	7	112424368	112424368	+	Silent	SNP	A	A	G			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr7:112424368A>G	ENST00000312814.5	-	2	1073	c.513T>C	c.(511-513)acT>acC	p.T171T	TMEM168_ENST00000454074.1_Silent_p.T171T	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	171						integral to membrane|transport vesicle		p.T171T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CCACCAACATAGTTGTGCTGG	0.423000													23	47					0	0	0.002780	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													3	101					0	0	0.001168	0	0
DYRK1B	9149	broad.mit.edu	37	19	40317399	40317399	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr19:40317399C>A	ENST00000593685.1	-	9	1792	c.1324G>T	c.(1324-1326)Ggc>Tgc	p.G442C	DYRK1B_ENST00000323039.5_Missense_Mutation_p.G442C|DYRK1B_ENST00000430012.2_Missense_Mutation_p.G402C|DYRK1B_ENST00000348817.3_Missense_Mutation_p.G414C|DYRK1B_ENST00000597639.1_Missense_Mutation_p.G414C			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	442					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	p.G414C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CCTGCCGGGCCCGTGTTGGTG	0.721000													4	7					3.59834e-05	3.88093e-05	0.001168	1	0
FAM83B	222584	broad.mit.edu	37	6	54735197	54735197	+	Silent	SNP	A	A	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr6:54735197A>T	ENST00000306858.7	+	2	269	c.153A>T	c.(151-153)cgA>cgT	p.R51R		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	51								p.R51R(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCCAGGAACGAGTTTCAGACT	0.388000													25	99					0	0	0.004656	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													6	134					0	0	0.003080	0	0
PACS2	23241	broad.mit.edu	37	14	105860917	105860917	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr14:105860917G>T	ENST00000447393.1	+	24	2765	c.2590G>T	c.(2590-2592)Gac>Tac	p.D864Y	PACS2_ENST00000458164.2_Missense_Mutation_p.D875Y|PACS2_ENST00000430725.2_Missense_Mutation_p.D785Y|PACS2_ENST00000547217.1_Missense_Mutation_p.D830Y|PACS2_ENST00000325438.8_Missense_Mutation_p.D860Y|PACS2_ENST00000551801.1_Missense_Mutation_p.D61Y|PACS2_ENST00000551743.1_Missense_Mutation_p.D374Y	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	860					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		p.D860Y(1)		endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GGAGTGCAGCGACGTCAAGTT	0.672000													45	56					1.61004e-24	2.28736e-24	0.003610	1	0
MROH2B	133558	broad.mit.edu	37	5	41045927	41045927	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr5:41045927C>A	ENST00000399564.4	-	18	2207	c.1757G>T	c.(1756-1758)aGt>aTt	p.S586I	MROH2B_ENST00000506092.2_Missense_Mutation_p.S141I	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.S586I(1)									GGCCACATCACTGATCTTCCA	0.423000													28	105					1.06801e-11	1.31743e-11	0.009535	1	0
TTBK1	84630	broad.mit.edu	37	6	43250827	43250827	+	Silent	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr6:43250827G>T	ENST00000259750.4	+	14	2432	c.2349G>T	c.(2347-2349)ggG>ggT	p.G783G		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	783						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.G783G(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGGTGCTGGGGCCTCGTAGTG	0.627000													3	5					0.004672	0.00488544	0.004672	1	0
ZMYND15	84225	broad.mit.edu	37	17	4648196	4648196	+	Silent	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr17:4648196G>A	ENST00000433935.1	+	12	1926	c.1869G>A	c.(1867-1869)acG>acA	p.T623T	ZMYND15_ENST00000269289.6_Silent_p.T584T|ZMYND15_ENST00000592813.1_Silent_p.T584T|ZMYND15_ENST00000573751.2_Silent_p.T631T	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	584							zinc ion binding	p.T623T(1)|p.T584T(1)		endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						TCAAGGATACGTGGCTGAGGT	0.587000													31	143					0	0	0.002836	0	0
PDP2	57546	broad.mit.edu	37	16	66919297	66919297	+	Silent	SNP	C	C	G			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr16:66919297C>G	ENST00000311765.2	+	2	1444	c.1110C>G	c.(1108-1110)acC>acG	p.T370T	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	370					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	p.T370T(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GCTTCAATACCGAGGCCCTCA	0.577000													36	124					0	0	0.003755	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31655088	31655088	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr21:31655088G>T	ENST00000340345.4	-	1	188	c.163C>A	c.(163-165)Ctc>Atc	p.L55I		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	55						keratin filament	structural molecule activity	p.L55I(1)		breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AGGAGCCAGAGATTTCCTTGG	0.498000													43	113					1.95508e-11	2.3973e-11	0.003610	1	0
RSF1	51773	broad.mit.edu	37	11	77412022	77412022	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr11:77412022T>A	ENST00000308488.6	-	6	2554	c.2252A>T	c.(2251-2253)aAa>aTa	p.K751I	RSF1_ENST00000360355.2_Missense_Mutation_p.K720I|RSF1_ENST00000480887.1_Missense_Mutation_p.K499I			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	751					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	p.K751I(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTCTAGAACTTTGGGGGGAGA	0.413000													73	229					0	0	0.003610	0	0
DNAH10	196385	broad.mit.edu	37	12	124298433	124298433	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr12:124298433C>T	ENST00000409039.3	+	20	3425	c.3400C>T	c.(3400-3402)Cgt>Tgt	p.R1134C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1134	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R1134C(1)		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)		GGAGCGATACCGTACCATGGC	0.378000													10	35					0	0	0.002450	0	0
MET	4233	broad.mit.edu	37	7	116380037	116380037	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr7:116380037C>T	ENST00000397752.3	+	4	1626	c.1426C>T	c.(1426-1428)Cat>Tat	p.H476Y	MET_ENST00000436117.2_Missense_Mutation_p.H476Y|MET_ENST00000495962.1_3'UTR|MET_ENST00000318493.6_Missense_Mutation_p.H476Y	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	476	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.H476Y(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATCAACCCCTCATGTGAATTT	0.398000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				35	191					0	0	0.006230	0	0
RYBP	23429	broad.mit.edu	37	3	72495721	72495721	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr3:72495721G>C	ENST00000477973.1	-	1	348	c.349C>G	c.(349-351)Cgt>Ggt	p.R117G		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0	Lys-rich.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	p.S117S(1)		prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		AGGTGCAGACGCTACAATCCC	0.522000													9	27					0	0	0.006214	0	0
PDCD11	22984	broad.mit.edu	37	10	105169541	105169541	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr10:105169541G>T	ENST00000369797.3	+	8	1050	c.956G>T	c.(955-957)gGa>gTa	p.G319V		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	319	S1 motif 3.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	p.G319V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AAGAAAGCTGGAACATATTTC	0.433000													29	118					6.70999e-13	8.37732e-13	0.004289	1	0
TRMT44	152992	broad.mit.edu	37	4	8470028	8470028	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr4:8470028A>T	ENST00000389737.4	+	9	1882	c.1882A>T	c.(1882-1884)Aca>Tca	p.T628S	TRMT44_ENST00000513449.2_Missense_Mutation_p.T387S	NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)									p.T236S(1)|p.T628S(1)									GCAATTAAACACAAGAAGTTC	0.512000													10	145					0	0	0.006214	0	0
ITGAL	3683	broad.mit.edu	37	16	30505572	30505572	+	Missense_Mutation	SNP	C	C	T	rs145951975		TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr16:30505572C>T	ENST00000356798.6	+	12	1433	c.1253C>T	c.(1252-1254)tCg>tTg	p.S418L	ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000358164.5_Missense_Mutation_p.S335L|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	418					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	p.S418L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CAAAAGACTTCGTTGCTGGCC	0.602000													24	124					0	0	0.003954	0	0
OR2M2	391194	broad.mit.edu	37	1	248343317	248343317	+	Silent	SNP	C	C	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr1:248343317C>A	ENST00000359682.2	+	1	30	c.30C>A	c.(28-30)tcC>tcA	p.S10S		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S10S(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTTCAACTCCGACTTCATCC	0.433000													29	138					2.85442e-18	3.79361e-18	0.010818	1	0
PSKH2	85481	broad.mit.edu	37	8	87076326	87076326	+	Silent	SNP	G	G	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr8:87076326G>A	ENST00000276616.2	-	2	794	c.720C>T	c.(718-720)acC>acT	p.T240T	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	240	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.T240T(1)		NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CCACTGCACTGGTATAAGGCT	0.473000													27	98					0	0	0.006320	0	0
ROBO2	6092	broad.mit.edu	37	3	77666743	77666743	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr3:77666743G>T	ENST00000461745.1	+	22	4273	c.3373G>T	c.(3373-3375)Gat>Tat	p.D1125Y	ROBO2_ENST00000332191.8_Missense_Mutation_p.D1125Y|ROBO2_ENST00000487694.3_Missense_Mutation_p.D1141Y|ROBO2_ENST00000469233.1_3'UTR	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1125					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.D1125Y(1)|p.D1141Y(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACTGGAAGAAGATGATGATAG	0.473000													24	73					2.27525e-19	3.04352e-19	0.003954	1	0
CHRNA6	8973	broad.mit.edu	37	8	42612132	42612132	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr8:42612132T>G	ENST00000276410.2	-	4	668	c.313A>C	c.(313-315)Att>Ctt	p.I105L	CHRNA6_ENST00000530869.1_5'UTR|CHRNA6_ENST00000534622.1_Missense_Mutation_p.I90L	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	105						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.I105L(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AGAGTCTCAATGCCATCATAT	0.398000													35	155					0	0	0.005524	0	0
HKR1	284459	broad.mit.edu	37	19	37854370	37854370	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr19:37854370G>T	ENST00000591471.1	+	9	2495	c.854G>T	c.(853-855)tGt>tTt	p.C285F	HKR1_ENST00000591134.1_Intron|HKR1_ENST00000544914.1_Missense_Mutation_p.C285F|HKR1_ENST00000541583.2_Missense_Mutation_p.C497F|HKR1_ENST00000324411.4_Missense_Mutation_p.C558F|HKR1_ENST00000589392.1_Missense_Mutation_p.C540F|HKR1_ENST00000392153.3_Missense_Mutation_p.C539F			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	558					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C558F(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGCAGGGAGTGTGGCAGAAGG	0.502000													15	56					1.3612e-06	1.52396e-06	0.003163	1	0
GABRA6	2559	broad.mit.edu	37	5	161128622	161128622	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr5:161128622T>C	ENST00000523217.1	+	9	1417	c.1175T>C	c.(1174-1176)gTc>gCc	p.V392A	GABRA6_ENST00000274545.5_Missense_Mutation_p.V402A	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	402					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.V402A(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCAACACCTGTCACACCCCCA	0.473000										TCGA Ovarian(5;0.080)			16	52					0	0	0.003954	0	0
NDST3	9348	broad.mit.edu	37	4	119059262	119059262	+	Silent	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr4:119059262C>T	ENST00000296499.5	+	5	1681	c.1278C>T	c.(1276-1278)ggC>ggT	p.G426G	NDST3_ENST00000433996.2_Silent_p.G345G	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	426	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.G426G(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ACCATTCGGGCGTCTACCCTG	0.468000													11	98					0	0	0.001855	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420011	56420011	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr2:56420011A>T	ENST00000407595.2	+	2	1178	c.676A>T	c.(676-678)Aag>Tag	p.K226*	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	226	His-rich.							p.K226*(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGACCACCACAAGCACCACGC	0.692000													8	27					0	0	0.010729	0	0
IFT52	51098	broad.mit.edu	37	20	42265860	42265860	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr20:42265860G>T	ENST00000373030.3	+	12	1217	c.1087G>T	c.(1087-1089)Gag>Tag	p.E363*	IFT52_ENST00000373039.4_Nonsense_Mutation_p.E363*	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	363						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	p.E363*(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GTTCTCCTCTGAGAAGGCACG	0.423000													20	70					7.33532e-06	7.99511e-06	0.003954	1	0
NLRP3	114548	broad.mit.edu	37	1	247587992	247587992	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr1:247587992G>C	ENST00000366497.2	+	4	2027	c.1247G>C	c.(1246-1248)tGg>tCg	p.W416S	NLRP3_ENST00000336119.3_Missense_Mutation_p.W416S|NLRP3_ENST00000391827.2_Missense_Mutation_p.W416S|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.W416S|NLRP3_ENST00000348069.2_Missense_Mutation_p.W416S|NLRP3_ENST00000366496.2_Missense_Mutation_p.W416S	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	416	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.W416S(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTGGTCTGCTGGATCGTGTGC	0.547000													18	102					0	0	0.007413	0	0
RANBP6	26953	broad.mit.edu	37	9	6013371	6013371	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr9:6013371C>T	ENST00000259569.5	-	1	2247	c.2237G>A	c.(2236-2238)gGc>gAc	p.G746D		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	746					protein transport	cytoplasm|nucleus	binding	p.G746D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATACTCTGGGCCACGAATTCT	0.423000													49	49					0	0	0.003610	0	0
TRAV30	28652	broad.mit.edu	37	14	22636727	22636727	+	RNA	SNP	T	T	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr14:22636727T>C	ENST00000557168.1	+	0	180																											AGAAGCATGGTGAAGCACCCG	0.458000													3	69					0	0	0.004672	0	0
DSE	29940	broad.mit.edu	37	6	116757636	116757636	+	Missense_Mutation	SNP	A	A	G	rs145999978		TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr6:116757636A>G	ENST00000331677.3	+	7	2449	c.2005A>G	c.(2005-2007)Ata>Gta	p.I669V	DSE_ENST00000359564.2_Missense_Mutation_p.I669V|DSE_ENST00000537543.1_Missense_Mutation_p.I688V|DSE_ENST00000452085.3_Missense_Mutation_p.I669V			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	669					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	p.I669V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AGGGCCATCTATAGATGTTCA	0.517000													20	76					0	0	0.012319	0	0
MTR	4548	broad.mit.edu	37	1	237052596	237052596	+	Silent	SNP	G	G	C			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr1:237052596G>C	ENST00000366577.5	+	28	3361	c.2967G>C	c.(2965-2967)ccG>ccC	p.P989P	MTR_ENST00000535889.1_Silent_p.P938P	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	989	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	p.P989P(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GCAAGTACCCGAATCGAGGCT	0.473000													22	102					0	0	0.012319	0	0
PPME1	51400	broad.mit.edu	37	11	73950294	73950294	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr11:73950294A>G	ENST00000328257.8	+	9	1150	c.827A>G	c.(826-828)gAc>gGc	p.D276G	PPME1_ENST00000398427.4_Missense_Mutation_p.D276G|P4HA3_ENST00000540363.1_Intron|PPME1_ENST00000543525.1_Missense_Mutation_p.D89G			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	276					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity	p.D276G(1)		endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					AAGGAAGATGACATGGAGGTG	0.403000													10	41					0	0	0.008291	0	0
ENPP3	5169	broad.mit.edu	37	6	132006597	132006597	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr6:132006597G>T	ENST00000414305.1	+	14	1542	c.1214G>T	c.(1213-1215)cGc>cTc	p.R405L	ENPP3_ENST00000358229.5_Missense_Mutation_p.R405L|ENPP3_ENST00000357639.3_Missense_Mutation_p.R405L			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	405	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	p.R405L(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CCTGCCCCCCGCATCCGAGCT	0.378000													51	181					4.6707e-30	6.7758e-30	0.003610	1	0
UBE4B	10277	broad.mit.edu	37	1	10209284	10209284	+	Silent	SNP	A	A	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr1:10209284A>T	ENST00000377157.3	+	19	2960	c.1899A>T	c.(1897-1899)gcA>gcT	p.A633A	UBE4B_ENST00000343090.6_Silent_p.A878A|UBE4B_ENST00000253251.8_Silent_p.A749A	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	878					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.A878A(1)|p.A749A(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		AGGTATTTGCAGCGTTGCCTG	0.289000													46	201					0	0	0.003610	0	0
FTLP10	100130017	broad.mit.edu	37	4	69049978	69049979	+	RNA	INS	-	-	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr4:69049978_69049979insA	ENST00000503647.1	+	0	1212					NR_015446.1																						TCTCCCTGAATAAAAAAAAGAA	0.356													3	6	---	---	---	---					
HS3ST5	222537	broad.mit.edu	37	6	114379073	114379075	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr6:114379073_114379075delTCA	ENST00000312719.5	-	5	1575_1577	c.387_389delTGA	c.(385-390)gag>ga	p.DE129del	RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_In_Frame_Del_p.DE129del|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	129					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		ACCATAATTCTCATCATTATCAA	0.429													39	256	---	---	---	---					
TAAR5	9038	broad.mit.edu	37	6	132910150	132910151	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr6:132910150_132910151insA	ENST00000258034.2	-	1	726_727	c.675_676insT	c.(673-678)gtctacfs	p.Y226fs		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	226					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		TGTCTGGTAGCAACCACAAAGA	0.500													17	104	---	---	---	---					
SYNE1	23345	broad.mit.edu	37	6	152557353	152557353	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr6:152557353delC	ENST00000367255.5	-	110	20886	c.20285delG	c.(20284-20286)tcfs	p.C6762fs	SYNE1_ENST00000448038.1_Frame_Shift_Del_p.C6691fs|SYNE1_ENST00000341594.5_Frame_Shift_Del_p.C6374fs|SYNE1_ENST00000265368.4_Frame_Shift_Del_p.C6762fs|SYNE1_ENST00000423061.1_Frame_Shift_Del_p.C6691fs|SYNE1_ENST00000356820.4_Frame_Shift_Del_p.C1286fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6762					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAGATCTGAGCAGCTGATGGA	0.343										HNSCC(10;0.0054)			42	123	---	---	---	---					
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr8:41798420_41798422delCTC	ENST00000396930.3	-	16	3520_3522	c.2977_2979delGAG	c.(2977-2979)del	p.E993del	KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del|KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	993	Poly-Glu.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GGCTTTCCGGCTCCTCCTCCTCC	0.567													8	285	---	---	---	---					
RIMBP2	23504	broad.mit.edu	37	12	130912881	130912881	+	Splice_Site	DEL	G	G	-			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr12:130912881delG	ENST00000261655.4	-	12	2367	c.2202_splice	c.e12-1	p.P735_splice		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	735						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCAACAGTGCGGCTGGGGGCC	0.587													27	100	---	---	---	---					
RP11-266O8.1	0	broad.mit.edu	37	15	93974510	93974510	+	RNA	DEL	C	C	-	rs57286078		TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr15:93974510delC	ENST00000543286.1	+	0	545																											TGGCTGGGTTCtttttttttt	0.433													15	82	---	---	---	---					
DHODH	1723	broad.mit.edu	37	16	72050929	72050931	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr16:72050929_72050931delATT	ENST00000572887.1	+	4	618_620	c.441_443delATT	c.(439-444)ggt>gg	p.GF147del	DHODH_ENST00000219240.4_In_Frame_Del_p.GF147del|DHODH_ENST00000573922.1_3'UTR			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	147	Substrate binding.				'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	GCAGGTATGGATTTAACAGTCAC	0.512													22	79	---	---	---	---					
HSDL1	83693	broad.mit.edu	37	16	84164817	84164818	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr16:84164817_84164818insT	ENST00000219439.4	-	3	285_286	c.109_110insA	c.(109-111)catfs	p.H37fs	HSDL1_ENST00000434463.3_Frame_Shift_Ins_p.H37fs	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	37	Required for mitochondria translocation.					mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						GACAGTGATGCTTTTTCTGGCC	0.490													36	152	---	---	---	---					
ZNF831	128611	broad.mit.edu	37	20	57766823	57766823	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4403-01A-01D-1265-08	TCGA-05-4403-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e25ac0e-94e4-42f6-ae6f-89d0d21ce09f	a17b5d32-f570-4d2d-9e97-f8b01de1be9f	g.chr20:57766823delC	ENST00000371030.2	+	1	749	c.749delC	c.(748-750)gcfs	p.A250fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	250						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCTCCGGGTGCCCACGTGCCC	0.667													35	121	---	---	---	---					
