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
CIC	23152	broad.mit.edu	37	19	42791817	42791817	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr19:42791817G>T	ENST00000572681.2	+	6	3498	c.3430G>T	c.(3430-3432)Ggc>Tgc	p.G1144C	CIC_ENST00000575354.2_Missense_Mutation_p.G235C|CIC_ENST00000160740.3_Missense_Mutation_p.G235C			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	235	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGATCCTGGGCGAGTGGTG	0.612000			"""Mis, F, S"""		oligodendroglioma								41	23					2.45108e-15	2.48879e-15	1	1	0
PCDHGC3	0	broad.mit.edu	37	5	140857769	140857769	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr5:140857769C>A	ENST00000308177.3	+	1	2190	c.2086C>A	c.(2086-2088)Ctt>Att	p.L696I	PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATCTACTTCTTTCTCTAAT	0.488000											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	198	260					1.98392e-77	2.07839e-77	1	1	0
DOCK4	9732	broad.mit.edu	37	7	111512564	111512564	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr7:111512564G>A	ENST00000428084.1	-	18	2073	c.1801C>T	c.(1801-1803)Ctc>Ttc	p.L601F	DOCK4_ENST00000437633.1_Missense_Mutation_p.L601F|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	601	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AATTTAGAGAGACAGCCAGTG	0.328000													3	6					0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6301937	6301937	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr8:6301937C>T	ENST00000344683.5	+	8	770	c.694C>T	c.(694-696)Cac>Tac	p.H232Y	MCPH1_ENST00000522905.1_Missense_Mutation_p.H184Y|MCPH1_ENST00000519480.1_Missense_Mutation_p.H232Y	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	232						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TGGTGGCTTACACTCATCTTT	0.338000													20	36					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89971261	89971261	+	Splice_Site	SNP	A	A	G			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr5:89971261A>G	ENST00000405460.2	+	24	5408	c.5313_splice	c.e24+1	p.Q1771_splice	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1771	Calx-beta 12.				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			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)		GAGGATTACCAGGTAATTTAC	0.433000													8	16					0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38723787	38723787	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr14:38723787C>T	ENST00000342213.2	-	1	1787	c.1441G>A	c.(1441-1443)Gcg>Acg	p.A481T		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	481						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGGGACTCCGCCAGCAAGGCA	0.547000													47	103					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29888271	29888271	+	Splice_Site	SNP	T	T	G			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr16:29888271T>G	ENST00000308713.5	-	12	2437	c.1909_splice	c.e12-1	p.E637_splice	SEZ6L2_ENST00000537485.1_Splice_Site_p.E593_splice|SEZ6L2_ENST00000350527.3_Splice_Site_p.E567_splice|SEZ6L2_ENST00000346932.5_Splice_Site_p.E523_splice	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	637	CUB 3.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCGGGACCTCTGCAGGGGA	0.667000													16	33					0	0	1	0	0
AGR3	155465	broad.mit.edu	37	7	16918142	16918142	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr7:16918142A>G	ENST00000310398.2	-	2	171	c.101T>C	c.(100-102)cTc>cCc	p.L34P	AGR3_ENST00000402239.3_Missense_Mutation_p.L34P	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	34						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		ACCTCTTGAGAGTGTCTGAGG	0.383000													19	29					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220142262	220142262	+	Silent	SNP	T	T	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr1:220142262T>A	ENST00000366923.3	-	32	4694	c.4425A>T	c.(4423-4425)ggA>ggT	p.G1475G		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1475	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	GGCTTTTAGCTCCCATGGATG	0.433000													32	42					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7231068	7231068	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr17:7231068G>A	ENST00000399464.2	-	2	433	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	NEURL4_ENST00000570460.1_Missense_Mutation_p.R140C|NEURL4_ENST00000315614.7_Missense_Mutation_p.R140C	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AACACAGAGCGTCCATCTCTC	0.642000													68	90					0	0	1	0	0
SKAP2	8935	broad.mit.edu	37	7	26729921	26729921	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr7:26729921C>T	ENST00000345317.2	-	10	1170	c.857G>A	c.(856-858)aGt>aAt	p.S286N	SKAP2_ENST00000539623.1_Missense_Mutation_p.S114N	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	286					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GTGATGGACACTATCCTGACT	0.378000													20	43					0	0	1	0	0
PBDC1	51260	broad.mit.edu	37	X	75397598	75397598	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:75397598A>T	ENST00000373358.3	+	6	760	c.557A>T	c.(556-558)aAc>aTc	p.N186I	PBDC1_ENST00000373357.3_Missense_Mutation_p.T149S	NM_016500.3	NP_057584.2			polysaccharide biosynthesis domain containing 1																		gaagaagagaacaccaagaat	0.413000													11	16					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195410689	195410689	+	RNA	SNP	C	C	T	rs6583275	by1000genomes	TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:195410689C>T	ENST00000445430.1	+	0	1886																											CTTTGAGGTGCACTGGAGGAA	0.567000													3	28					0	0	1	0	0
RBMXL1	494115	broad.mit.edu	37	1	89448560	89448560	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr1:89448560C>T	ENST00000399794.2	-	3	1665	c.950G>A	c.(949-951)cGt>cAt	p.R317H	CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.R317H|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	317	Ser-rich.						nucleotide binding|RNA binding										ATATCCATCACGTGAGCTGCT	0.498000													113	42					0	0	1	0	0
TUBBP5	0	broad.mit.edu	37	9	141070116	141070116	+	RNA	SNP	G	G	A	rs142836124	by1000genomes	TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr9:141070116G>A	ENST00000503395.1	+	0	1196																		p.R77H(1)									GACTCTGTGCGCTCGGGGCCC	0.687000													4	120					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151162901	151162901	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:151162901T>C	ENST00000282466.3	-	4	4867	c.4868A>G	c.(4867-4869)aAg>aGg	p.K1623R		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1623					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AACTGGTTTCTTATCAAAGTC	0.438000													51	63					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513494	99513494	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:99513494C>T	ENST00000261037.3	+	5	1129	c.749C>T	c.(748-750)gCg>gTg	p.A250V	COL8A1_ENST00000273342.4_Missense_Mutation_p.A250V	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	250	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ATGCCAGGTGCGCCAGGTGTA	0.642000													66	121					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46722851	46722851	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:46722851G>A	ENST00000318962.4	-	13	1404	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W	ALS2CL_ENST00000415953.1_Missense_Mutation_p.R441W	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	441					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AATCCGTGCCGCAGGCCCTCC	0.637000													5	190					0	0	1	0	0
DPY19L2P1	0	broad.mit.edu	37	7	35131548	35131548	+	RNA	SNP	G	G	A	rs144021252	by1000genomes	TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr7:35131548G>A	ENST00000436258.1	-	0	1821																											TGGCACCTGCGAAGACAGCAT	0.388000													3	32					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54957391	54957391	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:54957391A>T	ENST00000173898.7	+	12	4346	c.4234A>T	c.(4234-4236)Acc>Tcc	p.T1412S	TRO_ENST00000375041.2_Missense_Mutation_p.T1015S|TRO_ENST00000319167.8_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.T943S	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1412	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGGACCGAGCACCAGTGCTGG	0.587000													23	26					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17744930	17744930	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:17744930G>T	ENST00000380060.3	+	6	2979	c.2641G>T	c.(2641-2643)Gaa>Taa	p.E881*	NHS_ENST00000398097.3_Nonsense_Mutation_p.E725*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	881						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TTCTCGAATGGAAAACGCCAA	0.468000													68	78					1.34159e-35	1.38352e-35	1	1	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													4	305					0	0	1	0	0
SDS	10993	broad.mit.edu	37	12	113830761	113830761	+	Silent	SNP	A	A	G			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr12:113830761A>G	ENST00000257549.4	-	8	1094	c.972T>C	c.(970-972)aaT>aaC	p.N324N		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	324					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TGGGCAACCTATTTGTCATGC	0.617000													138	190					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28847394	28847394	+	Silent	SNP	A	A	G			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr16:28847394A>G	ENST00000336783.4	+	22	3203	c.3036A>G	c.(3034-3036)gcA>gcG	p.A1012A	ATXN2L_ENST00000564304.1_Silent_p.A1018A|ATXN2L_ENST00000382686.4_Silent_p.A1012A|ATXN2L_ENST00000340394.8_Silent_p.A1012A|ATXN2L_ENST00000325215.6_Silent_p.A1012A|ATXN2L_ENST00000570200.1_Silent_p.A1012A|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Silent_p.A1012A	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1012						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GGGTGCCTGCACTCTCAGCTT	0.687000													61	99					0	0	1	0	0
AGPAT2	10555	broad.mit.edu	37	9	139571516	139571516	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr9:139571516C>T	ENST00000371696.2	-	3	454	c.389G>A	c.(388-390)gGc>gAc	p.G130D	AGPAT2_ENST00000538402.1_Missense_Mutation_p.G130D|AGPAT2_ENST00000371694.3_Missense_Mutation_p.G130D	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	130					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CATGATGAGGCCCACGGGCCC	0.637000													73	113					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195410687	195410687	+	RNA	SNP	T	T	A	rs6583274	by1000genomes	TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884																											CCCTTTGAGGTGCACTGGAGG	0.567000													3	27					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20387485	20387485	+	Nonsense_Mutation	SNP	G	G	A	rs139247719		TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr16:20387485G>A	ENST00000302451.4	-	4	696	c.448C>T	c.(448-450)Cga>Tga	p.R150*		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	150					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CTAATTTGTCGTCTCAACCAA	0.463000													30	34					0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1557703	1557703	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr16:1557703G>A	ENST00000262319.6	+	20	2672	c.2393G>A	c.(2392-2394)cGg>cAg	p.R798Q		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	798						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CTGGAAGCCCGGTCCTGGCTG	0.647000													13	22					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								24	30					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43483866	43483866	+	Silent	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr7:43483866G>A	ENST00000395891.1	+	11	1700	c.1095G>A	c.(1093-1095)caG>caA	p.Q365Q	HECW1_ENST00000453890.1_Silent_p.Q365Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	365					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCCAAATTCAGGACAGCCCCA	0.532000													22	45					0	0	1	0	0
TDGF1P3	0	broad.mit.edu	37	X	109764561	109764561	+	RNA	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:109764561G>A	ENST00000602699.1	+	0	1022					NR_002718.2																						AGCGTGTGCTGCCCATGGGAA	0.572000													47	54					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101373567	101373567	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:101373567G>A	ENST00000312938.4	-	8	2870	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	764					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGATAGCCTCGAACCTCAGGC	0.363000													28	38					0	0	1	0	0
ASMTL	8623	broad.mit.edu	37	X	1551213	1551213	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:1551213G>A	ENST00000534940.1	-	6	509	c.284C>T	c.(283-285)tCg>tTg	p.S95L	ASMTL_ENST00000381333.4_Missense_Mutation_p.S137L|ASMTL_ENST00000416733.2_Missense_Mutation_p.S77L|ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000381317.3_Missense_Mutation_p.S153L	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	153	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGACAGCTCCGAGAACTTCAC	0.637000													27	18					0	0	1	0	0
EZR	7430	broad.mit.edu	37	6	159188410	159188410	+	Silent	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr6:159188410G>A	ENST00000367075.3	-	13	1647	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	EZR_ENST00000337147.7_Silent_p.G493G|EZR_ENST00000392177.4_Silent_p.G461G	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	493	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TGGGCTCTGCGCCCTCATCCT	0.642000			T	ROS1	NSCLC								43	93					0	0	1	0	0
PRSS57	400668	broad.mit.edu	37	19	691902	691902	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr19:691902C>T	ENST00000329267.7	-	3	366	c.337G>A	c.(337-339)Gac>Aac	p.D113N		NM_214710.3	NP_999875.1	Q6UWY2	PRS57_HUMAN	protease, serine, 57	113	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|lung(5)	6						GGGTGGTAGTCGGGGTGTGTG	0.622000													19	45					0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1405304	1405304	+	Silent	SNP	C	C	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr10:1405304C>T	ENST00000381312.1	-	3	1321	c.996G>A	c.(994-996)gcG>gcA	p.A332A		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	332	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTGCGGCCTGCGCGGCCTGAC	0.746000													9	6					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135405392	135405392	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:135405392C>T	ENST00000394143.1	+	5	817	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C	GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.R176C|GPR112_ENST00000287534.4_Missense_Mutation_p.R113C|GPR112_ENST00000412101.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	176					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R176S(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAGCATGATGCGTAGCTTTCC	0.448000													79	85					0	0	1	0	0
PRKAR1A	5573	broad.mit.edu	37	17	66526499	66526499	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr17:66526499G>A	ENST00000589228.1	+	11	1183	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	PRKAR1A_ENST00000588188.2_Intron|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.R352Q|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.R352Q|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.R352Q|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.R352Q	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	352					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					AAGCTGGACCGACCTAGATTT	0.488000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				55	69					0	0	1	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67859118	67859118	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr16:67859118G>A	ENST00000388833.3	+	7	972	c.595G>A	c.(595-597)Gca>Aca	p.A199T	TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.A184T|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.A253T|TSNAXIP1_ENST00000562321.1_3'UTR	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	199					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GATCCTCATCGCAGACCTGAA	0.542000													43	57					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96018613	96018613	+	Silent	SNP	C	C	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr9:96018613C>T	ENST00000297954.4	+	9	2067	c.2067C>T	c.(2065-2067)ccC>ccT	p.P689P	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Silent_p.P301P|WNK2_ENST00000395475.2_Intron|WNK2_ENST00000395477.2_Silent_p.P689P|WNK2_ENST00000427277.2_Silent_p.P301P			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	689					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TCCCGGCCCCCGCCTGCCCTC	0.751000													7	10					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			17	22					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358832	72358832	+	Silent	SNP	A	A	C			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr10:72358832A>C	ENST00000441259.1	-	3	805	c.645T>G	c.(643-645)ctT>ctG	p.L215L	PRF1_ENST00000373209.2_Silent_p.L215L	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	215	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						AGTTGGAGATAAGCCTGAGGT	0.662000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				30	40					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132159579	132159579	+	Silent	SNP	T	T	C			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:132159579T>C	ENST00000511190.1	-	6	3139	c.2670A>G	c.(2668-2670)gaA>gaG	p.E890E	USP26_ENST00000406273.1_Silent_p.E890E|USP26_ENST00000370832.1_Silent_p.E890E	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	890					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCAACATCTCTTCAAAGATCT	0.458000													29	38					0	0	1	0	0
GK	2710	broad.mit.edu	37	X	30739086	30739086	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:30739086G>A	ENST00000378943.3	+	17	1636	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q	RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000427190.1_Missense_Mutation_p.R287Q|GK_ENST00000378945.3_Missense_Mutation_p.R486Q|GK_ENST00000378946.3_Missense_Mutation_p.R492Q|GK-AS1_ENST00000464659.1_RNA	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	492					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						ACGATGGAGCGGTTTGAACCT	0.502000													21	25					0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95425134	95425134	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr10:95425134G>A	ENST00000371447.3	+	22	2674	c.2536G>A	c.(2536-2538)Ggt>Agt	p.G846S	PDE6C_ENST00000475427.2_3'UTR	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	846					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AGATTCAGGAGGTGGTGATGA	0.313000													9	28					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	30					0	0	1	0	0
DENND2D	79961	broad.mit.edu	37	1	111738675	111738675	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr1:111738675G>C	ENST00000357640.4	-	6	737	c.508C>G	c.(508-510)Ctg>Gtg	p.L170V	DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Missense_Mutation_p.L167V	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	170	DENN.									breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		ACTTCATCCAGGATCTGCAGG	0.552000													30	7					0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73636332	73636332	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr13:73636332G>A	ENST00000377687.4	+	2	1131	c.595G>A	c.(595-597)Gca>Aca	p.A199T	KLF5_ENST00000539231.1_Missense_Mutation_p.A108T|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	199					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		ACACCAGACCGCAGCTCCAGA	0.532000													46	42					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2732375	2732375	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr18:2732375A>G	ENST00000320876.6	+	25	3499	c.3161A>G	c.(3160-3162)cAt>cGt	p.H1054R	SMCHD1_ENST00000261598.8_Missense_Mutation_p.H1054R|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1054					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CAGATCAAACATCAGGATGAG	0.363000													33	50					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158746704	158746704	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr1:158746704C>T	ENST00000339258.1	-	1	721	c.722G>A	c.(721-723)tGt>tAt	p.C241Y		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					ATGTGAGGCACAGGTAGAAAA	0.433000													22	25					0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4388941	4388941	+	Silent	SNP	T	T	C			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr11:4388941T>C	ENST00000408920.2	-	1	675	c.585A>G	c.(583-585)cgA>cgG	p.R195R		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAATGTTTATTCGAATGTCAT	0.343000													27	47					0	0	1	0	0
RP11-69H14.6	0	broad.mit.edu	37	15	22332432	22332432	+	RNA	SNP	C	C	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr15:22332432C>T	ENST00000558896.1	+	0	239																											AAGATTCTAACGTGACAGAAC	0.343000													5	72					0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44641108	44641108	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr20:44641108C>T	ENST00000372330.3	+	8	1236	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	406					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TTCGGCCACGCGCTGGGCTTA	0.637000													37	53					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114058129	114058129	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:114058129T>C	ENST00000462705.1	-	12	2551	c.1730A>G	c.(1729-1731)aAc>aGc	p.N577S	ZBTB20_ENST00000393785.2_Missense_Mutation_p.N577S|ZBTB20_ENST00000471418.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000464560.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000481632.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000357258.3_Missense_Mutation_p.N577S|ZBTB20_ENST00000474710.1_Missense_Mutation_p.N650S	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CATGTGCACGTTGAGGGAGCT	0.527000													75	134					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542000													5	110					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148068962	148068962	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:148068962A>G	ENST00000370460.2	+	20	4168	c.3689A>G	c.(3688-3690)aAt>aGt	p.N1230S	AFF2_ENST00000342251.3_Missense_Mutation_p.N1197S|AFF2_ENST00000286437.5_Missense_Mutation_p.N871S|AFF2_ENST00000370457.5_Missense_Mutation_p.N1195S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1230					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AACTGTAACAATGGCCCAGTC	0.532000													67	86					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40041653	40041653	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr12:40041653C>A	ENST00000324616.5	+	6	598	c.444C>A	c.(442-444)tgC>tgA	p.C148*	C12orf40_ENST00000398716.1_Nonsense_Mutation_p.C71*|C12orf40_ENST00000405531.3_Nonsense_Mutation_p.C148*	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	148										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TAGAGAACTGCAGTTTCACTC	0.353000													3	20					0.115264	0.115264	1	1	0
ESPNP	0	broad.mit.edu	37	1	17034105	17034105	+	RNA	DEL	C	C	-			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr1:17034105delC	ENST00000492551.1	-	0	498					NR_026567.1																						GCCGAGATCTCCCCGCCGTGC	0.741													2	4	---	---	---	---					
ZCCHC10	54819	broad.mit.edu	37	5	132334445	132334446	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr5:132334445_132334446insT	ENST00000324170.3	-	4	408_409	c.342_343insA	c.(340-345)tcaggafs	p.G115fs	ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000355372.2_Frame_Shift_Ins_p.G131fs|ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000509437.1_Frame_Shift_Ins_p.G137fs|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000513848.1_Frame_Shift_Ins_p.G101fs	NM_017665.1	NP_060135.1	Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	137	Ser-rich.						nucleic acid binding|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCACTGTCCTCTGAGGAGGAAG	0.480													12	22	---	---	---	---					
LINC00518	0	broad.mit.edu	37	6	10430699	10430701	+	RNA	DEL	TTT	TTT	-	rs79230388		TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr6:10430699_10430701delTTT	ENST00000496285.1	-	0	489					NR_027793.1																						CTCTGACTAGttttttttttttt	0.448													5	8	---	---	---	---					
ZNF292	23036	broad.mit.edu	37	6	87964502	87964503	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr6:87964502_87964503insA	ENST00000369577.3	+	8	1198_1199	c.1155_1156insA	c.(1153-1158)gtaacgfs	p.T386fs	ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.T381fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATCTGGAAGTTAAACGTGCTTG	0.376													19	39	---	---	---	---					
TNRC18	84629	broad.mit.edu	37	7	5428871	5428871	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr7:5428871delG	ENST00000399537.4	-	5	932	c.584delC	c.(583-585)cgfs	p.P195fs	TNRC18_ENST00000430969.1_Frame_Shift_Del_p.P195fs			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	195							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCCTTTGGCCGGGGCGCCCGA	0.776													2	4	---	---	---	---					
USP35	57558	broad.mit.edu	37	11	77907849	77907849	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr11:77907849delG	ENST00000529308.1	+	2	819	c.558delG	c.(556-558)gtfs	p.V186fs	USP35_ENST00000441408.2_5'UTR|USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	186					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			AGGGCGCCGTGGAGTTCCTAG	0.711													2	4	---	---	---	---					
BCOR	54880	broad.mit.edu	37	X	39930292	39930292	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:39930292delG	ENST00000342274.4	-	6	3534	c.3172delC	c.(3172-3174)agfs	p.Q1058fs	BCOR_ENST00000397354.3_Frame_Shift_Del_p.Q1058fs|BCOR_ENST00000378444.4_Frame_Shift_Del_p.Q1058fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.Q1040fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1058					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TTTTTGTCCTGATTTCCTTTC	0.493			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						40	58	---	---	---	---