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
OSCP1	127700	broad.mit.edu	37	1	36904449	36904449	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr1:36904449G>C	ENST00000356637.5	-	3	268	c.205C>G	c.(205-207)Caa>Gaa	p.Q69E	OSCP1_ENST00000433045.2_Missense_Mutation_p.Q14E|OSCP1_ENST00000235532.5_Missense_Mutation_p.Q59E|OSCP1_ENST00000315643.9_Missense_Mutation_p.Q69E|OSCP1_ENST00000354267.3_Missense_Mutation_p.Q59E			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	69					transport	basal plasma membrane		p.Q59E(1)|p.Q69E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TAGAGCTCTTGAGGCTTGAAT	0.468000													15	50					0	0	0.020292	0	0
SPEG	10290	broad.mit.edu	37	2	220337742	220337742	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:220337742C>T	ENST00000312358.7	+	16	4203	c.4071C>T	c.(4069-4071)ttC>ttT	p.F1357F	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1357	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.F1357F(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCACATCTTCCGGGTCCTCA	0.672000													19	46					0	0	0.012319	0	0
BNC2	54796	broad.mit.edu	37	9	16437456	16437456	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr9:16437456G>A	ENST00000380672.4	-	6	793	c.736C>T	c.(736-738)Cag>Tag	p.Q246*	BNC2_ENST00000380666.2_Nonsense_Mutation_p.Q246*|BNC2_ENST00000545497.1_Nonsense_Mutation_p.Q151*|BNC2_ENST00000380667.2_Nonsense_Mutation_p.Q179*	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	p.Q246*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AGAAACTGCTGAAGGGTGATG	0.498000													6	37					0	0	0.001984	0	0
WDR49	151790	broad.mit.edu	37	3	167249008	167249008	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr3:167249008C>G	ENST00000308378.3	-	9	1362	c.1057G>C	c.(1057-1059)Gac>Cac	p.D353H	WDR49_ENST00000476376.1_Missense_Mutation_p.D178H|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.D417H	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	353								p.D353H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GTAGAATGGTCTGCCATGGGG	0.433000													4	26					0	0	0.014758	0	0
ZNF318	24149	broad.mit.edu	37	6	43305865	43305865	+	Silent	SNP	A	A	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr6:43305865A>T	ENST00000361428.2	-	10	5948	c.5871T>A	c.(5869-5871)gcT>gcA	p.A1957A	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1957					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.A1957A(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CATCCCAAACAGCCAACTCAT	0.428000													11	83					0	0	0.008291	0	0
DNAH10	196385	broad.mit.edu	37	12	124416629	124416629	+	Silent	SNP	C	C	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr12:124416629C>A	ENST00000409039.3	+	75	12941	c.12916C>A	c.(12916-12918)Cgg>Agg	p.R4306R	CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron|DNAH10_ENST00000538983.1_3'UTR	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4306					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R4306R(1)|p.R2898R(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)		CTACTTCCTGCGGCGGTTCAG	0.532000													12	71					1.08611e-07	1.1841e-07	0.010729	1	0
DDX3X	1654	broad.mit.edu	37	X	41204468	41204468	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chrX:41204468A>T	ENST00000399959.2	+	11	1916	c.1061A>T	c.(1060-1062)gAt>gTt	p.D354V	DDX3X_ENST00000457138.2_Missense_Mutation_p.D338V|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	354	Helicase ATP-binding.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	p.D354V(2)|p.D354G(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CGGATGTTGGATATGGGGTTT	0.403000										HNSCC(61;0.18)			39	176					0	0	0.006230	0	0
GCC2	9648	broad.mit.edu	37	2	109102293	109102293	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:109102293G>A	ENST00000309863.6	+	15	4435	c.3721G>A	c.(3721-3723)Gat>Aat	p.D1241N		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1241					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	p.D1241N(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ATAGGAAACTGATCACTTAAT	0.274000													3	26					0	0	0.004672	0	0
CBX4	8535	broad.mit.edu	37	17	77809510	77809510	+	Splice_Site	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:77809510C>T	ENST00000269397.4	-	4	358	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	CBX4_ENST00000448310.1_Intron	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	61	Chromo.|Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	p.E61K(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCCTGCCGTTCCCTGGGTGGG	0.637000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	10					0	0	0.004672	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958721	51958721	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr19:51958721C>T	ENST00000321424.3	-	4	1068	c.1002G>A	c.(1000-1002)caG>caA	p.Q334Q	SIGLEC8_ENST00000340550.5_Silent_p.Q241Q|SIGLEC8_ENST00000430817.1_Silent_p.Q225Q	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	334	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.Q334Q(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCTGGGAGCCCTGAGCGTTCT	0.632000													5	42					0	0	0.001168	0	0
KIAA1468	57614	broad.mit.edu	37	18	59855016	59855016	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr18:59855016C>G	ENST00000256858.6	+	1	526	c.278C>G	c.(277-279)tCa>tGa	p.S93*	KIAA1468_ENST00000398130.2_Nonsense_Mutation_p.S93*			Q9P260	K1468_HUMAN	KIAA1468	93							binding	p.S93*(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GCCCGATTATCAATTGATGCG	0.672000													3	11					0	0	0.009096	0	0
KMT2C	58508	broad.mit.edu	37	7	151949162	151949162	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr7:151949162C>G	ENST00000355193.2	-	11	1701	c.1483G>C	c.(1483-1485)Gag>Cag	p.E495Q	KMT2C_ENST00000262189.6_Missense_Mutation_p.E495Q					lysine (K)-specific methyltransferase 2C									p.E495Q(2)									TTGTCACACTCTAGGTGAACC	0.378000													4	19					0	0	0.014758	0	0
FOS	2353	broad.mit.edu	37	14	75747297	75747297	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr14:75747297G>A	ENST00000303562.4	+	3	637	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	FOS_ENST00000555686.1_Missense_Mutation_p.R29Q|FOS_ENST00000535987.1_Intron|FOS_ENST00000555347.1_5'UTR|FOS_ENST00000555242.1_Missense_Mutation_p.R143Q	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	143				SPEEEEKRRIRR -> ISRRRREKENPK (in Ref. 6; no nucleotide entry).	cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|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|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R143Q(2)		central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		AGGAGAATCCGAAGGGAAAGG	0.468000													6	40					0	0	0.001168	0	0
HERC1	8925	broad.mit.edu	37	15	63970057	63970057	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr15:63970057C>G	ENST00000443617.2	-	37	7144	c.7057G>C	c.(7057-7059)Gaa>Caa	p.E2353Q	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2353					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.E2353Q(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATAGTAATTTCTGCTTCATCC	0.458000													26	104					0	0	0.004656	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101592818	101592818	+	Splice_Site	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr5:101592818C>T	ENST00000310954.6	-	8	1756		c.e8+1			NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1						cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATTGTATTTACCCATTATATG	0.323000													10	43					0	0	0.008291	0	0
SLC5A11	115584	broad.mit.edu	37	16	24920408	24920408	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr16:24920408C>T	ENST00000347898.3	+	14	2263	c.1641C>T	c.(1639-1641)tcC>tcT	p.S547S	SLC5A11_ENST00000567758.1_Silent_p.S512S|SLC5A11_ENST00000568579.1_Silent_p.S477S|SLC5A11_ENST00000424767.2_Silent_p.S512S|SLC5A11_ENST00000569071.1_Silent_p.S391S|SLC5A11_ENST00000545376.1_Silent_p.S477S|SLC5A11_ENST00000539472.1_Silent_p.S483S|SLC5A11_ENST00000565769.1_Silent_p.S483S|SLC5A11_ENST00000449109.2_Silent_p.S391S	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	547				S -> P (in Ref. 5; BAC86105).	apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	p.S547S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		AGCCACCCTCCAAGGAGATGG	0.493000													15	91					0	0	0.003163	0	0
SSB	6741	broad.mit.edu	37	2	170666827	170666827	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:170666827A>C	ENST00000409333.1	+	9	951	c.704A>C	c.(703-705)aAa>aCa	p.K235T	SSB_ENST00000260956.4_Missense_Mutation_p.K235T|METTL5_ENST00000409837.1_3'UTR			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	235					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	p.K235T(1)		endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGCTTGCTGAAATTTTCGGGT	0.333000													10	46					0	0	0.006214	0	0
RBAK	57786	broad.mit.edu	37	7	5103941	5103941	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr7:5103941G>C	ENST00000396912.1	+	5	1373	c.854G>C	c.(853-855)gGa>gCa	p.G285A	RBAK_ENST00000353796.3_Missense_Mutation_p.G285A|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	285					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.G285A(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GCTCACACAGGAGAGAAACCT	0.418000													10	39					0	0	0.006214	0	0
TTC18	118491	broad.mit.edu	37	10	75051185	75051185	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr10:75051185G>C	ENST00000401621.2	-	20	2368	c.2248C>G	c.(2248-2250)Caa>Gaa	p.Q750E	TTC18_ENST00000355577.3_Missense_Mutation_p.Q219E|TTC18_ENST00000310715.3_Missense_Mutation_p.Q750E|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000394865.1_Missense_Mutation_p.Q750E|TTC18_ENST00000493787.1_5'UTR			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	750							binding	p.Q750E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TCATTGTTTTGAATTTCATAG	0.363000													9	61					0	0	0.006214	0	0
B3GNTL1	146712	broad.mit.edu	37	17	81006556	81006556	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:81006556C>T	ENST00000320865.3	-	2	179	c.166G>A	c.(166-168)Gat>Aat	p.D56N	B3GNTL1_ENST00000576599.1_5'UTR|B3GNTL1_ENST00000571954.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	56							transferase activity, transferring glycosyl groups	p.D56N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TTACTGGCATCATTGAAAACA	0.507000													30	102					0	0	0.009535	0	0
RIMKLB	57494	broad.mit.edu	37	12	8902643	8902643	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr12:8902643G>A	ENST00000357529.3	+	4	1623	c.361G>A	c.(361-363)Gag>Aag	p.E121K	RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000538135.1_Missense_Mutation_p.E121K|RIMKLB_ENST00000535829.1_Missense_Mutation_p.E121K	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	121	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	p.E121K(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GACATTTCAAGAGTTGGCTGG	0.433000													7	66					0	0	0.003080	0	0
COMMD6	170622	broad.mit.edu	37	13	76104396	76104396	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr13:76104396C>G	ENST00000377615.3	-	4	225	c.61G>C	c.(61-63)Gat>Cat	p.D21H	COMMD6_ENST00000406936.3_Missense_Mutation_p.D21H|COMMD6_ENST00000460675.1_5'UTR|COMMD6_ENST00000355801.4_Missense_Mutation_p.D21H|COMMD6_ENST00000377619.5_Missense_Mutation_p.D36H			Q7Z4G1	COMD6_HUMAN	COMM domain containing 6	21	COMM.					cytoplasm|nucleus	protein binding	p.D21H(1)		breast(1)|lung(1)|urinary_tract(1)	3		Breast(118;0.0979)|Prostate(6;0.122)		GBM - Glioblastoma multiforme(99;0.0104)		CACTGAAAATCTACAAGCTTT	0.363000													10	67					0	0	0.006214	0	0
NRBP1	29959	broad.mit.edu	37	2	27656553	27656553	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:27656553A>G	ENST00000233557.3	+	4	1056	c.224A>G	c.(223-225)aAt>aGt	p.N75S	NRBP1_ENST00000379863.3_Missense_Mutation_p.N75S|NRBP1_ENST00000379852.3_Missense_Mutation_p.N75S			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	75	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	p.N75S(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					AATCAACGGAATGTACCAGGT	0.418000													9	80					0	0	0.004482	0	0
PRDM16	63976	broad.mit.edu	37	1	3334507	3334507	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr1:3334507C>T	ENST00000378398.3	+	12	2889	c.2807C>T	c.(2806-2808)cCc>cTc	p.P936L	PRDM16_ENST00000378391.2_Missense_Mutation_p.P936L|PRDM16_ENST00000442529.2_Missense_Mutation_p.P935L|PRDM16_ENST00000511072.1_Missense_Mutation_p.P937L|PRDM16_ENST00000514189.1_Missense_Mutation_p.P936L|PRDM16_ENST00000441472.2_Missense_Mutation_p.P935L|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Missense_Mutation_p.P936L			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	936	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.P935L(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGGTCCCCACCCCCAACGCTC	0.657000			T	EVI1	"""MDS, AML"""								21	36					0	0	0.021523	0	0
USP47	55031	broad.mit.edu	37	11	11954622	11954622	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr11:11954622C>G	ENST00000339865.5	+	14	2282	c.1519C>G	c.(1519-1521)Caa>Gaa	p.Q507E	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Missense_Mutation_p.Q595E|USP47_ENST00000527733.1_Missense_Mutation_p.Q575E	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	595					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	p.Q507E(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GTTGGAAGAACAAGAAAAGAG	0.338000													2	10					0	0	0.004672	0	0
C10orf90	118611	broad.mit.edu	37	10	128193175	128193175	+	Silent	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr10:128193175G>A	ENST00000284694.7	-	3	714	c.594C>T	c.(592-594)ttC>ttT	p.F198F	C10orf90_ENST00000454341.1_Silent_p.F198F|C10orf90_ENST00000392694.1_Silent_p.F151F|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Silent_p.F151F|C10orf90_ENST00000544758.1_Silent_p.F295F	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	198								p.F198F(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TGTTTCTGGAGAACTCTGTGC	0.602000											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	123					0	0	0.014323	0	0
CDH16	1014	broad.mit.edu	37	16	66944181	66944181	+	Missense_Mutation	SNP	G	G	A	rs140255974		TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr16:66944181G>A	ENST00000299752.4	-	15	2342	c.2149C>T	c.(2149-2151)Cgc>Tgc	p.R717C	CDH16_ENST00000565796.1_Missense_Mutation_p.R678C|CDH16_ENST00000568632.1_Missense_Mutation_p.R620C|CDH16_ENST00000570262.1_Missense_Mutation_p.R637C|CDH16_ENST00000394055.3_Missense_Mutation_p.R695C	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	717	Ectodomain G.		R -> H (in dbSNP:rs34621310).		homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R717C(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTCTGGAGGCGCCAATCCCGT	0.612000													18	61					0	0	0.007413	0	0
CCDC108	255101	broad.mit.edu	37	2	219884302	219884302	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:219884302C>T	ENST00000341552.5	-	20	3482	c.3399G>A	c.(3397-3399)ctG>ctA	p.L1133L	CCDC108_ENST00000453220.1_Silent_p.L1133L|CCDC108_ENST00000441968.1_Silent_p.L1133L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1133						integral to membrane	structural molecule activity	p.L1133L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAAGCAGGTCCAGAGAGAAGA	0.622000													8	42					0	0	0.004482	0	0
LAMA3	3909	broad.mit.edu	37	18	21492790	21492790	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr18:21492790C>G	ENST00000313654.9	+	56	7515	c.7274C>G	c.(7273-7275)tCa>tGa	p.S2425*	LAMA3_ENST00000269217.6_Nonsense_Mutation_p.S816*|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.S760*|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Nonsense_Mutation_p.S2369*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2425	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.S2425*(1)|p.S816*(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGCCCAACTCAAGAGAAAAT	0.388000													16	87					0	0	0.004007	0	0
NUFIP2	57532	broad.mit.edu	37	17	27613535	27613535	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:27613535G>C	ENST00000225388.4	-	2	1535	c.1477C>G	c.(1477-1479)Cag>Gag	p.Q493E	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	493						nucleus|polysomal ribosome	protein binding|RNA binding	p.Q493E(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TGATCTGTCTGAGAGGGCAGA	0.438000													12	62					0	0	0.013537	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077796	19077796	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr11:19077796G>A	ENST00000329773.2	-	2	241	c.154C>T	c.(154-156)Ctc>Ttc	p.L52F		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	52					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	p.L52F(1)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGGAGCCAGAGCACAAACCCG	0.572000													30	131					0	0	0.007291	0	0
BIRC6	57448	broad.mit.edu	37	2	32694656	32694656	+	Silent	SNP	A	A	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:32694656A>G	ENST00000421745.2	+	30	6455	c.6321A>G	c.(6319-6321)gaA>gaG	p.E2107E		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2107					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.E2107E(1)|p.E2079E(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACAATTCGGAACAGCTTCTCA	0.388000													20	167					0	0	0.007413	0	0
MT-ND6	4541	broad.mit.edu	37	MT	14259	14259	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chrM:14259G>A	ENST00000361681.2	-	1	414	c.415C>T	c.(415-417)Cct>Tct	p.P139S						mitochondrially encoded NADH dehydrogenase 6											breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						CGCACCAATAGGATCCTCCCG	0.423000													7	4					0	0	0.001984	0	0
FAM186B	84070	broad.mit.edu	37	12	49997129	49997129	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr12:49997129A>G	ENST00000544141.1	-	3	673	c.74T>C	c.(73-75)aTt>aCt	p.I25T	FAM186B_ENST00000257894.2_Missense_Mutation_p.I115T|FAM186B_ENST00000551047.1_Missense_Mutation_p.I115T|PRPF40B_ENST00000508736.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	115						protein complex		p.I115T(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTGGGCCCAATCTCATAGGT	0.557000													11	53					0	0	0.008291	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57992888	57992888	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr12:57992888T>A	ENST00000354947.5	+	5	570	c.554T>A	c.(553-555)tTc>tAc	p.F185Y	PIP4K2C_ENST00000422156.3_Missense_Mutation_p.F137Y|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.F167Y|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.F185Y			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	185	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	p.F185Y(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CTGCCCCAGTTCCTGGGGATG	0.517000													14	80					0	0	0.020292	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730530	37730530	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr8:37730530G>C	ENST00000330843.4	-	4	1802	c.1790C>G	c.(1789-1791)tCt>tGt	p.S597C	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	597	Ser-rich.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	p.S597C(1)		NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGATGAGAGAGAGGAGAAGAC	0.547000													17	98					0	0	0.004007	0	0
BAG4	9530	broad.mit.edu	37	8	38065264	38065264	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr8:38065264C>T	ENST00000287322.4	+	3	884	c.613C>T	c.(613-615)Cca>Tca	p.P205S	BAG4_ENST00000432471.2_Missense_Mutation_p.P169S	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	205					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity	p.P205S(1)		breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				GGGGCAGGTTCCAGGATATCC	0.478000													13	78					0	0	0.020292	0	0
IGSF11	152404	broad.mit.edu	37	3	118624510	118624510	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr3:118624510C>G	ENST00000354673.2	-	7	1013	c.633G>C	c.(631-633)ttG>ttC	p.L211F	IGSF11_ENST00000425327.2_Missense_Mutation_p.L211F|IGSF11_ENST00000489689.1_Intron|IGSF11_ENST00000441144.2_Intron|IGSF11_ENST00000393775.2_Missense_Mutation_p.L212F|IGSF11_ENST00000491903.1_Missense_Mutation_p.L212F	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	212	Ig-like C2-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	p.L212F(1)|p.L211F(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGCACTGGTACAAACCTGAAG	0.468000													4	60					0	0	0.009096	0	0
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								6	41					0	0	0.001984	0	0
LTBP1	4052	broad.mit.edu	37	2	33500072	33500072	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:33500072G>C	ENST00000404816.2	+	17	3137	c.2784G>C	c.(2782-2784)caG>caC	p.Q928H	LTBP1_ENST00000404525.1_Missense_Mutation_p.Q549H|LTBP1_ENST00000402934.1_Missense_Mutation_p.Q549H|LTBP1_ENST00000390003.4_Missense_Mutation_p.Q603H|LTBP1_ENST00000418533.2_Missense_Mutation_p.Q602H|LTBP1_ENST00000354476.3_Missense_Mutation_p.Q929H|LTBP1_ENST00000407925.1_Missense_Mutation_p.Q602H			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	928	EGF-like 5; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.Q929H(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCTGCTCCCAGGGCCGCTGTG	0.438000													24	84					0	0	0.021523	0	0
VWA8	23078	broad.mit.edu	37	13	42442585	42442585	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr13:42442585G>C	ENST00000379310.3	-	10	1177	c.1109C>G	c.(1108-1110)tCt>tGt	p.S370C	VWA8_ENST00000281496.6_Missense_Mutation_p.S370C	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8									p.S370C(1)									AGGAAGTAGAGAGCTTCCTGA	0.368000													11	62					0	0	0.008291	0	0
PCSK6	5046	broad.mit.edu	37	15	101906530	101906530	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr15:101906530C>T	ENST00000348070.1	-	14	1725	c.1726G>A	c.(1726-1728)Gat>Aat	p.D576N	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.D576N|PCSK6_ENST00000331826.7_Missense_Mutation_p.D411N|PCSK6_ENST00000344273.2_Missense_Mutation_p.D576N|PCSK6_ENST00000398181.2_Missense_Mutation_p.D576N	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	577	Homo B/P.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	p.D576N(3)|p.D411N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTGGAAAGATCCAGCAACCTG	0.542000													6	41					0	0	0.001168	0	0
GHSR	2693	broad.mit.edu	37	3	172166168	172166168	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr3:172166168G>C	ENST00000241256.2	-	1	78	c.36C>G	c.(34-36)ttC>ttG	p.F12L	GHSR_ENST00000427970.1_Missense_Mutation_p.F12L	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	12					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	p.F12L(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GTGTGAGGTTGAACCCCGGCT	0.697000													11	23					0	0	0.010729	0	0
TPTE	7179	broad.mit.edu	37	21	10944672	10944672	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr21:10944672G>A	ENST00000298232.7	-	10	875	c.508C>T	c.(508-510)Ccc>Tcc	p.P170S	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.P150S|TPTE_ENST00000361285.4_Missense_Mutation_p.P188S	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	188					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.P188S(1)|p.P170S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCATACCTGGGAATATTCCTA	0.284000													9	173					0	0	0.006214	0	0
CD163	9332	broad.mit.edu	37	12	7635262	7635262	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr12:7635262C>T	ENST00000359156.4	-	14	3426	c.3224G>A	c.(3223-3225)cGa>cAa	p.R1075Q	CD163_ENST00000396620.3_Missense_Mutation_p.R1108Q|CD163_ENST00000541972.1_Missense_Mutation_p.R1063Q|CD163_ENST00000432237.2_Missense_Mutation_p.R1075Q	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1075					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.R1075Q(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCTCTGTCTTCGCTTTTTAGT	0.433000													16	86					0	0	0.010504	0	0
MS4A8	83661	broad.mit.edu	37	11	60468502	60468502	+	Missense_Mutation	SNP	G	G	A	rs148191741	byFrequency	TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr11:60468502G>A	ENST00000300226.2	+	2	372	c.169G>A	c.(169-171)Gtg>Atg	p.V57M		NM_031457.1	NP_113645.1			membrane-spanning 4-domains, subfamily A, member 8									p.V57M(1)									GGTGTCGAATGTGAATGGGCA	0.532000													11	58					0	0	0.010729	0	0
XIRP2	129446	broad.mit.edu	37	2	168106607	168106607	+	Missense_Mutation	SNP	A	A	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:168106607A>G	ENST00000409195.1	+	9	8794	c.8705A>G	c.(8704-8706)aAg>aGg	p.K2902R	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K2902R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K2680R|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2727					actin cytoskeleton organization	cell junction	actin binding	p.K2902R(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTCGAAGTCAAGGGCATACAA	0.378000													12	30					0	0	0.010729	0	0
BBS1	582	broad.mit.edu	37	11	66282016	66282016	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr11:66282016G>A	ENST00000419755.3	+	4	488	c.410G>A	c.(409-411)cGg>cAg	p.R137Q	BBS1_ENST00000537537.1_Missense_Mutation_p.G4R|BBS1_ENST00000393994.2_Missense_Mutation_p.R100Q|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000318312.7_Missense_Mutation_p.R100Q|BBS1_ENST00000455748.2_Missense_Mutation_p.R100Q														p.R100Q(1)									CATGAGCCCCGGACCCCAGCT	0.562000													50	205					0	0	0.014410	0	0
CIAPIN1	57019	broad.mit.edu	37	16	57468081	57468081	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr16:57468081C>T	ENST00000394391.4	-	5	672	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	CIAPIN1_ENST00000567518.1_Missense_Mutation_p.R131Q|CIAPIN1_ENST00000568940.1_Missense_Mutation_p.R144Q|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.R144Q|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000569979.1_Missense_Mutation_p.R144Q|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.R117Q	NM_020313.2	NP_064709.2	Q6FI81	CPIN1_HUMAN	cytokine induced apoptosis inhibitor 1	144					anti-apoptosis|apoptosis	cytoplasm|nucleolus		p.R144Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						AAGGTGTTCTCGAACAGACTG	0.448000													25	158					0	0	0.021523	0	0
IL16	3603	broad.mit.edu	37	15	81592687	81592687	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr15:81592687C>G	ENST00000394660.2	+	14	3380	c.3020C>G	c.(3019-3021)tCt>tGt	p.S1007C	IL16_ENST00000394652.2_Missense_Mutation_p.S306C|IL16_ENST00000302987.4_Missense_Mutation_p.S1007C	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1007					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.S1007C(1)|p.S961C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGCCTTCCATCTTCTATCTCC	0.493000													20	101					0	0	0.008871	0	0
RAB36	9609	broad.mit.edu	37	22	23501351	23501351	+	Splice_Site	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr22:23501351C>T	ENST00000263116.2	+	9	768	c.728C>T	c.(727-729)tCa>tTa	p.S243L	RAB36_ENST00000341989.4_Splice_Site_p.S221L	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	243					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	p.S243L(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)		TTCTCCCAGTCAGGGGCCGCA	0.662000													3	10					0	0	0.009096	0	0
SYNRG	11276	broad.mit.edu	37	17	35913327	35913327	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:35913327G>C	ENST00000339208.6	-	14	2638	c.2498C>G	c.(2497-2499)tCt>tGt	p.S833C	SYNRG_ENST00000394378.2_Missense_Mutation_p.S755C|SYNRG_ENST00000345615.4_Missense_Mutation_p.S755C|SYNRG_ENST00000591288.1_Missense_Mutation_p.S672C|SYNRG_ENST00000346661.4_Missense_Mutation_p.S833C|SYNRG_ENST00000502449.2_Missense_Mutation_p.S755C|SYNRG_ENST00000585472.1_Missense_Mutation_p.S754C	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	833					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	p.S833C(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAACTGAACAGAGAGTGCATC	0.463000													12	72					0	0	0.013537	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20224169	20224169	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr13:20224169G>C	ENST00000361479.5	+	5	1413	c.1345G>C	c.(1345-1347)Gat>Cat	p.D449H	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.D449H	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	449					cell cycle	cytoplasm|nucleus		p.D449H(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		AAATGCATTTGATTTATTTAA	0.279000													5	30					0	0	0.014758	0	0
CUL9	23113	broad.mit.edu	37	6	43174208	43174208	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr6:43174208C>T	ENST00000252050.4	+	26	5256	c.5172C>T	c.(5170-5172)ttC>ttT	p.F1724F	CUL9_ENST00000354495.3_Silent_p.F1614F|CUL9_ENST00000372647.2_Silent_p.F1724F|CUL9_ENST00000502937.1_3'UTR	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1724					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.F1724F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCACAGAATTCTGTGATGCCC	0.542000													22	96					0	0	0.014323	0	0
TFE3	7030	broad.mit.edu	37	X	48895849	48895849	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chrX:48895849G>A	ENST00000315869.7	-	4	912	c.653C>T	c.(652-654)cCa>cTa	p.P218L	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	218					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.P218L(2)	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						CCCCGGCGGTGGGGTGAGGGC	0.706000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								4	13					0	0	0.014758	0	0
ATXN2L	11273	broad.mit.edu	37	16	28847397	28847397	+	Silent	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr16:28847397C>G	ENST00000336783.4	+	22	3206	c.3039C>G	c.(3037-3039)ctC>ctG	p.L1013L	ATXN2L_ENST00000395547.2_Silent_p.L1013L|ATXN2L_ENST00000564304.1_Silent_p.L1019L|ATXN2L_ENST00000340394.8_Silent_p.L1013L|ATXN2L_ENST00000325215.6_Silent_p.L1013L|ATXN2L_ENST00000382686.4_Silent_p.L1013L|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Silent_p.L1013L	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1013						membrane		p.L1013L(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGCCTGCACTCTCAGCTTCCA	0.682000													15	92					0	0	0.004007	0	0
KNTC1	9735	broad.mit.edu	37	12	123067479	123067479	+	Silent	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr12:123067479G>C	ENST00000333479.7	+	34	3387	c.3210G>C	c.(3208-3210)ctG>ctC	p.L1070L	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1070					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	p.L1070L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AGGCAGAGCTGACCTTGAGAG	0.502000													3	23					0	0	0.004672	0	0
FAM57A	79850	broad.mit.edu	37	17	641234	641234	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:641234C>G	ENST00000308278.8	+	3	591	c.355C>G	c.(355-357)Ctc>Gtc	p.L119V	FAM57A_ENST00000301324.8_Missense_Mutation_p.L119V|FAM57A_ENST00000572018.1_Intron	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	119	TLC.					integral to membrane|plasma membrane		p.L119V(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TCGAAACCGCCTCATGATCAC	0.552000													17	91					0	0	0.004990	0	0
HYAL3	8372	broad.mit.edu	37	3	50331065	50331065	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr3:50331065C>G	ENST00000336307.1	-	3	1254	c.982G>C	c.(982-984)Gag>Cag	p.E328Q	HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000450982.1_Intron|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000415204.1_Missense_Mutation_p.E79Q	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	328					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity	p.E328Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ATGATCACCTCAGAGCTGGAG	0.587000													12	103					0	0	0.013537	0	0
ZNF765	91661	broad.mit.edu	37	19	53912261	53912261	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr19:53912261C>T	ENST00000396408.3	+	4	1570	c.1453C>T	c.(1453-1455)Cat>Tat	p.H485Y	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H485Y(1)		endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TACATACCATCATAGACTTCA	0.373000													6	81					0	0	0.003080	0	0
OPCML	4978	broad.mit.edu	37	11	132527208	132527208	+	Silent	SNP	G	G	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr11:132527208G>T	ENST00000331898.7	-	2	752	c.174C>A	c.(172-174)acC>acA	p.T58T	OPCML_ENST00000374778.4_Silent_p.T17T|OPCML_ENST00000524381.1_Silent_p.T51T|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Silent_p.T58T	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	58	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.T51K(1)|p.T58>?(1)|p.T58T(1)|p.T51T(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GGTCATCTATGGTACACCTGC	0.512000													8	40					0.000673444	0.000707604	0.008291	1	0
LEPREL4	10609	broad.mit.edu	37	17	39967426	39967426	+	Silent	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:39967426G>A	ENST00000355468.3	-	3	1039	c.573C>T	c.(571-573)gtC>gtT	p.V191V	LEPREL4_ENST00000393928.1_Silent_p.V191V			Q92791	SC65_HUMAN	leprecan-like 4	191					synaptonemal complex assembly	nucleolus|synaptonemal complex	binding	p.V191V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						ACTCGTCGGCGACGTCCAGCA	0.627000													38	227					0	0	0.010771	0	0
PCDH17	27253	broad.mit.edu	37	13	58208888	58208888	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr13:58208888G>C	ENST00000377918.3	+	1	2234	c.2208G>C	c.(2206-2208)gaG>gaC	p.E736D		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	736					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.E736D(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)		AGAACAAGGAGATCCGCACTT	0.552000													6	49					0	0	0.001984	0	0
OPCML	4978	broad.mit.edu	37	11	132527209	132527209	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr11:132527209G>T	ENST00000331898.7	-	2	751	c.173C>A	c.(172-174)aCc>aAc	p.T58N	OPCML_ENST00000374778.4_Missense_Mutation_p.T17N|OPCML_ENST00000524381.1_Missense_Mutation_p.T51N|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.T58N	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	58	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.T51K(1)|p.T58>?(1)|p.T51N(1)|p.T58N(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GTCATCTATGGTACACCTGCA	0.512000													9	39					0.000673444	0.000707604	0.008291	1	0
GPR98	84059	broad.mit.edu	37	5	89969991	89969991	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr5:89969991A>C	ENST00000405460.2	+	23	5146	c.5050A>C	c.(5050-5052)Agc>Cgc	p.S1684R	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1684					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.S1684R(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGTGGTGCAAGCATAGATCC	0.423000													6	27					0	0	0.001168	0	0
PXDN	7837	broad.mit.edu	37	2	1670223	1670223	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:1670223C>G	ENST00000252804.4	-	10	1104	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	352	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.E352Q(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ACCAGCACCTCTGTATTCTGT	0.532000													6	17					0	0	0.003080	0	0
CD209	30835	broad.mit.edu	37	19	7810765	7810765	+	Silent	SNP	C	C	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr19:7810765C>A	ENST00000315599.7	-	4	409	c.387G>T	c.(385-387)cgG>cgT	p.R129R	CD209_ENST00000394161.5_Intron|CD209_ENST00000204801.8_Silent_p.R85R|CD209_ENST00000394173.4_Intron|CD209_ENST00000593660.1_Silent_p.R105R|CD209_ENST00000315591.8_Silent_p.R105R|CD209_ENST00000354397.6_Silent_p.R129R|CD209_ENST00000602261.1_Silent_p.R129R|CD209_ENST00000601256.1_Silent_p.R105R|CD209_ENST00000301357.8_Silent_p.R85R|CD209_ENST00000601951.1_Silent_p.R105R|CD209_ENST00000593821.1_Silent_p.R85R	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.R129R(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CAGCCTTCAGCCGGGTCAGCT	0.567000													40	164					1.22674e-20	1.34756e-20	0.008740	1	0
AFF3	3899	broad.mit.edu	37	2	100167951	100167951	+	Silent	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:100167951G>A	ENST00000409236.2	-	23	3778	c.3666C>T	c.(3664-3666)agC>agT	p.S1222S	AFF3_ENST00000409579.1_Silent_p.S1247S|AFF3_ENST00000356421.2_Silent_p.S1247S|AFF3_ENST00000317233.4_Silent_p.S1222S			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S1247S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ACAGGTGGGCGCTGTTCCGCA	0.612000													7	20					0	0	0.001984	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64708913	64708913	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chrX:64708913C>T	ENST00000338957.4	+	1	299	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.R67C	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	67							endonuclease activity|nucleic acid binding|zinc ion binding	p.R67C(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAAGCCACACCGCCAGCTCTG	0.488000													6	35					0	0	0.001984	0	0
FERD3L	222894	broad.mit.edu	37	7	19184848	19184848	+	Silent	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr7:19184848G>A	ENST00000275461.3	-	1	196	c.138C>T	c.(136-138)ctC>ctT	p.L46L	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	46					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L46L(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						TTCCCTCTCGGAGCGCAAGGG	0.657000													4	44					0	0	0.009096	0	0
FREM2	341640	broad.mit.edu	37	13	39266204	39266204	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr13:39266204G>A	ENST00000280481.7	+	1	4939	c.4723G>A	c.(4723-4725)Gtg>Atg	p.V1575M		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1575					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V1575M(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TATCACCCAGGTGCCTATTCA	0.418000													16	103					0	0	0.003163	0	0
CTNND2	1501	broad.mit.edu	37	5	11732250	11732250	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr5:11732250G>T	ENST00000304623.8	-	2	361	c.172C>A	c.(172-174)Cag>Aag	p.Q58K	CTNND2_ENST00000359640.2_Missense_Mutation_p.Q58K|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	58					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.Q58K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTTTCTACCTGTTCTTTGACT	0.418000													9	47					3.86212e-05	4.1482e-05	0.008291	1	0
NPVF	64111	broad.mit.edu	37	7	25264765	25264765	+	Silent	SNP	A	A	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr7:25264765A>G	ENST00000222674.2	-	3	613	c.567T>C	c.(565-567)gaT>gaC	p.D189D		NM_022150.3	NP_071433	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	189					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity	p.D189D(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TCAATTCTGCATCATCTATTT	0.393000													6	48					0	0	0.001168	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531711	140531711	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr5:140531711G>T	ENST00000231136.1	+	1	1873	c.1873G>T	c.(1873-1875)Gcc>Tcc	p.A625S	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A489S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		625	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A625S(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCGCACCGCCAGGCTGCT	0.687000													11	45					0.000308642	0.000329067	0.003163	1	0
IDE	3416	broad.mit.edu	37	10	94269887	94269887	+	Missense_Mutation	SNP	T	T	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr10:94269887T>G	ENST00000265986.6	-	6	873	c.817A>C	c.(817-819)Aag>Cag	p.K273Q		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	273					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	p.K273Q(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAAAATAACTTTACCACCAGA	0.343000													24	84					0	0	0.004656	0	0
TNC	3371	broad.mit.edu	37	9	117810616	117810616	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr9:117810616C>T	ENST00000350763.4	-	16	5186	c.4775G>A	c.(4774-4776)gGc>gAc	p.G1592D	TNC_ENST00000537320.1_Intron|TNC_ENST00000481475.1_5'UTR|TNC_ENST00000345230.3_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.G1228D|TNC_ENST00000542877.1_Intron|TNC_ENST00000535648.1_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1592	Fibronectin type-III 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.G1592D(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ATAGCCAATGCCAGTTATGAG	0.498000													15	42					0	0	0.003163	0	0
SLC35B2	347734	broad.mit.edu	37	6	44223092	44223092	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr6:44223092G>A	ENST00000393812.3	-	4	793	c.650C>T	c.(649-651)gCc>gTc	p.A217V	SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000537814.1_Missense_Mutation_p.A84V|SLC35B2_ENST00000538577.1_Missense_Mutation_p.A124V	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	217					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	p.A217V(1)		breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACCTTAGAGGCCTTGGCCAG	0.562000													20	100					0	0	0.008871	0	0
IGKV3-20	28912	broad.mit.edu	37	2	89442281	89442281	+	RNA	SNP	A	A	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:89442281A>G	ENST00000492167.1	-	0	175																											GCCCTGCAGGAGAGGGTGGCT	0.537000													11	52					0	0	0.008291	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170355	107170355	+	RNA	SNP	A	A	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr14:107170355A>G	ENST00000390633.2	-	0	73																											AGGAACCTCCAGGTCCAGTCC	0.483000													6	42					0	0	0.003080	0	0
GPR152	390212	broad.mit.edu	37	11	67219578	67219578	+	Silent	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr11:67219578G>C	ENST00000312457.2	-	1	622	c.618C>G	c.(616-618)ctC>ctG	p.L206L		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	206						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L206L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CGAGCAGCAGGAGGAAAGGCA	0.677000													9	45					0	0	0.006214	0	0
CYP2U1	113612	broad.mit.edu	37	4	108866647	108866647	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr4:108866647G>A	ENST00000332884.6	+	2	1287	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Missense_Mutation_p.D129N	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	338					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.D338N(1)		breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		CAGCAGTTTTGATGAAGAGTA	0.413000													18	73					0	0	0.006122	0	0
PTPRA	5786	broad.mit.edu	37	20	3007825	3007825	+	Silent	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr20:3007825G>A	ENST00000216877.6	+	18	2140	c.1740G>A	c.(1738-1740)gtG>gtA	p.V580V	PTPRA_ENST00000425918.2_Silent_p.V600V|PTPRA_ENST00000399903.2_Silent_p.V589V|PTPRA_ENST00000380393.3_Silent_p.V589V|PTPRA_ENST00000358719.4_Silent_p.V445V|PTPRA_ENST00000356147.3_Silent_p.V580V|PTPRA_ENST00000318266.5_Silent_p.V580V	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	589	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.V589V(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGACTATGTGAACGCATCCT	0.493000													19	136					0	0	0.006122	0	0
FAT1	2195	broad.mit.edu	37	4	187540912	187540912	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr4:187540912G>C	ENST00000441802.2	-	10	7037	c.6828C>G	c.(6826-6828)atC>atG	p.I2276M		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2276	Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.I2276M(1)|p.I2279M(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGTTATCATTGATGTCGTCTA	0.493000										HNSCC(5;0.00058)			20	114					0	0	0.008871	0	0
CATSPER2	117155	broad.mit.edu	37	15	43940187	43940187	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr15:43940187T>C	ENST00000396879.1	-	3	185	c.73A>G	c.(73-75)Act>Gct	p.T25A	CATSPER2_ENST00000464721.1_Intron|CATSPER2_ENST00000354127.4_Missense_Mutation_p.T25A|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000381761.1_Missense_Mutation_p.T31A|CATSPER2_ENST00000321596.5_Missense_Mutation_p.T25A|CATSPER2_ENST00000355438.2_Missense_Mutation_p.T25A	NM_001282309.1	NP_001269238.1	Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	25					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	p.T25A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGAGAGAAAGTATCGATGAGA	0.473000													55	282					0	0	0.014410	0	0
ZNF613	79898	broad.mit.edu	37	19	52448817	52448817	+	Missense_Mutation	SNP	G	G	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr19:52448817G>T	ENST00000293471.6	+	6	2360	c.1681G>T	c.(1681-1683)Gat>Tat	p.D561Y	ZNF613_ENST00000391794.4_Missense_Mutation_p.D525Y|ZNF613_ENST00000601794.1_Intron	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D561Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		ACATACACGTGATCTCATACA	0.428000													4	44					2.56e-06	2.77015e-06	0.009096	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110460508	110460508	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr8:110460508T>A	ENST00000378402.5	+	39	6017	c.5913T>A	c.(5911-5913)gaT>gaA	p.D1971E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1971	IPT/TIG 12.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.D1973E(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCGTGGGAGATCATGCTGGGG	0.408000										HNSCC(38;0.096)			4	16					0	0	0.009096	0	0
NUP214	8021	broad.mit.edu	37	9	134026017	134026017	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr9:134026017G>C	ENST00000359428.5	+	16	2286	c.2142G>C	c.(2140-2142)caG>caC	p.Q714H	NUP214_ENST00000411637.2_Missense_Mutation_p.Q704H|NUP214_ENST00000451030.1_Missense_Mutation_p.Q715H|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	714	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	p.Q714H(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CACACTTTCAGAAGGAGTTGG	0.458000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								16	83					0	0	0.004007	0	0
YIPF6	286451	broad.mit.edu	37	X	67741303	67741303	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chrX:67741303C>T	ENST00000462683.1	+	5	1142	c.398C>T	c.(397-399)aCc>aTc	p.T133I	YIPF6_ENST00000374622.2_Missense_Mutation_p.T90I	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	133						endoplasmic reticulum|integral to membrane		p.T133I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						GGTGCAGTTACCATCACCCTC	0.403000													16	70					0	0	0.004990	0	0
NBPF1	55672	broad.mit.edu	37	1	16907273	16907273	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr1:16907273C>T	ENST00000430580.2	-	16	2445	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	520	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGACATTCATCATGAGAGGAT	0.463000													83	673					0	0	0.014410	0	0
CYP2C9	1559	broad.mit.edu	37	10	96707610	96707610	+	Missense_Mutation	SNP	C	C	T	rs150435881		TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr10:96707610C>T	ENST00000260682.6	+	4	568	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	186					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	p.R186C(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TTTCCATAAACGTTTTGATTA	0.373000													11	45					0	0	0.010729	0	0
VCX3B	425054	broad.mit.edu	37	X	8433508	8433508	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chrX:8433508G>A	ENST00000381032.1	+	2	324	c.17G>A	c.(16-18)aGa>aAa	p.R6K	VCX3B_ENST00000440654.2_Missense_Mutation_p.R6K|VCX3B_ENST00000381029.4_Missense_Mutation_p.R6K|VCX3B_ENST00000444481.1_Missense_Mutation_p.R6K|VCX3B_ENST00000453306.1_Missense_Mutation_p.R6K	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	6						nucleolus		p.R6K(1)		NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						CCAAAGCCGAGAGCCTCGGGA	0.612000													25	67					0	0	0.006320	0	0
CCR5	1234	broad.mit.edu	37	3	46414642	46414642	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr3:46414642C>T	ENST00000343801.4	+	3	606	c.249C>T	c.(247-249)gtC>gtT	p.V83V	CCR5_ENST00000445772.1_Silent_p.V83V|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000292303.4_Silent_p.V83V	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	83					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	p.V83V(1)		central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TTCTTACTGTCCCCTTCTGGG	0.473000													35	162					0	0	0.012213	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140306514	140306514	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr5:140306514G>A	ENST00000253807.2	+	1	37	c.37G>A	c.(37-39)Gtt>Att	p.V13I	PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.V13I|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018898.3	NP_061721.2												p.V13I(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTTTGTGGGTTTCCTGCGG	0.632000													5	50					0	0	0.014758	0	0
SRPRB	58477	broad.mit.edu	37	3	133524732	133524732	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr3:133524732G>A	ENST00000466490.2	+	2	325	c.40G>A	c.(40-42)Ggt>Agt	p.G14S		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	14						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	p.G14S(1)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						AGATGGCGGCGGTGCCGGGGG	0.672000													14	49					0	0	0.004007	0	0
EFTUD2	9343	broad.mit.edu	37	17	42937868	42937868	+	Silent	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:42937868G>A	ENST00000426333.2	-	17	1948	c.1651C>T	c.(1651-1653)Ctg>Ttg	p.L551L	EFTUD2_ENST00000592576.1_Silent_p.L541L|EFTUD2_ENST00000402521.3_Silent_p.L516L|EFTUD2_ENST00000591382.1_Silent_p.L551L	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	551						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	p.L551L(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CCTTCAATCAGAACCCAGTTG	0.478000													16	89					0	0	0.004007	0	0
ASPA	443	broad.mit.edu	37	17	3402335	3402335	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:3402335A>T	ENST00000263080.2	+	6	1053	c.895A>T	c.(895-897)Act>Tct	p.T299S	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.T299S	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	299					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding	p.T299S(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TGCAAAGACAACTAAACTAAC	0.433000													5	35					0	0	0.001168	0	0
TTC25	83538	broad.mit.edu	37	17	40093047	40093047	+	RNA	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:40093047G>A	ENST00000591658.1	+	0	560							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding	p.M164I(2)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				CTCAGCCCATGAAACACCTCT	0.552000													13	62					0	0	0.013537	0	0
DISP1	84976	broad.mit.edu	37	1	223178660	223178660	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr1:223178660G>C	ENST00000284476.6	+	8	4085	c.3921G>C	c.(3919-3921)caG>caC	p.Q1307H		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1307					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.Q1307H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GCTTTGTCCAGATCCAAAACG	0.577000													18	87					0	0	0.012319	0	0
ZNF765	91661	broad.mit.edu	37	19	53912233	53912233	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr19:53912233C>T	ENST00000396408.3	+	4	1542	c.1425C>T	c.(1423-1425)ttC>ttT	p.F475F	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F475F(1)		endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		GCAAGACCTTCAGCCGGACGT	0.378000													11	87					0	0	0.013537	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:178098810C>T	ENST00000397062.3	-	2	789	c.235G>A	c.(235-237)Gag>Aag	p.E79K	NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63K|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63K	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			23	44					0	0	0.016522	0	0
SART1	9092	broad.mit.edu	37	11	65729273	65729273	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr11:65729273C>G	ENST00000312397.5	+	1	114	c.22C>G	c.(22-24)Cgc>Ggc	p.R8G	SART1_ENST00000528573.1_3'UTR	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	8					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		p.R8G(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CAAGAAGCATCGCGGAGAGAA	0.687000													8	15					0	0	0.004482	0	0
ENPP3	5169	broad.mit.edu	37	6	131979502	131979502	+	Silent	SNP	A	A	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr6:131979502A>G	ENST00000414305.1	+	7	832	c.504A>G	c.(502-504)ggA>ggG	p.G168G	ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000358229.5_Silent_p.G168G|ENPP3_ENST00000543135.1_Silent_p.G134G|ENPP3_ENST00000427148.2_Silent_p.G134G|ENPP3_ENST00000357639.3_Silent_p.G168G			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	168	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.G168G(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)		CTATGGATGGATTTAGAGCTG	0.338000													3	23					0	0	0.009096	0	0
ATXN2L	11273	broad.mit.edu	37	16	28847414	28847414	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr16:28847414C>T	ENST00000336783.4	+	22	3223	c.3056C>T	c.(3055-3057)tCa>tTa	p.S1019L	ATXN2L_ENST00000395547.2_Missense_Mutation_p.S1019L|ATXN2L_ENST00000564304.1_Missense_Mutation_p.S1025L|ATXN2L_ENST00000340394.8_Missense_Mutation_p.S1019L|ATXN2L_ENST00000325215.6_Missense_Mutation_p.S1019L|ATXN2L_ENST00000382686.4_Missense_Mutation_p.S1019L|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Missense_Mutation_p.S1019L	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1019						membrane		p.S1019L(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCACACCCTCACCCTACCCC	0.647000													21	93					0	0	0.016522	0	0
GABRA1	2554	broad.mit.edu	37	5	161300148	161300148	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr5:161300148G>A	ENST00000428797.2	+	6	636	c.281G>A	c.(280-282)cGt>cAt	p.R94H	GABRA1_ENST00000444819.1_Missense_Mutation_p.R94H|GABRA1_ENST00000437025.2_Missense_Mutation_p.R94H|GABRA1_ENST00000023897.6_Missense_Mutation_p.R94H|GABRA1_ENST00000393943.4_Missense_Mutation_p.R94H|GABRA1_ENST00000420560.1_Missense_Mutation_p.R94H	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	94					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.R94H(2)|p.R94L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	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)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GTATTTTTCCGTCAAAGCTGG	0.373000													4	35					0	0	0.009096	0	0
ARID1B	57492	broad.mit.edu	37	6	157517418	157517418	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr6:157517418C>T	ENST00000346085.5	+	16	3983	c.3982C>T	c.(3982-3984)Cag>Tag	p.Q1328*	ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q1310*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q1368*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q1315*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1315					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.Q1328*(1)|p.Q1310*(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCAGCGCCAGCAGTTTCCCTA	0.478000													34	167					0	0	0.019004	0	0
SHPRH	257218	broad.mit.edu	37	6	146275906	146275906	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr6:146275906T>C	ENST00000367503.3	-	2	951	c.553A>G	c.(553-555)Atg>Gtg	p.M185V	SHPRH_ENST00000275233.7_Missense_Mutation_p.M185V|SHPRH_ENST00000367505.2_Missense_Mutation_p.M185V|SHPRH_ENST00000438092.2_Missense_Mutation_p.M185V	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	185				M -> V (in Ref. 3; CAH18145).	DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.M185V(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TCTTCTAACATTTCACCACTG	0.363000													19	46					0	0	0.007413	0	0
ATP10A	57194	broad.mit.edu	37	15	25963405	25963405	+	Missense_Mutation	SNP	T	T	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr15:25963405T>A	ENST00000356865.6	-	8	1616	c.1505A>T	c.(1504-1506)cAc>cTc	p.H502L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	502					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.H502L(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CGTGCGCCGGTGGGACTTGGT	0.687000													4	22					0	0	0.014758	0	0
ZBTB32	27033	broad.mit.edu	37	19	36206379	36206379	+	Missense_Mutation	SNP	G	G	A			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr19:36206379G>A	ENST00000392197.2	+	3	1169	c.851G>A	c.(850-852)gGa>gAa	p.G284E	ZBTB32_ENST00000262630.3_Missense_Mutation_p.G284E			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	284					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	p.G284E(1)		large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCACCACTGGAGCCTGGCAG	0.672000													22	100					0	0	0.016522	0	0
FAM127A	8933	broad.mit.edu	37	X	134166743	134166743	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chrX:134166743C>T	ENST00000257013.7	+	1	411	c.330C>T	c.(328-330)gaC>gaT	p.D110D	FAM127A_ENST00000464369.1_Intron	NM_001078171.1	NP_001071639.1	A6ZKI3	F127A_HUMAN	family with sequence similarity 127, member A	110								p.R5*(1)|p.D110D(1)		endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					GGGAGGAGGACGAGGACTTCT	0.657000													8	30					0	0	0.004482	0	0
NINL	22981	broad.mit.edu	37	20	25481640	25481640	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr20:25481640C>G	ENST00000278886.6	-	8	941	c.868G>C	c.(868-870)Gag>Cag	p.E290Q	NINL_ENST00000422516.1_Missense_Mutation_p.E290Q	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	290					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	p.E290Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCGCTCTCCTCTGGGACCTGC	0.607000													6	17					0	0	0.003080	0	0
C19orf54	284325	broad.mit.edu	37	19	41248515	41248515	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr19:41248515C>T	ENST00000378313.2	-	6	998	c.879G>A	c.(877-879)aaG>aaA	p.K293K	C19orf54_ENST00000598485.2_Intron|C19orf54_ENST00000339153.3_Silent_p.K121K|C19orf54_ENST00000598729.1_Silent_p.K121K|C19orf54_ENST00000470681.1_3'UTR	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	293								p.K293K(1)|p.R152K(1)|p.R152T(1)		breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGTGCCAACTCTTGCCCTGCT	0.662000													3	26					0	0	0.004672	0	0
CHD7	55636	broad.mit.edu	37	8	61769208	61769208	+	Missense_Mutation	SNP	A	A	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr8:61769208A>T	ENST00000423902.2	+	34	7848	c.7369A>T	c.(7369-7371)Aat>Tat	p.N2457Y	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000529472.1_3'UTR	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2457					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.N2457Y(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTCTACCTCAAATTTTTCATC	0.428000													17	98					0	0	0.006122	0	0
C3P1	388503	broad.mit.edu	37	19	10169498	10169498	+	RNA	SNP	A	A	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr19:10169498A>G	ENST00000495140.1	+	0	1898																		p.S285G(1)		endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						TTTGATGGCCAGCATCGAGAG	0.567000													9	56					0	0	0.008291	0	0
KLHL36	79786	broad.mit.edu	37	16	84684521	84684521	+	Silent	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr16:84684521C>T	ENST00000564996.1	+	2	189	c.48C>T	c.(46-48)atC>atT	p.I16I	KLHL36_ENST00000258157.5_Silent_p.I16I	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	16								p.I16I(1)		endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CATACAAGATCAGCGAATCAT	0.438000													12	83					0	0	0.010729	0	0
MYH4	4622	broad.mit.edu	37	17	10366440	10366440	+	Missense_Mutation	SNP	G	G	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:10366440G>C	ENST00000255381.2	-	10	981	c.871C>G	c.(871-873)Caa>Gaa	p.Q291E	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	291	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Q291E(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GACAGGATTTGATAAAATATG	0.373000													22	68					0	0	0.012319	0	0
CEP135	9662	broad.mit.edu	37	4	56885642	56885642	+	Missense_Mutation	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr4:56885642C>T	ENST00000257287.4	+	23	3260	c.3136C>T	c.(3136-3138)Cat>Tat	p.H1046Y		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1046					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	p.H1046Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TAAAGAATTTCATTCTCACTT	0.358000													5	23					0	0	0.014758	0	0
CAMKK2	10645	broad.mit.edu	37	12	121693608	121693608	+	Splice_Site	SNP	C	C	T			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr12:121693608C>T	ENST00000324774.5	-	8	1625		c.e8-1		CAMKK2_ENST00000446440.2_Splice_Site|CAMKK2_ENST00000545538.1_Splice_Site|CAMKK2_ENST00000538733.1_Splice_Site|CAMKK2_ENST00000337174.3_Splice_Site|CAMKK2_ENST00000404169.3_Splice_Site|CAMKK2_ENST00000347034.2_Splice_Site|CAMKK2_ENST00000392474.2_Splice_Site|CAMKK2_ENST00000392473.2_Splice_Site|CAMKK2_ENST00000412367.2_Splice_Site|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000402834.4_Splice_Site	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta						calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	p.?(2)		endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGTTCGAACACTGTAGGGAAG	0.527000													6	30					0	0	0.001984	0	0
VDAC2	7417	broad.mit.edu	37	10	76980680	76980680	+	Missense_Mutation	SNP	A	A	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr10:76980680A>C	ENST00000535553.1	+	8	775	c.419A>C	c.(418-420)aAc>aCc	p.N140T	VDAC2_ENST00000332211.6_Missense_Mutation_p.N179T|VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000313132.4_Missense_Mutation_p.N194T|VDAC2_ENST00000543351.1_Missense_Mutation_p.N179T			P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	179						mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	p.N179T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	ACAAGGAATAACTTTGCAGTG	0.473000													11	55					0	0	0.008291	0	0
PMM1	5372	broad.mit.edu	37	22	41980593	41980593	+	Missense_Mutation	SNP	C	C	G			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr22:41980593C>G	ENST00000216259.7	-	3	304	c.220G>C	c.(220-222)Gat>Cat	p.D74H	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	74					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity	p.D74H(1)		NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						AACACATAATCAAACTTCTCA	0.547000													20	107					0	0	0.008871	0	0
PAX4	5078	broad.mit.edu	37	7	127255466	127255466	+	Missense_Mutation	SNP	G	G	A	rs35155575	byFrequency	TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr7:127255466G>A	ENST00000341640.2	-	1	314	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	PAX4_ENST00000338516.3_Missense_Mutation_p.R45W|PAX4_ENST00000463946.1_De_novo_Start_InFrame|PAX4_ENST00000378740.2_Missense_Mutation_p.R37W	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	45	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R37W(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TTAAGGATCCGTGAGATGTCA	0.602000													13	107					0	0	0.003163	0	0
C2orf42	54980	broad.mit.edu	37	2	70409093	70409093	+	Missense_Mutation	SNP	T	T	C			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr2:70409093T>C	ENST00000264434.2	-	3	404	c.25A>G	c.(25-27)Aaa>Gaa	p.K9E	C2orf42_ENST00000420306.1_Missense_Mutation_p.K9E|C2orf42_ENST00000470096.1_5'UTR	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	9								p.K9E(1)		endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						GCTGGGACTTTAGTCCTCAGA	0.438000													13	46					0	0	0.003163	0	0
ARID1A	8289	broad.mit.edu	37	1	27094409	27094410	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr1:27094409_27094410delAA	ENST00000324856.7	+	11	3488_3489	c.3117_3118delAA	c.(3115-3120)acaaatfs	p.N1040fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.N1040fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.N657fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1040	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGGGCATGACAAATCTGCCTGC	0.535			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								69	98	---	---	---	---					
GLIS1	148979	broad.mit.edu	37	1	53975643	53975644	+	Frame_Shift_Ins	INS	-	-	G	rs149623150	by1000genomes	TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr1:53975643_53975644insG	ENST00000312233.2	-	8	1981_1982	c.1415_1416insC	c.(1414-1416)ccgfs	p.P472fs		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	472	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGGGCAGCGGCGGTGGCCCCAG	0.688													2	4	---	---	---	---					
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs70994948		TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683													2	4	---	---	---	---					
RUNX2	860	broad.mit.edu	37	6	45514577	45514577	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr6:45514577delG	ENST00000371438.1	+	8	1459	c.1101delG	c.(1099-1101)ctgfs	p.L367fs	RUNX2_ENST00000371436.6_Frame_Shift_Del_p.L345fs|RUNX2_ENST00000371432.3_Frame_Shift_Del_p.L331fs|RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000352853.5_Frame_Shift_Del_p.L435fs|RUNX2_ENST00000359524.5_Frame_Shift_Del_p.L353fs|RUNX2_ENST00000465038.2_Frame_Shift_Del_p.L367fs|RUNX2_ENST00000541979.1_Frame_Shift_Del_p.L413fs	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	367	Interaction with MYST3 (By similarity).|Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTTCAGAACTGGGCCCTTTTT	0.393													15	80	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25415774	25415774	+	RNA	DEL	A	A	-			TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr15:25415774delA	ENST00000553149.1	+	0	251																											GCTGAAGCTCAGGCCATTCCT	0.652													12	60	---	---	---	---					
PDXDC1	23042	broad.mit.edu	37	16	15110963	15110989	+	Splice_Site	DEL	GTTTTTTCTTCCAGTGTGAATCTGGCA	GTTTTTTCTTCCAGTGTGAATCTGGCA	-	rs3205773		TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr16:15110963_15110989delGTTTTTTCTTCCAGTGTGAATCTGGCA	ENST00000396410.4	+	10	909_922	c.812_825delGTTTTTTCTTCCAGTGTGAATCTGGCA	c.(811-825)ggttttttcttccag>g	p.GFFFQ271del	PDXDC1_ENST00000535621.2_Splice_Site_p.GFFFQ271del|PDXDC1_ENST00000455313.2_Splice_Site_p.GFFFQ248del|PDXDC1_ENST00000563679.1_Splice_Site_p.GFFFQ289del|PDXDC1_ENST00000325823.7_Splice_Site_p.GFFFQ256del|PDXDC1_ENST00000450288.2_Splice_Site_p.GFFFQ243del|PDXDC1_ENST00000447912.2_Splice_Site_p.GFFFQ180del|PDXDC1_ENST00000569715.1_Splice_Site_p.GFFFQ244del	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	271					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TTGGACTGGTGTTTTTTCTTCCAGTGTGAATCTGGCAACATTGGCTC	0.348													8	702	---	---	---	---					
LOC100131347	100131347	broad.mit.edu	37	17	37213527	37213528	+	RNA	INS	-	-	TTG	rs71141752		TCGA-BL-A13I-01A-11D-A13W-08	TCGA-BL-A13I-11A-11D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa490522-7bb9-4f82-8f19-eaf63f719bfe	5e1e29aa-bf11-4297-9681-e883ca7558d3	g.chr17:37213527_37213528insTTG	ENST00000583447.1	+	0	141					NR_036551.1																						GAAGGACTCttttttttttttt	0.550													3	4	---	---	---	---