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
PRRC2B	84726	broad.mit.edu	37	9	134312046	134312046	+	Silent	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr9:134312046G>A	ENST00000357304.4	+	3	388	c.333G>A	c.(331-333)ccG>ccA	p.P111P	PRRC2B_ENST00000405995.1_Silent_p.P111P|PRRC2B_ENST00000458550.1_Silent_p.P111P	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	111							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGTCGCTGCCGCAGCCGGGTT	0.612000													41	126					0	0	0.864702	0	0
DSEL	92126	broad.mit.edu	37	18	65180490	65180490	+	Silent	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr18:65180490C>T	ENST00000310045.7	-	2	2859	c.1386G>A	c.(1384-1386)caG>caA	p.Q462Q	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	452						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AGGAATATGGCTGAAAATGAA	0.448000													11	47					0	0	0.361761	0	0
ZNF619	285267	broad.mit.edu	37	3	40528373	40528373	+	Silent	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr3:40528373G>A	ENST00000447116.2	+	6	799	c.492G>A	c.(490-492)ctG>ctA	p.L164L	ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000314686.5_Silent_p.L108L|ZNF619_ENST00000522736.1_Silent_p.L115L|ZNF619_ENST00000456778.1_Silent_p.L80L|ZNF619_ENST00000432264.2_Silent_p.L124L|ZNF619_ENST00000521353.1_Silent_p.L164L|ZNF619_ENST00000429348.2_Silent_p.L124L	NM_001145082.2	NP_001138554.1	E9PCD9	E9PCD9_HUMAN	zinc finger protein 619	164					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCCACAGACTGATAGTGGAGG	0.418000													28	47					0	0	0.717897	0	0
STAU2	27067	broad.mit.edu	37	8	74600986	74600986	+	Silent	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr8:74600986C>T	ENST00000355780.5	-	4	299	c.81G>A	c.(79-81)aaG>aaA	p.K27K	STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000519961.1_Silent_p.K59K|STAU2_ENST00000521451.1_Intron|RP11-463D19.1_ENST00000533978.1_lincRNA|STAU2_ENST00000522695.1_Silent_p.K27K|STAU2_ENST00000524104.1_Silent_p.K27K|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000524300.1_Silent_p.K59K|STAU2_ENST00000522509.1_Silent_p.K27K|STAU2_ENST00000521210.1_Intron|RP11-463D19.2_ENST00000358757.5_3'UTR|STAU2_ENST00000517542.1_Silent_p.K21K|STAU2_ENST00000521419.1_Silent_p.K21K|STAU2_ENST00000521727.1_Silent_p.K39K	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	59	DRBM 1.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GCTGAGCCTTCTTTATACTGC	0.418000													48	146					0	0	0.870114	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41430198	41430198	+	RNA	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr19:41430198C>T	ENST00000599198.1	+	0	75					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						GCGTCCTCCTCTTCCTTGCAC	0.597000													10	45					0	0	0.361761	0	0
FANCL	55120	broad.mit.edu	37	2	58431328	58431328	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr2:58431328G>C	ENST00000402135.3	-	6	444	c.408C>G	c.(406-408)atC>atG	p.I136M	FANCL_ENST00000403295.3_Missense_Mutation_p.I136M|FANCL_ENST00000233741.4_Missense_Mutation_p.I136M|FANCL_ENST00000540646.1_Intron|FANCL_ENST00000403676.1_Missense_Mutation_p.I19M	NM_001114636.1	NP_001108108.1	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	136					DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						CTTTTAACTTGATGGTACTGA	0.438000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				12	80					0	0	0.387290	0	0
TFAP2B	7021	broad.mit.edu	37	6	50791193	50791193	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr6:50791193C>T	ENST00000263046.4	+	3	348	c.182C>T	c.(181-183)tCg>tTg	p.S61L	TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000393655.3_Missense_Mutation_p.S52L			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	52	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GGACCCTACTCGAGCGCCCCG	0.701000													9	18					0	0	0.335167	0	0
KCND2	3751	broad.mit.edu	37	7	120372964	120372964	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr7:120372964G>A	ENST00000331113.4	+	2	2088	c.1123G>A	c.(1123-1125)Gac>Aac	p.D375N		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	375					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CAGGTATGGTGACATGGTGCC	0.358000													17	85					0	0	0.539581	0	0
CENPJ	55835	broad.mit.edu	37	13	25479744	25479744	+	Missense_Mutation	SNP	A	A	G	rs151299406	byFrequency	TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr13:25479744A>G	ENST00000381884.4	-	7	2617	c.2432T>C	c.(2431-2433)gTt>gCt	p.V811A	CENPJ_ENST00000545981.1_Missense_Mutation_p.V811A	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	811					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CCCAAGAACAACATCATGGTT	0.413000													41	89					0	0	0.819951	0	0
SPATA31C1	441452	broad.mit.edu	37	9	90535441	90535441	+	RNA	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr9:90535441C>T	ENST00000602681.1	+	0	1345																											TCTCCTAGAACGCCCCTCACC	0.622000													77	205					0	0	0.870114	0	0
AGBL5	60509	broad.mit.edu	37	2	27276809	27276809	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr2:27276809G>A	ENST00000360131.4	+	4	592	c.433G>A	c.(433-435)Gag>Aag	p.E145K	AGBL5_ENST00000323064.8_Missense_Mutation_p.E145K|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	145					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGTTTCGTGGAGGGCCGTGG	0.542000													22	115					0	0	0.592651	0	0
SPRR1B	6699	broad.mit.edu	37	1	153005029	153005029	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr1:153005029C>T	ENST00000307098.4	+	2	273	c.208C>T	c.(208-210)Cct>Tct	p.P70S	SPRR1B_ENST00000392661.3_Missense_Mutation_p.P54S	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	70	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	p.P70S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCAAGGTGCCTGAGCCCTG	0.632000													51	95					0	0	0.870114	0	0
AATK	9625	broad.mit.edu	37	17	79095147	79095147	+	Silent	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr17:79095147C>T	ENST00000326724.4	-	11	2613	c.2589G>A	c.(2587-2589)acG>acA	p.T863T	AATK_ENST00000417379.1_Silent_p.T760T	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	863						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGGCCTCGGCCGTGTCCTCAT	0.652000													5	15					0	0	0.184627	0	0
TNFRSF14	8764	broad.mit.edu	37	1	2489176	2489176	+	Silent	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr1:2489176C>T	ENST00000355716.4	+	2	380	c.81C>T	c.(79-81)ctC>ctT	p.L27L	TNFRSF14_ENST00000409119.1_Silent_p.L27L|TNFRSF14_ENST00000442392.2_3'UTR	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	27					immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		TGCTGTATCTCACCTTCCTGG	0.642000			"""Mis, N, F"""		follicular lymphoma								3	7					0	0	0.115264	0	0
GPRASP1	9737	broad.mit.edu	37	X	101912346	101912346	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chrX:101912346C>T	ENST00000537097.1	+	6	4318	c.3505C>T	c.(3505-3507)Cct>Tct	p.P1169S	GPRASP1_ENST00000444152.1_Missense_Mutation_p.P1169S|GPRASP1_ENST00000415986.1_Missense_Mutation_p.P1169S|GPRASP1_ENST00000361600.5_Missense_Mutation_p.P1169S|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1169	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AATTCGGGATCCTTTTATTCA	0.363000													31	18					0	0	0.740014	0	0
SEZ6L	23544	broad.mit.edu	37	22	26688487	26688487	+	Silent	SNP	C	C	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr22:26688487C>A	ENST00000529632.2	+	2	406	c.210C>A	c.(208-210)ccC>ccA	p.P70P	SEZ6L_ENST00000360929.3_Silent_p.P70P|SEZ6L_ENST00000404234.3_Silent_p.P70P|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Silent_p.P70P|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000248933.6_Silent_p.P70P	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	70						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TAACAGCGCCCCCCAGTTCCT	0.632000													7	9					0.00307968	0.0031864	0.278610	1	0
NRROS	375387	broad.mit.edu	37	3	196388272	196388272	+	Silent	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr3:196388272G>A	ENST00000328557.4	+	3	1961	c.1758G>A	c.(1756-1758)ctG>ctA	p.L586L		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		CGAGAGGTCTGCGGACCATCT	0.627000													17	80					0	0	0.500413	0	0
TOB2	10766	broad.mit.edu	37	22	41832968	41832968	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr22:41832968C>A	ENST00000327492.3	-	2	1088	c.382G>T	c.(382-384)Gag>Tag	p.E128*		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	128					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CTCTTGATCTCCTTGTCCAGC	0.577000													14	25					9.31168e-06	9.829e-06	0.435327	1	0
OR4A15	81328	broad.mit.edu	37	11	55135647	55135647	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr11:55135647C>A	ENST00000314706.3	+	1	288	c.288C>A	c.(286-288)ttC>ttA	p.F96L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTTTATCATTCATAGATACCG	0.433000													8	116					0.000274275	0.000285192	0.307466	1	0
KLF10	7071	broad.mit.edu	37	8	103664525	103664525	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr8:103664525A>G	ENST00000395884.3	-	2	1006	c.104T>C	c.(103-105)aTg>aCg	p.M35T	KLF10_ENST00000285407.6_Missense_Mutation_p.M46T	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	46					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GCTCATTGACATAAGTGCTTC	0.388000													44	125					0	0	0.864702	0	0
CDH12	1010	broad.mit.edu	37	5	21751958	21751958	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr5:21751958G>C	ENST00000382254.1	-	15	3359	c.2273C>G	c.(2272-2274)aCc>aGc	p.T758S	CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.T718S|CDH12_ENST00000504376.2_Missense_Mutation_p.T758S	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	758					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GGCTTCTGTGGTGAGAGAGTC	0.522000										HNSCC(59;0.17)			21	79					0	0	0.592651	0	0
POC1A	25886	broad.mit.edu	37	3	52109975	52109975	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr3:52109975C>G	ENST00000394970.2	-	10	1325	c.1008G>C	c.(1006-1008)ttG>ttC	p.L336F	POC1A_ENST00000296484.2_Missense_Mutation_p.L384F|POC1A_ENST00000474012.1_Missense_Mutation_p.L346F	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	384						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						CTGTCAGTGTCAACCGCTGCT	0.547000													25	72					0	0	0.681144	0	0
NDRG1	10397	broad.mit.edu	37	8	134266785	134266785	+	Silent	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr8:134266785C>T	ENST00000414097.2	-	9	1458	c.591G>A	c.(589-591)ggG>ggA	p.G197G	NDRG1_ENST00000323851.7_Silent_p.G197G|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000537882.1_Silent_p.G116G|NDRG1_ENST00000522476.1_Silent_p.G131G|NDRG1_ENST00000518176.1_Intron|NDRG1_ENST00000354944.5_Silent_p.G127G	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	197					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AACTCACCTTCCCAAAAAGGT	0.542000			T	ERG	prostate								10	16					0	0	0.387290	0	0
GCNT4	51301	broad.mit.edu	37	5	74324707	74324707	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr5:74324707G>A	ENST00000322348.4	-	1	2017	c.1156C>T	c.(1156-1158)Cac>Tac	p.H386Y		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	386					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		CTTCGAAGGTGAGATCCAGTA	0.423000													11	36					0	0	0.387290	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													3	40					0	0	0.184627	0	0
TXNDC16	57544	broad.mit.edu	37	14	52899139	52899139	+	Silent	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr14:52899139G>A	ENST00000281741.4	-	21	2732	c.2361C>T	c.(2359-2361)gtC>gtT	p.V787V		NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	787					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GTTCTTTTCTGACTGCCGATT	0.373000													16	59					0	0	0.500413	0	0
CABP5	56344	broad.mit.edu	37	19	48537491	48537491	+	Silent	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr19:48537491G>A	ENST00000293255.2	-	5	607	c.477C>T	c.(475-477)gaC>gaT	p.D159D		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	159	EF-hand 4.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		CAACTGTGCCGTCTCCATTAA	0.602000													8	36					0	0	0.278610	0	0
SLU7	10569	broad.mit.edu	37	5	159840540	159840540	+	Missense_Mutation	SNP	C	C	T	rs147723488		TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr5:159840540C>T	ENST00000297151.4	-	5	880	c.493G>A	c.(493-495)Ggg>Agg	p.G165R		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	165					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCCTCTTCCCATCATAGTCA	0.423000													28	41					0	0	0.681144	0	0
TLK2	11011	broad.mit.edu	37	17	60650724	60650724	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr17:60650724G>A	ENST00000582809.1	+	13	1373	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	TLK2_ENST00000343388.7_Missense_Mutation_p.E341K|TLK2_ENST00000346027.5_Missense_Mutation_p.E373K|TLK2_ENST00000542523.1_Missense_Mutation_p.E341K|TLK2_ENST00000326270.9_Missense_Mutation_p.E373K			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	373					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AGCTGAAAATGAAACGTATGT	0.463000													6	26					0	0	0.217242	0	0
GALR3	8484	broad.mit.edu	37	22	38219405	38219405	+	Translation_Start_Site	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr22:38219405G>A	ENST00000249041.2	+	0	17					NM_003614.1	NP_003605.1	O60755	GALR3_HUMAN	galanin receptor 3						feeding behavior|learning or memory|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			endometrium(1)|liver(2)|lung(1)	4	Melanoma(58;0.045)					GTGCCCGTCTGATGGGGAGAT	0.612000													14	39					0	0	0.457914	0	0
ZNF586	54807	broad.mit.edu	37	19	58301711	58301711	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr19:58301711C>T	ENST00000598183.1	+	2	282	c.106C>T	c.(106-108)Cag>Tag	p.Q36*	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Nonsense_Mutation_p.Q36*			Q9NXT0	ZN586_HUMAN	zinc finger protein 586	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAATGAGGCTCAGGGATGCCT	0.458000													38	196					0	0	0.812448	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	52					0	0	0.115264	0	0
GZF1	64412	broad.mit.edu	37	20	23350750	23350750	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr20:23350750G>A	ENST00000338121.5	+	6	1885	c.1808G>A	c.(1807-1809)tGg>tAg	p.W603*	GZF1_ENST00000544236.1_Nonsense_Mutation_p.W127*|GZF1_ENST00000377051.2_Nonsense_Mutation_p.W603*|GZF1_ENST00000542987.1_Nonsense_Mutation_p.W112*			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	603					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AATACTCCATGGAAGTCTTTC	0.418000													8	27					0	0	0.335167	0	0
CIC	23152	broad.mit.edu	37	19	42799051	42799051	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr19:42799051G>A	ENST00000572681.2	+	21	7321	c.7253G>A	c.(7252-7254)cGt>cAt	p.R2418H	CIC_ENST00000575354.2_Missense_Mutation_p.R1512H|CIC_ENST00000160740.3_Missense_Mutation_p.R1510H			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTGAAGATCCGTGAGGTGCGC	0.627000			"""Mis, F, S"""		oligodendroglioma								12	52					0	0	0.387290	0	0
CCND1	595	broad.mit.edu	37	11	69466022	69466022	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr11:69466022C>G	ENST00000227507.2	+	5	1087	c.860C>G	c.(859-861)cCc>cGc	p.P287R		NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	287					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	p.P287L(1)|p.P287H(1)		NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	GCTTGCACACCCACCGACGTG	0.716000			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)			6	13					0	0	0.248553	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047925	42047925	+	Silent	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr1:42047925G>A	ENST00000372584.1	-	3	3558	c.2544C>T	c.(2542-2544)gtC>gtT	p.V848V	HIVEP3_ENST00000247584.5_Silent_p.V848V|HIVEP3_ENST00000372583.1_Silent_p.V848V|HIVEP3_ENST00000429157.2_Silent_p.V848V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	848	Glu/Pro-rich.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGGCTGGCGGACCAACTTAG	0.612000													18	118					0	0	0.557998	0	0
CDH18	1016	broad.mit.edu	37	5	19747183	19747183	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr5:19747183T>C	ENST00000507958.1	-	6	1381	c.391A>G	c.(391-393)Att>Gtt	p.I131V	CDH18_ENST00000502796.1_Missense_Mutation_p.I131V|CDH18_ENST00000506372.1_Missense_Mutation_p.I131V|CDH18_ENST00000511273.1_Missense_Mutation_p.I131V|CDH18_ENST00000274170.4_Missense_Mutation_p.I131V|CDH18_ENST00000382275.1_Missense_Mutation_p.I131V			Q13634	CAD18_HUMAN	cadherin 18, type 2	131	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CGTCTATCAATAGCTTGAGCA	0.423000													35	82					0	0	0.796494	0	0
CHGA	1113	broad.mit.edu	37	14	93393012	93393012	+	Silent	SNP	C	C	G			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr14:93393012C>G	ENST00000216492.5	+	3	436	c.156C>G	c.(154-156)gtC>gtG	p.V52V	CHGA_ENST00000334654.4_Silent_p.V52V|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	52	O-glycosylated at one site only in cerebrospinal fluid.				regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CCATGCCTGTCAGCCAGGAAT	0.592000													16	37					0	0	0.500413	0	0
TEX15	56154	broad.mit.edu	37	8	30705318	30705318	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr8:30705318C>G	ENST00000256246.2	-	1	1290	c.1216G>C	c.(1216-1218)Gaa>Caa	p.E406Q		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	406										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGAGCTGTTTCTATGTTATAA	0.343000													24	50					0	0	0.654019	0	0
RORC	6097	broad.mit.edu	37	1	151785468	151785468	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr1:151785468C>T	ENST00000356728.6	-	8	1331	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	RORC_ENST00000318247.6_Missense_Mutation_p.E414K|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Missense_Mutation_p.E468K	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	414	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATCTCATCCTCGGAAAAGTGC	0.532000													6	44					0	0	0.217242	0	0
FAM76A	199870	broad.mit.edu	37	1	28086046	28086046	+	Silent	SNP	T	T	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr1:28086046T>C	ENST00000373954.6	+	8	847	c.745T>C	c.(745-747)Ttg>Ctg	p.L249L	FAM76A_ENST00000419687.2_Silent_p.L169L|FAM76A_ENST00000530324.1_Silent_p.L249L|FAM76A_ENST00000010299.6_Silent_p.L283L|FAM76A_ENST00000234549.7_Silent_p.L254L|FAM76A_ENST00000373949.1_Silent_p.L220L	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	249										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		GATTACAGAGTTGAAGGCTGA	0.398000													14	31					0	0	0.479597	0	0
TMEM150B	284417	broad.mit.edu	37	19	55824344	55824344	+	Silent	SNP	G	G	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr19:55824344G>C	ENST00000326652.4	-	8	767	c.585C>G	c.(583-585)ctC>ctG	p.L195L	TMEM150B_ENST00000438693.1_Silent_p.L195L	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	195						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						AGAGACCGAAGAGCGCGAACA	0.682000													7	30					0	0	0.248553	0	0
VGF	7425	broad.mit.edu	37	7	100806715	100806715	+	Silent	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr7:100806715G>A	ENST00000249330.2	-	2	1649	c.1410C>T	c.(1408-1410)gtC>gtT	p.V470V	VGF_ENST00000445482.2_Silent_p.V470V	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	470					response to cAMP	extracellular space|transport vesicle	growth factor activity			cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					CGATGATGCTGACCACGTCGT	0.682000													11	18					0	0	0.435327	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419680	105419680	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr14:105419680G>C	ENST00000333244.5	-	7	2227	c.2108C>G	c.(2107-2109)cCg>cGg	p.P703R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	703						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTCCACCTTCGGCGCAGACAC	0.602000													68	188					0	0	0.870114	0	0
HAUS5	23354	broad.mit.edu	37	19	36110355	36110355	+	Silent	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr19:36110355C>T	ENST00000203166.5	+	14	1234	c.1209C>T	c.(1207-1209)ctC>ctT	p.L403L	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	403					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						TCCGCCTGCTCATCAAGGGAA	0.637000													6	22					0	0	0.217242	0	0
PRPS2	5634	broad.mit.edu	37	X	12837720	12837720	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chrX:12837720G>T	ENST00000380668.5	+	5	753	c.625G>T	c.(625-627)Ggc>Tgc	p.G209C	PRPS2_ENST00000398491.2_Missense_Mutation_p.G212C	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	209					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						GGTCCTGGTGGGCGACGTGAA	0.552000													107	73					2.87887e-39	3.23486e-39	0.870114	1	0
MAP3K13	9175	broad.mit.edu	37	3	185165632	185165632	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr3:185165632G>A	ENST00000265026.3	+	5	1241	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	MAP3K13_ENST00000446828.1_Missense_Mutation_p.E96K|MAP3K13_ENST00000424227.1_Missense_Mutation_p.E303K|MAP3K13_ENST00000535426.1_Missense_Mutation_p.E159K|MAP3K13_ENST00000443863.1_Missense_Mutation_p.E159K	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	303	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TACATCTAAGGAACTCAGTGA	0.383000													9	57					0	0	0.335167	0	0
IGSF10	285313	broad.mit.edu	37	3	151164237	151164237	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr3:151164237T>C	ENST00000282466.3	-	4	3531	c.3532A>G	c.(3532-3534)Aca>Gca	p.T1178A		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1178					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGTGACGATGTAATCACTGAA	0.403000													75	178					0	0	0.870114	0	0
CELA2B	51032	broad.mit.edu	37	1	15813857	15813857	+	Silent	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr1:15813857G>A	ENST00000375910.3	+	7	742	c.717G>A	c.(715-717)tcG>tcA	p.S239S		NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	239	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						GCCTCACGTCGGTCCTTGGTT	0.592000													16	104					0	0	0.500413	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161167853	161167853	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr1:161167853C>T	ENST00000367996.5	-	1	993	c.565G>A	c.(565-567)Ggt>Agt	p.G189S	ADAMTS4_ENST00000367995.3_Missense_Mutation_p.G189S	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4						proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGACCTTGACCGCTGGCAGGA	0.647000													22	36					0	0	0.608945	0	0
BIRC6	57448	broad.mit.edu	37	2	32824875	32824875	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr2:32824875C>G	ENST00000421745.2	+	70	14034	c.13900C>G	c.(13900-13902)Caa>Gaa	p.Q4634E		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4634	Ubiquitin-conjugating.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTATTTTCCTCAAGATTATCC	0.398000													14	27					0	0	0.457914	0	0
FANCM	57697	broad.mit.edu	37	14	45636324	45636324	+	Missense_Mutation	SNP	C	C	T	rs112784867	byFrequency	TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr14:45636324C>T	ENST00000267430.5	+	11	2045	c.1960C>T	c.(1960-1962)Cgg>Tgg	p.R654W	FANCM_ENST00000556036.1_Missense_Mutation_p.R654W|FANCM_ENST00000542564.2_Missense_Mutation_p.R628W	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	654					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GAAGCCTTCTCGGAACTTGCA	0.393000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				22	64					0	0	0.608945	0	0
HELZ	9931	broad.mit.edu	37	17	65163677	65163677	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr17:65163677C>T	ENST00000358691.5	-	14	1832	c.1666G>A	c.(1666-1668)Gaa>Aaa	p.E556K	HELZ_ENST00000580168.1_Missense_Mutation_p.E556K	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ATAGTAGCTTCATAAACCTTC	0.398000													12	72					0	0	0.411799	0	0
HECTD4	283450	broad.mit.edu	37	12	112684728	112684728	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr12:112684728G>C	ENST00000550722.1	-	29	4447	c.4052C>G	c.(4051-4053)tCt>tGt	p.S1351C	HECTD4_ENST00000430131.2_Missense_Mutation_p.S1075C|HECTD4_ENST00000377560.5_Missense_Mutation_p.S1325C	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AGGGGTCCCAGAGATGCTTCT	0.483000													4	27					0	0	0.150653	0	0
AFM	173	broad.mit.edu	37	4	74364927	74364927	+	Silent	SNP	T	T	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr4:74364927T>C	ENST00000226355.3	+	11	1479	c.1386T>C	c.(1384-1386)tgT>tgC	p.C462C		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	462	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTACTTGCTGTACGCTAAGTG	0.413000													8	25					0	0	0.278610	0	0
ATP7A	538	broad.mit.edu	37	X	77254135	77254135	+	Silent	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chrX:77254135C>T	ENST00000341514.6	+	5	1652	c.1497C>T	c.(1495-1497)tgC>tgT	p.C499C	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.C499C	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	499	HMA 5.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						GCATGACTTGCGCTTCCTGTG	0.408000													31	32					0	0	0.750413	0	0
TLL1	7092	broad.mit.edu	37	4	166929100	166929100	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr4:166929100G>A	ENST00000061240.2	+	7	1464	c.817G>A	c.(817-819)Gag>Aag	p.E273K	TLL1_ENST00000507499.1_Missense_Mutation_p.E273K|TLL1_ENST00000513213.1_Missense_Mutation_p.E273K	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	273	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTTAGGTCAAGAGTACAATTT	0.408000													24	65					0	0	0.693898	0	0
GRID2	2895	broad.mit.edu	37	4	94032102	94032102	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr4:94032102G>A	ENST00000282020.4	+	4	991	c.733G>A	c.(733-735)Gag>Aag	p.E245K	GRID2_ENST00000510992.1_Missense_Mutation_p.E150K|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	245					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTTCATTACTGAGGTAAGTGA	0.418000													24	50					0	0	0.639603	0	0
POC1A	25886	broad.mit.edu	37	3	52109916	52109916	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr3:52109916C>T	ENST00000394970.2	-	10	1384	c.1067G>A	c.(1066-1068)aGa>aAa	p.R356K	POC1A_ENST00000296484.2_Missense_Mutation_p.R404K|POC1A_ENST00000474012.1_Missense_Mutation_p.R366K	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	404						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						TGGTGTTGCTCTCTGCATGAT	0.512000													37	123					0	0	0.819951	0	0
RAMP2	10266	broad.mit.edu	37	17	40913918	40913918	+	Splice_Site	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr17:40913918G>A	ENST00000589683.1	+	2	304		c.e2+1		RAMP2_ENST00000587142.1_Splice_Site|RAMP2_ENST00000253796.5_Splice_Site|RAMP2_ENST00000588576.1_Splice_Site			O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2						intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	GGGTCAGAAGGTGGGTACCCA	0.617000													3	23					0	0	0.115264	0	0
MAP3K13	9175	broad.mit.edu	37	3	185165665	185165665	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr3:185165665G>C	ENST00000265026.3	+	5	1274	c.940G>C	c.(940-942)Gct>Cct	p.A314P	MAP3K13_ENST00000446828.1_Missense_Mutation_p.A107P|MAP3K13_ENST00000424227.1_Missense_Mutation_p.A314P|MAP3K13_ENST00000535426.1_Missense_Mutation_p.A170P|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A170P	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	314	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GATGTCATTTGCTGGCACGGT	0.433000													6	38					0	0	0.217242	0	0
LIFR	3977	broad.mit.edu	37	5	38489219	38489219	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr5:38489219C>T	ENST00000263409.4	-	16	2458	c.2296G>A	c.(2296-2298)Gga>Aga	p.G766R	LIFR_ENST00000453190.2_Missense_Mutation_p.G766R	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	766	Fibronectin type-III 6.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TCTCTTTCTCCTTTTCCAAAG	0.353000			T	PLAG1	salivary adenoma								20	123					0	0	0.575678	0	0
UNC13A	23025	broad.mit.edu	37	19	17756808	17756808	+	Silent	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr19:17756808G>A	ENST00000428389.2	-	19	2420	c.2421C>T	c.(2419-2421)ctC>ctT	p.L807L	UNC13A_ENST00000252773.7_Silent_p.L719L|UNC13A_ENST00000552293.1_Silent_p.L719L|UNC13A_ENST00000551649.1_Silent_p.L719L|UNC13A_ENST00000519716.2_Silent_p.L719L|UNC13A_ENST00000550896.1_Silent_p.L717L			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	719					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						ACACCGGGTTGAGGTTCCCAT	0.577000													3	12					0	0	0.115264	0	0
FCRL6	343413	broad.mit.edu	37	1	159779326	159779326	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr1:159779326A>G	ENST00000321935.6	+	6	846	c.760A>G	c.(760-762)Att>Gtt	p.I254V	FCRL6_ENST00000368106.3_Missense_Mutation_p.I247V|FCRL6_ENST00000392235.3_Missense_Mutation_p.I152V|FCRL6_ENST00000339348.5_Missense_Mutation_p.I247V	NM_001284217.1	NP_001271146.1	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	247	Ig-like C2-type 3.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					TGATGAGAAGATTGTGGGGAA	0.587000													4	49					0	0	0.184627	0	0
CC2D2A	57545	broad.mit.edu	37	4	15538624	15538624	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr4:15538624C>G	ENST00000424120.1	+	15	1943	c.1689C>G	c.(1687-1689)caC>caG	p.H563Q	CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000413206.1_Missense_Mutation_p.H563Q|CC2D2A_ENST00000503292.1_Missense_Mutation_p.H563Q|CC2D2A_ENST00000389652.5_Missense_Mutation_p.H514Q			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	563					cell projection organization	cilium|microtubule basal body		p.H514Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TAGAAGAGCACACGGAGGAGT	0.418000													3	23					0	0	0.115264	0	0
TTN	7273	broad.mit.edu	37	2	179410144	179410144	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr2:179410144G>C	ENST00000589042.1	-	344	95917	c.95693C>G	c.(95692-95694)tCc>tGc	p.S31898C	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S23025C|TTN_ENST00000591111.1_Missense_Mutation_p.S30257C|TTN_ENST00000342992.6_Missense_Mutation_p.S29330C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22958C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S22833C|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30257	Ig-like 141.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGAAGTTGGAAGCTTCGCT	0.463000													27	50					0	0	0.693898	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070111	141070111	+	RNA	SNP	T	T	C	rs139643347	by1000genomes	TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr9:141070111T>C	ENST00000503395.1	+	0	1191																		p.S75S(1)									CCATGGACTCTGTGCGCTCGG	0.697000													5	101					0	0	0.217242	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77043909	77043909	+	Silent	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr17:77043909C>T	ENST00000339142.2	+	5	1140	c.585C>T	c.(583-585)ttC>ttT	p.F195F	C1QTNF1_ENST00000392445.2_Silent_p.F195F|C1QTNF1_ENST00000580454.1_Silent_p.F195F|C1QTNF1_ENST00000581774.1_Silent_p.F195F|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000311661.4_Silent_p.F113F|C1QTNF1_ENST00000578229.1_Silent_p.F113F|C1QTNF1_ENST00000354124.3_Silent_p.F205F|C1QTNF1_ENST00000583904.1_Silent_p.F195F|C1QTNF1_ENST00000580474.1_Silent_p.F195F|C1QTNF1_ENST00000579760.1_Silent_p.F195F	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	195	C1q.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			TCTACTTCTTCAGCCTCAACG	0.557000													9	97					0	0	0.361761	0	0
INTS1	26173	broad.mit.edu	37	7	1538123	1538123	+	Silent	SNP	G	G	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr7:1538123G>C	ENST00000389470.4	-	11	1733	c.1734C>G	c.(1732-1734)ctC>ctG	p.L578L	INTS1_ENST00000404767.3_Silent_p.L450L			Q8N201	INT1_HUMAN	integrator complex subunit 1	450					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGGCGCTGGAGAGCTCATTGA	0.627000													11	14					0	0	0.387290	0	0
SESN3	143686	broad.mit.edu	37	11	94911963	94911963	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr11:94911963C>T	ENST00000536441.1	-	7	1303	c.967G>A	c.(967-969)Gat>Aat	p.D323N	RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.D184N|RP11-712B9.2_ENST00000534864.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	323					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		CGAGAGACATCAGATGTTATA	0.383000													13	32					0	0	0.435327	0	0
BIRC6	57448	broad.mit.edu	37	2	32822983	32822983	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr2:32822983C>T	ENST00000421745.2	+	69	13912	c.13778C>T	c.(13777-13779)tCa>tTa	p.S4593L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4593	Ubiquitin-conjugating.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCTCTGTCTTCATCCTCTAGT	0.463000													7	15					0	0	0.248553	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74818996	74818996	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr1:74818996G>C	ENST00000370895.1	+	12	1317	c.1282G>C	c.(1282-1284)Gat>Cat	p.D428H	TNNI3K_ENST00000370891.2_Missense_Mutation_p.D428H|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.D428H|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.D441H|TNNI3K_ENST00000326637.3_Missense_Mutation_p.D327H|RP11-439H8.4_ENST00000415549.2_RNA			Q59H18	TNI3K_HUMAN		327						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										ATTTCTTCTTGATCAGAATGT	0.368000													23	21					0	0	0.681144	0	0
SCN2A	6326	broad.mit.edu	37	2	166201365	166201365	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr2:166201365G>A	ENST00000357398.3	+	16	3153	c.2863G>A	c.(2863-2865)Ggc>Agc	p.G955S	SCN2A_ENST00000283256.6_Missense_Mutation_p.G955S|SCN2A_ENST00000375437.2_Missense_Mutation_p.G955S|SCN2A_ENST00000375427.2_Missense_Mutation_p.G955S			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	955					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GGAGGTCGCTGGCCAAACCAT	0.453000													46	81					0	0	0.870114	0	0
RHBDD2	57414	broad.mit.edu	37	7	75513057	75513057	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr7:75513057G>C	ENST00000318622.4	+	4	834	c.205G>C	c.(205-207)Gtg>Ctg	p.V69L	RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000006777.6_Missense_Mutation_p.V210L|RHBDD2_ENST00000428119.1_Missense_Mutation_p.V69L	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	210						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						CTCAGAGCGAGTGGCACTGAA	0.567000													7	151					0	0	0.248553	0	0
EFCAB7	84455	broad.mit.edu	37	1	63991283	63991283	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr1:63991283C>G	ENST00000371088.4	+	2	286	c.40C>G	c.(40-42)Cag>Gag	p.Q14E		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	14							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						TTTCTCCAGTCAGAAATCAAC	0.358000													31	57					0	0	0.769981	0	0
KDM4C	23081	broad.mit.edu	37	9	6793112	6793112	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr9:6793112C>A	ENST00000381309.3	+	2	689	c.124C>A	c.(124-126)Cat>Aat	p.H42N	KDM4C_ENST00000543771.1_Missense_Mutation_p.H42N|KDM4C_ENST00000536108.1_5'UTR|KDM4C_ENST00000442236.2_5'UTR|KDM4C_ENST00000401787.3_Missense_Mutation_p.H42N|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000535193.1_Missense_Mutation_p.H64N|KDM4C_ENST00000381306.3_Missense_Mutation_p.H42N	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	42	JmjN.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						TAAAGGAGCCCATCGTGCGGG	0.433000													28	90					3.65163e-15	4.05952e-15	0.706142	1	0
SLU7	10569	broad.mit.edu	37	5	159834989	159834989	+	Silent	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr5:159834989C>T	ENST00000297151.4	-	9	1293	c.906G>A	c.(904-906)aaG>aaA	p.K302K		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	302					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATCTGGATTCTTTCCTGCAT	0.323000													28	45					0	0	0.706142	0	0
PHF1	5252	broad.mit.edu	37	6	33380119	33380119	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr6:33380119C>A	ENST00000374516.3	+	2	350	c.79C>A	c.(79-81)Ccc>Acc	p.P27T	PHF1_ENST00000374512.3_Missense_Mutation_p.P27T|PHF1_ENST00000459809.1_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	27					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CACCTCTGGCCCCAGGCCTCG	0.617000													11	44					1.58986e-06	1.73063e-06	0.361761	1	0
CNST	163882	broad.mit.edu	37	1	246810816	246810816	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr1:246810816G>A	ENST00000366513.4	+	9	1582	c.1313G>A	c.(1312-1314)gGc>gAc	p.G438D	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.G438D	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	438					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						ATTTCACCAGGCTGTGACCGT	0.502000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	87	187					0	0	0.870114	0	0
SCAF4	57466	broad.mit.edu	37	21	33064715	33064715	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr21:33064715G>A	ENST00000286835.7	-	13	1943	c.1561C>T	c.(1561-1563)Cag>Tag	p.Q521*	SCAF4_ENST00000399804.1_Nonsense_Mutation_p.Q521*|SCAF4_ENST00000434667.3_Nonsense_Mutation_p.Q506*	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	521	RRM.					nucleus	nucleotide binding|RNA binding	p.Q521*(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ACATCCTGCTGAGTAGTTCTT	0.378000													15	18					0	0	0.479597	0	0
GPN2	54707	broad.mit.edu	37	1	27216282	27216282	+	Silent	SNP	G	G	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr1:27216282G>T	ENST00000374135.4	-	1	506	c.306C>A	c.(304-306)ctC>ctA	p.L102L		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	102							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						AGTGGCCGCGGAGGGGGTCGA	0.662000													29	58					4.2108e-06	4.49009e-06	0.740014	1	0
AGBL5	60509	broad.mit.edu	37	2	27276863	27276863	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr2:27276863G>A	ENST00000360131.4	+	4	646	c.487G>A	c.(487-489)Gac>Aac	p.D163N	AGBL5_ENST00000323064.8_Missense_Mutation_p.D163N|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	163					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCTACAGTGACTGCCAGGA	0.557000													29	137					0	0	0.760397	0	0
PRDM4	11108	broad.mit.edu	37	12	108145902	108145902	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr12:108145902G>C	ENST00000228437.5	-	5	875	c.416C>G	c.(415-417)tCt>tGt	p.S139C	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	139					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						ATTGGTGATAGATAATGCTGT	0.398000													15	97					0	0	0.457914	0	0
PHLDB1	23187	broad.mit.edu	37	11	118509706	118509706	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr11:118509706A>T	ENST00000361417.2	+	12	3044	c.2633A>T	c.(2632-2634)cAg>cTg	p.Q878L	PHLDB1_ENST00000527898.1_5'UTR|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.Q878L	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	878										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GCCTCCTTACAGCTGCTGCAA	0.612000													4	21					0	0	0.150653	0	0
CDH9	1007	broad.mit.edu	37	5	26886094	26886094	+	Silent	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr5:26886094G>A	ENST00000231021.4	-	10	1783	c.1611C>T	c.(1609-1611)ttC>ttT	p.F537F		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	537	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTACAATGGTGAAATTCGGAT	0.308000													24	64					0	0	0.681144	0	0
RGS22	26166	broad.mit.edu	37	8	101065078	101065078	+	Silent	SNP	G	G	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr8:101065078G>C	ENST00000360863.6	-	10	1835	c.1641C>G	c.(1639-1641)ctC>ctG	p.L547L	RGS22_ENST00000523437.1_Silent_p.L535L|RGS22_ENST00000523287.1_Silent_p.L366L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	547					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTAATGGCAAGAGGGTTGCCA	0.423000													37	93					0	0	0.796494	0	0
RYR2	6262	broad.mit.edu	37	1	237886498	237886498	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr1:237886498C>T	ENST00000366574.2	+	74	10942	c.10625C>T	c.(10624-10626)tCa>tTa	p.S3542L	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.S3526L|RYR2_ENST00000360064.6_Missense_Mutation_p.S3540L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3542					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATGATACCTCAGATCCAGAG	0.393000													19	79					0	0	0.557998	0	0
MYO7B	4648	broad.mit.edu	37	2	128350491	128350491	+	Silent	SNP	C	C	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr2:128350491C>A	ENST00000389524.4	+	17	2168	c.2115C>A	c.(2113-2115)ggC>ggA	p.G705G	MYO7B_ENST00000409816.2_Silent_p.G705G|MYO7B_ENST00000428314.1_Silent_p.G705G			Q6PIF6	MYO7B_HUMAN	myosin VIIB	705	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGAGGTTCGGCGTGTTGCTGC	0.667000													4	10					0.00909568	0.00927316	0.150653	1	0
ZNF320	162967	broad.mit.edu	37	19	53384992	53384992	+	Silent	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr19:53384992C>T	ENST00000595635.1	-	8	888	c.387G>A	c.(385-387)agG>agA	p.R129R	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Silent_p.R129R|ZNF320_ENST00000600930.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TTCCAGCATGCCTTTGATCAT	0.373000													40	126					0	0	0.819951	0	0
MCM7	4176	broad.mit.edu	37	7	99695255	99695255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr7:99695255G>A	ENST00000303887.5	-	9	1744	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Nonsense_Mutation_p.R191*	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	367	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TTCATGCCTCGAGGAGACTGG	0.517000													140	288					0	0	0.870114	0	0
BIRC6	57448	broad.mit.edu	37	2	32822980	32822980	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr2:32822980C>T	ENST00000421745.2	+	69	13909	c.13775C>T	c.(13774-13776)tCt>tTt	p.S4592F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4592	Ubiquitin-conjugating.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTGCCTCTGTCTTCATCCTCT	0.463000													7	15					0	0	0.248553	0	0
CTSC	1075	broad.mit.edu	37	11	88027636	88027636	+	Silent	SNP	G	G	A	rs148742372		TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr11:88027636G>A	ENST00000227266.5	-	7	1044	c.930C>T	c.(928-930)taC>taT	p.Y310Y		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	310					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATCTTGGGCGTACTTTCCTG	0.448000													21	31					0	0	0.608945	0	0
SNORD3B-2	780852	broad.mit.edu	37	17	18967395	18967395	+	RNA	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr17:18967395C>T	ENST00000364880.1	-	0	54																											tctacacgttcagagaaactt	0.512000													6	18					0	0	0.248553	0	0
U2AF2	11338	broad.mit.edu	37	19	56171880	56171880	+	Splice_Site	SNP	A	A	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr19:56171880A>C	ENST00000450554.2	+	4	1189		c.e4-1		U2AF2_ENST00000308924.4_Splice_Site	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2						mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	p.?(2)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CACCTCCCCCAGTCGTTCCCC	0.637000													5	9					0	0	0.217242	0	0
AGAP4	119016	broad.mit.edu	37	10	46322050	46322050	+	Silent	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr10:46322050C>T	ENST00000448048.2	-	7	1430	c.1305G>A	c.(1303-1305)ctG>ctA	p.L435L		NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	435					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)|lung(1)|ovary(1)	3						TCTGGCTGGTCAGCTGGGACT	0.592000													62	96					0	0	0.870114	0	0
SLC4A10	57282	broad.mit.edu	37	2	162762398	162762398	+	Splice_Site	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr2:162762398G>A	ENST00000375514.5	+	15	2227		c.e15+1		SLC4A10_ENST00000446997.1_Splice_Site|SLC4A10_ENST00000421911.1_Splice_Site|SLC4A10_ENST00000415876.2_Splice_Site|SLC4A10_ENST00000272716.5_Splice_Site	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10						bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CACAATACTCGTAAGTACCAT	0.398000													19	12					0	0	0.575678	0	0
CUL1	8454	broad.mit.edu	37	7	148484180	148484180	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr7:148484180G>A	ENST00000325222.4	+	13	1726	c.1447G>A	c.(1447-1449)Gat>Aat	p.D483N	CUL1_ENST00000602748.1_Missense_Mutation_p.D483N|CUL1_ENST00000409469.1_Missense_Mutation_p.D483N	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	483					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	p.D483N(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGCAAGTGACGATGCCGAAGC	0.448000													10	48					0	0	0.335167	0	0
MAP9	79884	broad.mit.edu	37	4	156276879	156276879	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr4:156276879C>A	ENST00000311277.4	-	9	1542	c.1279G>T	c.(1279-1281)Gct>Tct	p.A427S	MAP9_ENST00000515654.1_Missense_Mutation_p.A403S|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000609486.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	427					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TGATAAACAGCTGCCCTTATG	0.333000													9	45					4.68919e-08	5.1311e-08	0.361761	1	0
NBPF14	25832	broad.mit.edu	37	1	148009423	148009423	+	Silent	SNP	C	C	G			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr1:148009423C>G	ENST00000369219.1	-	16	1900	c.1884G>C	c.(1882-1884)ctG>ctC	p.L628L				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	628	NBPF 7.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					ATGAGTCAGTCAGTTCAAGAC	0.488000													25	449					0	0	0.706142	0	0
FAAH	2166	broad.mit.edu	37	1	46871313	46871313	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr1:46871313C>G	ENST00000243167.8	+	5	716	c.632C>G	c.(631-633)tCc>tGc	p.S211C	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	211					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	TGGAAGTCCTCCAAAAGCCCA	0.632000													22	136					0	0	0.639603	0	0
PNPLA7	375775	broad.mit.edu	37	9	140357880	140357880	+	Silent	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr9:140357880G>A	ENST00000406427.1	-	29	3666	c.3330C>T	c.(3328-3330)atC>atT	p.I1110I	PNPLA7_ENST00000277531.4_Silent_p.I1085I|PNPLA7_ENST00000371457.1_Silent_p.I691I|PNPLA7_ENST00000492278.1_5'UTR	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1085					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGAGGTTGTTGATGTAGCCCC	0.682000													3	9					0	0	0.115264	0	0
CPE	1363	broad.mit.edu	37	4	166385704	166385704	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr4:166385704T>A	ENST00000402744.4	+	2	750	c.470T>A	c.(469-471)cTg>cAg	p.L157Q		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	157					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGCCTTCCCTGAACCCAGAT	0.483000											OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	39					0	0	0.278610	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964331	94964331	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr14:94964331C>T	ENST00000341228.2	-	3	1199	c.404G>A	c.(403-405)gGg>gAg	p.G135E	SERPINA12_ENST00000556881.1_Missense_Mutation_p.G135E	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	135					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CAGCGTGTTCCCAATGCTCAG	0.468000													41	103					0	0	0.853193	0	0
NBPF14	25832	broad.mit.edu	37	1	148009494	148009494	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr1:148009494C>T	ENST00000369219.1	-	16	1829	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	605	NBPF 7.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GGCTCTTTCTCATCCAACAGC	0.483000													13	451					0	0	0.411799	0	0
KIF21A	55605	broad.mit.edu	37	12	39725533	39725533	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr12:39725533G>C	ENST00000395670.3	-	22	3531	c.3112C>G	c.(3112-3114)Cga>Gga	p.R1038G	KIF21A_ENST00000544797.2_Missense_Mutation_p.R1025G|KIF21A_ENST00000361418.5_Missense_Mutation_p.R1038G|KIF21A_ENST00000361961.3_Missense_Mutation_p.R1025G|KIF21A_ENST00000541463.2_Missense_Mutation_p.R1002G			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1038					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AGCAGGTATCGGGCTTCTGTA	0.378000													22	69					0	0	0.654019	0	0
GTF2F1	2962	broad.mit.edu	37	19	6389547	6389547	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr19:6389547C>G	ENST00000394456.5	-	4	698	c.234G>C	c.(232-234)gaG>gaC	p.E78D	CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_Missense_Mutation_p.E50D	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	78					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						TCCTCCGAGCCTCCTCCCGAA	0.607000													31	174					0	0	0.760397	0	0
TP53	7157	broad.mit.edu	37	17	7578448	7578448	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr17:7578448G>A	ENST00000420246.2	-	5	614	c.482C>T	c.(481-483)gCc>gTc	p.A161V	TP53_ENST00000359597.4_Missense_Mutation_p.A161V|TP53_ENST00000445888.2_Missense_Mutation_p.A161V|TP53_ENST00000413465.2_Missense_Mutation_p.A161V|TP53_ENST00000269305.4_Missense_Mutation_p.A161V|TP53_ENST00000455263.2_Missense_Mutation_p.A161V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	161	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (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.A161D(11)|p.0?(8)|p.A161V(8)|p.R156_I162delRVRAMAI(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.A68D(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A29D(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S149fs*72(1)|p.V157_I162delVRAMAI(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.A161T(1)|p.A161fs*8(1)|p.I162fs*8(1)|p.A161F(1)|p.A161G(1)|p.R158fs*8(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)		CTTGTAGATGGCCATGGCGCG	0.627000		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)			19	32					0	0	0.557998	0	0
SYNE2	23224	broad.mit.edu	37	14	64556341	64556341	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr14:64556341C>T	ENST00000357395.3	+	60	12019	c.875C>T	c.(874-876)tCa>tTa	p.S292L	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.S292L|SYNE2_ENST00000344113.4_Missense_Mutation_p.S3907L|SYNE2_ENST00000554584.1_Missense_Mutation_p.S3940L|SYNE2_ENST00000358025.3_Missense_Mutation_p.S3907L|SYNE2_ENST00000555002.1_Missense_Mutation_p.S541L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3907					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAAAGAGTTTCAAAAATCAAA	0.274000													12	21					0	0	0.387290	0	0
MAP2	4133	broad.mit.edu	37	2	210560521	210560521	+	Silent	SNP	T	T	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr2:210560521T>C	ENST00000360351.4	+	7	4133	c.3627T>C	c.(3625-3627)gaT>gaC	p.D1209D	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Silent_p.D1205D|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1209					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGACCCCAGATATATCCATCA	0.468000													13	23					0	0	0.435327	0	0
FAM53A	152877	broad.mit.edu	37	4	1643173	1643173	+	Silent	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr4:1643173G>A	ENST00000308132.6	-	5	1236	c.1044C>T	c.(1042-1044)gtC>gtT	p.V348V	FAM53A_ENST00000489363.1_3'UTR|FAM53A_ENST00000461064.1_Silent_p.V348V|FAM53A_ENST00000472884.2_Silent_p.V348V	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	348						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			GGTTGGGGTGGACAGGGCTGG	0.687000													23	51					0	0	0.624587	0	0
FAM21A	387680	broad.mit.edu	37	10	51892705	51892705	+	Nonstop_Mutation	SNP	G	G	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr10:51892705G>C	ENST00000351071.6	+	30	4081	c.3963G>C	c.(3961-3963)taG>taC	p.*1321Y	FAM21A_ENST00000282633.5_Nonstop_Mutation_p.*1342Y|FAM21A_ENST00000314664.7_Nonstop_Mutation_p.*1280Y|FAM21A_ENST00000399339.2_Nonstop_Mutation_p.*1254Y			Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	0					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						GAGGCCAGTAGAGCACACAGG	0.443000													7	47					0	0	0.361761	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881177	142881177	+	Silent	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr7:142881177C>T	ENST00000446620.1	+	1	666	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	222					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					CTCCTCTGATCATGTTCATCC	0.502000													23	75					0	0	0.639603	0	0
PENK	5179	broad.mit.edu	37	8	57354330	57354330	+	Missense_Mutation	SNP	C	C	T	rs143937196		TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr8:57354330C>T	ENST00000314922.3	-	2	381	c.305G>A	c.(304-306)gGc>gAc	p.G102D	PENK_ENST00000451791.2_Missense_Mutation_p.G102D|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	102					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TTTCATGAAGCCCCCATACCT	0.498000													25	98					0	0	0.654019	0	0
FAAH	2166	broad.mit.edu	37	1	46871358	46871358	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr1:46871358G>T	ENST00000243167.8	+	5	761	c.677G>T	c.(676-678)gGg>gTg	p.G226V	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	226					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GCCCTCATCGGGTCTGGAGGC	0.632000													17	113					2.23348e-06	2.41864e-06	0.500413	1	0
SLC12A1	6557	broad.mit.edu	37	15	48551508	48551508	+	Splice_Site	SNP	G	G	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr15:48551508G>T	ENST00000396577.3	+	17	2369	c.2154G>T	c.(2152-2154)gtG>gtT	p.V718V	SLC12A1_ENST00000380993.3_Splice_Site_p.V718V|SLC12A1_ENST00000558405.1_Splice_Site_p.V718V	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	718					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AAGTCTTTGTGGTAAGAGCCA	0.478000													4	75					0.150653	0.152847	0.150653	1	0
TMEM67	91147	broad.mit.edu	37	8	94822085	94822085	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr8:94822085G>T	ENST00000453321.3	+	26	2792	c.2734G>T	c.(2734-2736)Gaa>Taa	p.E912*	TMEM67_ENST00000409623.3_Nonsense_Mutation_p.E831*	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	912					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			GGAATTCATGGAACCAATGGA	0.299000													9	34					1.12685e-05	1.18348e-05	0.307466	1	0
TMEM132B	114795	broad.mit.edu	37	12	126138519	126138519	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr12:126138519C>T	ENST00000299308.3	+	9	2508	c.2500C>T	c.(2500-2502)Cgt>Tgt	p.R834C	TMEM132B_ENST00000535886.1_Missense_Mutation_p.R346C	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	834						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ATGGTTCCACCGTGGCACACC	0.483000													10	45					0	0	0.387290	0	0
KLHL11	55175	broad.mit.edu	37	17	40021286	40021286	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr17:40021286G>A	ENST00000319121.3	-	1	398	c.338C>T	c.(337-339)tCg>tTg	p.S113L		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	113	BTB.					extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				AGCCAGTACCGAGCGGTGGGC	0.692000													7	22					0	0	0.248553	0	0
ACTR1A	10121	broad.mit.edu	37	10	104243978	104243978	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr10:104243978C>T	ENST00000369905.4	-	6	659	c.596G>A	c.(595-597)cGt>cAt	p.R199H	ACTR1A_ENST00000545684.1_Missense_Mutation_p.R125H|ACTR1A_ENST00000487599.1_Missense_Mutation_p.R199H|ACTR1A_ENST00000446605.2_Missense_Mutation_p.R152H	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	199					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		GCCCTCCTTACGCAGGTAGAG	0.582000													27	44					0	0	0.706142	0	0
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr21:11058322C>T	ENST00000470054.1	-	0	325									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383000													6	178					0	0	0.248553	0	0
C15orf52	388115	broad.mit.edu	37	15	40630951	40630951	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr15:40630951C>T	ENST00000559313.1	-	4	532	c.517G>A	c.(517-519)Gag>Aag	p.E173K		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	173										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CTGCTCACCTCTGCTTTGTTC	0.602000													19	28					0	0	0.608945	0	0
TCF7L2	6934	broad.mit.edu	37	10	114925398	114925398	+	Silent	SNP	G	G	A	rs61724286		TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr10:114925398G>A	ENST00000545257.1	+	15	2034	c.1527G>A	c.(1525-1527)tcG>tcA	p.S509S	TCF7L2_ENST00000536810.1_Silent_p.S492S|TCF7L2_ENST00000369389.1_3'UTR|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000369397.4_Silent_p.S486S|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000543371.1_Silent_p.S492S|TCF7L2_ENST00000542695.1_Silent_p.S225S|TCF7L2_ENST00000355995.4_Silent_p.S509S|TCF7L2_ENST00000355717.4_3'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	509					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TACTAGATTCGCCTCCCCCCT	0.587000			T	VTI1A	colorectal								9	89					0	0	0.335167	0	0
PSMD2	5708	broad.mit.edu	37	3	184025473	184025473	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr3:184025473C>G	ENST00000310118.4	+	18	2833	c.2275C>G	c.(2275-2277)Ctc>Gtc	p.L759V	PSMD2_ENST00000435761.1_Missense_Mutation_p.L600V|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.L629V	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	759					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	CCCAAACAACCTCTTCATGGT	0.498000													6	34					0	0	0.248553	0	0
COL2A1	1280	broad.mit.edu	37	12	48372111	48372111	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr12:48372111C>T	ENST00000380518.3	-	43	3130	c.2966G>A	c.(2965-2967)cGt>cAt	p.R989H	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.R920H	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	989	Triple-helical region.		R -> C (in SEDC).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCTCTCACCACGTTGCCCAGG	0.637000													9	30					0	0	0.361761	0	0
TSC2	7249	broad.mit.edu	37	16	2127670	2127670	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr16:2127670C>G	ENST00000219476.3	+	26	3539	c.2909C>G	c.(2908-2910)tCt>tGt	p.S970C	TSC2_ENST00000382538.6_Intron|TSC2_ENST00000353929.4_Intron|TSC2_ENST00000568454.1_Intron|TSC2_ENST00000401874.2_Intron|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000568366.1_3'UTR|TSC2_ENST00000350773.4_Missense_Mutation_p.S970C	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	970					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AAGGAGAGCTCTGCAGCCGAG	0.607000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				79	56					0	0	0.870114	0	0
ZNF493	284443	broad.mit.edu	37	19	21606925	21606925	+	Silent	SNP	C	C	G			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr19:21606925C>G	ENST00000392288.2	+	4	1573	c.1464C>G	c.(1462-1464)ccC>ccG	p.P488P	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.P360P	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AAGAGAAACCCTACAAATGTG	0.333000													12	53					0	0	0.411799	0	0
ADCY8	114	broad.mit.edu	37	8	131812674	131812674	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr8:131812674C>G	ENST00000286355.5	-	15	5150	c.3058G>C	c.(3058-3060)Gag>Cag	p.E1020Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.E889Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1020					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGATTTACCTCATCGAAGTCA	0.403000										HNSCC(32;0.087)			39	105					0	0	0.812448	0	0
KLHDC8B	200942	broad.mit.edu	37	3	49212280	49212280	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr3:49212280G>A	ENST00000332780.2	+	4	856	c.647G>A	c.(646-648)gGc>gAc	p.G216D	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	216						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCTTTGCTGGCTGCGCCATG	0.622000													12	55					0	0	0.387290	0	0
NKAP	79576	broad.mit.edu	37	X	119059251	119059251	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chrX:119059251C>G	ENST00000371410.3	-	9	1346	c.1180G>C	c.(1180-1182)Gag>Cag	p.E394Q	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	394	Necessary for interaction with HDAC3 and transcriptional repression.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						ATCTTGTTCTCTCTCTTTCGT	0.423000													38	43					0	0	0.840704	0	0
SLC43A3	29015	broad.mit.edu	37	11	57185238	57185238	+	Silent	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr11:57185238G>A	ENST00000395123.2	-	8	958	c.654C>T	c.(652-654)ccC>ccT	p.P218P	SLC43A3_ENST00000533524.1_Silent_p.P231P|SLC43A3_ENST00000529554.1_Silent_p.P218P|SLC43A3_ENST00000352187.1_Silent_p.P218P|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000395124.1_Silent_p.P218P	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	218					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TGTAGTTGGGGGGCAGTGGGT	0.572000													9	39					0	0	0.361761	0	0
CACUL1	143384	broad.mit.edu	37	10	120445671	120445671	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr10:120445671G>A	ENST00000369151.3	-	9	1562	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L	CACUL1_ENST00000544392.1_5'UTR	NM_153810.4	NP_722517.3			CDK2-associated, cullin domain 1																		TGCACATGCTGACGAGCTATC	0.408000													18	39					0	0	0.539581	0	0
VAC14	55697	broad.mit.edu	37	16	70732546	70732546	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr16:70732546C>G	ENST00000261776.5	-	15	2090	c.1830G>C	c.(1828-1830)aaG>aaC	p.K610N	VAC14_ENST00000536184.2_Missense_Mutation_p.K42N	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	610					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CTACCAGGGTCTTCAGGTCCT	0.642000													19	39					0	0	0.539581	0	0
CNTN6	27255	broad.mit.edu	37	3	1337325	1337325	+	Silent	SNP	C	C	T	rs114806249		TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr3:1337325C>T	ENST00000446702.2	+	6	1122	c.495C>T	c.(493-495)taC>taT	p.Y165Y	CNTN6_ENST00000539053.1_Silent_p.Y93Y|CNTN6_ENST00000350110.2_Silent_p.Y165Y			Q9UQ52	CNTN6_HUMAN	contactin 6	165	Ig-like C2-type 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ACCCCTTATACGTCCAAGAGG	0.373000													11	41					0	0	0.387290	0	0
COL6A3	1293	broad.mit.edu	37	2	238285671	238285671	+	Silent	SNP	A	A	G			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr2:238285671A>G	ENST00000295550.4	-	7	3266	c.2814T>C	c.(2812-2814)gaT>gaC	p.D938D	COL6A3_ENST00000392003.2_Silent_p.D531D|COL6A3_ENST00000347401.3_Silent_p.D737D|COL6A3_ENST00000353578.4_Silent_p.D732D|COL6A3_ENST00000346358.4_Silent_p.D738D|COL6A3_ENST00000472056.1_Silent_p.D331D|COL6A3_ENST00000392004.3_Silent_p.D732D|COL6A3_ENST00000409809.1_Silent_p.D732D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	938	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAAGCACTCCATCCTCGATCC	0.552000													23	49					0	0	0.608945	0	0
RUSC2	9853	broad.mit.edu	37	9	35547125	35547125	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr9:35547125G>A	ENST00000455600.1	+	2	1176	c.607G>A	c.(607-609)Gat>Aat	p.D203N	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	203						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TATGGAGCTGGATGAGTGTGG	0.587000													23	29					0	0	0.667858	0	0
CES1P1	51716	broad.mit.edu	37	16	55794587	55794587	+	RNA	SNP	G	G	T	rs151262919	by1000genomes	TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr16:55794587G>T	ENST00000571348.1	+	0	77					NR_003276.2																						GGCCACTCTCGCTGCTTCCGC	0.597000													3	27					3.59834e-05	3.76026e-05	0.217242	1	0
MARS2	92935	broad.mit.edu	37	2	198570809	198570809	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr2:198570809G>A	ENST00000282276.6	+	1	723	c.680G>A	c.(679-681)cGg>cAg	p.R227Q	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	227					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CGGTGGCTGCGGGGCAACCCT	0.582000													23	26					0	0	0.624587	0	0
CPA4	51200	broad.mit.edu	37	7	129962394	129962394	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr7:129962394G>A	ENST00000222482.4	+	11	1172	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	CPA4_ENST00000445470.2_Missense_Mutation_p.E349K|CPA4_ENST00000493259.1_Missense_Mutation_p.E278K	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	382					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					ATTCACATTTGAGTTGAGAGA	0.527000													18	81					0	0	0.520397	0	0
MRPS22	56945	broad.mit.edu	37	3	139062918	139062918	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr3:139062918C>T	ENST00000495075.1	+	3	482	c.50C>T	c.(49-51)tCt>tTt	p.S17F	MRPS22_ENST00000465056.1_Missense_Mutation_p.S17F|MRPS22_ENST00000310776.4_Missense_Mutation_p.S17F			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	17						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						TTGAGGAGTTCTCCGGGCGTG	0.607000													6	40					0	0	0.248553	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													4	86					0	0	0.217242	0	0
CBX4	8535	broad.mit.edu	37	17	77807775	77807775	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr17:77807775C>T	ENST00000269397.4	-	5	1843	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	556	Interaction with RNF2.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GTCACGTACTCCTTGAAAGTA	0.637000													11	38					0	0	0.361761	0	0
ITPR1	3708	broad.mit.edu	37	3	4842270	4842270	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr3:4842270C>G	ENST00000302640.8	+	53	7398	c.7048C>G	c.(7048-7050)Ctg>Gtg	p.L2350V	ITPR1_ENST00000423119.2_Missense_Mutation_p.L2317V|ITPR1_ENST00000357086.4_Missense_Mutation_p.L2317V|ITPR1_ENST00000443694.2_Missense_Mutation_p.L2350V|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.L2302V|ITPR1_ENST00000354582.6_Missense_Mutation_p.L2350V	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2365					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GTTGTTTCTTCTGGGCGCTTT	0.478000													14	73					0	0	0.435327	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													3	56					0	0	0.115264	0	0
PIK3CA	5290	broad.mit.edu	37	3	178917576	178917576	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr3:178917576G>A	ENST00000263967.3	+	3	608	c.451G>A	c.(451-453)Gtg>Atg	p.V151M		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	151					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TAAAGAAGCTGTGGATCTTAG	0.383000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	100					0	0	0.361761	0	0
A2M	2	broad.mit.edu	37	12	9227263	9227263	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr12:9227263G>C	ENST00000318602.7	-	29	3956	c.3649C>G	c.(3649-3651)Ctc>Gtc	p.L1217V		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1217					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TGGGCCGTGAGATAAGCGAGG	0.592000													12	14					0	0	0.387290	0	0
GPANK1	7918	broad.mit.edu	37	6	31631703	31631703	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr6:31631703C>A	ENST00000375906.1	-	3	1237	c.553G>T	c.(553-555)Gaa>Taa	p.E185*	GPANK1_ENST00000375896.4_Nonsense_Mutation_p.E185*|GPANK1_ENST00000375900.4_Nonsense_Mutation_p.E185*|GPANK1_ENST00000375895.2_Nonsense_Mutation_p.E185*|GPANK1_ENST00000375893.2_Nonsense_Mutation_p.E185*	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	185						intracellular	nucleic acid binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						CCAGCTTCTTCAGCGAGCTGA	0.637000													24	61					4.26978e-12	4.69675e-12	0.654019	1	0
BTNL2	56244	broad.mit.edu	37	6	32374847	32374847	+	Silent	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr6:32374847G>A	ENST00000454136.3	-	1	58	c.54C>T	c.(52-54)ttC>ttT	p.F18F	BTNL2_ENST00000429232.2_Silent_p.F18F|BTNL2_ENST00000374993.1_Silent_p.F18F|BTNL2_ENST00000374995.3_Silent_p.F18F|BTNL2_ENST00000414363.1_Silent_p.F18F|BTNL2_ENST00000544175.1_5'UTR|BTNL2_ENST00000540315.1_Silent_p.F18F			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	18						integral to membrane		p.F18F(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TCAGCAGGATGAATAGGAAGG	0.493000													22	95					0	0	0.639603	0	0
ADCY3	109	broad.mit.edu	37	2	25042933	25042933	+	Silent	SNP	C	C	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr2:25042933C>A	ENST00000260600.5	-	21	4154	c.3303G>T	c.(3301-3303)gtG>gtT	p.V1101V	CENPO_ENST00000380834.2_3'UTR|CENPO_ENST00000473706.1_3'UTR|ADCY3_ENST00000405392.1_Silent_p.V688V	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	1101					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GGCCTCGCCTCACAAAGCGGA	0.597000													4	30					2.56e-06	2.75794e-06	0.150653	1	0
TFAP2C	7022	broad.mit.edu	37	20	55209242	55209242	+	Silent	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr20:55209242G>A	ENST00000201031.2	+	5	1083	c.840G>A	c.(838-840)gaG>gaA	p.E280E	TFAP2C_ENST00000544508.1_Silent_p.E111E	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	280					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CCTTGCGGGAGAAGTTGGACA	0.468000													32	38					0	0	0.760397	0	0
MTX2	10651	broad.mit.edu	37	2	177202341	177202341	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr2:177202341G>C	ENST00000392529.2	+	11	1116	c.711G>C	c.(709-711)agG>agC	p.R237S	MTX2_ENST00000249442.6_Missense_Mutation_p.R247S|MTX2_ENST00000443241.1_Missense_Mutation_p.R191S			O75431	MTX2_HUMAN	metaxin 2	247					protein targeting to mitochondrion	mitochondrial outer membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			CTTTCTGTAGGAGAATTGAAC	0.368000													49	115					0	0	0.870114	0	0
B3GNT2	10678	broad.mit.edu	37	2	62449836	62449836	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr2:62449836A>G	ENST00000301998.4	+	2	733	c.481A>G	c.(481-483)Atc>Gtc	p.I161V	B3GNT2_ENST00000405767.1_Missense_Mutation_p.I161V	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	161						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			AAGGCAAGCAATCCGGGAATC	0.532000													30	53					0	0	0.717897	0	0
LUZP1	7798	broad.mit.edu	37	1	23418815	23418815	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr1:23418815C>T	ENST00000302291.4	-	4	2741	c.1940G>A	c.(1939-1941)cGa>cAa	p.R647Q	LUZP1_ENST00000314174.5_Missense_Mutation_p.R647Q|LUZP1_ENST00000374623.3_Missense_Mutation_p.R647Q|LUZP1_ENST00000418342.1_Missense_Mutation_p.R647Q			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	647						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTTGATGACTCGACACCTCAA	0.458000													22	136					0	0	0.608945	0	0
PSMB8	5696	broad.mit.edu	37	6	32809404	32809404	+	Missense_Mutation	SNP	G	G	A	rs146956608		TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr6:32809404G>A	ENST00000374881.2	-	5	923	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	PSMB8_ENST00000395339.3_Missense_Mutation_p.R192W|PSMB8_ENST00000374882.3_Missense_Mutation_p.R216W	NM_004159.4	NP_004150.1	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	216					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	p.R212W(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						AGATTAGGCCGATAGCCACTG	0.512000													35	117					0	0	0.769981	0	0
MAP3K13	9175	broad.mit.edu	37	3	185165641	185165641	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr3:185165641G>A	ENST00000265026.3	+	5	1250	c.916G>A	c.(916-918)Gac>Aac	p.D306N	MAP3K13_ENST00000446828.1_Missense_Mutation_p.D99N|MAP3K13_ENST00000424227.1_Missense_Mutation_p.D306N|MAP3K13_ENST00000535426.1_Missense_Mutation_p.D162N|MAP3K13_ENST00000443863.1_Missense_Mutation_p.D162N	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	306	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGAACTCAGTGACAAAAGTAC	0.393000													7	50					0	0	0.278610	0	0
ADCY10	55811	broad.mit.edu	37	1	167806521	167806521	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr1:167806521G>T	ENST00000367848.1	-	22	3264	c.2767C>A	c.(2767-2769)Cct>Act	p.P923T	ADCY10_ENST00000545172.1_Missense_Mutation_p.P862T|ADCY10_ENST00000367851.4_Missense_Mutation_p.P1015T			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1015					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GATGTCTCAGGAATCTCTGAG	0.353000													17	40					0.006122	0.00630295	0.539581	1	0
RYR2	6262	broad.mit.edu	37	1	237813234	237813234	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr1:237813234G>A	ENST00000366574.2	+	50	7887	c.7570G>A	c.(7570-7572)Gtc>Atc	p.V2524I	RYR2_ENST00000542537.1_Missense_Mutation_p.V2508I|RYR2_ENST00000360064.6_Missense_Mutation_p.V2522I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2524	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGCACAGCCGTCTTGCCATT	0.463000													31	82					0	0	0.769981	0	0
KIAA0895L	653319	broad.mit.edu	37	16	67214350	67214350	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr16:67214350G>A	ENST00000290881.7	-	3	1090	c.164C>T	c.(163-165)cCa>cTa	p.P55L	KIAA0895L_ENST00000561621.1_Missense_Mutation_p.P55L|KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.P55L			Q68EN5	K895L_HUMAN	KIAA0895-like	55	Pro-rich.									breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						CTGCAGCGCTGGGGGGACTGC	0.642000													12	12					0	0	0.411799	0	0
KIAA1755	85449	broad.mit.edu	37	20	36868990	36868990	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr20:36868990C>T	ENST00000279024.4	-	3	1814	c.1543G>A	c.(1543-1545)Ggg>Agg	p.G515R		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	515										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TTACCTTTCCCCAAAGATTTG	0.498000													12	98					0	0	0.411799	0	0
SCN1A	6323	broad.mit.edu	37	2	166893008	166893008	+	Silent	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr2:166893008G>A	ENST00000423058.2	-	16	2996	c.2979C>T	c.(2977-2979)agC>agT	p.S993S	AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Silent_p.S993S|SCN1A_ENST00000375405.3_Silent_p.S982S|SCN1A_ENST00000409050.1_Silent_p.S965S|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	993						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CACTAAATGAGCTCAGAAGCA	0.373000													7	12					0	0	0.278610	0	0
THYN1	29087	broad.mit.edu	37	11	134121050	134121050	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr11:134121050G>A	ENST00000341541.3	-	2	657	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	THYN1_ENST00000352327.5_Missense_Mutation_p.R66C|THYN1_ENST00000392595.2_Missense_Mutation_p.R66C|THYN1_ENST00000392594.3_Missense_Mutation_p.R66C	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1	66						nucleus				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		TTCTCTAGGCGGCTCTCTGGC	0.473000													35	152					0	0	0.760397	0	0
BMP1	649	broad.mit.edu	37	8	22065000	22065000	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr8:22065000G>A	ENST00000306385.5	+	18	3216	c.2546G>A	c.(2545-2547)cGa>cAa	p.R849Q	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	849	CUB 4.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCGGTCCAGCGAAAGGGCTTC	0.627000													17	34					0	0	0.520397	0	0
LDLR	3949	broad.mit.edu	37	19	11217345	11217345	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr19:11217345G>T	ENST00000558518.1	+	5	986	c.799G>T	c.(799-801)Gaa>Taa	p.E267*	LDLR_ENST00000455727.2_Intron|LDLR_ENST00000557933.1_Nonsense_Mutation_p.E267*|LDLR_ENST00000558013.1_Nonsense_Mutation_p.E267*|LDLR_ENST00000545707.1_Nonsense_Mutation_p.E140*|LDLR_ENST00000535915.1_Nonsense_Mutation_p.E226*	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	267	LDL-receptor class A 6.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CATGAGCGATGAAGTTGGCTG	0.552000													4	57					0.00909568	0.00927316	0.150653	1	0
TP53	7157	broad.mit.edu	37	17	7578449	7578449	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr17:7578449C>A	ENST00000420246.2	-	5	613	c.481G>T	c.(481-483)Gcc>Tcc	p.A161S	TP53_ENST00000359597.4_Missense_Mutation_p.A161S|TP53_ENST00000445888.2_Missense_Mutation_p.A161S|TP53_ENST00000413465.2_Missense_Mutation_p.A161S|TP53_ENST00000269305.4_Missense_Mutation_p.A161S|TP53_ENST00000455263.2_Missense_Mutation_p.A161S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	161	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (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.A161T(54)|p.0?(8)|p.A68T(3)|p.A29T(3)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.A161fs*20(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.S149fs*72(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(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)		TTGTAGATGGCCATGGCGCGG	0.632000		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)			19	33					1.56452e-12	1.73008e-12	0.557998	1	0
NBPF12	149013	broad.mit.edu	37	1	146399599	146399599	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr1:146399599G>T	ENST00000442909.2	+	8	1374	c.538G>T	c.(538-540)Gag>Tag	p.E180*	NBPF12_ENST00000446760.2_Nonsense_Mutation_p.E180*|NBPF12_ENST00000309471.8_Nonsense_Mutation_p.E105*					neuroblastoma breakpoint family, member 12											ovary(2)	2						TGAGGAGGATGAGAAAGTACT	0.408000													20	350					1.32181e-22	1.47732e-22	0.717897	1	0
TANK	10010	broad.mit.edu	37	2	162088006	162088006	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr2:162088006G>A	ENST00000392749.2	+	7	1284	c.1045G>A	c.(1045-1047)Gat>Aat	p.D349N	AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000405852.1_Missense_Mutation_p.D349N|TANK_ENST00000406287.1_Intron|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000259075.2_Missense_Mutation_p.D349N|TANK_ENST00000402568.1_Intron	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	349						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						GGACCCATCTGATGCACCTTT	0.433000													25	33					0	0	0.693898	0	0
NSD1	64324	broad.mit.edu	37	5	176639086	176639086	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr5:176639086C>T	ENST00000439151.2	+	5	3731	c.3686C>T	c.(3685-3687)tCa>tTa	p.S1229L	NSD1_ENST00000354179.4_Missense_Mutation_p.S960L|NSD1_ENST00000361032.4_Missense_Mutation_p.S1126L|NSD1_ENST00000347982.4_Missense_Mutation_p.S960L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1229					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGCTTAGATTCAGCTGGGCCA	0.498000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			17	24					0	0	0.539581	0	0
USP7	7874	broad.mit.edu	37	16	8990890	8990890	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr16:8990890C>T	ENST00000344836.4	-	26	2983	c.2785G>A	c.(2785-2787)Gtg>Atg	p.V929M	USP7_ENST00000535863.1_Missense_Mutation_p.V830M|USP7_ENST00000381886.4_Missense_Mutation_p.V913M	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	929					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CCAAGCTCCACGGCCTTTTTA	0.438000													62	488					0	0	0.870114	0	0
UBE2M	9040	broad.mit.edu	37	19	59067557	59067557	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr19:59067557C>T	ENST00000253023.3	-	6	1029	c.451G>A	c.(451-453)Gag>Aag	p.E151K		NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	151					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TGCAGGACCTCTGCGGCCTCC	0.617000													8	64					0	0	0.278610	0	0
HECTD4	283450	broad.mit.edu	37	12	112688036	112688036	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr12:112688036G>C	ENST00000550722.1	-	25	3819	c.3424C>G	c.(3424-3426)Ctg>Gtg	p.L1142V	HECTD4_ENST00000430131.2_Missense_Mutation_p.L866V|HECTD4_ENST00000377560.5_Missense_Mutation_p.L1116V	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		ATCCGAGGCAGATCAAAGTAG	0.488000													17	47					0	0	0.520397	0	0
LOC644669	644669	broad.mit.edu	37	18	15323276	15323276	+	RNA	SNP	A	A	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr18:15323276A>T	ENST00000455308.2	-	0	572					NR_027417.1																						ATCAACTGCAATTGCATTTGC	0.308000													3	12					0	0	0.307466	0	0
OVCH1	341350	broad.mit.edu	37	12	29598255	29598255	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr12:29598255A>T	ENST00000318184.5	-	23	2836	c.2837T>A	c.(2836-2838)gTa>gAa	p.V946E	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	946	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGCACCTCGTACAAGGGCATG	0.373000													13	41					0	0	0.457914	0	0
TMEM151A	256472	broad.mit.edu	37	11	66062504	66062504	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr11:66062504G>T	ENST00000327259.4	+	2	931	c.787G>T	c.(787-789)Gac>Tac	p.D263Y		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	263						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						GCACCTGAAGGACGTAGACTT	0.701000													8	12					5.18039e-06	5.49595e-06	0.278610	1	0
FLJ16171	441116	broad.mit.edu	37	5	174350102	174350102	+	RNA	DEL	T	T	-			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr5:174350102delT	ENST00000377300.3	-	0	1281					NR_046113.1																						CATGGCGGCCTTTTCCGGCCC	0.572													2	4	---	---	---	---					
MUC17	140453	broad.mit.edu	37	7	100683171	100683172	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr7:100683171_100683172insT	ENST00000306151.4	+	3	8538_8539	c.8474_8475insT	c.(8473-8478)tctgagfs	p.E2826fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2826	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGGCCAGTTCTGAGGCTGGCA	0.495													135	370	---	---	---	---					
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396278	+	RNA	INS	-	-	T	rs148140777	by1000genomes	TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr10:118396277_118396278insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													3	5	---	---	---	---					
OR5I1	10798	broad.mit.edu	37	11	55703172	55703172	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr11:55703172delC	ENST00000301532.3	-	1	704	c.705delG	c.(703-705)gggfs	p.G235fs		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCTTCTTCCTCCCACTGAAAG	0.443													11	9	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	49039340	49039341	+	Splice_Site	INS	-	-	CC			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr13:49039340_49039341insCC	ENST00000267163.4	+	23	2463_2464		c.e23-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(12)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTTGCTCTAGCCCCCTACCTT	0.406		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			59	130	---	---	---	---					
NOP9	161424	broad.mit.edu	37	14	24769636	24769639	+	Frame_Shift_Del	DEL	GAAG	GAAG	-			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr14:24769636_24769639delGAAG	ENST00000267425.3	+	2	363_366	c.270_273delGAAG	c.(268-273)atgaagfs	p.MK90fs	NOP9_ENST00000396802.3_Frame_Shift_Del_p.MK90fs	NM_174913.1	NP_777573.1			NOP9 nucleolar protein																		ACAATATAATGAAGGAAGTAGAGA	0.471													13	24	---	---	---	---					
TSEN54	283989	broad.mit.edu	37	17	73513126	73513126	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr17:73513126delG	ENST00000333213.6	+	3	294	c.258delG	c.(256-258)gagfs	p.E86fs	TSEN54_ENST00000580013.1_3'UTR	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	86					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCCAGAAGAGGGCTTCGTGG	0.716													2	4	---	---	---	---					
ACTL9	284382	broad.mit.edu	37	19	8808124	8808125	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr19:8808124_8808125insC	ENST00000324436.3	-	1	1047_1048	c.927_928insG	c.(925-930)gggctgfs	p.L310fs		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	310						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						ACGGGTGACAGCCCCGGGACCT	0.644													24	62	---	---	---	---					
UPF1	5976	broad.mit.edu	37	19	18976120	18976120	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr19:18976120delC	ENST00000262803.5	+	21	3152	c.2880delC	c.(2878-2880)ttcfs	p.F960fs	UPF1_ENST00000599848.1_Frame_Shift_Del_p.F971fs	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	971					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCATGTACTTCCAGACCCATG	0.607													12	17	---	---	---	---					
ZNF805	390980	broad.mit.edu	37	19	57764652	57764652	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A6TD-01A-51D-A339-08	TCGA-FD-A6TD-10A-21D-A339-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8ecdd1c3-ea03-4c62-bac8-e5d184ecc077	68c0ace2-677a-49e2-a90d-5ea536c1686a	g.chr19:57764652delC	ENST00000535550.1	+	4	562	c.66delC	c.(64-66)agcfs	p.S22fs	ZNF805_ENST00000414468.2_Frame_Shift_Del_p.S155fs|ZNF805_ENST00000354309.4_Frame_Shift_Del_p.S22fs	NM_001145078.1	NP_001138550.1	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	155	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						GAAAAATGAGCCCCAAACATG	0.473													2	4	---	---	---	---