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
CYP2B6	1555	broad.mit.edu	37	19	41518596	41518596	+	Silent	SNP	C	C	G			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr19:41518596C>G	ENST00000324071.4	+	8	1177	c.1170C>G	c.(1168-1170)ctC>ctG	p.L390L	CYP2B6_ENST00000593831.1_Silent_p.L154L|CYP2B6_ENST00000330446.5_Silent_p.L190L	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	390					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	AAGTATTTCTCATCCTGAGCA	0.448000													51	106					0	0	0.014410	0	0
KMT2D	8085	broad.mit.edu	37	12	49433218	49433218	+	Splice_Site	SNP	C	C	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr12:49433218C>A	ENST00000301067.7	-	32	8228	c.8229G>T	c.(8227-8229)caG>caT	p.Q2743H		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CTCTACCTACCTGTGTCCCAG	0.597000													8	27					5.18039e-06	7.02016e-06	0.003080	1	0
CXCL12	6387	broad.mit.edu	37	10	44873249	44873249	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr10:44873249A>G	ENST00000395794.2	-	4	414	c.371T>C	c.(370-372)aTc>aCc	p.I124T	CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000374426.2_Intron|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000343575.6_3'UTR	NM_001178134.1	NP_001171605.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	0					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	CCAAAGACGGATCTCACAGAG	0.607000													6	16					0	0	0.004482	0	0
ZBTB46	140685	broad.mit.edu	37	20	62421673	62421673	+	Silent	SNP	G	G	A	rs142438754	byFrequency	TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr20:62421673G>A	ENST00000245663.4	-	2	588	c.438C>T	c.(436-438)atC>atT	p.I146I	ZBTB46_ENST00000395104.1_Silent_p.I146I|ZBTB46_ENST00000302995.2_Silent_p.I146I	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					ACGAGGCGCCGATCTCGAACT	0.617000													9	20					0	0	0.008291	0	0
RABGAP1	23637	broad.mit.edu	37	9	125746950	125746950	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr9:125746950G>T	ENST00000373647.4	+	3	471	c.337G>T	c.(337-339)Ggg>Tgg	p.G113W		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	113					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GCCATTAGTAGGGCTCCAAAA	0.453000													7	48					8.12818e-05	0.000106179	0.001984	1	0
IKZF2	22807	broad.mit.edu	37	2	213872245	213872245	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr2:213872245C>G	ENST00000457361.1	-	8	1588	c.1420G>C	c.(1420-1422)Gag>Cag	p.E474Q	IKZF2_ENST00000421754.2_Missense_Mutation_p.E400Q|IKZF2_ENST00000374327.4_Missense_Mutation_p.E329Q|IKZF2_ENST00000434687.1_Missense_Mutation_p.E474Q|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000374319.4_Missense_Mutation_p.E448Q|IKZF2_ENST00000342002.2_Missense_Mutation_p.E480Q|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000451136.2_Missense_Mutation_p.E402Q	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CGGCAGTGCTCACACTTGAAG	0.498000													17	118					0	0	0.007413	0	0
FBN3	84467	broad.mit.edu	37	19	8131048	8131048	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr19:8131048C>A	ENST00000600128.1	-	64	8599	c.8185G>T	c.(8185-8187)Gcc>Tcc	p.A2729S	FBN3_ENST00000601739.1_Missense_Mutation_p.A2729S|FBN3_ENST00000270509.2_Missense_Mutation_p.A2729S			Q75N90	FBN3_HUMAN	fibrillin 3	2729						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCTCCAGGGCCGGCCGGAGC	0.662000													7	44					0.000157383	0.000200181	0.003080	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125298899	125298899	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chrX:125298899G>A	ENST00000538699.1	-	2	1089	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R337C	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	337										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TTCTGCTGGCGCTGGCGCGGA	0.627000													4	75					0	0	0.009096	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417951	150417951	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr7:150417951C>G	ENST00000307194.5	+	3	999	c.859C>G	c.(859-861)Ctg>Gtg	p.L287V		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGCGCGCTCCTGTTCTGGGT	0.682000													4	5					0	0	0.000602	0	0
APLP2	334	broad.mit.edu	37	11	130005576	130005576	+	Silent	SNP	C	C	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr11:130005576C>T	ENST00000263574.5	+	13	1875	c.1803C>T	c.(1801-1803)ccC>ccT	p.P601P	APLP2_ENST00000543137.1_Silent_p.P508P|APLP2_ENST00000338167.5_Silent_p.P601P|APLP2_ENST00000539648.1_Silent_p.P389P|APLP2_ENST00000278756.7_Silent_p.P611P|APLP2_ENST00000345598.5_Silent_p.P372P|APLP2_ENST00000528499.1_Silent_p.P545P	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	601					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CGTTCCACCCCTTCCACCCCT	0.577000													26	61					0	0	0.006320	0	0
CDHR3	222256	broad.mit.edu	37	7	105615295	105615295	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr7:105615295G>T	ENST00000542731.1	+	2	160	c.52G>T	c.(52-54)Gaa>Taa	p.E18*	CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000541203.1_Nonsense_Mutation_p.E18*|CDHR3_ENST00000478080.1_Intron|CDHR3_ENST00000317716.9_Nonsense_Mutation_p.E18*|CDHR3_ENST00000343407.5_5'UTR			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	18					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CACAGGGGGAGAAGCACTACA	0.473000													8	110					5.18039e-06	7.02016e-06	0.003080	1	0
MALAT1	378938	broad.mit.edu	37	11	65266271	65266271	+	RNA	SNP	T	T	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr11:65266271T>A	ENST00000534336.1	+	0	1039					NR_002819.2																						GATTTCCATGTTTCTTTTGTC	0.363000													24	147					0	0	0.003954	0	0
FRY	10129	broad.mit.edu	37	13	32757159	32757159	+	Silent	SNP	A	A	G			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr13:32757159A>G	ENST00000380250.3	+	24	3538	c.3042A>G	c.(3040-3042)gaA>gaG	p.E1014E		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1014					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAGCTCTGGAAAGAAGACCAG	0.323000													8	62					0	0	0.006214	0	0
EPPK1	83481	broad.mit.edu	37	8	144947044	144947044	+	Silent	SNP	G	G	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr8:144947044G>A	ENST00000525985.1	-	2	449	c.378C>T	c.(376-378)taC>taT	p.Y126Y				P58107	EPIPL_HUMAN	epiplakin 1	126						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTCACCGCCGTAGGGGTCAG	0.667000													15	50					0	0	0.004007	0	0
ABCA13	154664	broad.mit.edu	37	7	48375056	48375056	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr7:48375056C>G	ENST00000435803.1	+	28	10061	c.10037C>G	c.(10036-10038)aCt>aGt	p.T3346S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3346					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAACTAAAAACTTTATCAGAA	0.398000													11	58					0	0	0.008291	0	0
MTBP	27085	broad.mit.edu	37	8	121500533	121500533	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr8:121500533C>A	ENST00000305949.1	+	12	1345	c.1300C>A	c.(1300-1302)Cat>Aat	p.H434N		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	434					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CAATTTAATTCATGGAAAGAT	0.348000													7	38					3.09899e-07	4.58523e-07	0.004482	1	0
MGAT1	4245	broad.mit.edu	37	5	180219548	180219548	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr5:180219548C>A	ENST00000446023.2	-	3	1174	c.424G>T	c.(424-426)Gac>Tac	p.D142Y	MGAT1_ENST00000427865.2_Missense_Mutation_p.D142Y|MGAT1_ENST00000393340.3_Missense_Mutation_p.D142Y|MGAT1_ENST00000307826.4_Missense_Mutation_p.D142Y|MGAT1_ENST00000333055.3_Missense_Mutation_p.D142Y	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	142					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCCCGCAGTCCTGGCTAACG	0.672000													19	31					5.35267e-07	7.68452e-07	0.007413	1	0
HOXA7	3204	broad.mit.edu	37	7	27195993	27195993	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr7:27195993T>A	ENST00000242159.3	-	1	305	c.172A>T	c.(172-174)Aac>Tac	p.N58Y		NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	58					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						AGGGGGCTGTTGACATTGTAT	0.652000													26	65					0	0	0.004656	0	0
OR8I2	120586	broad.mit.edu	37	11	55861545	55861545	+	Silent	SNP	G	G	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr11:55861545G>A	ENST00000302124.2	+	1	793	c.762G>A	c.(760-762)ctG>ctA	p.L254L		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ATGGGTCTCTGATTTTCACCT	0.502000													22	120					0	0	0.014323	0	0
KMT2D	8085	broad.mit.edu	37	12	49433217	49433217	+	Splice_Site	SNP	C	C	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr12:49433217C>A	ENST00000301067.7	-	32	8229		c.e32+1			NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ACTCTACCTACCTGTGTCCCA	0.597000													8	27					5.18039e-06	7.02016e-06	0.003080	1	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72685542	72685542	+	RNA	SNP	G	G	A	rs2539086		TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr7:72685542G>A	ENST00000425256.1	-	0	116																											ACGTTACCATGACAAAAGCAG	0.463000													4	116					0	0	0.006214	0	0
C7	730	broad.mit.edu	37	5	40936538	40936538	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr5:40936538T>G	ENST00000313164.9	+	5	738	c.379T>G	c.(379-381)Tcc>Gcc	p.S127A		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	127	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AAGGAGACCTTCCTGTGATAT	0.438000													4	22					0	0	0.009096	0	0
GSTT1	2952	broad.mit.edu	37	22	24384187	24384187	+	Silent	SNP	G	G	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr22:24384187G>A	ENST00000248935.5	-	1	97	c.45C>T	c.(43-45)cgC>cgT	p.R15R	GSTT1_ENST00000439996.2_5'UTR	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN	glutathione S-transferase theta 1	15	GST N-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	TGTAAACAGCGCGGCAGGGCT	0.577000									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial				70	25					0	0	0.014410	0	0
LNPEP	4012	broad.mit.edu	37	5	96339207	96339207	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr5:96339207A>G	ENST00000231368.5	+	9	2434	c.1742A>G	c.(1741-1743)tAt>tGt	p.Y581C	LNPEP_ENST00000395770.3_Missense_Mutation_p.Y567C	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	581					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AATCACAGCTATGCATCTATT	0.353000													11	62					0	0	0.010729	0	0
AK8	158067	broad.mit.edu	37	9	135601202	135601202	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr9:135601202C>T	ENST00000298545.3	-	13	1834	c.1313G>A	c.(1312-1314)aGg>aAg	p.R438K	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	438	Adenylate kinase.					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						AGCTGAGTTCCTGTAGAACAG	0.527000													9	15					0	0	0.006214	0	0
OR10K2	391107	broad.mit.edu	37	1	158390585	158390585	+	Silent	SNP	C	C	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr1:158390585C>T	ENST00000314902.2	-	1	71	c.72G>A	c.(70-72)caG>caA	p.Q24Q		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGAGCAGCTGCTGCAGCCTGG	0.522000													28	65					0	0	0.005443	0	0
HERC2	8924	broad.mit.edu	37	15	28501094	28501094	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr15:28501094T>A	ENST00000261609.7	-	19	2903	c.2795A>T	c.(2794-2796)gAt>gTt	p.D932V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	932					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CACCAGAAGATCAATCATGAA	0.488000													10	59					0	0	0.010729	0	0
CCSER1	401145	broad.mit.edu	37	4	91230145	91230145	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr4:91230145G>T	ENST00000509176.1	+	2	998	c.710G>T	c.(709-711)cGg>cTg	p.R237L	CCSER1_ENST00000333691.8_Missense_Mutation_p.R237L|CCSER1_ENST00000432775.2_Missense_Mutation_p.R237L	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		GTAACAGAACGGGCAGGAAGC	0.428000													9	83					5.4927e-09	8.3836e-09	0.004482	1	0
SELENBP1	8991	broad.mit.edu	37	1	151337031	151337031	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr1:151337031G>T	ENST00000435071.1	-	12	1677	c.1215C>A	c.(1213-1215)gaC>gaA	p.D405E	SELENBP1_ENST00000368868.5_Missense_Mutation_p.D469E|SELENBP1_ENST00000426705.2_Missense_Mutation_p.D511E|SELENBP1_ENST00000447402.3_Missense_Mutation_p.D407E			Q13228	SBP1_HUMAN	selenium binding protein 1	469					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AAATCCAGATGTCAGAGCTAC	0.582000													17	119					0.000566183	0.000713883	0.004990	1	0
CHD6	84181	broad.mit.edu	37	20	40042085	40042085	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr20:40042085G>A	ENST00000373233.3	-	35	7187	c.7010C>T	c.(7009-7011)tCg>tTg	p.S2337L	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2337					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTCAGGAGCCGAGGTGGCAGG	0.572000													7	33					0	0	0.001984	0	0
STAG1	10274	broad.mit.edu	37	3	136152474	136152474	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr3:136152474A>C	ENST00000383202.2	-	16	1830	c.1574T>G	c.(1573-1575)cTt>cGt	p.L525R	STAG1_ENST00000236698.5_Missense_Mutation_p.L525R|STAG1_ENST00000536929.1_Missense_Mutation_p.L109R|STAG1_ENST00000434713.2_Missense_Mutation_p.L299R	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	525					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TAGCTCTATAAGAGCACTCTC	0.393000													21	50					0	0	0.004656	0	0
SEC31B	25956	broad.mit.edu	37	10	102265906	102265906	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr10:102265906C>A	ENST00000370345.3	-	9	1032	c.935G>T	c.(934-936)tGc>tTc	p.C312F	SEC31B_ENST00000370329.5_Missense_Mutation_p.C315F|SEC31B_ENST00000451524.1_Missense_Mutation_p.C312F|SEC31B_ENST00000535773.1_Missense_Mutation_p.C155F	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	312					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GTCCCGAGGGCACCACTGCAC	0.507000													5	94					0.000602214	0.000746334	0.000602	1	0
CARD11	84433	broad.mit.edu	37	7	2978386	2978386	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr7:2978386T>C	ENST00000396946.4	-	7	1347	c.944A>G	c.(943-945)gAc>gGc	p.D315G		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	315					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTCCTGCCTGTCCTCCAGGGC	0.657000			Mis		DLBCL								17	29					0	0	0.004007	0	0
RANBP10	57610	broad.mit.edu	37	16	67763673	67763673	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr16:67763673A>T	ENST00000317506.3	-	9	1172	c.1057T>A	c.(1057-1059)Tcc>Acc	p.S353T	RANBP10_ENST00000536251.1_Missense_Mutation_p.S124T|RANBP10_ENST00000602677.1_Missense_Mutation_p.S353T|RANBP10_ENST00000448631.2_Missense_Mutation_p.S297T|RANBP10_ENST00000411657.2_Missense_Mutation_p.S236T	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	353	Ser-rich.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GGGCTTCGGGAGCTCAAACTT	0.602000													13	113					0	0	0.013537	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720582	140720582	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr5:140720582G>A	ENST00000394576.2	+	1	2044	c.2044G>A	c.(2044-2046)Gcc>Acc	p.A682T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCCCTCCGCCATACCCAA	0.682000													45	91					0	0	0.014410	0	0
MGAT1	4245	broad.mit.edu	37	5	180219549	180219549	+	Missense_Mutation	SNP	C	C	A	rs150335707		TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr5:180219549C>A	ENST00000446023.2	-	3	1173	c.423G>T	c.(421-423)caG>caT	p.Q141H	MGAT1_ENST00000427865.2_Missense_Mutation_p.Q141H|MGAT1_ENST00000393340.3_Missense_Mutation_p.Q141H|MGAT1_ENST00000307826.4_Missense_Mutation_p.Q141H|MGAT1_ENST00000333055.3_Missense_Mutation_p.Q141H	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	141					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCGCAGTCCTGGCTAACGA	0.672000													19	30					5.35267e-07	7.68452e-07	0.007413	1	0
RASGEF1A	221002	broad.mit.edu	37	10	43695680	43695680	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr10:43695680C>G	ENST00000395809.1	-	6	3212	c.706G>C	c.(706-708)Gag>Cag	p.E236Q	RASGEF1A_ENST00000472864.1_5'UTR|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.E244Q|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.E236Q			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	236	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						ATCAAGTCCTCAGGGTAAATG	0.587000													3	10					0	0	0.009096	0	0
RNF10	9921	broad.mit.edu	37	12	121001343	121001343	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr12:121001343G>T	ENST00000325954.4	+	9	1909	c.1448G>T	c.(1447-1449)tGc>tTc	p.C483F	RNF10_ENST00000413266.2_Missense_Mutation_p.C488F	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	483					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGACCATTTGCACTGAGTCC	0.532000													16	40					2.48551e-13	3.91737e-13	0.004990	1	0
PIWIL3	440822	broad.mit.edu	37	22	25124271	25124271	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr22:25124271C>A	ENST00000332271.5	-	15	2221	c.1805G>T	c.(1804-1806)tGc>tTc	p.C602F	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.C484F|PIWIL3_ENST00000527701.1_Missense_Mutation_p.C484F	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	602	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGGAATTGGGCATTTGGTACA	0.428000													13	139					1.5842e-08	2.3928e-08	0.001855	1	0
LRRC7	57554	broad.mit.edu	37	1	70478699	70478699	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr1:70478699A>G	ENST00000310961.5	+	14	1496	c.1078A>G	c.(1078-1080)Aac>Gac	p.N360D	LRRC7_ENST00000035383.5_Missense_Mutation_p.N355D|LRRC7_ENST00000415775.2_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	355						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCTACGCTCCAACAAATTAGA	0.323000													37	95					0	0	0.007835	0	0
CSMD3	114788	broad.mit.edu	37	8	113237073	113237073	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr8:113237073G>T	ENST00000297405.5	-	71	11295	c.11051C>A	c.(11050-11052)aCc>aAc	p.T3684N	CSMD3_ENST00000455883.2_Missense_Mutation_p.T3515N|CSMD3_ENST00000352409.3_Missense_Mutation_p.T3614N|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3644N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3684						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTTGCGTTGGTGTCATACAT	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			29	155					1.30897e-18	2.13259e-18	0.009535	1	0
USH1G	124590	broad.mit.edu	37	17	72916416	72916416	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr17:72916416C>G	ENST00000319642.1	-	2	697	c.515G>C	c.(514-516)cGt>cCt	p.R172P		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	172					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GGTGTCGGAACGCTCGGCCAG	0.711000													19	42					0	0	0.007413	0	0
DIXDC1	85458	broad.mit.edu	37	11	111844896	111844896	+	Missense_Mutation	SNP	G	G	T	rs35148806		TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr11:111844896G>T	ENST00000440460.2	+	4	763	c.466G>T	c.(466-468)Gcc>Tcc	p.A156S	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000531396.1_Missense_Mutation_p.A156S|DIXDC1_ENST00000529225.1_Missense_Mutation_p.A155S	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	156	Actin-binding.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CACTGCTGTTGCCCAGGGAGC	0.567000													15	34					2.31682e-05	3.11055e-05	0.003163	1	0
KIAA0100	9703	broad.mit.edu	37	17	26969332	26969332	+	Silent	SNP	T	T	C			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr17:26969332T>C	ENST00000528896.2	-	6	611	c.537A>G	c.(535-537)ttA>ttG	p.L179L	KIAA0100_ENST00000389003.3_Silent_p.L36L|KIAA0100_ENST00000544884.1_Silent_p.L36L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	179						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TGATCTTACATAAGCTCACCT	0.498000													12	20					0	0	0.013537	0	0
CDH2	1000	broad.mit.edu	37	18	25573552	25573552	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr18:25573552T>C	ENST00000269141.3	-	8	1493	c.1070A>G	c.(1069-1071)aAt>aGt	p.N357S	CDH2_ENST00000399380.3_Missense_Mutation_p.N326S	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	357	Cadherin 2.			N -> I (in Ref. 1; CAA38213).	adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATATGTGGGATTGCCTTCCAT	0.408000													30	159					0	0	0.008361	0	0
CD101	9398	broad.mit.edu	37	1	117552557	117552557	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr1:117552557C>A	ENST00000256652.4	+	2	187	c.129C>A	c.(127-129)tgC>tgA	p.C43*	CD101_ENST00000369470.1_Nonsense_Mutation_p.C43*	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	43	Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCATTGGCTGCAATGTAACTG	0.502000													23	61					8.04996e-18	1.29694e-17	0.012319	1	0
NEUROD1	4760	broad.mit.edu	37	2	182543033	182543033	+	Silent	SNP	C	C	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr2:182543033C>T	ENST00000295108.3	-	2	1012	c.555G>A	c.(553-555)gcG>gcA	p.A185A	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	185				A -> G (in Ref. 2; BAA11558 and 5; BAA87605).	amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GCAGGCAGCCCGCAACCAGGT	0.607000													23	70					0	0	0.012319	0	0
KPNA1	3836	broad.mit.edu	37	3	122186193	122186193	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr3:122186193C>G	ENST00000344337.6	-	3	389	c.213G>C	c.(211-213)caG>caC	p.Q71H		NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	71					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TGTTACTAATCTGAGCCTCAT	0.348000													15	34					0	0	0.003163	0	0
FKBP9	11328	broad.mit.edu	37	7	33028146	33028146	+	Silent	SNP	G	G	A	rs138779515	byFrequency	TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr7:33028146G>A	ENST00000242209.4	+	6	1090	c.921G>A	c.(919-921)acG>acA	p.T307T	AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_Silent_p.T169T|FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000538336.1_Silent_p.T360T|FKBP9_ENST00000490776.2_Silent_p.T75T	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	307	PPIase FKBP-type 3.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CGTTTGACACGTACATTGGGC	0.502000													35	80					0	0	0.008740	0	0
LOC441666	441666	broad.mit.edu	37	10	42832104	42832104	+	RNA	SNP	G	G	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr10:42832104G>T	ENST00000609841.1	-	0	1799					NR_024380.1																						TGAATAAGGTGTGAGGAACAG	0.338000													4	8					0.000602214	0.000746334	0.000602	1	0
ANKRD42	338699	broad.mit.edu	37	11	82921405	82921405	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr11:82921405C>T	ENST00000393389.3	+	4	1326	c.394C>T	c.(394-396)Ctt>Ttt	p.L132F	ANKRD42_ENST00000531895.1_Missense_Mutation_p.L132F|ANKRD42_ENST00000260047.6_Missense_Mutation_p.L132F|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000533342.1_Missense_Mutation_p.L132F|ANKRD42_ENST00000393392.2_Missense_Mutation_p.L104F|ANKRD42_ENST00000526731.1_Missense_Mutation_p.L132F|ANKRD42_ENST00000528722.1_Missense_Mutation_p.L19F			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	104										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TCCTTTACATCTTGCTGCAAC	0.393000													25	80					0	0	0.003954	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88958024	88958024	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr9:88958024G>T	ENST00000375961.2	-	6	1266	c.1052C>A	c.(1051-1053)tCg>tAg	p.S351*	ZCCHC6_ENST00000375948.1_5'UTR|ZCCHC6_ENST00000375960.2_Nonsense_Mutation_p.S351*|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375963.3_Nonsense_Mutation_p.S351*			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	351					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	p.S351L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GTTTACATCCGAATTTTTGAA	0.303000													33	70					2.80507e-11	4.3735e-11	0.012213	1	0
AFF3	3899	broad.mit.edu	37	2	100210166	100210166	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr2:100210166G>A	ENST00000409236.2	-	13	2069	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W	AFF3_ENST00000356421.2_Missense_Mutation_p.R678W|AFF3_ENST00000317233.4_Missense_Mutation_p.R653W|AFF3_ENST00000409579.1_Missense_Mutation_p.R678W			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			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						CTTAGCCCCCGCGTGCGGCGC	0.632000													17	86					0	0	0.004990	0	0
TP53	7157	broad.mit.edu	37	17	7578239	7578239	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr17:7578239C>A	ENST00000420246.2	-	6	742	c.610G>T	c.(610-612)Gag>Tag	p.E204*	TP53_ENST00000359597.4_Nonsense_Mutation_p.E204*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E204*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E204*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E204*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E204*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	204	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|VE -> LV (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E204*(33)|p.0?(8)|p.?(5)|p.E72*(3)|p.E111*(3)|p.E204K(2)|p.E204fs*43(2)|p.E204Q(1)|p.E204fs*4(1)|p.V203_E204>V*(1)|p.V203_E204>LV(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCCAAATACTCCACACGCAAA	0.542000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	27					6.31663e-08	9.44238e-08	0.003163	1	0
EIF4G3	8672	broad.mit.edu	37	1	21177871	21177871	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr1:21177871C>A	ENST00000602326.1	-	26	4085	c.3502G>T	c.(3502-3504)Gac>Tac	p.D1168Y	EIF4G3_ENST00000536266.1_Missense_Mutation_p.D766Y|EIF4G3_ENST00000537738.1_Missense_Mutation_p.D652Y|EIF4G3_ENST00000374937.3_Missense_Mutation_p.D1168Y|EIF4G3_ENST00000400422.1_Missense_Mutation_p.D1162Y|EIF4G3_ENST00000264211.8_Missense_Mutation_p.D1162Y|EIF4G3_ENST00000374935.3_Missense_Mutation_p.D882Y	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1162					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GACTGATTGTCTAGCAGGTCT	0.542000													16	98					3.45872e-05	4.60105e-05	0.004007	1	0
TPTE2P6	374491	broad.mit.edu	37	13	25168463	25168463	+	RNA	SNP	T	T	C	rs61946940		TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr13:25168463T>C	ENST00000453498.1	+	0	1135				TPTE2P6_ENST00000440905.1_RNA																							TGACAGTCCATCTCTGTACGA	0.363000													3	19					0	0	0.009096	0	0
DLEU7	220107	broad.mit.edu	37	13	51417483	51417483	+	Silent	SNP	C	C	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr13:51417483C>T	ENST00000400393.3	-	1	592	c.300G>A	c.(298-300)ttG>ttA	p.L100L	DLEU7_ENST00000504404.1_Silent_p.L100L|DLEU7-AS1_ENST00000413510.2_RNA	NM_198989.2	NP_945340.2	Q6UYE1	LEU7_HUMAN	deleted in lymphocytic leukemia, 7	100													Acute lymphoblastic leukemia(7;1.03e-07)|Lung NSC(96;0.000818)|Breast(56;0.00122)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.25e-08)		GGAAGGGCAGCAACTCGGCGC	0.761000													4	1					0	0	0.009096	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88952370	88952370	+	Silent	SNP	C	C	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr9:88952370C>T	ENST00000375961.2	-	10	1633	c.1419G>A	c.(1417-1419)agG>agA	p.R473R	ZCCHC6_ENST00000375948.1_Silent_p.R111R|ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375963.3_Silent_p.R473R			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	473					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GGGGTTCTTTCCTCTGCTGAA	0.373000													18	34					0	0	0.004990	0	0
LAMA3	3909	broad.mit.edu	37	18	21364074	21364074	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr18:21364074G>T	ENST00000313654.9	+	12	1797	c.1556G>T	c.(1555-1557)cGa>cTa	p.R519L	LAMA3_ENST00000399516.3_Missense_Mutation_p.R519L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	519	Domain V.|Laminin EGF-like 4.				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			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)	GAGGGCCCTCGATGTGATACC	0.502000													7	182					0.000157383	0.000200181	0.003080	1	0
WDR27	253769	broad.mit.edu	37	6	170068173	170068173	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr6:170068173C>T	ENST00000333572.6	-	5	1084	c.565G>A	c.(565-567)Gag>Aag	p.E189K	WDR27_ENST00000448612.1_Missense_Mutation_p.E189K|WDR27_ENST00000420344.2_Intron|WDR27_ENST00000423258.1_Intron			A2RRH5	WDR27_HUMAN	WD repeat domain 27	159										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CCCTGCAGCTCGGCCCGAACA	0.582000													4	58					0	0	0.000602	0	0
MALAT1	378938	broad.mit.edu	37	11	65266270	65266270	+	RNA	SNP	G	G	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr11:65266270G>T	ENST00000534336.1	+	0	1038					NR_002819.2																						TGATTTCCATGTTTCTTTTGT	0.368000													25	147					2.44723e-14	3.89943e-14	0.004656	1	0
TYW1	55253	broad.mit.edu	37	7	66463885	66463885	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr7:66463885G>A	ENST00000359626.5	+	3	381	c.217G>A	c.(217-219)Gac>Aac	p.D73N		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	73					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	p.D73N(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TCAAGAGAAAGACATCTTTGT	0.368000													14	65					0	0	0.001855	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C	rs76635225		TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956																				breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488000													3	35					0	0	0.004672	0	0
MUC16	94025	broad.mit.edu	37	19	9065495	9065495	+	Silent	SNP	G	G	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr19:9065495G>A	ENST00000397910.4	-	3	22154	c.21951C>T	c.(21949-21951)atC>atT	p.I7317I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7319	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTCTGCCAGGATGGGGGAAG	0.458000													15	62					0	0	0.003163	0	0
FNDC1	84624	broad.mit.edu	37	6	159682221	159682221	+	Splice_Site	SNP	G	G	C			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr6:159682221G>C	ENST00000297267.9	+	19	5374		c.e19-1		FNDC1_ENST00000340366.6_Splice_Site	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1							extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCCAACTTCAGGTATTATTTT	0.398000													18	55					0	0	0.006122	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162338	90162338	+	RNA	SNP	T	T	C			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr16:90162338T>C	ENST00000564451.1	+	0	1691				TUBB8P7_ENST00000567960.1_RNA																							GACATCCCACTCCGGGGGCTA	0.483000													3	151					0	0	0.009096	0	0
EGLN2	112398	broad.mit.edu	37	19	41307012	41307012	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr19:41307012C>G	ENST00000593726.1	+	1	1563	c.535C>G	c.(535-537)Ctg>Gtg	p.L179V	EGLN2_ENST00000406058.2_Missense_Mutation_p.L179V|RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000303961.4_Missense_Mutation_p.L179V			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	179					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GCGCCTGGCCCTGGACTATAT	0.687000													20	101					0	0	0.008871	0	0
KTI12	112970	broad.mit.edu	37	1	52499109	52499109	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr1:52499109G>A	ENST00000371614.1	-	1	379	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	109							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						CCGCCGGGCCGTACGCAGTAG	0.672000													4	72					0	0	0.009096	0	0
HEATR4	399671	broad.mit.edu	37	14	73989224	73989224	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr14:73989224G>C	ENST00000553558.1	-	3	954	c.633C>G	c.(631-633)aaC>aaG	p.N211K	HEATR4_ENST00000334988.2_Missense_Mutation_p.N211K|HEATR4_ENST00000560393.1_Missense_Mutation_p.N164K	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CTGTGCGCTCGTTCAGCTTTT	0.602000													10	34					0	0	0.008291	0	0
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													3	66					0	0	0.001984	0	0
PRODH	5625	broad.mit.edu	37	22	18910367	18910367	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr22:18910367G>T	ENST00000357068.6	-	6	1077	c.812C>A	c.(811-813)gCt>gAt	p.A271D	PRODH_ENST00000334029.2_Missense_Mutation_p.A163D|PRODH_ENST00000420436.1_Missense_Mutation_p.A163D	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	271					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GTCCATGGCAGCCAGGCCCGC	0.642000													8	85					0.000157383	0.000200181	0.003080	1	0
AMDHD2	51005	broad.mit.edu	37	16	2570887	2570887	+	Silent	SNP	C	C	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr16:2570887C>T	ENST00000302956.4	+	2	295	c.201C>T	c.(199-201)ttC>ttT	p.F67F	ATP6C_ENST00000569317.1_Intron|AMDHD2_ENST00000413459.3_Silent_p.F67F|AMDHD2_ENST00000293971.6_Silent_p.F67F			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	67					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						CTCCCGGATTCATCGACGTGC	0.672000													23	62					0	0	0.002780	0	0
LIMS1	3987	broad.mit.edu	37	2	109271542	109271542	+	Silent	SNP	A	A	G			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr2:109271542A>G	ENST00000542845.1	+	1	50	c.12A>G	c.(10-12)tcA>tcG	p.S4S	LIMS1_ENST00000462817.1_3'UTR|LIMS1_ENST00000544547.1_Intron|LIMS1_ENST00000332345.6_Intron|LIMS1_ENST00000338045.3_5'UTR|LIMS1_ENST00000393310.1_Intron|LIMS1_ENST00000409441.1_Intron|LIMS1_ENST00000393314.2_Silent_p.S4S|LIMS1_ENST00000410093.1_Intron			P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	0					cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						TGGCCTTCTCAGGCCGAGCGC	0.602000													3	51					0	0	0.000602	0	0
EP300	2033	broad.mit.edu	37	22	41574469	41574469	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr22:41574469G>T	ENST00000263253.7	+	31	7973	c.6754G>T	c.(6754-6756)Gag>Tag	p.E2252*	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2252					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTTGGGAGCAGAGGCAGGTGC	0.582000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				36	35					3.03874e-20	5.00701e-20	0.003271	1	0
MAT1A	4143	broad.mit.edu	37	10	82033565	82033565	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr10:82033565C>G	ENST00000372213.3	-	9	1420	c.1160G>C	c.(1159-1161)tGg>tCg	p.W387S	MAT1A_ENST00000485270.1_5'UTR	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	387					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GGGAACCTCCCATGGGAACTC	0.577000													50	145					0	0	0.014410	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85517961	85517961	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr12:85517961A>G	ENST00000393217.2	+	17	3732	c.3671A>G	c.(3670-3672)aAg>aGg	p.K1224R		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1224								p.K1224T(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACTATCACCAAGAAAGATGAA	0.408000													22	58					0	0	0.012319	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31655068	31655068	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr21:31655068G>C	ENST00000340345.4	-	1	208	c.183C>G	c.(181-183)tgC>tgG	p.C61W		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	61						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AGGATTCTTGGCAGTAATCCA	0.512000													23	48					0	0	0.002780	0	0
PON3	5446	broad.mit.edu	37	7	94992134	94992134	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr7:94992134C>A	ENST00000265627.5	-	7	725	c.715G>T	c.(715-717)Gta>Tta	p.V239L	PON3_ENST00000451904.1_Missense_Mutation_p.V239L|PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Intron	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			TTAGCTGCTACATCAGCTACA	0.368000													10	49					3.07112e-06	4.32342e-06	0.010729	1	0
SCAND3	114821	broad.mit.edu	37	6	28540209	28540209	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr6:28540209C>A	ENST00000452236.2	-	4	4074	c.3457G>T	c.(3457-3459)Gac>Tac	p.D1153Y		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1153					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tgaaacatgtcataacaatct	0.308000													8	52					5.18039e-06	7.02016e-06	0.003080	1	0
PDZD2	23037	broad.mit.edu	37	5	32048767	32048767	+	Silent	SNP	C	C	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr5:32048767C>T	ENST00000438447.1	+	8	2030	c.1642C>T	c.(1642-1644)Ctg>Ttg	p.L548L	PDZD2_ENST00000282493.3_Silent_p.L548L			O15018	PDZD2_HUMAN	PDZ domain containing 2	548					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCCGCAGCTGCTGGACTCTTC	0.552000													13	84					0	0	0.002450	0	0
CYP2C18	1562	broad.mit.edu	37	10	96484121	96484121	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr10:96484121T>C	ENST00000285979.6	+	7	1179	c.980T>C	c.(979-981)aTt>aCt	p.I327T	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.I268T	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		CAGGAAGAGATTGAATGTGTA	0.443000													23	127					0	0	0.012319	0	0
TRIM65	201292	broad.mit.edu	37	17	73887167	73887167	+	Missense_Mutation	SNP	A	A	G	rs141383528	byFrequency	TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr17:73887167A>G	ENST00000269383.3	-	6	1312	c.1247T>C	c.(1246-1248)aTt>aCt	p.I416T		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	416	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCCCGGCCAATGTTGTCTGT	0.697000													4	33					0	0	0.009096	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													3	34					0	0	0.004672	0	0
PKHD1	5314	broad.mit.edu	37	6	51923138	51923138	+	Silent	SNP	T	T	G			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr6:51923138T>G	ENST00000371117.3	-	16	1770	c.1495A>C	c.(1495-1497)Agg>Cgg	p.R499R	PKHD1_ENST00000340994.4_Silent_p.R499R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	499					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCTGGAAGCCTCTGGGCTCGG	0.537000													14	83					0	0	0.003163	0	0
IKZF2	22807	broad.mit.edu	37	2	213872378	213872378	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr2:213872378C>G	ENST00000457361.1	-	8	1455	c.1287G>C	c.(1285-1287)aaG>aaC	p.K429N	IKZF2_ENST00000421754.2_Missense_Mutation_p.K355N|IKZF2_ENST00000374327.4_Missense_Mutation_p.K284N|IKZF2_ENST00000434687.1_Missense_Mutation_p.K429N|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000374319.4_Missense_Mutation_p.K403N|IKZF2_ENST00000342002.2_Missense_Mutation_p.K435N|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000451136.2_Missense_Mutation_p.K357N	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TTTGTTTCCTCTTGGGATTTA	0.502000													35	177					0	0	0.003271	0	0
ZNF831	128611	broad.mit.edu	37	20	57828995	57828995	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr20:57828995C>T	ENST00000371030.2	+	5	4231	c.4231C>T	c.(4231-4233)Cac>Tac	p.H1411Y		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1411						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTGTACTACTCACAGCACTGC	0.488000													22	87					0	0	0.012319	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C	rs79096325		TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967																				breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498000													3	21					0	0	0.004672	0	0
KMT2C	58508	broad.mit.edu	37	7	151932973	151932973	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr7:151932973C>A	ENST00000355193.2	-	16	2916	c.2698G>T	c.(2698-2700)Gga>Tga	p.G900*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.G900*					lysine (K)-specific methyltransferase 2C																		CCCGACAGTCCTGCACCTCGA	0.488000													13	73					4.3838e-07	6.42072e-07	0.001855	1	0
LOC647323	647323	broad.mit.edu	37	3	193711613	193711613	+	RNA	SNP	T	T	C			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr3:193711613T>C	ENST00000397645.2	-	0	75				RP11-699L21.2_ENST00000426616.1_lincRNA	NR_033944.1																						TTCAGGCGTATCTTGCTGTTG	0.458000													9	17					0	0	0.004482	0	0
IKZF2	22807	broad.mit.edu	37	2	213872176	213872176	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr2:213872176C>T	ENST00000457361.1	-	8	1657	c.1489G>A	c.(1489-1491)Gac>Aac	p.D497N	IKZF2_ENST00000421754.2_Missense_Mutation_p.D423N|IKZF2_ENST00000374327.4_Missense_Mutation_p.D352N|IKZF2_ENST00000434687.1_Missense_Mutation_p.D497N|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000374319.4_Missense_Mutation_p.D471N|IKZF2_ENST00000342002.2_Missense_Mutation_p.D503N|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000451136.2_Missense_Mutation_p.D425N	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TCCAGTGGGTCCCGGTAGCCA	0.502000													15	92					0	0	0.003163	0	0
BOD1L1	259282	broad.mit.edu	37	4	13602068	13602068	+	Silent	SNP	G	G	A	rs139854434	by1000genomes	TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr4:13602068G>A	ENST00000040738.5	-	10	6591	c.6456C>T	c.(6454-6456)ttC>ttT	p.F2152F		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2152							DNA binding	p.F2152F(1)									TAGGCAATTCGAATTCTTCCC	0.493000													10	56					0	0	0.006214	0	0
TNN	63923	broad.mit.edu	37	1	175097790	175097790	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr1:175097790G>A	ENST00000239462.4	+	15	3351	c.3238G>A	c.(3238-3240)Gcc>Acc	p.A1080T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1080	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGCAATGCCGCCAGTGGTCT	0.577000													7	88					0	0	0.001984	0	0
DDR1	780	broad.mit.edu	37	6	30865139	30865139	+	Splice_Site	SNP	T	T	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr6:30865139T>A	ENST00000376575.3	+	17	2332	c.1999T>A	c.(1999-2001)Ttc>Atc	p.F667I	DDR1_ENST00000513240.1_Splice_Site_p.F667I|DDR1_ENST00000376569.3_Intron|DDR1_ENST00000508312.1_Intron|DDR1_ENST00000446312.1_Intron|DDR1_ENST00000376567.2_Intron|DDR1_ENST00000376570.4_Intron|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000452441.1_Intron|DDR1_ENST00000454612.2_Intron|DDR1_ENST00000324771.8_Intron|DDR1_ENST00000418800.2_Intron|DDR1_ENST00000376568.3_Intron			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	665	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCTCTTCAGCTTCTCCTTGTT	0.617000													4	29					0	0	0.009096	0	0
SNX33	257364	broad.mit.edu	37	15	75949429	75949429	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr15:75949429A>G	ENST00000308527.5	+	2	2795	c.1598A>G	c.(1597-1599)cAc>cGc	p.H533R		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	533	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GAGATGAACCACTTCCACCAG	0.627000													28	33					0	0	0.006320	0	0
TMEM174	134288	broad.mit.edu	37	5	72469403	72469403	+	Silent	SNP	G	G	A	rs148188850		TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr5:72469403G>A	ENST00000296776.5	+	1	382	c.333G>A	c.(331-333)tcG>tcA	p.S111S	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	111						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		TCCCGGACTCGGAACAGACAC	0.512000													39	72					0	0	0.006999	0	0
SYTL4	94121	broad.mit.edu	37	X	99934317	99934317	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chrX:99934317C>G	ENST00000455616.1	-	16	1997	c.1651G>C	c.(1651-1653)Gtc>Ctc	p.V551L	SYTL4_ENST00000372989.1_Missense_Mutation_p.V551L|SYTL4_ENST00000454200.2_Missense_Mutation_p.V553L|SYTL4_ENST00000276141.6_Missense_Mutation_p.V551L|SYTL4_ENST00000263033.5_Missense_Mutation_p.V551L			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	551	C2 2.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CACCCCTTGACAAAGCTGTCT	0.483000													12	23					0	0	0.003163	0	0
CNTLN	54875	broad.mit.edu	37	9	17395000	17395000	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr9:17395000A>G	ENST00000380647.3	+	15	2632	c.2548A>G	c.(2548-2550)Atc>Gtc	p.I850V	CNTLN_ENST00000425824.1_Missense_Mutation_p.I850V|CNTLN_ENST00000262360.5_Missense_Mutation_p.I850V			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	850						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CAATCATTCCATCAAGGTTAT	0.443000													13	49					0	0	0.003163	0	0
ZNF44	51710	broad.mit.edu	37	19	12358887	12358887	+	Silent	SNP	T	T	G			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr19:12358887T>G	ENST00000426973.1	-	4	827	c.828A>C	c.(826-828)gtA>gtC	p.V276V				P15621	ZNF44_HUMAN	zinc finger protein 44	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CTTGAAAACCTACAGAAGATA	0.388000													2	7					0	0	0.004672	0	0
TDO2	6999	broad.mit.edu	37	4	156837048	156837048	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr4:156837048A>C	ENST00000536354.2	+	9	944	c.880A>C	c.(880-882)Atg>Ctg	p.M294L		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	294					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	GGGAGCATTGATGATATATTT	0.323000													4	25					0	0	0.009096	0	0
MPDZ	8777	broad.mit.edu	37	9	13168547	13168547	+	Silent	SNP	A	A	G			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr9:13168547A>G	ENST00000319217.7	-	22	3319	c.3072T>C	c.(3070-3072)gcT>gcC	p.A1024A	MPDZ_ENST00000381022.2_Silent_p.A1024A|MPDZ_ENST00000546205.1_Silent_p.A1024A|MPDZ_ENST00000541718.1_Silent_p.A1024A|MPDZ_ENST00000536827.1_Silent_p.A1024A|MPDZ_ENST00000381015.4_Silent_p.A1024A|MPDZ_ENST00000447879.1_Silent_p.A1024A	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1024	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CATCTTTATTAGCACTAACTG	0.343000													4	201					0	0	0.009096	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617354	111617354	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr9:111617354C>A	ENST00000374667.3	-	1	1885	c.857G>T	c.(856-858)gGc>gTc	p.G286V		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	286						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GATGAGTTTGCCGTCCGGGAG	0.647000													12	71					6.40141e-05	8.43822e-05	0.010729	1	0
TMEM200A	114801	broad.mit.edu	37	6	130762473	130762473	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr6:130762473G>T	ENST00000392429.1	+	2	3284	c.906G>T	c.(904-906)gaG>gaT	p.E302D	TMEM200A_ENST00000545622.1_Missense_Mutation_p.E302D|TMEM200A_ENST00000296978.3_Missense_Mutation_p.E302D	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	302						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TTATTGATGAGCCCAGTATAG	0.418000													12	67					3.07112e-06	4.32342e-06	0.010729	1	0
IKZF2	22807	broad.mit.edu	37	2	213872657	213872657	+	Silent	SNP	C	C	G			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr2:213872657C>G	ENST00000457361.1	-	8	1176	c.1008G>C	c.(1006-1008)ctG>ctC	p.L336L	IKZF2_ENST00000421754.2_Silent_p.L262L|IKZF2_ENST00000374327.4_Silent_p.L191L|IKZF2_ENST00000434687.1_Silent_p.L336L|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000374319.4_Silent_p.L310L|IKZF2_ENST00000342002.2_Silent_p.L342L|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000451136.2_Silent_p.L264L	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GGTGCTGCATCAGAGGGTGAA	0.483000													8	63					0	0	0.006214	0	0
RP11-1022B3.1	0	broad.mit.edu	37	12	63704029	63704029	+	RNA	DEL	A	A	-			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr12:63704029delA	ENST00000551729.1	-	0	162																											ccagggccccaaaaagtgtgt	0.572													2	4	---	---	---	---					
NYNRIN	57523	broad.mit.edu	37	14	24880405	24880411	+	Splice_Site	DEL	GGTGAGA	GGTGAGA	-			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr14:24880405_24880411delGGTGAGA	ENST00000382554.3	+	5	2856_2862	c.2538_2544delGGTGAGA	c.(2536-2544)agggtgaga>ag	p.RVR846fs		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	846					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGAACCGGAGGGTGAGAGGTGAGGTGT	0.599											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	157	---	---	---	---					
CDH11	1009	broad.mit.edu	37	16	65016108	65016108	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A20X-01A-11D-A16O-08	TCGA-BT-A20X-11A-12D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b4586ee-4091-484f-8be8-5a5196fe7b6f	29cbef1d-56b7-45cf-8eb4-1c86249942f8	g.chr16:65016108delC	ENST00000394156.3	-	8	1549	c.1096delG	c.(1096-1098)gacfs	p.D366fs	CDH11_ENST00000268603.4_Frame_Shift_Del_p.D366fs|CDH11_ENST00000566827.1_Frame_Shift_Del_p.D240fs			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	366	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GTCACAGTGTCCTTGAAAGGG	0.493			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			43	109	---	---	---	---					
