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
DYSF	8291	broad.mit.edu	37	2	71753455	71753455	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:71753455C>T	ENST00000258104.3	+	12	1436	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	DYSF_ENST00000394120.2_Missense_Mutation_p.R388W|DYSF_ENST00000409762.1_Missense_Mutation_p.R418W|DYSF_ENST00000410020.3_Missense_Mutation_p.R419W|DYSF_ENST00000413539.2_Missense_Mutation_p.R418W|DYSF_ENST00000409366.1_Missense_Mutation_p.R388W|DYSF_ENST00000409582.3_Missense_Mutation_p.R418W|DYSF_ENST00000410041.1_Missense_Mutation_p.R419W|DYSF_ENST00000409651.1_Missense_Mutation_p.R419W|DYSF_ENST00000429174.2_Missense_Mutation_p.R387W|DYSF_ENST00000409744.1_Missense_Mutation_p.R388W	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	387	C2 3.		FRAED -> Y (in MMD1).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAAGGTCTTCCGGGCCGAGGA	0.672000													83	246					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5244109	5244109	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:5244109C>T	ENST00000372412.4	-	11	1609	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	PTPRS_ENST00000353284.2_Missense_Mutation_p.R445H|PTPRS_ENST00000357368.4_Missense_Mutation_p.R458H|PTPRS_ENST00000348075.2_Missense_Mutation_p.R445H|PTPRS_ENST00000592099.1_Missense_Mutation_p.R445H|PTPRS_ENST00000262963.6_Missense_Mutation_p.R454H|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.R445H|PTPRS_ENST00000587303.1_Missense_Mutation_p.R458H			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	458	Fibronectin type-III 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCGGTAGCCGCGGATCAGGCC	0.682000													34	163					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28785936	28785936	+	Silent	SNP	C	C	T	rs147698393		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:28785936C>T	ENST00000422425.2	+	18	1253	c.1209C>T	c.(1207-1209)aaC>aaT	p.N403N	PLB1_ENST00000329020.6_Silent_p.N80N|PLB1_ENST00000327757.5_Silent_p.N392N	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	392	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTGACATCAACGTAATTGGAG	0.488000													20	85					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133250239	133250239	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:133250239G>A	ENST00000320574.5	-	13	1324	c.1281C>T	c.(1279-1281)gcC>gcT	p.A427A	POLE_ENST00000535270.1_Silent_p.A400A	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	427					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGGCCTTGGCGGCCGCCTTGA	0.582000								DNA polymerases (catalytic subunits)					124	209					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60905854	60905854	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60905854C>T	ENST00000252999.3	-	30	3863	c.3797G>A	c.(3796-3798)cGg>cAg	p.R1266Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1266	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGGGGGGCCGAGGTCGGGG	0.697000													3	7					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651306	84651306	+	Missense_Mutation	SNP	G	G	A	rs150618994		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:84651306G>A	ENST00000286744.5	+	21	3150	c.2926G>A	c.(2926-2928)Gac>Aac	p.D976N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D976N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	976	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGCTGCCCCCGACATCGGCGT	0.567000													68	116					0	0	1	0	0
HADHA	3030	broad.mit.edu	37	2	26414365	26414365	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:26414365C>T	ENST00000380649.3	-	19	2262	c.2133G>A	c.(2131-2133)ccG>ccA	p.P711P		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	711					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	CCAGACAAGGCGGGAAGCCAA	0.552000													47	43					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347172	89347172	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:89347172C>T	ENST00000301030.4	-	9	6238	c.5778G>A	c.(5776-5778)ccG>ccA	p.P1926P	ANKRD11_ENST00000378330.2_Silent_p.P1926P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1926	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGCTGGGCTCCGGGGGGATGA	0.711000													10	101					0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155457901	155457901	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:155457901G>A	ENST00000401878.3	+	2	274	c.76G>A	c.(76-78)Gcg>Acg	p.A26T	RBM33_ENST00000287912.3_Missense_Mutation_p.A26T|RBM33_ENST00000392759.3_Missense_Mutation_p.A26T	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	26							nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TAAGCCTGGCGCGGAACGGTC	0.453000													41	59					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86800128	86800128	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:86800128G>A	ENST00000441037.2	+	7	737	c.642G>A	c.(640-642)gtG>gtA	p.V214V	AGBL1_ENST00000421325.2_Silent_p.V214V	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	214					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCTCTGTGGTGCTTCAGATCC	0.562000													8	39					0	0	1	0	0
PRR25	388199	broad.mit.edu	37	16	855739	855739	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:855739G>A	ENST00000301698.1	+	1	297	c.297G>A	c.(295-297)ccG>ccA	p.P99P		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	99										large_intestine(1)|lung(1)|skin(1)	3						CAGCGCAGCCGCTCGCAAATG	0.647000													19	26					0	0	1	0	0
ZFYVE19	84936	broad.mit.edu	37	15	41102150	41102150	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:41102150C>T	ENST00000355341.4	+	4	1054	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	ZFYVE19_ENST00000336455.5_Missense_Mutation_p.R175C|ZFYVE19_ENST00000564258.1_Missense_Mutation_p.R10C|ZFYVE19_ENST00000570108.1_Missense_Mutation_p.R162C|ZFYVE19_ENST00000299173.10_Missense_Mutation_p.R185C	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	185							zinc ion binding	p.R185C(3)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGCACGACTCCGCCAGGAGAA	0.602000													45	72					0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73726060	73726060	+	Missense_Mutation	SNP	G	G	A	rs151048072		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:73726060G>A	ENST00000427855.1	+	16	1894	c.1792G>A	c.(1792-1794)Gac>Aac	p.D598N	PAPLN_ENST00000340738.5_Missense_Mutation_p.D571N|PAPLN_ENST00000555445.1_Missense_Mutation_p.D598N|PAPLN_ENST00000381166.3_Missense_Mutation_p.D598N|PAPLN_ENST00000554301.1_Missense_Mutation_p.D598N			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	598						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCCCAGGGGCGACCAAGGCAC	0.672000													57	28					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													5	72					0	0	1	0	0
CNN1	1264	broad.mit.edu	37	19	11660568	11660568	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:11660568C>T	ENST00000592923.1	+	8	1279	c.702C>T	c.(700-702)ccC>ccT	p.P234P	CNN1_ENST00000535659.2_Silent_p.P234P|CNN1_ENST00000252456.2_Silent_p.P284P|CNN1_ENST00000544952.1_Silent_p.P264P			P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	284					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						TGGGTGAGCCCGCCCACAACC	0.632000													27	133					0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55337128	55337128	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:55337128G>A	ENST00000371269.3	-	5	869	c.771C>T	c.(769-771)caC>caT	p.H257H	DHCR24_ENST00000537443.1_Silent_p.H89H|DHCR24_ENST00000535035.1_Silent_p.H216H	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	257					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GCTGGGACTCGTGGGTGAACT	0.592000													8	98					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91806240	91806240	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:91806240G>A	ENST00000389857.6	-	7	698	c.612C>T	c.(610-612)gaC>gaT	p.D204D		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	204					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CGGTGCACTCGTCCCGCTGGT	0.677000													3	7					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8636794	8636794	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:8636794C>T	ENST00000381196.4	-	10	658	c.115G>A	c.(115-117)Gga>Aga	p.G39R	PTPRD_ENST00000355233.5_Missense_Mutation_p.G39R|PTPRD_ENST00000463477.1_Missense_Mutation_p.G39R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G39R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G39R|PTPRD_ENST00000358503.5_Missense_Mutation_p.G39R|PTPRD_ENST00000397606.3_Missense_Mutation_p.G39R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G39R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G39R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G39R|PTPRD_ENST00000540109.1_Missense_Mutation_p.G39R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G39R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	39	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G39*(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GAGGCAACTCCGCCAGAGACC	0.413000										TSP Lung(15;0.13)			50	96					0	0	1	0	0
CCL20	6364	broad.mit.edu	37	2	228678691	228678691	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:228678691G>A	ENST00000409189.3	+	1	134	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	CCL20_ENST00000358813.4_Missense_Mutation_p.G22S	NM_001130046.1|NM_004591.2	NP_001123518.1|NP_004582.1	P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20	22					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CCACCTCTGCGGCGAATCAGA	0.473000													24	258					0	0	1	0	0
ELP4	26610	broad.mit.edu	37	11	31805009	31805009	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:31805009C>T	ENST00000379163.5	+	11	1369	c.1354C>T	c.(1354-1356)Cgc>Tgc	p.R452C	ELP4_ENST00000350638.5_Silent_p.S404S|ELP4_ENST00000395934.2_3'UTR			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	349					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TGGCAGAATCCGCCAAGCGGC	0.522000													42	125					0	0	1	0	0
PCDHA6	0	broad.mit.edu	37	5	140209817	140209817	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140209817C>T	ENST00000529310.1	+	1	2255	c.2141C>T	c.(2140-2142)aCg>aTg	p.T714M	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.T714M(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTCCTCACGCTACTGCTG	0.706000													81	128					0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64811871	64811871	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:64811871G>A	ENST00000332707.5	+	5	775	c.246G>A	c.(244-246)acG>acA	p.T82T		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	82	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TTAGGGAGACGCTCATATCAT	0.323000													32	71					0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117100140	117100140	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:117100140G>A	ENST00000320934.3	-	3	1051	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	141		Cleavage; by autolysis (By similarity).			peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TGGACGCTGCGCTTGGCCCGC	0.617000			T	IGH@	MLCLS								48	170					0	0	1	0	0
ASUN	55726	broad.mit.edu	37	12	27069110	27069110	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:27069110C>T	ENST00000261191.7	-	11	1609	c.1073G>A	c.(1072-1074)cGt>cAt	p.R358H	ASUN_ENST00000539625.1_Missense_Mutation_p.R257H	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	358					cell division|mitosis|regulation of mitotic cell cycle		protein binding										TAAAACAGAACGACCTGTCAA	0.338000													16	39					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73717091	73717091	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:73717091C>T	ENST00000264448.6	+	10	8113	c.8002C>T	c.(8002-8004)Cga>Tga	p.R2668*	ALMS1_ENST00000409009.1_Nonsense_Mutation_p.R2626*	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2668					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAAAGGTCTTCGAATGCCATT	0.378000													95	176					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37866098	37866098	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:37866098C>T	ENST00000406381.2	+	7	1027	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	ERBB2_ENST00000540042.1_Missense_Mutation_p.R173C|ERBB2_ENST00000269571.5_Missense_Mutation_p.R203C|ERBB2_ENST00000540147.1_Missense_Mutation_p.R173C|ERBB2_ENST00000578199.1_Missense_Mutation_p.R173C|ERBB2_ENST00000584450.1_Missense_Mutation_p.R203C|ERBB2_ENST00000584601.1_Missense_Mutation_p.R173C|ERBB2_ENST00000541774.1_Missense_Mutation_p.R188C|ERBB2_ENST00000445658.2_Intron	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	203					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TAAGGGCTCCCGCTGCTGGGG	0.597000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			74	18					0	0	1	0	0
CENPT	80152	broad.mit.edu	37	16	67863714	67863714	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67863714G>A	ENST00000562787.1	-	12	1688	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	CENPT_ENST00000440851.2_Silent_p.D380D|CENPT_ENST00000219172.3_Silent_p.D380D|CENPT_ENST00000564817.1_Intron	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	380					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTCCTGGCCCGTCAGCCTCAG	0.612000													57	149					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101567987	101567987	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:101567987G>A	ENST00000284395.5	+	20	3062	c.2662G>A	c.(2662-2664)Gag>Aag	p.E888K	LRRK1_ENST00000388948.3_Missense_Mutation_p.E891K			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	891					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAAGGACTACGAGGACCTGCA	0.617000													5	10					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8201185	8201185	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:8201185C>T	ENST00000600128.1	-	12	1768	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	FBN3_ENST00000270509.2_Missense_Mutation_p.E452K|FBN3_ENST00000601739.1_Missense_Mutation_p.E452K			Q75N90	FBN3_HUMAN	fibrillin 3	452	EGF-like 4; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGGTGCATTCGTCTACATCT	0.677000													37	103					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22168798	22168798	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:22168798C>T	ENST00000374695.3	-	68	9065	c.8986G>A	c.(8986-8988)Ggc>Agc	p.G2996S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2996	Ig-like C2-type 15.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGCCTGGGCCGCTGGCTGCA	0.642000													12	63					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180046723	180046723	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:180046723G>A	ENST00000261937.6	-	18	2667	c.2589C>T	c.(2587-2589)tcC>tcT	p.S863S	FLT4_ENST00000502649.1_Silent_p.S863S|FLT4_ENST00000393347.3_Silent_p.S863S	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	863	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGCCGAAAGCGGAGGCTTCCA	0.657000													84	160					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46656282	46656282	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:46656282C>T	ENST00000544460.1	+	1	671	c.417C>T	c.(415-417)tgC>tgT	p.C139C	TDRD6_ENST00000316081.6_Silent_p.C139C	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	139					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CGGCAGGCTGCGGCGCGGGCT	0.711000													4	19					0	0	1	0	0
ACAD11	84129	broad.mit.edu	37	3	132361582	132361582	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:132361582A>G	ENST00000264990.6	-	3	1285	c.314T>C	c.(313-315)aTa>aCa	p.I105T	ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Missense_Mutation_p.I105T|ACAD11_ENST00000481970.2_Missense_Mutation_p.I105T|ACAD11_ENST00000545291.1_5'UTR	NM_032169.4	NP_115545.3			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GCAGTACAGTATAGGCTTGGG	0.328000													107	31					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82026998	82026998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:82026998G>A	ENST00000395578.1	-	16	2148	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*	PRKG2_ENST00000418486.2_Nonsense_Mutation_p.R649*|PRKG2_ENST00000545647.1_Nonsense_Mutation_p.R258*|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Nonsense_Mutation_p.R678*			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	678	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TCCTCAGGTCGTCGTGTTATC	0.423000													28	121					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144096159	144096159	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:144096159G>A	ENST00000467773.1	-	8	1352	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A	NOBOX_ENST00000223140.5_Silent_p.A334A|NOBOX_ENST00000483238.1_Silent_p.A419A	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	451	Pro-rich.				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AAGGAAGATCGGCCCTTCGCA	0.632000													11	25					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49422916	49422916	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49422916A>G	ENST00000301067.7	-	44	14178	c.14179T>C	c.(14179-14181)Tca>Cca	p.S4727P		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CACCGGCCTGAGCCCAGATGA	0.617000													12	59					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215809802	215809802	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:215809802C>T	ENST00000272895.7	-	49	7485	c.7266G>A	c.(7264-7266)ccG>ccA	p.P2422P	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Silent_p.P2104P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2422	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.P2422P(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTTTCGACTTCGGATCCATGC	0.363000													26	29					0	0	1	0	0
ZCCHC9	84240	broad.mit.edu	37	5	80604490	80604490	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:80604490C>T	ENST00000254037.2	+	2	3650	c.495C>T	c.(493-495)caC>caT	p.H165H	ZCCHC9_ENST00000407610.3_Silent_p.H165H|ZCCHC9_ENST00000438268.2_Silent_p.H165H|ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000380199.5_Silent_p.H165H			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	165							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		CCACAGAGCACGAAATAACCA	0.448000													38	54					0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	28989840	28989840	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:28989840C>T	ENST00000524189.1	-	23	2965	c.2927G>A	c.(2926-2928)cGt>cAt	p.R976H	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	976					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCGAAGACTACGTGTCTTTGC	0.388000													30	70					0	0	1	0	0
MKX	283078	broad.mit.edu	37	10	28023587	28023587	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:28023587G>A	ENST00000375790.5	-	5	1068	c.636C>T	c.(634-636)taC>taT	p.Y212Y	MKX_ENST00000419761.1_Silent_p.Y212Y			Q8IYA7	MKX_HUMAN	mohawk homeobox	212					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GGGGTGCCACGTAGTCCTCAC	0.488000													88	59					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91382483	91382483	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:91382483G>A	ENST00000370440.1	-	6	4073	c.3856C>T	c.(3856-3858)Cga>Tga	p.R1286*	ZNF644_ENST00000347275.5_Nonsense_Mutation_p.R64*|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.R1286*|ZNF644_ENST00000361321.5_Nonsense_Mutation_p.R64*|ZNF644_ENST00000467231.1_5'UTR			Q9H582	ZN644_HUMAN	zinc finger protein 644	1286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ACAATATGTCGTTGTAAGTGC	0.423000													27	50					0	0	1	0	0
SNHG14	0	broad.mit.edu	37	15	25331678	25331678	+	RNA	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:25331678C>T	ENST00000546682.1	+	0	453				SNHG14_ENST00000553108.1_RNA|SNORD116-19_ENST00000384729.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						GTGCGTGGATCGATGATGACT	0.453000													47	196					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201757608	201757608	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:201757608C>T	ENST00000367296.4	+	10	3428	c.3008C>T	c.(3007-3009)gCg>gTg	p.A1003V	NAV1_ENST00000295624.6_Missense_Mutation_p.A1003V|NAV1_ENST00000367295.1_Missense_Mutation_p.A612V|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367297.4_Missense_Mutation_p.A1003V|NAV1_ENST00000367302.1_Intron|NAV1_ENST00000367300.3_Intron|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1003					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AGTCCCACTGCGGCCACCACG	0.652000													12	202					0	0	1	0	0
CHRNG	1146	broad.mit.edu	37	2	233405401	233405401	+	Silent	SNP	G	G	A	rs149931943		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:233405401G>A	ENST00000389494.3	+	4	351	c.330G>A	c.(328-330)ccG>ccA	p.P110P	CHRNG_ENST00000389492.3_Silent_p.P110P	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	110					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		TGTGGCGGCCGGATATCGTGC	0.642000													21	13					0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15918656	15918656	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:15918656G>A	ENST00000334920.2	-	1	280	c.192C>T	c.(190-192)tgC>tgT	p.C64C		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CGGAGAGGGCGCACAGGAAGA	0.642000													53	118					0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136910513	136910513	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:136910513C>T	ENST00000303407.7	-	7	1302	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	BRD3_ENST00000357885.2_Missense_Mutation_p.A373T|BRD3_ENST00000371834.2_Missense_Mutation_p.A373T	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	373	Bromo 2.					nucleus	protein binding	p.A373T(2)	BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AAGCCCTGTGCGTCTGGGTAC	0.592000			T	C15orf55	lethal midline carcinoma of young people								38	230					0	0	1	0	0
TYMP	1890	broad.mit.edu	37	22	50967656	50967656	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:50967656C>T	ENST00000252029.3	-	3	488	c.326G>A	c.(325-327)cGc>cAc	p.R109H	TYMP_ENST00000395678.3_Missense_Mutation_p.R109H|TYMP_ENST00000395680.1_Missense_Mutation_p.R109H|TYMP_ENST00000395681.1_Missense_Mutation_p.R109H	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	109					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	AAGCTGCTGGCGCCAGGCCTC	0.642000													38	87					0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49392947	49392947	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49392947A>G	ENST00000421952.2	-	1	145	c.124T>C	c.(124-126)Tcc>Ccc	p.S42P	RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	42						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TAATGACAGGAAATAGTCTTC	0.607000													27	44					0	0	1	0	0
ASMTL	8623	broad.mit.edu	37	X	1536976	1536976	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:1536976C>T	ENST00000534940.1	-	11	1463	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	ASMTL_ENST00000381317.3_Missense_Mutation_p.R471H|ASMTL_ENST00000416733.2_Missense_Mutation_p.R395H|ASMTL_ENST00000381333.4_Missense_Mutation_p.R455H	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	471	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGGTACTCACGGGCCAGCTC	0.612000													15	45					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70991907	70991907	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:70991907C>T	ENST00000322954.6	-	2	356	c.171G>A	c.(169-171)aaG>aaA	p.K57K	UACA_ENST00000560441.1_Silent_p.K44K|UACA_ENST00000539319.1_Silent_p.K57K|UACA_ENST00000379983.2_Silent_p.K44K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	57						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GATTGACCCCCTTTTTAGCAA	0.403000													65	90					0	0	1	0	0
TUBB4B	10383	broad.mit.edu	37	9	140137526	140137526	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:140137526G>A	ENST00000340384.4	+	4	1004	c.856G>A	c.(856-858)Gtg>Atg	p.V286M		NM_006088.5	NP_006079.1	P68371	TBB2C_HUMAN	tubulin, beta 4B class IVb	286					'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding										GGCGCTGACCGTGCCCGAGCT	0.657000													31	113					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282395	152282395	+	Missense_Mutation	SNP	C	C	T	rs139975241		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:152282395C>T	ENST00000368799.1	-	3	5002	c.4967G>A	c.(4966-4968)cGt>cAt	p.R1656H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1656	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGCATGACGAGTGCCTGA	0.567000									Ichthyosis				236	448					0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5540761	5540761	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:5540761G>A	ENST00000382368.3	-	3	1262	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V	FBXL18_ENST00000453700.3_Missense_Mutation_p.A380V	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	380									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCAGCAGGACGCCACCAGAGT	0.687000													20	105					0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53925205	53925205	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:53925205G>A	ENST00000371445.3	+	1	134	c.79G>A	c.(79-81)Gcg>Acg	p.A27T		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	27					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CAAGGGACACGCGGGCAAATG	0.612000													20	39					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41554024	41554024	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:41554024C>T	ENST00000396942.1	-	26	2900	c.2817G>A	c.(2815-2817)ccG>ccA	p.P939P	ANK1_ENST00000289734.7_Silent_p.P939P|ANK1_ENST00000396945.1_Silent_p.P939P|ANK1_ENST00000347528.4_Silent_p.P939P|ANK1_ENST00000352337.4_Silent_p.P939P|ANK1_ENST00000265709.8_Silent_p.P980P|ANK1_ENST00000379758.2_Silent_p.P939P			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	939	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACGTCCGTGGCGGGATCACCA	0.677000													25	45					0	0	1	0	0
DMTN	2039	broad.mit.edu	37	8	21926949	21926949	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:21926949C>T	ENST00000358242.3	+	6	807	c.314C>T	c.(313-315)tCg>tTg	p.S105L	DMTN_ENST00000517600.1_Missense_Mutation_p.S65L|DMTN_ENST00000523782.2_Missense_Mutation_p.S80L|DMTN_ENST00000523266.1_Missense_Mutation_p.S105L|DMTN_ENST00000443491.2_Missense_Mutation_p.S80L|DMTN_ENST00000381470.3_Missense_Mutation_p.S105L|DMTN_ENST00000415253.1_Missense_Mutation_p.S105L|DMTN_ENST00000519907.1_Missense_Mutation_p.S105L|DMTN_ENST00000432128.1_Missense_Mutation_p.S105L|DMTN_ENST00000265800.5_Missense_Mutation_p.S105L					dematin actin binding protein																		GACAGCCGGTCGCCTGGAATC	0.657000													17	38					0	0	1	0	0
SEMA3A	10371	broad.mit.edu	37	7	83823817	83823817	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:83823817A>G	ENST00000265362.3	-	1	400	c.86T>C	c.(85-87)gTg>gCg	p.V29A	SEMA3A_ENST00000436949.1_Missense_Mutation_p.V29A	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	29					axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CAGCCTTGGCACATTGTTCTT	0.418000													29	210					0	0	1	0	0
CD28	940	broad.mit.edu	37	2	204599561	204599561	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:204599561C>T	ENST00000374481.3	+	5	559	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C	CD28_ENST00000374478.4_Missense_Mutation_p.R78C|CD28_ENST00000324106.7_Missense_Mutation_p.R197C|CD28_ENST00000458610.2_Missense_Mutation_p.R211C			P10747	CD28_HUMAN	CD28 molecule	197	Ig-like V-type.				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CATGACTCCCCGCCGCCCCGG	0.597000													83	173					0	0	1	0	0
GRK4	2868	broad.mit.edu	37	4	3037185	3037185	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:3037185G>A	ENST00000398052.4	+	13	1685	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	GRK4_ENST00000504933.1_Missense_Mutation_p.V448M|GRK4_ENST00000398051.4_Missense_Mutation_p.V416M|GRK4_ENST00000345167.6_Missense_Mutation_p.V416M|GRK4_ENST00000509545.1_Intron	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	448	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCAGCACCCCGTGTTCAAGGA	0.582000													67	121					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2524272	2524272	+	Splice_Site	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:2524272G>A	ENST00000288709.6	-	20	2214	c.1974_splice	c.e20+1	p.N658_splice	MMEL1_ENST00000502556.1_Splice_Site_p.N510_splice|MMEL1_ENST00000378412.3_Splice_Site_p.N667_splice	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	667					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|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;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CAGCGCTCACGTTCTGTTCGT	0.637000													4	96					0	0	1	0	0
LILRB4	0	broad.mit.edu	37	19	55175317	55175317	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55175317G>A	ENST00000391736.1	+	5	491	c.176G>A	c.(175-177)cGt>cAt	p.R59H	LILRB4_ENST00000391733.3_Missense_Mutation_p.R59H|LILRB4_ENST00000270452.2_Missense_Mutation_p.R59H|LILRB4_ENST00000430952.2_Missense_Mutation_p.R59H|LILRB4_ENST00000391734.3_Missense_Mutation_p.R59H	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	59	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CGGGAGTACCGTCTGGATAAA	0.587000													85	117					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37770333	37770333	+	Silent	SNP	G	G	A	rs144585839		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:37770333G>A	ENST00000402918.1	-	3	2027	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A	ELFN2_ENST00000349653.3_Silent_p.A414A|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	414						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGTAGTACACGGCTCCCAGCA	0.607000													56	115					0	0	1	0	0
HTRA4	203100	broad.mit.edu	37	8	38840023	38840023	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:38840023C>T	ENST00000302495.4	+	7	1221	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	374					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CCAGGAAAGGCGTTTTCAAAT	0.428000													16	46					0	0	1	0	0
PRSS50	29122	broad.mit.edu	37	3	46759103	46759103	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:46759103G>A	ENST00000460241.1	-	7	1801	c.131C>T	c.(130-132)cCg>cTg	p.P44L	PRSS50_ENST00000315170.7_Missense_Mutation_p.P44L			Q9UI38	TSP50_HUMAN	protease, serine, 50	44					proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	p.P44L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAGCGCCCCCGGGGCTTCCCC	0.706000													36	13					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8674675	8674675	+	Missense_Mutation	SNP	G	G	A	rs142313428		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:8674675G>A	ENST00000337907.3	-	5	1101	c.467C>T	c.(466-468)cCg>cTg	p.P156L	RERE_ENST00000400907.2_Missense_Mutation_p.P156L|RERE_ENST00000400908.2_Missense_Mutation_p.P156L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	156	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGATGCCACCGGCAGAGAGCA	0.488000													44	168					0	0	1	0	0
ADRBK2	157	broad.mit.edu	37	22	26118335	26118335	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:26118335C>T	ENST00000324198.5	+	21	2177	c.1985C>T	c.(1984-1986)cCg>cTg	p.P662L		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	662							ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CGTCGTGCCCCGAAGTTCCTC	0.542000													40	135					0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52713013	52713013	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:52713013C>T	ENST00000293670.3	-	2	582	c.520G>A	c.(520-522)Gtg>Atg	p.V174M		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	174	Coil 1B.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGCCTCCACGCACTCGGCC	0.612000													81	169					0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93118358	93118358	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:93118358G>A	ENST00000216487.7	+	6	1123	c.964G>A	c.(964-966)Gtc>Atc	p.V322I	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	322	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				tgcccccCACGTCACACCCCA	0.711000													12	5					0	0	1	0	0
C9orf152	401546	broad.mit.edu	37	9	112963591	112963591	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:112963591C>T	ENST00000400613.4	-	2	966	c.357G>A	c.(355-357)acG>acA	p.T119T	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	119										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TCTCCAGGTGCGTGTGCCATG	0.587000													22	142					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12142226	12142226	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:12142226C>T	ENST00000263035.4	+	9	1783	c.1721C>T	c.(1720-1722)gCg>gTg	p.A574V		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	574					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TGGGCCACCGCGGAAGCTCTT	0.423000													47	173					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173551052	173551052	+	Missense_Mutation	SNP	C	C	T	rs4916373		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:173551052C>T	ENST00000367714.3	-	7	1158	c.736G>A	c.(736-738)Gtt>Att	p.V246I	SLC9C2_ENST00000536496.1_Missense_Mutation_p.V144I|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	246					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TTGCTAAAAACGTCAGCCAAT	0.323000													26	30					0	0	1	0	0
KCTD10	83892	broad.mit.edu	37	12	109889453	109889453	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:109889453C>T	ENST00000228495.6	-	7	1170	c.889G>A	c.(889-891)Gtg>Atg	p.V297M	KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540089.1_Missense_Mutation_p.V116M|KCTD10_ENST00000540411.1_Missense_Mutation_p.V271M|KCTD10_ENST00000424763.2_Missense_Mutation_p.V116M	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	297					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						ATCCTCCGCACGCGCTCGATC	0.716000													46	80					0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122835949	122835949	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:122835949C>T	ENST00000264811.5	-	3	1526	c.1108G>A	c.(1108-1110)Gca>Aca	p.A370T	TRPC3_ENST00000379645.3_Missense_Mutation_p.A443T|TRPC3_ENST00000513531.1_Intron	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	358					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTGCAAGGTGCGATCCAGTAG	0.483000													29	46					0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115590971	115590971	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:115590971G>A	ENST00000265440.7	-	6	652	c.472C>T	c.(472-474)Cga>Tga	p.R158*	TFEC_ENST00000393485.1_Nonsense_Mutation_p.R129*|TFEC_ENST00000320239.7_Nonsense_Mutation_p.R129*|TFEC_ENST00000457268.1_Nonsense_Mutation_p.R91*|TFEC_ENST00000484212.1_Nonsense_Mutation_p.R248*	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	158	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TCCTTGATTCGGTAATTAATA	0.299000													15	43					0	0	1	0	0
LYPD4	147719	broad.mit.edu	37	19	42343292	42343292	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:42343292C>T	ENST00000601246.1	-	4	438	c.68G>A	c.(67-69)cGt>cAt	p.R23H	LYPD4_ENST00000343055.4_Missense_Mutation_p.R23H|LYPD4_ENST00000330743.3_Splice_Site			Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	23						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						ACAGGACATACGAGGCAGAGT	0.577000													7	147					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33604946	33604946	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:33604946G>A	ENST00000321505.4	+	10	3754	c.3574G>A	c.(3574-3576)Gtg>Atg	p.V1192M	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V1198M|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.V1198M					KIAA1549-like																		GCCCATTGCCGTGGTCACGGT	0.547000													9	11					0	0	1	0	0
ARC	23237	broad.mit.edu	37	8	143694472	143694472	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:143694472G>A	ENST00000356613.2	-	1	2361	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	387					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CACTGGCCACGGACTCGCTGT	0.701000													11	11					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207793265	207793265	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:207793265G>A	ENST00000367049.4	+	43	7107	c.7107G>A	c.(7105-7107)tcG>tcA	p.S2369S	CR1_ENST00000367053.1_Silent_p.S1919S|CR1_ENST00000367052.1_Silent_p.S1919S|CR1_ENST00000400960.2_Silent_p.S1919S|CR1_ENST00000367051.1_Silent_p.S1919S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1919					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATGGAATCTCGAAGGAGTTAG	0.363000													6	14					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11660881	11660881	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:11660881G>A	ENST00000262442.3	+	35	6935	c.6867G>A	c.(6865-6867)ccG>ccA	p.P2289P	DNAH9_ENST00000454412.2_Silent_p.P2289P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2289	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACATCAACCCGGCAGACTTGG	0.428000													16	62					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241680733	241680733	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:241680733G>A	ENST00000498729.2	-	35	3948	c.3702C>T	c.(3700-3702)taC>taT	p.Y1234Y	KIF1A_ENST00000320389.7_Silent_p.Y1133Y	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1133					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCAGCAGGTCGTACTTGCAGT	0.662000													11	14					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91737807	91737807	+	Splice_Site	SNP	G	G	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:91737807G>T	ENST00000359028.2	+	49	11783		c.e49-1		AKAP9_ENST00000358100.2_Splice_Site|AKAP9_ENST00000356239.3_Splice_Site			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9						G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAATCCTTTAGGTACCCAGGC	0.423000			T	BRAF	papillary thyroid								15	98					1.67942e-08	1.70918e-08	1	1	0
MYO1F	4542	broad.mit.edu	37	19	8601249	8601249	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:8601249G>A	ENST00000338257.8	-	19	2197	c.1930C>T	c.(1930-1932)Cgg>Tgg	p.R644W		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	644	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCACGCCACCGCGGCCACGTC	0.647000													59	78					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49088267	49088267	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:49088267G>A	ENST00000376265.2	-	2	209	c.148C>T	c.(148-150)Cga>Tga	p.R50*	CACNA1F_ENST00000376251.1_Intron|CACNA1F_ENST00000323022.5_Nonsense_Mutation_p.R50*	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	50					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TGGTTTCTTCGCTTAGGGGTC	0.652000													6	17					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577138	7577138	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7577138C>T	ENST00000420246.2	-	8	932	c.800G>A	c.(799-801)cGg>cAg	p.R267Q	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R267Q|TP53_ENST00000445888.2_Missense_Mutation_p.R267Q|TP53_ENST00000455263.2_Missense_Mutation_p.R267Q|TP53_ENST00000269305.4_Missense_Mutation_p.R267Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		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.R267P(17)|p.R267Q(10)|p.0?(8)|p.R267L(6)|p.N268fs*77(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		AAAGCTGTTCCGTCCCAGTAG	0.527000		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)			40	14					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141035270	141035270	+	Missense_Mutation	SNP	C	C	T	rs138515824	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:141035270C>T	ENST00000239440.4	-	31	4093	c.4028G>A	c.(4027-4029)cGt>cAt	p.R1343H	ARAP3_ENST00000508305.1_Missense_Mutation_p.R1174H|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.R1005H	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1343					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AAACTTCTGACGGGCAAGGTC	0.597000													41	70					0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22048118	22048118	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:22048118C>T	ENST00000406385.1	+	16	1213	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C	PPIL2_ENST00000412327.1_Missense_Mutation_p.R385C|PPIL2_ENST00000398831.3_Missense_Mutation_p.R385C|PPIL2_ENST00000456792.2_Missense_Mutation_p.R364C|PPIL2_ENST00000492445.2_Missense_Mutation_p.R385C|PPIL2_ENST00000335025.7_Missense_Mutation_p.R385C			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2	385	PPIase cyclophilin-type.				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					CATCACGTTTCGCTCCTGTGC	0.602000													116	152					0	0	1	0	0
UGT1A8	0	broad.mit.edu	37	2	234526381	234526381	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:234526381A>G	ENST00000373450.4	+	1	91	c.28A>G	c.(28-30)Att>Gtt	p.I10V		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		GACCAGCCCCATTCCCCTATG	0.572000													57	64					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15072860	15072860	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:15072860C>T	ENST00000598504.1	-	8	2248	c.889G>A	c.(889-891)Gac>Aac	p.D297N	SLC1A6_ENST00000544886.2_Missense_Mutation_p.D297N|SLC1A6_ENST00000430939.2_Missense_Mutation_p.D233N|SLC1A6_ENST00000221742.3_Missense_Mutation_p.D297N|SLC1A6_ENST00000600144.1_Missense_Mutation_p.D297N	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	297					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TTGAGGCTGTCGAAGAAGTCC	0.572000													75	101					0	0	1	0	0
RNF125	54941	broad.mit.edu	37	18	29648291	29648291	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:29648291C>T	ENST00000217740.3	+	6	1135	c.643C>T	c.(643-645)Cga>Tga	p.R215*	RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	215					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						AGCTCTTATCCGAAGAGTCTT	0.338000													30	26					0	0	1	0	0
CENPK	64105	broad.mit.edu	37	5	64814369	64814369	+	Missense_Mutation	SNP	C	C	T	rs147863579		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:64814369C>T	ENST00000396679.1	-	11	957	c.743G>A	c.(742-744)cGt>cAt	p.R248H	CENPK_ENST00000508421.1_Missense_Mutation_p.R218H|CENPK_ENST00000514814.1_Missense_Mutation_p.R248H|CENPK_ENST00000242872.3_Missense_Mutation_p.R248H|CENPK_ENST00000510693.1_Missense_Mutation_p.R185H	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	248					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AATTCCATTACGCAGCAGCAG	0.353000													35	77					0	0	1	0	0
NINJ2	4815	broad.mit.edu	37	12	674455	674455	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:674455G>A	ENST00000305108.4	-	3	793	c.513C>T	c.(511-513)ttC>ttT	p.F171F	NINJ2_ENST00000397265.3_Silent_p.F118F|NINJ2_ENST00000542920.1_Silent_p.F89F	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	125					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			TATGTGCCCCGAAGGCTGTAA	0.537000													9	91					0	0	1	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153276410	153276410	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:153276410G>A	ENST00000290722.1	-	4	504	c.452C>T	c.(451-453)tCg>tTg	p.S151L		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	151					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATACCTGGGCGACAGGTGACC	0.552000													55	58					0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38051660	38051660	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:38051660G>A	ENST00000357436.4	+	18	2388	c.2075G>A	c.(2074-2076)cGc>cAc	p.R692H	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Intron	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	692					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CCTCAGCCCCGCCCCAGGAGC	0.677000													8	7					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451430	55451430	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55451430C>T	ENST00000588756.1	-	6	1243	c.757G>A	c.(757-759)Gat>Aat	p.D253N	NLRP7_ENST00000590030.1_Missense_Mutation_p.D253N|NLRP7_ENST00000446217.1_Missense_Mutation_p.D281N|NLRP7_ENST00000340844.2_Missense_Mutation_p.D253N|NLRP7_ENST00000328092.5_Missense_Mutation_p.D253N|NLRP7_ENST00000448121.2_Missense_Mutation_p.D253N|NLRP7_ENST00000592784.1_Missense_Mutation_p.D253N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	253	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCAAGGCCATCGACCACGAAC	0.567000													94	98					0	0	1	0	0
PHC2	1912	broad.mit.edu	37	1	33837953	33837953	+	Silent	SNP	G	G	A	rs145356735		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:33837953G>A	ENST00000257118.5	-	2	323	c.270C>T	c.(268-270)acC>acT	p.T90T	PHC2_ENST00000419414.2_Silent_p.T90T|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Silent_p.T90T	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	90	Gln-rich.				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGAGCGCCGCGGTCTGCAGCA	0.667000													41	58					0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50326252	50326252	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:50326252G>A	ENST00000436390.1	-	12	1499	c.1002C>T	c.(1000-1002)cgC>cgT	p.R334R	IFRD2_ENST00000429673.2_Silent_p.R398R|IFRD2_ENST00000336089.4_Silent_p.R500R|IFRD2_ENST00000417626.2_Silent_p.R334R			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	398							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCAGCACGGCGCGGAAAGTAG	0.602000													26	9					0	0	1	0	0
GGT6	124975	broad.mit.edu	37	17	4461802	4461802	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:4461802G>A	ENST00000301395.3	-	3	953	c.894C>T	c.(892-894)tcC>tcT	p.S298S	GGT6_ENST00000381550.3_Silent_p.S336S|GGT6_ENST00000574154.1_Silent_p.S330S|GGT6_ENST00000573591.1_Silent_p.S182S	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	330					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGGGCGCCCCGGAGCGCAGGG	0.692000													3	13					0	0	1	0	0
VPS51	738	broad.mit.edu	37	11	64875676	64875676	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:64875676G>A	ENST00000279281.3	+	5	825	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)																		CAGGGAGGGCGGCTCAGGCGC	0.716000													5	17					0	0	1	0	0
CTB-52I2.8	0	broad.mit.edu	37	19	18092920	18092920	+	RNA	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:18092920G>A	ENST00000601725.1	+	0	536																											AGCCTGGACCGTGCGCGTCTG	0.652000													12	7					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41577305	41577305	+	Silent	SNP	G	G	A	rs61758867	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:41577305G>A	ENST00000396942.1	-	10	1064	c.981C>T	c.(979-981)taC>taT	p.Y327Y	ANK1_ENST00000289734.7_Silent_p.Y327Y|ANK1_ENST00000396945.1_Silent_p.Y327Y|ANK1_ENST00000347528.4_Silent_p.Y327Y|ANK1_ENST00000352337.4_Silent_p.Y327Y|ANK1_ENST00000265709.8_Silent_p.Y360Y|ANK1_ENST00000379758.2_Silent_p.Y327Y			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	327	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCTCTGCGTCGTATTGCAACA	0.567000													51	103					0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60574065	60574065	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60574065G>A	ENST00000252996.3	-	12	2886	c.2887C>T	c.(2887-2889)Cgg>Tgg	p.R963W		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	963					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			AGGATCTCCCGCTCCTGCTCA	0.557000													178	279					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1684083	1684083	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:1684083C>T	ENST00000252804.4	-	7	662	c.612G>A	c.(610-612)gcG>gcA	p.A204A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	204	LRRCT.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCAGCAAATCCGCCAACCACA	0.587000													22	19					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77376996	77376996	+	Missense_Mutation	SNP	G	G	A	rs141526694	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:77376996G>A	ENST00000451710.3	-	26	4828	c.4591C>T	c.(4591-4593)Cgc>Tgc	p.R1531C	TRPM6_ENST00000449912.2_Missense_Mutation_p.R1526C|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1531C|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1526C|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1531C			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1531					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTGTATCTGCGGAGAGGATTG	0.423000													41	70					0	0	1	0	0
TRUB2	26995	broad.mit.edu	37	9	131072049	131072049	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:131072049C>T	ENST00000372890.4	-	8	1109	c.776G>A	c.(775-777)cGc>cAc	p.R259H	TRUB2_ENST00000546104.1_Missense_Mutation_p.R203H|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	259					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						GAAGCCGTCGCGCGTGCGCCG	0.582000													27	54					0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48908573	48908573	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:48908573G>A	ENST00000263269.3	+	3	1136	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	350						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CGACTGTCGCGCCCAGAACCG	0.652000													17	7					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25464537	25464537	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:25464537C>T	ENST00000264709.3	-	17	2313	c.1976G>A	c.(1975-1977)cGc>cAc	p.R659H	DNMT3A_ENST00000402667.1_Missense_Mutation_p.R436H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R659H|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R470H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	659					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.R659H(1)|p.R470H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAATGTAGCGGTCCACCTG	0.627000			"""Mis, F, N, S"""		AML								31	28					0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48422276	48422276	+	Missense_Mutation	SNP	G	G	A	rs144607752	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:48422276G>A	ENST00000296438.5	+	8	1045	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	FBXW12_ENST00000445170.1_Missense_Mutation_p.A268T|FBXW12_ENST00000415155.1_Missense_Mutation_p.A217T|FBXW12_ENST00000436231.1_Missense_Mutation_p.A130T|FBXW12_ENST00000468158.1_3'UTR	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	287										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATGTGCCAGCGCCTGCTGGAC	0.443000													116	35					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151261051	151261051	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:151261051C>T	ENST00000368879.2	+	3	2261	c.2163C>T	c.(2161-2163)agC>agT	p.S721S		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	721					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGCTTCAGCGCCCACCAGC	0.572000													52	116					0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183524	197183524	+	Missense_Mutation	SNP	G	G	A	rs139251909		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:197183524G>A	ENST00000260983.2	-	9	2272	c.2090C>T	c.(2089-2091)tCg>tTg	p.S697L	HECW2_ENST00000409111.1_Missense_Mutation_p.S341L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	697					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGATTCCTGCGACCCTTCGGC	0.612000													6	110					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34923567	34923567	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:34923567C>T	ENST00000356577.4	+	3	2505	c.2030C>T	c.(2029-2031)tCg>tTg	p.S677L	SON_ENST00000300278.4_Missense_Mutation_p.S677L|SON_ENST00000381679.4_Missense_Mutation_p.S677L|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.S677L	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	677					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GAGGTGCCCTCGACGACAGCG	0.557000													27	97					0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176021	57176021	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:57176021C>T	ENST00000537055.2	-	2	777	c.546G>A	c.(544-546)gcG>gcA	p.A182A		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCCAGTGGGACGCCAGGTACG	0.716000													8	21					0	0	1	0	0
ICMT	23463	broad.mit.edu	37	1	6285295	6285295	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6285295C>T	ENST00000343813.5	-	5	728	c.700G>A	c.(700-702)Gtc>Atc	p.V234I		NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	234					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GCATAGCTGACGCCGCAGATG	0.517000													44	84					0	0	1	0	0
NTN3	4917	broad.mit.edu	37	16	2522004	2522004	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2522004C>T	ENST00000293973.1	+	1	505	c.302C>T	c.(301-303)gCg>gTg	p.A101V		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	101	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CTGCCTCGGGCGCCCCTCAAC	0.706000													15	53					0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5322671	5322671	+	Missense_Mutation	SNP	C	C	T	rs115916434	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:5322671C>T	ENST00000380224.1	-	1	555	c.506G>A	c.(505-507)cGt>cAt	p.R169H	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGAGGGCACGGGAACCACA	0.423000													52	70					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245848743	245848743	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:245848743G>A	ENST00000366518.4	+	9	1419	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	KIF26B_ENST00000407071.2_Missense_Mutation_p.E820K			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	820					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GAGCTCCTGCGAAGAAGGCCG	0.652000													18	36					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95095762	95095762	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:95095762G>A	ENST00000371501.4	-	41	4601	c.4479C>T	c.(4477-4479)ggC>ggT	p.G1493G	MYOF_ENST00000359263.4_Silent_p.G1493G|MYOF_ENST00000358334.5_Silent_p.G1480G|MYOF_ENST00000371502.4_Silent_p.G1512G			Q9NZM1	MYOF_HUMAN	myoferlin	1493					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGTCTGTCAGGCCCTCAAATT	0.383000													7	148					0	0	1	0	0
CHRNE	1145	broad.mit.edu	37	17	4804399	4804399	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:4804399C>T	ENST00000293780.4	-	7	698	c.688G>A	c.(688-690)Gtc>Atc	p.V230I	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	230					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.V230F(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						GAGTAGATGACGTCAGTCTCC	0.652000													114	62					0	0	1	0	0
FRMD1	79981	broad.mit.edu	37	6	168463623	168463623	+	Missense_Mutation	SNP	C	C	T	rs115999698	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:168463623C>T	ENST00000283309.6	-	7	885	c.821G>A	c.(820-822)cGt>cAt	p.R274H	FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000537786.1_Missense_Mutation_p.R45H|FRMD1_ENST00000440994.2_Missense_Mutation_p.R206H	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	274	FERM.		R -> C (in dbSNP:rs902393).			cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CACGGTGGGACGACCTTCCTT	0.622000													29	58					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58108831	58108831	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:58108831C>T	ENST00000357272.4	+	21	3303	c.3138C>T	c.(3136-3138)caC>caT	p.H1046H	FLNB_ENST00000490882.1_Silent_p.H1046H|FLNB_ENST00000419752.2_Silent_p.H877H|FLNB_ENST00000493452.1_Silent_p.H877H|FLNB_ENST00000348383.5_Silent_p.H1046H|FLNB_ENST00000358537.3_Silent_p.H1046H|FLNB_ENST00000295956.4_Silent_p.H1046H|FLNB_ENST00000429972.2_Silent_p.H1046H			O75369	FLNB_HUMAN	filamin B, beta	1046					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGAAGGCCCACGGTCCCGGCC	0.542000													35	157					0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118166435	118166435	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:118166435C>T	ENST00000369448.3	+	2	1192	c.945C>T	c.(943-945)aaC>aaT	p.N315N		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	315										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GGGTGGTGAACGAGAGCACCG	0.527000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			45	62					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10299869	10299869	+	Splice_Site	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:10299869C>T	ENST00000403437.2	-	32	4623		c.e32+1		CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal						muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGAGGACTCACGTTGCAAGTT	0.463000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				33	14					0	0	1	0	0
TMCO6	55374	broad.mit.edu	37	5	140021557	140021557	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140021557G>A	ENST00000394671.3	+	4	518	c.417G>A	c.(415-417)gaG>gaA	p.E139E	TMCO6_ENST00000537378.1_Intron|NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Silent_p.E139E|TMCO6_ENST00000511410.1_3'UTR	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	139					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACTCCGAGCAGTCCACTG	0.617000													36	167					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46776725	46776725	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:46776725G>A	ENST00000262738.3	-	22	7215	c.7216C>T	c.(7216-7218)Cga>Tga	p.R2406*		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2406					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGCTTGGTTCGCTCCTCCACC	0.667000													23	102					0	0	1	0	0
KIF3A	11127	broad.mit.edu	37	5	132051569	132051569	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:132051569G>A	ENST00000378746.4	-	8	1227	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	KIF3A_ENST00000378735.1_Missense_Mutation_p.R337W|KIF3A_ENST00000403231.1_Missense_Mutation_p.R337W|AC004237.1_ENST00000431165.1_RNA	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	337	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	p.R337W(2)		endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGCATACCGTAATGTACTG	0.328000													7	22					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234371341	234371341	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:234371341G>A	ENST00000264057.2	+	26	3158	c.3146G>A	c.(3145-3147)cGc>cAc	p.R1049H	DGKD_ENST00000409813.3_Missense_Mutation_p.R1005H	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	1049					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGAGCTCTGCGCAGTGAGACG	0.597000													38	249					0	0	1	0	0
TMEM248	55069	broad.mit.edu	37	7	66415965	66415965	+	Missense_Mutation	SNP	C	C	T	rs143613938	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:66415965C>T	ENST00000341567.4	+	5	878	c.623C>T	c.(622-624)aCg>aTg	p.T208M		NM_017994.4	NP_060464.1			transmembrane protein 248																		GTTCCTGACACGTACAGCAAC	0.522000													60	277					0	0	1	0	0
SVILP1	0	broad.mit.edu	37	10	30984970	30984970	+	RNA	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:30984970G>A	ENST00000435645.1	+	0	258																											CAACAGCGCCGTGCCCTTCAA	0.542000													3	17					0	0	1	0	0
DNAJC11	55735	broad.mit.edu	37	1	6697342	6697342	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6697342G>A	ENST00000377577.5	-	14	1563	c.1440C>T	c.(1438-1440)agC>agT	p.S480S	DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000377573.5_Silent_p.S390S|DNAJC11_ENST00000294401.7_Silent_p.S428S|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000542246.1_Silent_p.S442S	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	480					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCTTCTCGCTCTTCCTGC	0.567000													68	143					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2306942	2306942	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:2306942C>T	ENST00000290974.2	-	8	1464	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A	ZFYVE28_ENST00000511071.1_Silent_p.A345A|ZFYVE28_ENST00000515312.1_Silent_p.A305A|RP11-478C1.7_ENST00000510632.1_RNA	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	375					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGCTGCCCTCCGCTCCTGGCC	0.667000													48	84					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46806347	46806347	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:46806347G>A	ENST00000262738.3	-	7	4880	c.4881C>T	c.(4879-4881)gaC>gaT	p.D1627D		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1627	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CATTTTTGCCGTCGACTGACA	0.632000													76	132					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44056971	44056971	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:44056971C>T	ENST00000359947.4	+	9	1618	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	PTPRF_ENST00000372413.3_Silent_p.S426S|PTPRF_ENST00000438120.1_Silent_p.S426S|PTPRF_ENST00000372414.3_Silent_p.S426S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	426	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCATGCTGAGCGCCAGCACCA	0.726000													6	6					0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64506852	64506852	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:64506852C>T	ENST00000377494.1	-	7	1715	c.793G>A	c.(793-795)Gtt>Att	p.V265I	RASGRP2_ENST00000394432.3_Missense_Mutation_p.V265I|RASGRP2_ENST00000377497.3_Missense_Mutation_p.V265I|RASGRP2_ENST00000354024.3_Missense_Mutation_p.V265I			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	265	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCAGGGCTAACGTGGCTGTGG	0.642000													11	66					0	0	1	0	0
C16orf58	64755	broad.mit.edu	37	16	31512031	31512031	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:31512031C>T	ENST00000327237.2	-	3	476	c.437G>A	c.(436-438)cGc>cAc	p.R146H	C16orf58_ENST00000567994.1_Missense_Mutation_p.R101H|C16orf58_ENST00000430477.2_Missense_Mutation_p.R4H|C16orf58_ENST00000570164.1_Missense_Mutation_p.R146H			Q96GQ5	CP058_HUMAN	chromosome 16 open reading frame 58	146						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						AAAGACGATGCGGCCCAGCAT	0.542000													14	54					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021390	5021390	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:5021390C>T	ENST00000382545.3	+	2	1953	c.846C>T	c.(844-846)ggC>ggT	p.G282G	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	282					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACCAGAAGGGCGAGCAGGCCA	0.517000													54	94					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22037987	22037987	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:22037987C>T	ENST00000306385.5	+	8	1738	c.1068C>T	c.(1066-1068)ccC>ccT	p.P356P	BMP1_ENST00000306349.8_Silent_p.P356P|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Silent_p.P356P|BMP1_ENST00000397814.3_Silent_p.P356P	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	356	CUB 1.				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)		CTGTCACACCCGGGGAGAAGG	0.612000													51	83					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62195519	62195519	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:62195519C>T	ENST00000467148.1	-	8	4725	c.4656G>A	c.(4654-4656)ctG>ctA	p.L1552L	HELZ2_ENST00000427522.2_Silent_p.L983L	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GCTGCCACCGCAGAGGCGTGA	0.647000													12	35					0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40774426	40774426	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:40774426G>A	ENST00000602553.1	-	5	1143	c.849C>T	c.(847-849)acC>acT	p.T283T	ZNF658_ENST00000441795.1_Silent_p.T281T|ZNF658_ENST00000377626.3_Silent_p.T283T			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATTCAACAGCGGTGGTTTTGT	0.383000													8	185					0	0	1	0	0
SFR1	119392	broad.mit.edu	37	10	105883598	105883598	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105883598G>A	ENST00000336358.5	+	2	967	c.448G>A	c.(448-450)Gca>Aca	p.A150T	SFR1_ENST00000369729.3_Missense_Mutation_p.A75T|SFR1_ENST00000369727.3_Missense_Mutation_p.A88T			Q86XK3	SFR1_HUMAN	SWI5-dependent recombination repair 1	88					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										AGAGAAACCAGCATCTTCCAC	0.299000													8	79					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30003072	30003072	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:30003072C>T	ENST00000346128.6	-	24	4809	c.4335G>A	c.(4333-4335)gcG>gcA	p.A1445A	TJP1_ENST00000400011.2_Silent_p.A1369A|TJP1_ENST00000545208.2_Silent_p.A1365A|TJP1_ENST00000356107.6_Silent_p.A1445A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1445					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGTGGAGAGACGCGCTGGTGA	0.498000													56	256					0	0	1	0	0
KLRC2	3822	broad.mit.edu	37	12	10584712	10584712	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:10584712T>C	ENST00000381902.2	-	5	583	c.577A>G	c.(577-579)Aaa>Gaa	p.K193E	NKG2-E_ENST00000539033.1_Intron|KLRC2_ENST00000536833.2_Missense_Mutation_p.K134E|KLRC2_ENST00000381901.1_Missense_Mutation_p.K193E	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	193	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TACTTATGTTTGAAAGCCAAA	0.313000													12	51					0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62397318	62397318	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:62397318G>A	ENST00000346178.4	-	15	1786	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W	GANAB_ENST00000356638.3_Missense_Mutation_p.R569W|GANAB_ENST00000540933.1_Missense_Mutation_p.R472W|GANAB_ENST00000534779.1_Missense_Mutation_p.R477W	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	569					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TGCACATCCCGGTGCTCCCAG	0.522000													5	120					0	0	1	0	0
WBP7	0	broad.mit.edu	37	19	36216664	36216664	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:36216664C>T	ENST00000420124.1	+	13	3830	c.3830C>T	c.(3829-3831)cCg>cTg	p.P1277L	WBP7_ENST00000222270.7_Missense_Mutation_p.P1277L|KMT2B_ENST00000607650.1_RNA																							GCATACCACCCGGCCTGTCTG	0.602000													4	12					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	59					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119029628	119029628	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:119029628G>A	ENST00000307417.3	+	12	1790	c.1426G>A	c.(1426-1428)Gtg>Atg	p.V476M	ABCG4_ENST00000531739.1_Missense_Mutation_p.V476M|ABCG4_ENST00000449422.2_Missense_Mutation_p.V476M	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	476	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CATGGCTGACGTGCCCTTTCA	0.542000													47	136					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85403041	85403041	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:85403041G>A	ENST00000258888.5	+	8	4773	c.4606G>A	c.(4606-4608)Gtg>Atg	p.V1536M		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1536	Ig-like 2.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTTGGCCATCGTGCAGGCCTC	0.657000													36	42					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37659354	37659354	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:37659354C>T	ENST00000252011.3	+	20	1924	c.1891C>T	c.(1891-1893)Cgt>Tgt	p.R631C	DHX35_ENST00000373323.4_Missense_Mutation_p.R600C|DHX35_ENST00000373325.2_Intron	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	631						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AAGGACCATCCGTGATGACCA	0.438000													40	100					0	0	1	0	0
DARS2	55157	broad.mit.edu	37	1	173826739	173826739	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:173826739G>A	ENST00000361951.4	+	17	2561	c.1834G>A	c.(1834-1836)Gac>Aac	p.D612N	DARS2_ENST00000239457.5_Missense_Mutation_p.D157N|DARS2_ENST00000471476.1_3'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	612					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	CCGGGGACATGACCTCATGAG	0.483000													31	122					0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72130788	72130788	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:72130788C>T	ENST00000268482.3	+	3	900	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	131					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GTTTTGGGAACGCAGTCGGCA	0.547000													148	154					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50265270	50265270	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:50265270C>T	ENST00000246801.3	-	2	472	c.390G>A	c.(388-390)acG>acA	p.T130T		NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	130							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCAGGATTTCCGTGATGTCTG	0.622000													9	111					0	0	1	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41620136	41620136	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:41620136G>A	ENST00000216237.5	+	9	1213	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	352					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCGGGGGTCGCCTACGGCTC	0.607000													45	88					0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10790547	10790547	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:10790547C>T	ENST00000449870.1	+	8	1120	c.803C>T	c.(802-804)gCt>gTt	p.A268V	ILF3_ENST00000589998.1_Missense_Mutation_p.A268V|ILF3_ENST00000250241.8_Missense_Mutation_p.A268V|ILF3_ENST00000420083.1_Missense_Mutation_p.A268V|ILF3_ENST00000592763.1_Missense_Mutation_p.A268V|ILF3_ENST00000588657.1_Missense_Mutation_p.A268V|ILF3_ENST00000590261.1_Missense_Mutation_p.A268V|ILF3_ENST00000318511.3_Missense_Mutation_p.A268V|ILF3_ENST00000407004.3_Missense_Mutation_p.A268V	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	268	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCGATGGGTGCTGGCGAGGCC	0.612000													4	89					0	0	1	0	0
TDG	6996	broad.mit.edu	37	12	104376688	104376688	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:104376688C>T	ENST00000392872.3	+	5	824	c.590C>T	c.(589-591)aCg>aTg	p.T197M	TDG_ENST00000544861.1_Missense_Mutation_p.T54M|TDG_ENST00000542036.1_Missense_Mutation_p.R21C|TDG_ENST00000266775.9_Missense_Mutation_p.T193M	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	197					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GAAAGGACCACGCCCGGCAGC	0.463000								Base excision repair (BER), DNA glycosylases					63	118					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73471784	73471784	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:73471784C>T	ENST00000358929.4	+	22	1521	c.1430C>T	c.(1429-1431)aCg>aTg	p.T477M	ELN_ENST00000357036.5_Intron|ELN_ENST00000380575.4_Intron|ELN_ENST00000320399.6_Intron|ELN_ENST00000380576.5_Intron|ELN_ENST00000458204.1_Intron|ELN_ENST00000445912.1_Intron|ELN_ENST00000252034.7_Intron|ELN_ENST00000320492.7_Intron|ELN_ENST00000429192.1_Intron|ELN_ENST00000414324.1_Intron|ELN_ENST00000380562.4_Intron|ELN_ENST00000380553.4_Intron|ELN_ENST00000380584.4_Intron			P15502	ELN_HUMAN	elastin	477	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GTGCCGGGCACGGGAGGAGTG	0.617000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						10	31					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43230535	43230535	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:43230535C>T	ENST00000422911.1	-	22	2899	c.2798G>A	c.(2797-2799)cGa>cAa	p.R933Q	PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000447207.2_Missense_Mutation_p.R876Q|PRDM15_ENST00000398548.1_Missense_Mutation_p.R913Q|PRDM15_ENST00000538201.1_Missense_Mutation_p.R896Q|PRDM15_ENST00000269844.3_Missense_Mutation_p.R1242Q			P57071	PRD15_HUMAN	PR domain containing 15	1242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCGCATGTGTCGGCTCATGGA	0.682000													29	27					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20368562	20368562	+	RNA	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:20368562G>A	ENST00000593655.1	-	0	199																											GGTGGTGTGCGACAATGACAC	0.552000													27	29					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26700618	26700618	+	Splice_Site	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:26700618C>T	ENST00000272371.2	-	19	2341		c.e19-1		OTOF_ENST00000403946.3_Splice_Site|OTOF_ENST00000339598.3_Splice_Site|OTOF_ENST00000338581.6_Splice_Site|OTOF_ENST00000402415.3_Silent_p.Q48Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin						cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTTCTTCCTGTGAATCAG	0.607000													23	42					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47916995	47916995	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:47916995G>A	ENST00000318711.7	+	4	561	c.378G>A	c.(376-378)tcG>tcA	p.S126S	DIP2A_ENST00000427143.2_Silent_p.S62S|DIP2A_ENST00000435722.3_Silent_p.S126S|DIP2A_ENST00000457905.3_Silent_p.S126S|DIP2A_ENST00000417564.2_Silent_p.S126S|DIP2A_ENST00000466639.1_Silent_p.S126S|DIP2A_ENST00000400274.1_Silent_p.S126S	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	126					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TTGTGCATTCGTCTGTGGAAA	0.453000													17	18					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141724872	141724872	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:141724872C>T	ENST00000475668.2	+	8	959	c.905C>T	c.(904-906)gCg>gTg	p.A302V	MGAM_ENST00000549489.2_Missense_Mutation_p.A302V			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	302	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGTATGGTGCGCAGACATTC	0.398000													19	44					0	0	1	0	0
CCDC41	51134	broad.mit.edu	37	12	94769688	94769688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:94769688G>A	ENST00000397809.5	-	8	1456	c.907C>T	c.(907-909)Cga>Tga	p.R303*	CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000397807.2_Nonsense_Mutation_p.R270*|CCDC41_ENST00000547575.1_Nonsense_Mutation_p.R303*|CCDC41_ENST00000339839.5_Nonsense_Mutation_p.R303*	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	295										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TTTATTTCTCGTTCAGCTTTA	0.259000													5	18					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123253597	123253597	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123253597G>A	ENST00000349780.4	-	13	1649	c.1470C>T	c.(1468-1470)gaC>gaT	p.D490D	CDK5RAP2_ENST00000360190.4_Silent_p.D490D|CDK5RAP2_ENST00000359309.3_Silent_p.D490D|CDK5RAP2_ENST00000360822.3_Silent_p.D490D	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	490					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GAAGCAACACGTCCTTCTGAT	0.294000													17	30					0	0	1	0	0
SLC6A10P	0	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													3	30					0	0	1	0	0
CDT1	81620	broad.mit.edu	37	16	88873762	88873762	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:88873762G>A	ENST00000301019.4	+	9	1968	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	450					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CGGCTGCAGCGCTTAGAACGG	0.657000													34	41					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123858806	123858806	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123858806C>T	ENST00000373855.1	+	6	846	c.586C>T	c.(586-588)Cga>Tga	p.R196*	CNTRL_ENST00000373865.2_Nonsense_Mutation_p.R196*|CNTRL_ENST00000238341.5_Nonsense_Mutation_p.R196*			Q7Z7A1	CNTRL_HUMAN	centriolin	196					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAAATCTTTGCGAGTCCTCAA	0.303000													40	64					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12186611	12186611	+	Missense_Mutation	SNP	A	A	G	rs7259684	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:12186611A>G	ENST00000439326.3	+	4	851	c.676A>G	c.(676-678)Aaa>Gaa	p.K226E	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	226			K -> E (in dbSNP:rs7259684).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAAACCATATAAATGTAAACA	0.373000													3	24					0	0	1	0	0
WHAMMP3	0	broad.mit.edu	37	15	23191911	23191911	+	RNA	SNP	C	C	T	rs147199465	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:23191911C>T	ENST00000400153.2	-	0	1785					NR_003521.1																						TGATTTTCTTCGCACTGATCC	0.408000													5	71					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78943040	78943040	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:78943040C>T	ENST00000545128.1	+	32	4912	c.4374C>T	c.(4372-4374)tcC>tcT	p.S1458S		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	676					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.S1458S(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCTCACCCTCCGAGTACTGGG	0.592000													13	372					0	0	1	0	0
STK25	10494	broad.mit.edu	37	2	242437037	242437037	+	Silent	SNP	G	G	A	rs67879108		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:242437037G>A	ENST00000316586.4	-	10	1447	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	STK25_ENST00000405883.3_Silent_p.F289F|STK25_ENST00000405585.1_Silent_p.F289F|STK25_ENST00000401869.1_Silent_p.F366F|STK25_ENST00000403346.3_Silent_p.F366F|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000535007.1_Silent_p.F272F|STK25_ENST00000543554.1_Silent_p.F272F	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN	serine/threonine kinase 25	366					response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TCACCTCTCCGAAGACGGGCC	0.657000													101	103					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65427138	65427138	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:65427138G>A	ENST00000519389.1	+	14	2734	c.2555G>A	c.(2554-2556)cGg>cAg	p.R852Q	HEPH_ENST00000336279.5_Missense_Mutation_p.R531Q|HEPH_ENST00000343002.2_Missense_Mutation_p.R798Q|HEPH_ENST00000419594.1_Missense_Mutation_p.R609Q|HEPH_ENST00000374727.3_Missense_Mutation_p.R801Q|HEPH_ENST00000441993.2_Missense_Mutation_p.R801Q			Q9BQS7	HEPH_HUMAN	hephaestin	798	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGGATCCCTCGGCCAAGGACT	0.478000													5	18					0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159802792	159802792	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:159802792G>A	ENST00000289707.5	+	3	643	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	SLAMF8_ENST00000368104.4_Missense_Mutation_p.R56Q|SLAMF8_ENST00000471286.1_3'UTR	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	165	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TATAGCTGGCGACGGGAGACA	0.542000													26	143					0	0	1	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202914187	202914187	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:202914187C>T	ENST00000340990.5	-	5	839	c.541G>A	c.(541-543)Gtg>Atg	p.V181M	ADIPOR1_ENST00000367254.3_Intron|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.V181M	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	181					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGGCAGAGCACTGCACCCAAA	0.448000													52	77					0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36122590	36122590	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:36122590G>A	ENST00000249044.2	+	3	475	c.475G>A	c.(475-477)Gca>Aca	p.A159T		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	159					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TTTGGCCCTAGCACCTGTGAC	0.547000													7	177					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927121	130927121	+	Missense_Mutation	SNP	G	G	A	rs147881182	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:130927121G>A	ENST00000261655.4	-	8	888	c.725C>T	c.(724-726)aCg>aTg	p.T242M	RIMBP2_ENST00000536002.1_Missense_Mutation_p.T150M|RIMBP2_ENST00000535703.1_Missense_Mutation_p.T150M	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	242						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GTTCCCCAGCGTGCTTGCCAA	0.592000													30	118					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154862918	154862918	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:154862918C>T	ENST00000287907.2	+	1	885	c.309C>T	c.(307-309)tcC>tcT	p.S103S	AC093726.4_ENST00000395731.2_Silent_p.P32P|AC093726.4_ENST00000543018.1_Silent_p.P32P|AC093726.4_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	103						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		ACGAGCTGTCCGGGCGCCGCT	0.677000													41	58					0	0	1	0	0
FAM167A	83648	broad.mit.edu	37	8	11301958	11301958	+	Translation_Start_Site	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:11301958C>T	ENST00000284486.4	-	0	501				FAM167A_ENST00000534308.1_De_novo_Start_OutOfFrame|FAM167A_ENST00000528897.1_De_novo_Start_OutOfFrame	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A											breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						TGCGAGGGCACGGGGGGCGCA	0.682000													24	84					0	0	1	0	0
KHNYN	23351	broad.mit.edu	37	14	24901644	24901644	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:24901644G>A	ENST00000251343.5	+	3	1316	c.1177G>A	c.(1177-1179)Gca>Aca	p.A393T	KHNYN_ENST00000556842.1_Missense_Mutation_p.A393T|KHNYN_ENST00000553935.1_Missense_Mutation_p.A393T			O15037	KHNYN_HUMAN	KH and NYN domain containing	393										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GCAGGGCATGGCACGGGGTCG	0.667000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	51					0	0	1	0	0
TRIM63	84676	broad.mit.edu	37	1	26387782	26387782	+	Missense_Mutation	SNP	C	C	T	rs139426966		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:26387782C>T	ENST00000374272.3	-	3	514	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	126	Interaction with TTN.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTCATCTTCGTGCTCCTTG	0.582000													21	77					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7618615	7618615	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:7618615G>A	ENST00000256861.6	-	10	1857	c.1779C>T	c.(1777-1779)gaC>gaT	p.D593D	ITIH5_ENST00000397146.2_Silent_p.D593D|ITIH5_ENST00000397145.2_Silent_p.D593D|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Silent_p.D379D|ITIH5_ENST00000446830.2_Silent_p.D375D	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	593					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CCGGTTCATCGTCACTTTGCA	0.647000													4	82					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129566505	129566505	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:129566505G>A	ENST00000422113.2	-	7	2048	c.1722C>T	c.(1720-1722)caC>caT	p.H574H	TMEM132D_ENST00000389441.4_Silent_p.H112H	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	574						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCACCATGGCGTGCTGGTACT	0.657000													46	79					0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	91993634	91993634	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:91993634G>A	ENST00000450295.1	-	16	3350	c.2574C>T	c.(2572-2574)gaC>gaT	p.D858D	SEMA4D_ENST00000422704.2_Silent_p.D858D|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000438547.2_Silent_p.D858D|SEMA4D_ENST00000356444.2_Silent_p.D858D|SEMA4D_ENST00000420987.1_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	858					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTCCATCTGCGTCTGAGTCAG	0.582000													30	42					0	0	1	0	0
PELI3	246330	broad.mit.edu	37	11	66243521	66243521	+	Silent	SNP	C	C	A	rs139368303		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66243521C>A	ENST00000349459.6	+	7	1505	c.1221C>A	c.(1219-1221)gcC>gcA	p.A407A	CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000320740.7_Silent_p.A431A	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	431						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GCTACTGGGCCCAGACACCAC	0.672000													10	18					2.17888e-05	2.20124e-05	1	1	0
REV1	51455	broad.mit.edu	37	2	100022891	100022891	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:100022891C>T	ENST00000258428.3	-	16	2738	c.2510G>A	c.(2509-2511)cGc>cAc	p.R837H	REV1_ENST00000393445.3_Missense_Mutation_p.R836H|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	837					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AACTGATGGGCGACTGGGACA	0.453000								Direct reversal of damage					22	41					0	0	1	0	0
RAB7L1	8934	broad.mit.edu	37	1	205740772	205740772	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:205740772C>T	ENST00000367139.3	-	4	509	c.206G>A	c.(205-207)cGc>cAc	p.R69H	RAB7L1_ENST00000446390.2_Missense_Mutation_p.R45H|RAB7L1_ENST00000414729.1_Missense_Mutation_p.R69H|RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000235932.4_Missense_Mutation_p.R69H	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN	RAB7, member RAS oncogene family-like 1	69					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGAGGTGAAGCGCTCCTGCCC	0.517000													62	91					0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72133711	72133711	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:72133711C>T	ENST00000268482.3	+	8	1550	c.1041C>T	c.(1039-1041)taC>taT	p.Y347Y	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	347					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CCGAGGACTACGTGAGGAGGC	0.577000											OREG0023926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	19					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109801232	109801232	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:109801232C>T	ENST00000271332.3	+	2	3550	c.3489C>T	c.(3487-3489)caC>caT	p.H1163H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1163					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CACCGGACCACGTGGTGGTCT	0.716000													7	13					0	0	1	0	0
DGKQ	1609	broad.mit.edu	37	4	960969	960969	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:960969G>A	ENST00000273814.3	-	9	1241	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	390					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCAGAGCCCGGATGACCCAG	0.711000													3	19					0	0	1	0	0
PIGB	9488	broad.mit.edu	37	15	55647590	55647590	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:55647590G>A	ENST00000164305.5	+	12	1916	c.1625G>A	c.(1624-1626)cGg>cAg	p.R542Q	CCPG1_ENST00000442196.3_3'UTR|CCPG1_ENST00000310958.6_3'UTR|PIGB_ENST00000539642.1_Missense_Mutation_p.R347Q|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	542					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		GTCTATGAACGGAAGTTAAAA	0.358000													11	98					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86465050	86465050	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:86465050C>T	ENST00000297814.2	-	16	3663	c.3520G>A	c.(3520-3522)Gaa>Aaa	p.E1174K	RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.E1077K|RP11-575L7.4_ENST00000590813.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.E1108K	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1174					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATCTTTTGTTCGTGTTCCTTT	0.423000													38	161					0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68716104	68716104	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:68716104G>A	ENST00000325631.5	+	2	966	c.892G>A	c.(892-894)Gtt>Att	p.V298I	MARVELD2_ENST00000413223.2_Intron	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	298	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TGGAATTAACGTTGCCTTGTT	0.423000													56	112					0	0	1	0	0
GPR26	2849	broad.mit.edu	37	10	125426287	125426287	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:125426287G>A	ENST00000284674.1	+	1	417	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	122					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCGCCTCCGCGACGCGGCGCT	0.701000													8	16					0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31522443	31522443	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:31522443C>T	ENST00000331075.5	+	3	1402	c.1353C>T	c.(1351-1353)gaC>gaT	p.D451D	INPP5J_ENST00000404390.3_Silent_p.D83D|INPP5J_ENST00000412277.2_Silent_p.D384D|INPP5J_ENST00000400294.2_Silent_p.D84D|INPP5J_ENST00000405300.1_Silent_p.D84D			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	451	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GCGGTGGTGACGACAGCGACG	0.657000													109	191					0	0	1	0	0
MFNG	4242	broad.mit.edu	37	22	37882079	37882079	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:37882079G>A	ENST00000356998.3	-	1	360	c.137C>T	c.(136-138)cCg>cTg	p.P46L	MFNG_ENST00000416983.3_Missense_Mutation_p.P46L	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	46					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					AGGGGGCCCCGGGTTCGGCTG	0.632000													22	111					0	0	1	0	0
HNRNPH1	3187	broad.mit.edu	37	5	179043155	179043155	+	Silent	SNP	G	G	A	rs115293737	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:179043155G>A	ENST00000356731.5	-	11	2807	c.1272C>T	c.(1270-1272)taC>taT	p.Y424Y	HNRNPH1_ENST00000393432.4_Silent_p.Y424Y|HNRNPH1_ENST00000511300.2_Silent_p.Y134Y|HNRNPH1_ENST00000442819.2_Silent_p.Y424Y|HNRNPH1_ENST00000510411.1_Silent_p.Y404Y|HNRNPH1_ENST00000329433.6_Silent_p.Y424Y			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	424	2 X 16 AA Gly-rich approximate repeats.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TCTGGCCACCGTAGCCGCCTC	0.473000													38	229					0	0	1	0	0
SPIB	6689	broad.mit.edu	37	19	50926144	50926144	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:50926144G>A	ENST00000595883.1	+	4	214	c.189G>A	c.(187-189)ccG>ccA	p.P63P	SPIB_ENST00000439922.2_Intron|SPIB_ENST00000597855.1_Silent_p.P63P|SPIB_ENST00000270632.7_Silent_p.P63P|SPIB_ENST00000596074.1_Intron	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	63					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCTTCGACCCGGCAGCAGCCG	0.662000													50	136					0	0	1	0	0
CTD-3074O7.11	0	broad.mit.edu	37	11	66297334	66297334	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66297334C>T	ENST00000419755.3	+	14	1573	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000318312.7_Missense_Mutation_p.R462C|BBS1_ENST00000455748.2_Missense_Mutation_p.R365C|BBS1_ENST00000393994.2_Missense_Mutation_p.R333C																							GCTGCGCCTACGTGCTGCCCG	0.677000													30	44					0	0	1	0	0
SGSM2	9905	broad.mit.edu	37	17	2265510	2265510	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:2265510C>T	ENST00000268989.3	+	4	581	c.404C>T	c.(403-405)gCg>gTg	p.A135V	SGSM2_ENST00000426855.2_Missense_Mutation_p.A135V|SGSM2_ENST00000574563.1_Missense_Mutation_p.A135V|SGSM2_ENST00000574650.1_3'UTR	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	135	RUN.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GTACGCACGGCGCTCATCGAG	0.637000													46	149					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144999421	144999421	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144999421C>T	ENST00000322810.4	-	31	5256	c.5087G>A	c.(5086-5088)cGa>cAa	p.R1696Q	PLEC_ENST00000354958.2_Missense_Mutation_p.R1537Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R1582Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R1527Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R1545Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R1559Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R1559Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R1586Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R1563Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1696	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGCCGCGCTCGCTCCACCTC	0.741000													4	15					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49699985	49699985	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:49699985C>T	ENST00000296452.4	+	6	10821	c.10707C>T	c.(10705-10707)tcC>tcT	p.S3569S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3569					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCGTGGTTTCCGACAGCGAAG	0.597000													71	25					0	0	1	0	0
PALM	5064	broad.mit.edu	37	19	746408	746408	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:746408C>T	ENST00000264560.7	+	8	820	c.626C>T	c.(625-627)gCg>gTg	p.A209V	PALM_ENST00000338448.5_Missense_Mutation_p.A253V|PALM_ENST00000606643.1_3'UTR	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	253					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		ACGGCCGGGGCGGCAGAGACC	0.726000													18	35					0	0	1	0	0
PACRGL	133015	broad.mit.edu	37	4	20715162	20715162	+	Splice_Site	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:20715162C>T	ENST00000360916.5	+	7	1000	c.609_splice	c.e7+1	p.S203_splice	PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000444671.2_Splice_Site_p.S105_splice|PACRGL_ENST00000503585.1_Splice_Site_p.S203_splice|PACRGL_ENST00000513459.1_Splice_Site_p.S150_splice|PACRGL_ENST00000507634.1_Splice_Site_p.S203_splice|PACRGL_ENST00000295290.8_Splice_Site_p.S203_splice|PACRGL_ENST00000538990.1_Splice_Site_p.S105_splice|PACRGL_ENST00000502374.1_Splice_Site_p.S150_splice	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	230							binding			endometrium(2)|lung(7)|prostate(1)	10						TGCTTACAAGCGTAAGTACTG	0.373000													34	53					0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62144066	62144066	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:62144066C>T	ENST00000433197.2	-	8	902	c.807G>A	c.(805-807)ccG>ccA	p.P269P		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	269					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CCTTGGGGAACGGGTACTTCC	0.592000													33	5					0	0	1	0	0
PRCP	5547	broad.mit.edu	37	11	82550376	82550376	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:82550376G>A	ENST00000313010.3	-	7	1207	c.1013C>T	c.(1012-1014)tCg>tTg	p.S338L	PRCP_ENST00000393399.2_Missense_Mutation_p.S359L|PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000535099.1_Missense_Mutation_p.S233L	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	338					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CACCTGGCCCGAATAATTGTA	0.403000													27	103					0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170626760	170626760	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:170626760G>T	ENST00000476287.1	+	2	390	c.282G>T	c.(280-282)gaG>gaT	p.E94D	FAM120B_ENST00000540480.1_Missense_Mutation_p.E106D|FAM120B_ENST00000537664.1_Missense_Mutation_p.E117D|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	94					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GCATGGTGGAGCAGGATAAGA	0.443000													7	93					0.0293803	0.0294659	1	1	0
GBF1	8729	broad.mit.edu	37	10	104141973	104141973	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:104141973C>T	ENST00000369983.3	+	40	5720	c.5460C>T	c.(5458-5460)ggC>ggT	p.G1820G		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1820	Pro-rich.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGCAGGTGGGCGTGCCACCTA	0.682000													50	158					0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203311549	203311549	+	Silent	SNP	G	G	A	rs142981560	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:203311549G>A	ENST00000354955.4	-	3	1516	c.1053C>T	c.(1051-1053)gaC>gaT	p.D351D	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	351					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TCTCGTTCCCGTCCAGGCGCA	0.642000											OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	50					0	0	1	0	0
ZFP41	286128	broad.mit.edu	37	8	144332526	144332526	+	Silent	SNP	C	C	T	rs149671213		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144332526C>T	ENST00000330701.4	+	2	882	c.513C>T	c.(511-513)taC>taT	p.Y171Y	ZFP41_ENST00000522452.1_Silent_p.Y171Y|ZFP41_ENST00000520584.1_Silent_p.Y171Y	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	171					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AGAAGCCCTACGAATGCACGC	0.592000													40	114					0	0	1	0	0
APOE	348	broad.mit.edu	37	19	45411904	45411904	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:45411904G>A	ENST00000252486.4	+	4	462	c.351G>A	c.(349-351)gcG>gcA	p.A117A		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	117	8 X 22 AA approximate tandem repeats.		A -> T (in isoform E3*; dbSNP:rs28931577).		anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGCTGCAGGCGGCGCAGGCCC	0.682000													3	13					0	0	1	0	0
MRGPRD	116512	broad.mit.edu	37	11	68748335	68748335	+	Missense_Mutation	SNP	C	C	T	rs144924033		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:68748335C>T	ENST00000309106.3	-	1	120	c.121G>A	c.(121-123)Ggg>Agg	p.G41R		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	41						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTGCCATCCCGCACAGGCAG	0.597000													53	53					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170022532	170022532	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:170022532G>A	ENST00000263816.3	-	62	11953	c.11668C>T	c.(11668-11670)Cgg>Tgg	p.R3890W		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3890	LDL-receptor class A 35.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTGTCACACCGGAAACGGTTT	0.388000													88	104					0	0	1	0	0
NDRG2	57447	broad.mit.edu	37	14	21486616	21486616	+	Splice_Site	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:21486616C>T	ENST00000556147.1	-	13	1801	c.861_splice	c.e13+1	p.K287_splice	NDRG2_ENST00000298687.5_Splice_Site_p.K287_splice|NDRG2_ENST00000553503.1_Splice_Site_p.K273_splice|NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000298684.5_Splice_Site_p.K244_splice|NDRG2_ENST00000403829.3_Splice_Site_p.K283_splice|NDRG2_ENST00000397858.1_Splice_Site_p.K287_splice|NDRG2_ENST00000350792.3_Splice_Site_p.K273_splice|NDRG2_ENST00000397855.3_Splice_Site_p.K244_splice|NDRG2_ENST00000554143.1_Splice_Site_p.K273_splice|NDRG2_ENST00000397851.2_Splice_Site_p.K287_splice|NDRG2_ENST00000397856.3_Intron|NDRG2_ENST00000397847.2_Splice_Site_p.K276_splice|NDRG2_ENST00000360463.3_Splice_Site_p.K273_splice|NDRG2_ENST00000397853.3_Splice_Site_p.K287_splice|NDRG2_ENST00000554104.1_Splice_Site_p.K200_splice|NDRG2_ENST00000555158.1_Splice_Site_p.K273_splice			Q9UN36	NDRG2_HUMAN	NDRG family member 2	287					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GGTTACTGACCTTGAGGAACG	0.572000													5	37					0	0	1	0	0
PTPN3	0	broad.mit.edu	37	9	112166752	112166752	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:112166752G>A	ENST00000412145.1	-	14	4089	c.1536C>T	c.(1534-1536)agC>agT	p.S512S	PTPN3_ENST00000262539.3_Silent_p.S489S|PTPN3_ENST00000394827.3_Silent_p.S111S|PTPN3_ENST00000446349.1_Silent_p.S467S|PTPN3_ENST00000374541.2_Silent_p.S643S	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	643	PDZ.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCACCGTCCCGCTTTCGAGGC	0.572000													48	73					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42912409	42912409	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:42912409G>A	ENST00000244289.4	-	3	1761	c.1485C>T	c.(1483-1485)caC>caT	p.H495H	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	495					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TGCGTTTGTAGTGCTCCCCGA	0.627000													45	211					0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150967084	150967084	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:150967084G>A	ENST00000368947.4	+	13	1360	c.884G>A	c.(883-885)cGc>cAc	p.R295H		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	295					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTCCTGATTCGCATCCTTATC	0.468000													117	201					0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85331490	85331490	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:85331490C>T	ENST00000440886.1	-	1	352	c.314G>A	c.(313-315)cGt>cAt	p.R105H	LPAR3_ENST00000370611.3_Missense_Mutation_p.R105H|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	105					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AAGCCCCTGACGGAGAAACCA	0.502000													155	211					0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23519885	23519885	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:23519885G>A	ENST00000374619.1	-	1	1337	c.828C>T	c.(826-828)caC>caT	p.H276H	HTR1D_ENST00000314113.3_Silent_p.H276H	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	276					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGATTTTCACGTGGTTGAAAA	0.567000													83	103					0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15729056	15729056	+	RNA	SNP	C	C	G	rs714772	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:15729056C>G	ENST00000441682.2	+	0	407							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TACTCAGCCCCTTCCTTCCTG	0.537000													3	43					0	0	1	0	0
SBK2	646643	broad.mit.edu	37	19	56041301	56041301	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:56041301C>T	ENST00000413299.1	-	4	883	c.846G>A	c.(844-846)gcG>gcA	p.A282A	SBK2_ENST00000344158.3_Silent_p.A282A	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	282	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCTGGCCCGACGCCTGCCAGA	0.731000													4	6					0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99696063	99696063	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:99696063G>A	ENST00000370597.3	-	3	640	c.285C>T	c.(283-285)atC>atT	p.I95I	CRTAC1_ENST00000370591.2_Silent_p.I95I|CRTAC1_ENST00000298819.4_Silent_p.I95I	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	95						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CATCGACCGCGATGTTCACCA	0.667000													31	40					0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76649192	76649192	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:76649192G>A	ENST00000264917.5	+	10	1173	c.1128G>A	c.(1126-1128)tcG>tcA	p.S376S	PDE8B_ENST00000342343.4_Silent_p.S356S|PDE8B_ENST00000340978.3_Silent_p.S329S|PDE8B_ENST00000333194.4_Silent_p.S376S|PDE8B_ENST00000346042.3_Intron	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	376					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		ATTTTGTCTCGCTCAAGAAAC	0.368000													24	43					0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043766	71043766	+	Silent	SNP	G	G	A	rs142908853		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:71043766G>A	ENST00000272367.2	-	4	823	c.747C>T	c.(745-747)aaC>aaT	p.N249N	CLEC4F_ENST00000426626.1_Silent_p.N249N	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	249					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CAGCATTAGCGTTCTTTAAAC	0.418000													31	88					0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17489628	17489628	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:17489628G>A	ENST00000377873.3	-	5	680	c.641C>T	c.(640-642)aCg>aTg	p.T214M	BFSP1_ENST00000377868.2_Missense_Mutation_p.T89M|BFSP1_ENST00000544874.1_Missense_Mutation_p.T75M|BFSP1_ENST00000536626.1_Missense_Mutation_p.T75M	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	214	Coil 2.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTCCCGCTCCGTCAGGAGCTT	0.647000													11	17					0	0	1	0	0
TRIM54	57159	broad.mit.edu	37	2	27529116	27529116	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:27529116G>A	ENST00000296098.4	+	8	1298	c.1028G>A	c.(1027-1029)cGg>cAg	p.R343Q	TRIM54_ENST00000380075.2_Missense_Mutation_p.R301Q	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	301					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGCAGGGCGGCCGGAGCCA	0.642000													51	111					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55050400	55050400	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:55050400G>A	ENST00000371316.3	+	2	188	c.106G>A	c.(106-108)Gca>Aca	p.A36T	ACOT11_ENST00000343744.2_Missense_Mutation_p.A36T|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	36	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	p.A36T(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CAGTGCCATGGCAGACGGCGA	0.647000													5	130					0	0	1	0	0
NTN3	4917	broad.mit.edu	37	16	2522180	2522180	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2522180C>T	ENST00000293973.1	+	1	681	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	160	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GGACTATGGCCGTCTGCCTGC	0.697000													18	44					0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19960526	19960526	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:19960526G>A	ENST00000263207.3	-	15	2763	c.2472C>T	c.(2470-2472)caC>caT	p.H824H	ARVCF_ENST00000406522.1_Silent_p.H755H|ARVCF_ENST00000406259.1_Silent_p.H818H|ARVCF_ENST00000401994.1_Silent_p.H761H|ARVCF_ENST00000344269.3_Silent_p.H761H	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	824					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TCTGCAGCACGTGTGACGCCG	0.672000													49	164					0	0	1	0	0
TUBG1	7283	broad.mit.edu	37	17	40766567	40766567	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:40766567G>A	ENST00000251413.3	+	10	1112	c.1050G>A	c.(1048-1050)ccG>ccA	p.P350P		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	350					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		ACTTCATCCCGTGGGGCCCCG	0.652000													108	25					0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596148	58596148	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:58596148C>T	ENST00000240727.6	-	7	1836	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	ZSCAN18_ENST00000421612.2_Silent_p.P343P|ZSCAN18_ENST00000600404.1_Silent_p.P535P|ZSCAN18_ENST00000601144.1_Silent_p.P479P	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	479					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGCGGGTGGACGGTTGGGGGC	0.726000													5	12					0	0	1	0	0
AP5Z1	9907	broad.mit.edu	37	7	4824642	4824642	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:4824642C>T	ENST00000348624.4	+	7	988	c.894C>T	c.(892-894)ttC>ttT	p.F298F	AP5Z1_ENST00000401897.1_Silent_p.F298F	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	298					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										AGGTGGCCTTCGAGTACTGCC	0.682000													44	63					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179604439	179604439	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179604439C>A	ENST00000589042.1	-	48	13745	c.13521G>T	c.(13519-13521)atG>atT	p.M4507I	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M4144I|TTN_ENST00000342175.6_Missense_Mutation_p.M4336I|TTN_ENST00000359218.5_Missense_Mutation_p.M4269I|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M4190I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4190	Ig-like 25.						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)			AAAAAGAATCCATTTCTTCTT	0.388000													31	212					2.85442e-18	2.93536e-18	1	1	0
MAN2A2	4122	broad.mit.edu	37	15	91455396	91455396	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:91455396G>A	ENST00000360468.3	+	14	2251	c.2233G>A	c.(2233-2235)Gtc>Atc	p.V745I	MAN2A2_ENST00000431652.2_Missense_Mutation_p.V253I|MAN2A2_ENST00000559717.1_Missense_Mutation_p.V745I	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	745					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCAGCTGTCCGTCAGCAGGCA	0.647000													45	170					0	0	1	0	0
GDI1	2664	broad.mit.edu	37	X	153670771	153670771	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:153670771G>A	ENST00000447750.2	+	10	1522	c.1187G>A	c.(1186-1188)aGc>aAc	p.S396N	GDI1_ENST00000465640.1_3'UTR	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	396					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTTGTGAGAGCCAGGTAAGC	0.612000													131	31					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2541236	2541236	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:2541236C>T	ENST00000288709.6	-	5	540	c.300G>A	c.(298-300)acG>acA	p.T100T	MMEL1_ENST00000502556.1_Silent_p.T109T|MMEL1_ENST00000378412.3_Silent_p.T109T	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	109					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|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;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CACACGGTTCCGTGGTCGGGT	0.602000													49	86					0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37038172	37038172	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:37038172A>C	ENST00000231790.2	+	2	395	c.179A>C	c.(178-180)cAg>cCg	p.Q60P	MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000435176.1_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	60					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AAGTTGATTCAGATCCAAGAC	0.413000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				51	11					0	0	1	0	0
LGALS4	3960	broad.mit.edu	37	19	39299582	39299582	+	Silent	SNP	G	G	A	rs140167180		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:39299582G>A	ENST00000307751.4	-	3	618	c.141C>T	c.(139-141)ttC>ttT	p.F47F	LGALS4_ENST00000597803.1_Intron	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	47	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CAAAGTTCACGAAGAACCTGG	0.642000													7	19					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909049	123909049	+	Silent	SNP	G	G	A	rs12291067	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:123909049G>A	ENST00000330487.5	-	1	668	c.660C>T	c.(658-660)atC>atT	p.I220I		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGGAACAGACGATGGACACAT	0.557000													31	106					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22166340	22166340	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:22166340C>T	ENST00000374695.3	-	72	9763	c.9684G>A	c.(9682-9684)acG>acA	p.T3228T		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3228	Ig-like C2-type 18.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCAAGGTGGCCGTGTGTCCAG	0.627000													84	102					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49687793	49687793	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:49687793G>A	ENST00000249601.4	-	4	633	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R119W|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.R23W|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.R23W|ARHGAP22_ENST00000374172.1_5'UTR|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R113W	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	113	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACCTTCTCCCGCTCCCCGGCA	0.672000													9	20					0	0	1	0	0
LPCAT2	54947	broad.mit.edu	37	16	55613052	55613052	+	Missense_Mutation	SNP	C	C	T	rs142090669	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:55613052C>T	ENST00000262134.5	+	13	1530	c.1346C>T	c.(1345-1347)aCg>aTg	p.T449M	LPCAT2_ENST00000565056.1_3'UTR	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	449	EF-hand 2.				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						GGCTACATAACGGAGGAAGAG	0.433000													19	131					0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15580456	15580456	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:15580456G>A	ENST00000292609.4	-	4	1757	c.1628C>T	c.(1627-1629)cCg>cTg	p.P543L	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.P543L			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	543					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGTGAAGTGCGGCCAGGTGCG	0.721000													12	13					0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113322007	113322007	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:113322007C>T	ENST00000263331.5	+	10	2257	c.1677C>T	c.(1675-1677)gaC>gaT	p.D559D	POLR1B_ENST00000417433.2_Silent_p.D503D|POLR1B_ENST00000537335.1_Silent_p.D348D|POLR1B_ENST00000409894.3_Intron|POLR1B_ENST00000541869.1_Silent_p.D597D	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	559					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TCCTGCTGGACGGTGTCATGG	0.502000													74	135					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139401406	139401406	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:139401406G>A	ENST00000277541.6	-	23	3738	c.3663C>T	c.(3661-3663)aaC>aaT	p.N1221N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1221	EGF-like 32; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGTCGTCCACGTTGATCTCAC	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			14	24					0	0	1	0	0
BTBD17	388419	broad.mit.edu	37	17	72353024	72353024	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:72353024G>A	ENST00000375366.3	-	3	1335	c.1209C>T	c.(1207-1209)gaC>gaT	p.D403D		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	403						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						CGCCCGCCGCGTCGCCGCCGC	0.771000													10	4					0	0	1	0	0
FGD3	89846	broad.mit.edu	37	9	95738979	95738979	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:95738979C>T	ENST00000375482.3	+	3	937	c.441C>T	c.(439-441)gcC>gcT	p.A147A	FGD3_ENST00000468206.1_3'UTR|FGD3_ENST00000416701.2_Silent_p.A147A|FGD3_ENST00000337352.6_Silent_p.A147A	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	147					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						ACAAGGATGCCGGCCTGGCCC	0.637000													13	34					0	0	1	0	0
SQRDL	58472	broad.mit.edu	37	15	45974846	45974846	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:45974846C>T	ENST00000260324.7	+	7	1421	c.1035C>T	c.(1033-1035)acC>acT	p.T345T	SQRDL_ENST00000568606.1_Silent_p.T345T	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	345							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CGTCAAAGACCGCTGCTGCAG	0.478000													51	76					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40043868	40043868	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:40043868G>A	ENST00000336649.4	+	11	1504	c.1504G>A	c.(1504-1506)Gga>Aga	p.G502R	CACNA1I_ENST00000407673.1_Intron|CACNA1I_ENST00000402142.3_Missense_Mutation_p.G502R|CACNA1I_ENST00000404898.1_Intron|CACNA1I_ENST00000400164.3_Intron|CACNA1I_ENST00000401624.1_Missense_Mutation_p.G502R			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	502					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	gaGACATCTCGGAAGCCGGCA	0.562000													29	66					0	0	1	0	0
ZNF143	7702	broad.mit.edu	37	11	9522711	9522711	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:9522711C>T	ENST00000396602.2	+	11	1160	c.1041C>T	c.(1039-1041)caC>caT	p.H347H	ZNF143_ENST00000299606.2_Silent_p.H319H|ZNF143_ENST00000530463.1_Silent_p.H346H|ZNF143_ENST00000396604.1_Silent_p.H346H|ZNF143_ENST00000396597.3_Silent_p.H316H	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	347					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GAAAAGTGCACGTTAGGACAC	0.433000													55	115					0	0	1	0	0
DEAF1	10522	broad.mit.edu	37	11	654033	654033	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:654033C>T	ENST00000382409.3	-	11	2006	c.1522G>A	c.(1522-1524)Ggc>Agc	p.G508S	DEAF1_ENST00000525904.1_5'UTR|DEAF1_ENST00000338675.6_Missense_Mutation_p.G433S	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	508					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GCCTCCCGGCCGCAGTTAACG	0.622000													12	53					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93489391	93489391	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:93489391T>C	ENST00000394196.4	+	12	2390	c.1322T>C	c.(1321-1323)aTt>aCt	p.I441T	CHD2_ENST00000536619.1_Missense_Mutation_p.I454T|CHD2_ENST00000557381.1_Missense_Mutation_p.I441T|CHD2_ENST00000420239.2_Missense_Mutation_p.I441T	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	441	Chromo 2.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CAGAATTGCATTGACAGCTTC	0.418000													49	67					0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104490932	104490932	+	Missense_Mutation	SNP	C	C	T	rs139118201	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:104490932C>T	ENST00000409874.4	+	25	2681	c.2633C>T	c.(2632-2634)aCg>aTg	p.T878M	TDRD9_ENST00000339063.5_Missense_Mutation_p.T878M	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	878					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CAGAAGCAGACGGTAGATCCT	0.343000													38	26					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123479976	123479976	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:123479976C>T	ENST00000280562.5	-	13	2219	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	PITPNM2_ENST00000392428.1_Missense_Mutation_p.E393K|PITPNM2_ENST00000542749.1_Missense_Mutation_p.E672K|PITPNM2_ENST00000320201.4_Missense_Mutation_p.E672K			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	672					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTATCCAGCTCGTAGGTGGAT	0.647000													27	124					0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75107689	75107689	+	Silent	SNP	C	C	T	rs144796715		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:75107689C>T	ENST00000290573.2	+	10	2163	c.1563C>T	c.(1561-1563)gaC>gaT	p.D521D	HK2_ENST00000409174.1_Silent_p.D493D	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	521	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CTACCCCGGACGGCACAGGTA	0.577000													9	31					0	0	1	0	0
TCN1	6947	broad.mit.edu	37	11	59623424	59623424	+	Silent	SNP	G	G	A	rs72550759	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:59623424G>A	ENST00000257264.3	-	6	959	c.855C>T	c.(853-855)aaC>aaT	p.N285N	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	285					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGGCTGCAGCGTTTGGATTGC	0.413000													5	126					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40854138	40854138	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:40854138G>C	ENST00000254691.5	+	3	2903	c.2704G>C	c.(2704-2706)Gca>Cca	p.A902P	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	902					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CTTTCAACCAGCAGCAGCCAC	0.483000													73	119					0	0	1	0	0
ZNF559	84527	broad.mit.edu	37	19	9453655	9453655	+	Nonsense_Mutation	SNP	C	C	T	rs147456906	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:9453655C>T	ENST00000393883.2	+	6	2176	c.1528C>T	c.(1528-1530)Cga>Tga	p.R510*	ZNF559_ENST00000603380.1_Nonsense_Mutation_p.R510*|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000538743.1_Nonsense_Mutation_p.R430*|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000587557.1_Nonsense_Mutation_p.R574*|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000586255.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ATATCTTATTCGACATCTAAG	0.438000													35	90					0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45812861	45812861	+	Missense_Mutation	SNP	C	C	T	rs145594682		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:45812861C>T	ENST00000263736.4	-	5	763	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	234					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ATTAAAGAGACGAATGATGTT	0.323000													31	81					0	0	1	0	0
ABHD16B	140701	broad.mit.edu	37	20	62493215	62493215	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:62493215C>T	ENST00000369916.3	+	1	650	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	C20ORF135_ENST00000601296.1_Silent_p.A1A	NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	108							hydrolase activity			endometrium(2)|kidney(1)|lung(3)	6						CTCGCTGGGCCGCTGGCTCGT	0.741000													12	10					0	0	1	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691350	39691350	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:39691350G>A	ENST00000339852.4	+	6	804	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	261	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GGGCTGCGGCGGACACGGGTG	0.632000													196	246					0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24737796	24737796	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:24737796G>A	ENST00000399409.3	-	9	1413	c.930C>T	c.(928-930)aaC>aaT	p.N310N	RABGGTA_ENST00000216840.6_Silent_p.N310N|RABGGTA_ENST00000560777.1_Intron	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	310					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GCAACTGGTCGTTGAGGGAGG	0.552000													46	21					0	0	1	0	0
ODC1	4953	broad.mit.edu	37	2	10582006	10582006	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:10582006G>A	ENST00000234111.4	-	10	1473	c.963C>T	c.(961-963)ggC>ggT	p.G321G	ODC1_ENST00000405333.1_Silent_p.G321G	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	321					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	ATCCATAGACGCCATCATTCA	0.378000													34	236					0	0	1	0	0
GGN	199720	broad.mit.edu	37	19	38876366	38876366	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:38876366G>A	ENST00000334928.6	-	3	1668	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	512	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			gtgcgggcgcggacacaggcg	0.746000													28	26					0	0	1	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62857963	62857963	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:62857963C>T	ENST00000253401.6	-	10	2296	c.1496G>A	c.(1495-1497)cGc>cAc	p.R499H	ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.R446H|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.R226H|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R397H|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R478H	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	499					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	p.R497H(2)|p.R499H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TGACTGGCTGCGCTTGGGTTC	0.493000													7	14					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232574983	232574983	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:232574983G>A	ENST00000366630.1	-	14	4260	c.3902C>T	c.(3901-3903)gCc>gTc	p.A1301V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A1301V|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.A375V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1301					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGAGACGTCGGCAGCATCAGC	0.667000													12	137					0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102669158	102669158	+	Missense_Mutation	SNP	C	C	T	rs147832645	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:102669158C>T	ENST00000393772.2	-	4	532	c.106G>A	c.(106-108)Gtc>Atc	p.V36I	FBXL13_ENST00000379306.3_Missense_Mutation_p.V36I|FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.V36I|FBXL13_ENST00000436908.1_Missense_Mutation_p.V36I|FBXL13_ENST00000379305.3_Missense_Mutation_p.V36I|FBXL13_ENST00000379308.3_Missense_Mutation_p.V36I|FBXL13_ENST00000313221.4_Missense_Mutation_p.V36I|FBXL13_ENST00000456695.1_Missense_Mutation_p.V36I			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	36								p.V36F(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCAGCCAGGACGACATTTTCA	0.343000													29	41					0	0	1	0	0
VMP1	81671	broad.mit.edu	37	17	57842391	57842391	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:57842391C>T	ENST00000262291.4	+	6	784	c.474C>T	c.(472-474)ccC>ccT	p.P158P	VMP1_ENST00000537567.1_Silent_p.P24P|VMP1_ENST00000539763.1_5'UTR|VMP1_ENST00000545362.1_Intron|VMP1_ENST00000536180.1_Silent_p.P61P	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	158					autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						TTAATTTTCCCGAACCACCCT	0.368000													20	83					0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88967854	88967854	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:88967854G>A	ENST00000375961.2	-	2	475	c.261C>T	c.(259-261)ccC>ccT	p.P87P	ZCCHC6_ENST00000375960.2_Silent_p.P87P|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375963.3_Silent_p.P87P			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	87					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCATCCAAGCGGGTTGACTGT	0.433000													94	184					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274307	39274307	+	Silent	SNP	G	G	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:39274307G>T	ENST00000391413.2	-	1	299	c.261C>A	c.(259-261)ccC>ccA	p.P87P		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	87	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				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)			GGCAGCACTGGGGCTTGCAGC	0.657000													17	88					7.45023e-12	7.62735e-12	1	1	0
CIT	11113	broad.mit.edu	37	12	120128190	120128190	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:120128190C>T	ENST00000392521.2	-	47	6007	c.5952G>A	c.(5950-5952)gcG>gcA	p.A1984A	CIT_ENST00000261833.7_Silent_p.A1942A|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1942					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTTCGGGCGGCGCTGGGCTGG	0.706000													13	22					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319341	21319341	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:21319341C>T	ENST00000583088.1	+	3	1582	c.687C>T	c.(685-687)cgC>cgT	p.R229R	KCNJ12_ENST00000331718.5_Silent_p.R229R	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.R229R(2)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CCCATGTGCGCGCGCAGCTCA	0.642000										Prostate(3;0.18)			28	65					0	0	1	0	0
RAB26	25837	broad.mit.edu	37	16	2202854	2202854	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2202854C>T	ENST00000210187.6	+	6	662	c.502C>T	c.(502-504)Cac>Tac	p.H168Y	RAB26_ENST00000541451.1_Missense_Mutation_p.H102Y	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	168					exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding			kidney(1)|large_intestine(1)|lung(3)	5						GTACGCCCAGCACGACGTGGC	0.687000													17	47					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119097282	119097282	+	Silent	SNP	C	C	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:119097282C>A	ENST00000328252.3	+	13	3909	c.3540C>A	c.(3538-3540)tcC>tcA	p.S1180S	PAPPA_ENST00000534838.1_Silent_p.S218S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1180					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCCTCCGTTCCTTCGACAACT	0.642000													62	119					4.46356e-37	4.61078e-37	1	1	0
CACNA1H	8912	broad.mit.edu	37	16	1250283	1250283	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:1250283G>A	ENST00000348261.5	+	7	1079	c.831G>A	c.(829-831)ccG>ccA	p.P277P	CACNA1H_ENST00000565831.1_Silent_p.P277P|CACNA1H_ENST00000358590.4_Silent_p.P277P	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	277					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCCTGCGGCCGTACTACCAGA	0.632000													3	25					0	0	1	0	0
DYNLRB1	83658	broad.mit.edu	37	20	33122560	33122560	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:33122560C>T	ENST00000417166.2	+	3	241	c.208C>T	c.(208-210)Cga>Tga	p.R70*	DYNLRB1_ENST00000374846.3_Nonsense_Mutation_p.R122*|DYNLRB1_ENST00000480759.1_3'UTR|DYNLRB1_ENST00000357156.2_Nonsense_Mutation_p.R70*			Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	70					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity			endometrium(1)|large_intestine(1)|lung(1)	3						CACCTTCCTTCGAATTCGCTC	0.537000													45	58					0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26650748	26650748	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:26650748C>T	ENST00000527815.1	-	17	2059	c.2010G>A	c.(2008-2010)gtG>gtA	p.V670V	AIM1L_ENST00000308182.5_Silent_p.V499V	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	499							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CATGGTCCGGCACTGCCAGGA	0.617000													5	98					0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125434988	125434988	+	Missense_Mutation	SNP	C	C	T	rs146274723	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:125434988C>T	ENST00000308736.2	-	23	3190	c.3092G>A	c.(3091-3093)cGg>cAg	p.R1031Q	DHX37_ENST00000544745.1_Missense_Mutation_p.R818Q	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1031							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		ACACAGCACCCGCCCCCGCTC	0.657000													29	32					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45885827	45885827	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:45885827C>T	ENST00000418234.2	-	12	2484	c.2406G>A	c.(2404-2406)gcG>gcA	p.A802A	PPP1R13L_ENST00000360957.5_Silent_p.A802A	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	802	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	p.A802A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGCCGTGCAGCGCGGCCCACC	0.697000													31	102					0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40803287	40803287	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:40803287C>T	ENST00000248929.9	+	12	1512	c.1323C>T	c.(1321-1323)cgC>cgT	p.R441R	SGSM3_ENST00000454798.2_Silent_p.R374R	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	441					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CCATCCTGCGCGTGGCACGCC	0.617000													43	85					0	0	1	0	0
DDX19A	55308	broad.mit.edu	37	16	70400563	70400563	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:70400563C>T	ENST00000302243.7	+	9	982	c.819C>T	c.(817-819)tcC>tcT	p.S273S	DDX19A_ENST00000443119.2_Silent_p.S183S|DDX19A_ENST00000417604.2_Silent_p.S242S	NM_018332.3	NP_060802.1			DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A											breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				TGCTTTTCTCCGCCACCTTTG	0.562000													43	92					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47423450	47423450	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:47423450C>T	ENST00000361866.3	+	35	2724	c.2610C>T	c.(2608-2610)gaC>gaT	p.D870D	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	870	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CCGCCCACGACGTGCGGGTGG	0.711000													21	65					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149532	34149532	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:34149532G>A	ENST00000346193.3	-	1	915	c.864C>T	c.(862-864)gaC>gaT	p.D288D		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	288										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTGTGGGTTCGTCAGTTGTCT	0.577000													13	29					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50882544	50882544	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:50882544C>T	ENST00000359139.3	+	22	3145	c.2751C>T	c.(2749-2751)gaC>gaT	p.D917D	PPP6R2_ENST00000395741.3_Silent_p.D917D|PPP6R2_ENST00000395744.3_Silent_p.D916D|PPP6R2_ENST00000216061.5_Silent_p.D950D	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	950						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TGACAAAGGACGGGTGAGCAG	0.667000													44	98					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56094110	56094110	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:56094110G>A	ENST00000257880.7	-	5	957	c.738C>T	c.(736-738)taC>taT	p.Y246Y	ITGA7_ENST00000452168.2_Silent_p.Y149Y|ITGA7_ENST00000553804.1_Silent_p.Y246Y|ITGA7_ENST00000394230.2_Silent_p.Y246Y|ITGA7_ENST00000347027.6_Intron|ITGA7_ENST00000257879.6_Intron|ITGA7_ENST00000394229.2_Intron|ITGA7_ENST00000555728.1_Silent_p.Y246Y			Q13683	ITA7_HUMAN	integrin, alpha 7	246					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCCCGCCTCGTAGGGACCGT	0.662000													24	54					0	0	1	0	0
AASDHPPT	60496	broad.mit.edu	37	11	105967614	105967614	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:105967614C>T	ENST00000278618.4	+	6	1132	c.910C>T	c.(910-912)Cga>Tga	p.R304*	RP11-677I18.3_ENST00000527594.1_RNA|RP11-677I18.3_ENST00000532422.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	304					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		AATTCCAATACGAAATGGTAC	0.348000													9	29					0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70645798	70645798	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:70645798G>A	ENST00000298596.6	+	3	2329	c.2246G>A	c.(2245-2247)cGt>cAt	p.R749H	STOX1_ENST00000399169.4_Missense_Mutation_p.R749H|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.R639H	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	749						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GACGACTTACGTCAAATGCTG	0.438000													28	78					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7619474	7619474	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:7619474C>T	ENST00000221249.6	+	24	2816	c.2385C>T	c.(2383-2385)gcC>gcT	p.A795A	PNPLA6_ENST00000545201.2_Silent_p.A768A|PNPLA6_ENST00000600737.1_Silent_p.A833A|PNPLA6_ENST00000450331.3_Silent_p.A795A|PNPLA6_ENST00000414982.3_Silent_p.A843A	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	834					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GGTGGCTGGCCCAGCAGGAGG	0.652000													26	76					0	0	1	0	0
FAM107A	11170	broad.mit.edu	37	3	58552905	58552905	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:58552905C>T	ENST00000464064.1	-	3	441	c.357G>A	c.(355-357)acG>acA	p.T119T	FAM107A_ENST00000360997.2_Intron|FAM107A_ENST00000474531.1_Intron|FAM107A_ENST00000394481.1_Intron|FAM107A_ENST00000447756.2_Intron			O95990	F107A_HUMAN	family with sequence similarity 107, member A	119					regulation of cell growth	nucleus	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		CTGGAGGATGCGTGGTCCCTG	0.617000													12	58					0	0	1	0	0
DNM1P46	0	broad.mit.edu	37	15	100339849	100339849	+	RNA	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:100339849G>A	ENST00000341853.1	-	0	1077					NR_003260.1																						GCAGCTAGGCGTCGTCCACGG	0.642000													22	60					0	0	1	0	0
EXTL1	2134	broad.mit.edu	37	1	26349416	26349416	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:26349416C>T	ENST00000374280.3	+	1	1146	c.279C>T	c.(277-279)ggC>ggT	p.G93G		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	93					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGCAGGGGCGATGGCCTTA	0.542000													26	128					0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8858658	8858658	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:8858658G>A	ENST00000396600.2	+	8	1449	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	ABAT_ENST00000569156.1_Missense_Mutation_p.A171T|ABAT_ENST00000425191.2_Missense_Mutation_p.A171T|ABAT_ENST00000567812.1_Missense_Mutation_p.A186T|ABAT_ENST00000268251.8_Missense_Mutation_p.A171T	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	171				MSQLITMACGSCSNENA -> CPSSSPWPACPAPMKTT (in Ref. 2; AAB38510).	behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	p.A171T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CAATGAAAACGCCTTAAAGAC	0.592000													25	97					0	0	1	0	0
IL17RA	23765	broad.mit.edu	37	22	17589817	17589817	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:17589817G>A	ENST00000319363.6	+	13	1841	c.1708G>A	c.(1708-1710)Gcc>Acc	p.A570T		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	570					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GCTCCGCGCCGCCCTGGACAG	0.677000													7	32					0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172062857	172062857	+	Silent	SNP	A	A	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:172062857A>C	ENST00000355305.5	+	14	1724	c.1567A>C	c.(1567-1569)Agg>Cgg	p.R523R	DNM3_ENST00000367733.2_Intron|DNM3_ENST00000520906.1_Intron|DNM3_ENST00000358155.4_Intron|DNM3_ENST00000367731.1_Intron			Q9UQ16	DYN3_HUMAN	dynamin 3	523	PH.				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCCGCCTTCAAGGCAAATTGT	0.353000													4	89					0	0	1	0	0
MARCH9	92979	broad.mit.edu	37	12	58152527	58152527	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:58152527G>A	ENST00000266643.5	+	4	1319	c.888G>A	c.(886-888)acG>acA	p.T296T	MARCH9_ENST00000548358.1_Silent_p.T183T	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	296						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CTGGGGCCACGAGCCGCCCCC	0.652000													10	26					0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	239975226	239975226	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:239975226C>T	ENST00000345617.3	-	26	3936	c.3145G>A	c.(3145-3147)Gag>Aag	p.E1049K	HDAC4_ENST00000543185.1_Missense_Mutation_p.E633K	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1049	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TCTTCGTTCTCGCAAGTCTGA	0.662000													53	63					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1080294	1080294	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:1080294C>T	ENST00000441003.2	+	8	1041	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D	MUC2_ENST00000359061.5_Silent_p.D338D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	338	TIL.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCGTATATGACGACATCGGGG	0.647000													5	18					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141164403	141164403	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:141164403G>A	ENST00000514251.1	+	4	3452	c.3173G>A	c.(3172-3174)cGc>cAc	p.R1058H	ZBTB38_ENST00000441582.2_Missense_Mutation_p.R1058H|ZBTB38_ENST00000321464.5_Missense_Mutation_p.R1059H			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	1058					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AAACATGAACGCATCCACCTG	0.478000													71	33					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46574124	46574124	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:46574124G>A	ENST00000263734.3	+	2	649	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	47	Helix-loop-helix motif.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCCCCACAGTGTGAGCTCCCA	0.617000													13	214					0	0	1	0	0
FANCB	2187	broad.mit.edu	37	X	14883271	14883271	+	Missense_Mutation	SNP	C	C	T	rs142289802	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:14883271C>T	ENST00000398334.1	-	3	629	c.362G>A	c.(361-363)cGt>cAt	p.R121H	FANCB_ENST00000324138.3_Missense_Mutation_p.R121H	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	121					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					AAAACTCAAACGCATTTCAAA	0.313000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				20	7					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19501461	19501461	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:19501461C>T	ENST00000375267.2	-	21	2843	c.2840G>A	c.(2839-2841)cGa>cAa	p.R947Q	UBR4_ENST00000375217.2_Missense_Mutation_p.R947Q|UBR4_ENST00000375226.2_Missense_Mutation_p.R947Q|UBR4_ENST00000375254.3_Missense_Mutation_p.R947Q			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	947					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGAATCAAGTCGGTTCAAATC	0.438000													51	103					0	0	1	0	0
RP11-347C12.2	0	broad.mit.edu	37	16	30316394	30316394	+	RNA	SNP	C	C	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:30316394C>G	ENST00000411546.3	-	0	701					NR_002453.4																						TTCCTCATGTCTTTGGTGGCT	0.483000													3	36					0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88958664	88958664	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:88958664C>T	ENST00000268679.4	-	4	1005	c.609G>A	c.(607-609)gtG>gtA	p.V203V	CBFA2T3_ENST00000448839.1_Silent_p.V127V|CBFA2T3_ENST00000327483.5_Silent_p.V117V|CBFA2T3_ENST00000360302.2_Silent_p.V117V|CBFA2T3_ENST00000436887.2_Silent_p.V178V	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	203	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH.				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V203V(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CCAGGCCCAGCACCAGTGTGC	0.627000			T	RUNX1	AML								20	63					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130921520	130921520	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:130921520G>A	ENST00000261655.4	-	10	2085	c.1922C>T	c.(1921-1923)cCg>cTg	p.P641L	RIMBP2_ENST00000536002.1_Missense_Mutation_p.P549L|RIMBP2_ENST00000535703.1_Missense_Mutation_p.P549L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	641	Pro-rich.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCCACGGGCGGCTCCAGCAT	0.711000													16	16					0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104999270	104999270	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:104999270T>A	ENST00000372582.1	+	10	2048	c.1292T>A	c.(1291-1293)cTg>cAg	p.L431Q	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.L431Q|IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.L36Q	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	431	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTTGAAGTACTGCCAGATGTC	0.378000													30	101					0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23405541	23405541	+	Silent	SNP	C	C	T	rs145299191		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:23405541C>T	ENST00000400181.4	+	17	2030	c.1926C>T	c.(1924-1926)tgC>tgT	p.C642C	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Silent_p.C642C|KDM1A_ENST00000356634.3_Silent_p.C618C	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	618	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTTATAAATGCGACGCAGTTC	0.507000													38	204					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50147116	50147116	+	RNA	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:50147116G>A	ENST00000376025.2	-	0	1068							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGCTGGGTCCGGTGGCTGTAA	0.438000													19	9					0	0	1	0	0
PGLYRP1	8993	broad.mit.edu	37	19	46522887	46522887	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:46522887G>A	ENST00000008938.4	-	2	349	c.306C>T	c.(304-306)gaC>gaT	p.D102D	CCDC61_ENST00000601763.1_Intron	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	102					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		ATACGAGCCCGTCTTCTCCAA	0.592000													28	34					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2367755	2367755	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2367755C>T	ENST00000301732.5	-	9	1584	c.884G>A	c.(883-885)cGc>cAc	p.R295H	ABCA3_ENST00000382381.3_Missense_Mutation_p.R295H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	295					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCCCATCATGCGCATGTACTC	0.627000													51	62					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655182	19655182	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:19655182G>A	ENST00000586018.1	+	8	1948	c.1846G>A	c.(1846-1848)Gtg>Atg	p.V616M	CILP2_ENST00000291495.4_Missense_Mutation_p.V610M			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	610						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGTGACGTTCGTGGACCCCCG	0.692000													77	175					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123036943	123036943	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:123036943G>A	ENST00000462833.1	-	11	3490	c.2278C>T	c.(2278-2280)Cga>Tga	p.R760*	ADCY5_ENST00000309879.5_Nonsense_Mutation_p.R410*|ADCY5_ENST00000491190.1_Nonsense_Mutation_p.R393*	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	760					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCACCAAATCGGTCGTCTACC	0.602000													40	11					0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45217829	45217829	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:45217829C>T	ENST00000279027.4	-	7	1004	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000495082.1_Missense_Mutation_p.R282Q|SLC13A3_ENST00000396360.1_Missense_Mutation_p.R282Q|SLC13A3_ENST00000372121.1_Missense_Mutation_p.R279Q|SLC13A3_ENST00000413164.2_Missense_Mutation_p.R279Q|SLC13A3_ENST00000290317.5_Missense_Mutation_p.R282Q|SLC13A3_ENST00000472148.1_Missense_Mutation_p.R282Q	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	329						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GTATTCTTCCCGAATTACAGC	0.502000													24	130					0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151461914	151461914	+	Missense_Mutation	SNP	C	C	T	rs145856421		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:151461914C>T	ENST00000356517.3	+	3	504	c.395C>T	c.(394-396)aCg>aTg	p.T132M		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	132						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AATAGATGGACGGCAAACACG	0.358000													72	25					0	0	1	0	0
UGT2B11	10720	broad.mit.edu	37	4	70079942	70079942	+	Missense_Mutation	SNP	G	G	A	rs148268917		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:70079942G>A	ENST00000446444.1	-	1	507	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	167					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.R167R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TACACAAACCGTATGTTAAGT	0.418000													51	93					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52380763	52380763	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:52380763C>T	ENST00000420323.2	+	11	2193	c.1932C>T	c.(1930-1932)gaC>gaT	p.D644D		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	644	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCTGGGGTGACGACTTAATTA	0.602000													25	7					0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130511902	130511902	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:130511902G>A	ENST00000314830.8	-	5	840	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W	SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R83W|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R85W|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R175W|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R86W	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	243	SH2.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGTGAGTCCCGGATGAGGAAG	0.612000													6	15					0	0	1	0	0
STK32B	55351	broad.mit.edu	37	4	5418644	5418644	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:5418644G>A	ENST00000282908.5	+	6	967	c.545G>A	c.(544-546)gGc>gAc	p.G182D	STK32B_ENST00000512636.1_Intron|STK32B_ENST00000510398.1_Missense_Mutation_p.G135D	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	182	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						TCCATGGCTGGCACCAAGCCC	0.493000													3	27					0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61912746	61912746	+	Silent	SNP	C	C	T	rs141016037		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:61912746C>T	ENST00000394818.3	+	13	2023	c.1821C>T	c.(1819-1821)gaC>gaT	p.D607D	INCENP_ENST00000278849.4_Silent_p.D603D	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	607					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTCAGATCGACGAGAAGACTG	0.577000													9	131					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82372829	82372829	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:82372829G>A	ENST00000370728.1	+	6	846	c.201G>A	c.(199-201)acG>acA	p.T67T	LPHN2_ENST00000370721.1_Silent_p.T67T|LPHN2_ENST00000370730.1_Silent_p.T67T|LPHN2_ENST00000335786.5_Silent_p.T67T|LPHN2_ENST00000271029.4_Silent_p.T67T|LPHN2_ENST00000370713.1_Silent_p.T67T|LPHN2_ENST00000359929.3_Silent_p.T67T|LPHN2_ENST00000370725.1_Silent_p.T67T|LPHN2_ENST00000370715.1_Silent_p.T67T|LPHN2_ENST00000370717.2_Silent_p.T67T|LPHN2_ENST00000370723.1_Silent_p.T67T|LPHN2_ENST00000319517.6_Silent_p.T67T|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000394879.1_Silent_p.T67T|LPHN2_ENST00000370727.1_Silent_p.T67T			O95490	LPHN2_HUMAN	latrophilin 2	67	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATGGTCGGACGGATGACAAGA	0.453000													7	215					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74289330	74289330	+	Missense_Mutation	SNP	C	C	T	rs151086130	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:74289330C>T	ENST00000262765.5	-	4	1159	c.980G>A	c.(979-981)cGt>cAt	p.R327H		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	327							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TACACATCCACGCTGATCCAT	0.498000													147	54					0	0	1	0	0
CHIA	27159	broad.mit.edu	37	1	111857960	111857960	+	Missense_Mutation	SNP	G	G	A	rs140031055		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:111857960G>A	ENST00000369740.1	+	6	486	c.383G>A	c.(382-384)cGc>cAc	p.R128H	CHIA_ENST00000430615.1_Missense_Mutation_p.R20H|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.R128H|CHIA_ENST00000483391.1_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	128					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		AAATTCCTGCGCCAGTATGAG	0.547000													86	165					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147600796	147600796	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:147600796C>T	ENST00000361727.3	+	14	2754	c.2238C>T	c.(2236-2238)gaC>gaT	p.D746D		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	746	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTAACTGCGACGCGGACTACA	0.537000										HNSCC(39;0.1)			15	26					0	0	1	0	0
TPSAB1	7177	broad.mit.edu	37	16	1292148	1292148	+	Silent	SNP	C	C	T	rs147278526	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:1292148C>T	ENST00000461509.2	+	5	950	c.756C>T	c.(754-756)ggC>ggT	p.G252G	TPSAB1_ENST00000338844.3_Silent_p.G245G			P20231	TRYB2_HUMAN	tryptase alpha/beta 1	245	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				TCAGCTGGGGCGAGGGCTGTG	0.657000													11	36					0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2995776	2995776	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:2995776C>T	ENST00000331459.1	-	1	514	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	172					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GTGGATTTTTCGTGACCCACA	0.468000													52	17					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100390125	100390125	+	RNA	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:100390125C>T	ENST00000542585.1	+	0	7956				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCCAGGAGGCGGGCGCTGCC	0.672000													40	44					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170060607	170060607	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:170060607G>A	ENST00000263816.3	-	42	8175	c.7890C>T	c.(7888-7890)acC>acT	p.T2630T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2630					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GCAAATTTGTGGTCATTGCAA	0.448000													69	294					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15711316	15711316	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:15711316G>A	ENST00000396368.3	-	14	3003	c.2797C>T	c.(2797-2799)Cgg>Tgg	p.R933W	KIAA0430_ENST00000551742.1_Missense_Mutation_p.R933W|KIAA0430_ENST00000548025.1_Missense_Mutation_p.R930W|KIAA0430_ENST00000602337.1_Missense_Mutation_p.R930W|KIAA0430_ENST00000540441.2_Missense_Mutation_p.R768W|KIAA0430_ENST00000344181.3_Missense_Mutation_p.R575W	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	932						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CACACCAGCCGTCCGTTTCCT	0.512000													16	56					0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24581087	24581087	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:24581087G>A	ENST00000358321.3	+	6	1069	c.808G>A	c.(808-810)Gac>Aac	p.D270N		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	270					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CTGGACCAACGACCACGCACT	0.672000													28	52					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7310123	7310123	+	Missense_Mutation	SNP	G	G	A	rs138735435		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:7310123G>A	ENST00000537408.1	+	16	3140	c.2602G>A	c.(2602-2604)Gtg>Atg	p.V868M	CLSTN3_ENST00000331148.5_3'UTR|CLSTN3_ENST00000266546.6_Missense_Mutation_p.V856M			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	856					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.V856M(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGTGGTGTGCGTGGGCTTCCT	0.667000													32	43					0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27065189	27065189	+	Missense_Mutation	SNP	G	G	A	rs138066977		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:27065189G>A	ENST00000268766.6	+	8	1182	c.1148G>A	c.(1147-1149)cGt>cAt	p.R383H	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	383						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TTCATCTCGCGTTTCCTGGAG	0.657000													18	51					0	0	1	0	0
ZFP41	286128	broad.mit.edu	37	8	144332534	144332534	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144332534C>T	ENST00000330701.4	+	2	890	c.521C>T	c.(520-522)aCg>aTg	p.T174M	ZFP41_ENST00000522452.1_Missense_Mutation_p.T174M|ZFP41_ENST00000520584.1_Missense_Mutation_p.T174M	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	174					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TACGAATGCACGCACTGTGGG	0.592000													42	112					0	0	1	0	0
DNAJC16	23341	broad.mit.edu	37	1	15874846	15874846	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:15874846C>T	ENST00000375847.3	+	7	1110	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	DNAJC16_ENST00000375838.1_Missense_Mutation_p.R316W|DNAJC16_ENST00000375849.1_Missense_Mutation_p.R316W	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	316					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GATGACAAGGCGGTACAACAT	0.428000													34	43					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131388869	131388869	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:131388869G>A	ENST00000372739.3	+	49	6589	c.6479G>A	c.(6478-6480)cGc>cAc	p.R2160H	SPTAN1_ENST00000372731.4_Missense_Mutation_p.R2155H|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R2160H	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2155					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GAGCTGGACCGCCAGATCAAG	0.582000													14	62					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84563165	84563165	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:84563165G>A	ENST00000262753.4	-	10	1160	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	POF1B_ENST00000373145.3_Missense_Mutation_p.R339W	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	339							actin binding	p.R339R(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AGCTCCTCCCGTATGTTGCTA	0.358000													46	11					0	0	1	0	0
ZNF205	7755	broad.mit.edu	37	16	3169669	3169669	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:3169669C>T	ENST00000382192.3	+	7	1213	c.1008C>T	c.(1006-1008)taC>taT	p.Y336Y	RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Silent_p.Y336Y|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						AGAAGCCCTACGCCTGCACTG	0.682000													86	89					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35823774	35823774	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:35823774G>T	ENST00000085219.5	+	3	425	c.359G>T	c.(358-360)aGg>aTg	p.R120M	CD22_ENST00000270311.6_5'UTR|CD22_ENST00000341773.6_Missense_Mutation_p.R120M|CD22_ENST00000595419.1_3'UTR|CD22_ENST00000536635.2_Missense_Mutation_p.R120M|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000544992.2_Missense_Mutation_p.R120M|CD22_ENST00000594250.1_Missense_Mutation_p.R120M	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	120	Ig-like V-type.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CTGGGGCTGAGGATGGAGTCC	0.542000													18	71					0.000132079	0.000133239	1	1	0
PREX1	57580	broad.mit.edu	37	20	47266679	47266679	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:47266679C>T	ENST00000396220.1	-	24	2905	c.2883G>A	c.(2881-2883)ccG>ccA	p.P961P	PREX1_ENST00000371941.3_Silent_p.P961P			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	961					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGCCACACAGCGGGTGGGGCT	0.592000													78	163					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674814	71674814	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:71674814G>A	ENST00000299952.4	+	3	1160	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T	PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR|MARVELD3_ENST00000561682.1_Intron	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	376	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CATGTACGGCGCCAGCGTGGT	0.597000													35	38					0	0	1	0	0
ICOSLG	23308	broad.mit.edu	37	21	45651221	45651221	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:45651221G>A	ENST00000407780.3	-	5	931	c.804C>T	c.(802-804)gtC>gtT	p.V268V	ICOSLG_ENST00000344330.4_Silent_p.V268V|ICOSLG_ENST00000400377.3_Silent_p.V151V|ICOSLG_ENST00000400379.3_Silent_p.V268V			O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	268					B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		CCACCGCCACGACCACAAGCA	0.567000													52	72					0	0	1	0	0
PCED1A	64773	broad.mit.edu	37	20	2820527	2820527	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:2820527C>T	ENST00000360652.2	-	2	534	c.32G>A	c.(31-33)cGc>cAc	p.R11H	PCED1A_ENST00000356872.3_Missense_Mutation_p.R11H	NM_022760.3	NP_073597.2			PC-esterase domain containing 1A																		CAGCGGGCGGCGCGGCTCCTC	0.637000													35	42					0	0	1	0	0
WTAP	9589	broad.mit.edu	37	6	160176453	160176453	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:160176453C>T	ENST00000358372.4	+	8	2758	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	334					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CAACTCAGTGCGGGGTATGAA	0.483000													33	64					0	0	1	0	0
SHD	56961	broad.mit.edu	37	19	4290594	4290594	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:4290594G>A	ENST00000543264.2	+	6	2450	c.987G>A	c.(985-987)ctG>ctA	p.L329L	SHD_ENST00000599689.1_Silent_p.L289L	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	329	SH2.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGAGCATCTGGCTCTGCTGT	0.662000													36	86					0	0	1	0	0
MIER3	166968	broad.mit.edu	37	5	56231270	56231270	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:56231270C>T	ENST00000381226.3	-	7	610	c.595G>A	c.(595-597)Gat>Aat	p.D199N	MIER3_ENST00000381199.3_Missense_Mutation_p.D194N|MIER3_ENST00000409421.1_Missense_Mutation_p.D131N|MIER3_ENST00000381213.3_Missense_Mutation_p.D194N			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	194	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TCATTACCATCGTACTCTCCA	0.313000													26	121					0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8752647	8752647	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:8752647G>A	ENST00000534127.1	-	6	575	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	ST5_ENST00000357665.1_Missense_Mutation_p.R64W|ST5_ENST00000313726.6_Missense_Mutation_p.R64W|ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	64	Pro-rich.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AGGAGCACCCGGGAGCTGGAG	0.612000													6	61					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50912844	50912844	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:50912844C>T	ENST00000440232.2	+	17	2128	c.2075C>T	c.(2074-2076)gCg>gTg	p.A692V	POLD1_ENST00000595904.1_Missense_Mutation_p.A718V|POLD1_ENST00000599857.1_Missense_Mutation_p.A692V	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	692					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGGCAGCTGGCGCTGAAGGTG	0.672000								DNA polymerases (catalytic subunits)					10	194					0	0	1	0	0
TMEM86A	144110	broad.mit.edu	37	11	18723160	18723160	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:18723160G>A	ENST00000280734.2	+	3	423	c.327G>A	c.(325-327)tcG>tcA	p.S109S	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	109						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						TCTACGCCTCGGCCTTTGGCA	0.587000													92	91					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207793369	207793369	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:207793369C>T	ENST00000367049.4	+	43	7211	c.7211C>T	c.(7210-7212)gCg>gTg	p.A2404V	CR1_ENST00000367053.1_Missense_Mutation_p.A1954V|CR1_ENST00000367052.1_Missense_Mutation_p.A1954V|CR1_ENST00000400960.2_Missense_Mutation_p.A1954V|CR1_ENST00000367051.1_Missense_Mutation_p.A1954V	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1954					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAGTGCCAGGCGGATGACAGA	0.468000											OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	34					0	0	1	0	0
DRD5	0	broad.mit.edu	37	4	9783925	9783925	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:9783925C>T	ENST00000304374.2	+	1	668	c.272C>T	c.(271-273)gCg>gTg	p.A91V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	91					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CTTTTCGTGGCGCTGCTGGTC	0.632000													24	101					0	0	1	0	0
ATIC	471	broad.mit.edu	37	2	216209588	216209588	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:216209588C>T	ENST00000435675.1	+	12	1702	c.1311C>T	c.(1309-1311)aaC>aaT	p.N437N	ATIC_ENST00000236959.9_Silent_p.N438N|ATIC_ENST00000540518.1_Silent_p.N379N			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	438					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	ACGCCAAGAACGGGCAGGTAA	0.488000			T	ALK	ALCL								28	61					0	0	1	0	0
RP11-451O13.1	0	broad.mit.edu	37	1	157895827	157895827	+	RNA	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:157895827G>A	ENST00000452528.1	+	0	64																											TGGCACTCACGGTCACAGGTG	0.557000													11	18					0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12817117	12817117	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:12817117C>T	ENST00000425528.1	-	15	1918	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	TNPO2_ENST00000356861.5_Missense_Mutation_p.D521N|TNPO2_ENST00000450764.2_Missense_Mutation_p.D521N|TNPO2_ENST00000441499.1_Missense_Mutation_p.D521N|TNPO2_ENST00000588216.1_Missense_Mutation_p.D521N|TNPO2_ENST00000592287.1_Missense_Mutation_p.D521N			O14787	TNPO2_HUMAN	transportin 2	521					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACAAGGGTGTCCAGGATGTAG	0.587000													19	72					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	34998924	34998924	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:34998924C>T	ENST00000231420.6	-	14	1645	c.1445G>A	c.(1444-1446)cGc>cAc	p.R482H		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	482					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GGGCGCAATGCGAAATGTCTG	0.368000													26	37					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133254167	133254167	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:133254167G>A	ENST00000320574.5	-	7	760	c.717C>T	c.(715-717)caC>caT	p.H239H	POLE_ENST00000535270.1_Silent_p.H212H	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	239					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CACTCACCACGTGGATCTTCA	0.498000								DNA polymerases (catalytic subunits)					26	57					0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10383214	10383214	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:10383214G>A	ENST00000328655.3	+	1	159	c.119G>A	c.(118-120)cGc>cAc	p.R40H	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.R40H	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	40					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GGAGCCCACCGCCCTCAGCCC	0.662000													13	23					0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50224060	50224060	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:50224060G>A	ENST00000002829.3	+	18	2312	c.1828G>A	c.(1828-1830)Gtg>Atg	p.V610M	SEMA3F_ENST00000434342.1_Missense_Mutation_p.V579M|SEMA3F_ENST00000413852.1_Missense_Mutation_p.V511M	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	610	Ig-like C2-type.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CAAGAATGCCGTGGAGTCTGT	0.627000													22	68					0	0	1	0	0
ZNF202	7753	broad.mit.edu	37	11	123596990	123596990	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:123596990C>T	ENST00000336139.4	-	8	2024	c.1662G>A	c.(1660-1662)gcG>gcA	p.A554A	ZNF202_ENST00000530393.1_Silent_p.A554A|ZNF202_ENST00000529691.1_Silent_p.A554A			O95125	ZN202_HUMAN	zinc finger protein 202	554					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TCTTCCGGTGCGCCAGGTACC	0.577000													61	69					0	0	1	0	0
KIF7	374654	broad.mit.edu	37	15	90176401	90176401	+	Missense_Mutation	SNP	C	C	T	rs149548398		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:90176401C>T	ENST00000394412.3	-	13	2765	c.2689G>A	c.(2689-2691)Ggc>Agc	p.G897S		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	897					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			ACCACAGAGCCGTTGCTGCCA	0.622000													6	20					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128483620	128483620	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:128483620G>A	ENST00000325888.8	+	18	3061	c.2800G>A	c.(2800-2802)Gct>Act	p.A934T	FLNC_ENST00000346177.6_Missense_Mutation_p.A934T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	934					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAAGTACACCGCTGTCCAGCA	0.612000													43	79					0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951531	46951531	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:46951531C>T	ENST00000311124.4	-	3	873	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	SLC19A1_ENST00000567670.1_Missense_Mutation_p.A241T|SLC19A1_ENST00000485649.2_Missense_Mutation_p.A201T|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A241T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	241					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		ACCCGCAGGGCGTGTCCCAGC	0.716000													69	60					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47891361	47891361	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:47891361C>T	ENST00000446256.2	+	23	3791	c.3219C>T	c.(3217-3219)gaC>gaT	p.D1073D	DHX30_ENST00000445061.1_Silent_p.D1112D|DHX30_ENST00000457607.1_Silent_p.D1140D|DHX30_ENST00000348968.4_Silent_p.D1084D	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1112						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCTCAGATGACGGGCGCCGGG	0.692000											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	150					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52407044	52407044	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:52407044C>T	ENST00000420323.2	+	44	7221	c.6960C>T	c.(6958-6960)ggC>ggT	p.G2320G		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2320	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGACCACGGCGGCTGGTACG	0.612000													10	44					0	0	1	0	0
CDC16	8881	broad.mit.edu	37	13	115016143	115016143	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr13:115016143T>C	ENST00000360383.3	+	12	1289	c.1091T>C	c.(1090-1092)aTg>aCg	p.M364T	CDC16_ENST00000356221.3_Missense_Mutation_p.M364T|CDC16_ENST00000252457.5_Missense_Mutation_p.M363T|CDC16_ENST00000252458.6_Missense_Mutation_p.M270T|CDC16_ENST00000375308.1_Missense_Mutation_p.M270T|CDC16_ENST00000375310.1_Missense_Mutation_p.M270T|CDC16_ENST00000375312.3_Missense_Mutation_p.M270T	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	364					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			GCACAGCTGATGAAAGGGTAC	0.428000													53	17					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29900012	29900012	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:29900012C>T	ENST00000308713.5	-	6	1415	c.888G>A	c.(886-888)ccG>ccA	p.P296P	SEZ6L2_ENST00000537485.1_Silent_p.P252P|SEZ6L2_ENST00000350527.3_Silent_p.P226P|SEZ6L2_ENST00000346932.5_Silent_p.P182P|SEZ6L2_ENST00000562159.1_5'UTR	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	296	Sushi 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCCATGGGCCGGCCGGGGAG	0.637000													14	75					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24479228	24479228	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:24479228G>A	ENST00000398319.2	+	20	3181	c.2796G>A	c.(2794-2796)acG>acA	p.T932T	CABIN1_ENST00000405822.2_Silent_p.T882T|CABIN1_ENST00000263119.5_Silent_p.T932T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	932					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGAAGACACGCACCCTTACA	0.582000													40	50					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66460877	66460877	+	Missense_Mutation	SNP	G	G	A	rs150801133	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66460877G>A	ENST00000533211.1	-	24	4965	c.4634C>T	c.(4633-4635)gCg>gTg	p.A1545V	SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1545V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1545V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1545					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCTCAGGTCCGCGATCCGGGG	0.627000													9	35					0	0	1	0	0
TMEM177	80775	broad.mit.edu	37	2	120439264	120439264	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:120439264G>A	ENST00000424086.1	+	2	1308	c.835G>A	c.(835-837)Gtc>Atc	p.V279I	TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.V279I|TMEM177_ENST00000401466.1_Missense_Mutation_p.V279I	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	279						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CGGGAACATCGTCCCCAGACA	0.582000													95	95					0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	67012792	67012792	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:67012792C>T	ENST00000529006.2	+	14	2142	c.1696C>T	c.(1696-1698)Cgg>Tgg	p.R566W	KDM2A_ENST00000308783.5_Missense_Mutation_p.R24W|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.R127W|KDM2A_ENST00000398645.2_Missense_Mutation_p.R566W	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGGAGCCAGACGGAGACGAGT	0.552000													38	86					0	0	1	0	0
RGN	9104	broad.mit.edu	37	X	46951573	46951573	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:46951573G>A	ENST00000397180.1	+	7	1777	c.808G>A	c.(808-810)Gag>Aag	p.E270K	RGN_ENST00000352078.4_Missense_Mutation_p.E270K|RGN_ENST00000457380.1_Missense_Mutation_p.E198K|RGN_ENST00000336169.3_Missense_Mutation_p.E270K	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN	regucalcin	270					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						GATGGACCCCGAGGGTCTTTT	0.463000													12	2					0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46951822	46951822	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:46951822C>T	ENST00000311124.4	-	3	582	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	SLC19A1_ENST00000567670.1_Missense_Mutation_p.V144M|SLC19A1_ENST00000485649.2_Missense_Mutation_p.V104M|SLC19A1_ENST00000380010.4_Missense_Mutation_p.V144M	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	144					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GCGGGCCGCACGAGAGAGAAG	0.667000													5	9					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96864584	96864584	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:96864584C>T	ENST00000267584.4	+	2	322	c.278C>T	c.(277-279)gCg>gTg	p.A93V	AK7_ENST00000555570.1_Missense_Mutation_p.A93V|AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	93					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CCTGACTTTGCGGTGGAGACG	0.547000													50	34					0	0	1	0	0
NOP14	8602	broad.mit.edu	37	4	2943380	2943380	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:2943380C>T	ENST00000416614.2	-	15	2193	c.2128G>A	c.(2128-2130)Gcc>Acc	p.A710T	NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.A710T|NOP14_ENST00000502735.1_Missense_Mutation_p.A710T|NOP14-AS1_ENST00000512712.2_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14_ENST00000314262.6_Missense_Mutation_p.A710T|NOP14_ENST00000507120.1_5'UTR|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000505731.1_RNA			P78316	NOP14_HUMAN	NOP14 nucleolar protein	710					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CCCATGATGGCGTGGAAGGAT	0.662000													19	33					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991396	144991396	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144991396C>T	ENST00000322810.4	-	32	13173	c.13004G>A	c.(13003-13005)cGc>cAc	p.R4335H	PLEC_ENST00000354958.2_Missense_Mutation_p.R4176H|PLEC_ENST00000527096.1_Missense_Mutation_p.R4221H|PLEC_ENST00000398774.2_Missense_Mutation_p.R4166H|PLEC_ENST00000356346.3_Missense_Mutation_p.R4184H|PLEC_ENST00000345136.3_Missense_Mutation_p.R4198H|PLEC_ENST00000354589.3_Missense_Mutation_p.R4198H|PLEC_ENST00000436759.2_Missense_Mutation_p.R4225H|PLEC_ENST00000357649.2_Missense_Mutation_p.R4202H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4335	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGCCCGGAGCGGCGGTCGAT	0.637000													21	47					0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70464210	70464210	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:70464210C>A	ENST00000373998.1	-	20	3883	c.3186G>T	c.(3184-3186)tgG>tgT	p.W1062C	ZMYM3_ENST00000353904.2_Missense_Mutation_p.W1074C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.W1076C|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.W1074C|ZMYM3_ENST00000373984.3_Missense_Mutation_p.W1076C	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1074					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTGACTGCACCCAGCACTTCC	0.557000													19	22					4.96729e-08	5.04788e-08	1	1	0
SLC36A1	206358	broad.mit.edu	37	5	150856223	150856223	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:150856223G>A	ENST00000243389.3	+	9	1118	c.895G>A	c.(895-897)Gtc>Atc	p.V299I	SLC36A1_ENST00000520701.1_Missense_Mutation_p.V299I|SLC36A1_ENST00000521925.1_Missense_Mutation_p.V299I	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	299					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	CATGGTCATCGTCACCATCCT	0.517000													54	82					0	0	1	0	0
GPR35	2859	broad.mit.edu	37	2	241570136	241570136	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:241570136G>A	ENST00000319838.5	+	6	1709	c.767G>A	c.(766-768)cGc>cAc	p.R256H	GPR35_ENST00000430267.1_Missense_Mutation_p.R256H|GPR35_ENST00000438013.2_Missense_Mutation_p.R287H|GPR35_ENST00000407714.1_Missense_Mutation_p.R256H|GPR35_ENST00000403859.1_Missense_Mutation_p.R256H	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	256						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		ACGATCCGTCGCGCCCTGTAC	0.622000													124	145					0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201982319	201982319	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:201982319G>A	ENST00000359651.3	+	6	3890	c.698G>A	c.(697-699)cGt>cAt	p.R233H	ELF3_ENST00000367284.5_Missense_Mutation_p.R233H|ELF3_ENST00000367283.3_Missense_Mutation_p.R233H|RP11-510N19.5_ENST00000504773.1_RNA			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	233					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GATGGTTTTCGTGACTGCAAG	0.597000													44	58					0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67289369	67289369	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67289369G>A	ENST00000299798.11	+	4	793	c.728G>A	c.(727-729)gGa>gAa	p.G243E	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	243					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TACCTGAAGGGAGTCGGTCAG	0.587000													56	60					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140706066	140706066	+	Splice_Site	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:140706066G>A	ENST00000460843.1	+	19	2893	c.2867_splice	c.e19+1	p.V956_splice		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	956					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CGACTGTGTCGTGTGAGTGCA	0.642000													41	50					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94512531	94512531	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:94512531G>A	ENST00000370225.3	-	19	2948	c.2862C>T	c.(2860-2862)taC>taT	p.Y954Y	ABCA4_ENST00000535735.1_Silent_p.Y880Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	954	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCTGGTTCTCGTAGAAGGTGA	0.552000													123	186					0	0	1	0	0
LPAL2	0	broad.mit.edu	37	6	160888579	160888579	+	RNA	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:160888579G>A	ENST00000335388.5	-	0	1677					NR_028092.1															large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TTACTTGTTCGGAAGGAGCCT	0.507000													33	18					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169364358	169364358	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:169364358C>T	ENST00000545005.1	-	7	1961	c.1454G>A	c.(1453-1455)cGt>cAt	p.R485H	CCDC181_ENST00000367806.3_Missense_Mutation_p.R486H|BLZF1_ENST00000329281.2_Intron|CCDC181_ENST00000367805.3_Missense_Mutation_p.R485H					coiled-coil domain containing 181																		CTGTTTAGAACGCTTAGCTTC	0.398000													39	58					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2428525	2428525	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:2428525G>A	ENST00000452833.1	-	20	2956	c.2948C>T	c.(2947-2949)aCg>aTg	p.T983M	TRPM5_ENST00000528453.1_Missense_Mutation_p.T981M|TRPM5_ENST00000155858.6_Missense_Mutation_p.T981M|TRPM5_ENST00000533060.1_Missense_Mutation_p.T981M|AC124057.5_ENST00000433035.1_RNA			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	981						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CACCTGGAACGTGTAGCTGCA	0.642000													18	15					0	0	1	0	0
CROCCP2	0	broad.mit.edu	37	1	16957459	16957459	+	RNA	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:16957459G>A	ENST00000412962.1	-	0	219																											TGAGCAGGCCGGGGAGGGGCC	0.701000													4	5					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220791991	220791991	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:220791991G>A	ENST00000402574.1	+	9	1400	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	MARK1_ENST00000366917.4_Missense_Mutation_p.R268Q|MARK1_ENST00000366918.4_Missense_Mutation_p.R246Q	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	268	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CTGCGAGAGCGAGTTTTACGA	0.353000													31	72					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73461953	73461953	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:73461953G>A	ENST00000224721.6	+	22	2592	c.2587G>A	c.(2587-2589)Gtc>Atc	p.V863I	CDH23_ENST00000299366.7_Missense_Mutation_p.V903I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	858	Cadherin 8.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAAAATCGTCGTCTCTGTTAC	0.657000													40	178					0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176025905	176025905	+	Nonsense_Mutation	SNP	C	C	A	rs147380779	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:176025905C>A	ENST00000303991.4	-	2	1108	c.931G>T	c.(931-933)Gga>Tga	p.G311*		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	311						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGTCTTTCCTGTGGACGCA	0.572000													64	115					6.75472e-32	6.96707e-32	1	1	0
FGD2	221472	broad.mit.edu	37	6	36978766	36978766	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:36978766C>T	ENST00000274963.8	+	3	489	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	106	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGAAGAAGATCGTCCAGGAGC	0.612000													12	72					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													5	73					0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242148714	242148714	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:242148714C>T	ENST00000274979.8	+	12	1357	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	ANO7_ENST00000402430.3_Silent_p.F417F	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	418						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCCGGCTGTTCGACCACGGCG	0.647000													4	12					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60503309	60503309	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60503309C>T	ENST00000360469.5	+	12	1921	c.1833C>T	c.(1831-1833)aaC>aaT	p.N611N	CDH4_ENST00000543233.1_Silent_p.N537N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	611	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCAACGACAACGCCCCTGAGC	0.627000													82	354					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126216983	126216983	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:126216983C>T	ENST00000290868.2	-	14	1402	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	UROC1_ENST00000383579.3_Missense_Mutation_p.R510H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	450			R -> C (in UROD; loss of activity).		histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GCACACCCAGCGGAAAGGCCC	0.627000													12	360					0	0	1	0	0
INSC	387755	broad.mit.edu	37	11	15197574	15197574	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:15197574G>A	ENST00000379554.3	+	3	531	c.485G>A	c.(484-486)cGc>cAc	p.R162H	INSC_ENST00000379556.3_Missense_Mutation_p.R115H|INSC_ENST00000530161.1_Missense_Mutation_p.R115H|INSC_ENST00000424273.1_Missense_Mutation_p.R115H|INSC_ENST00000525218.1_Missense_Mutation_p.R115H|INSC_ENST00000528567.1_Missense_Mutation_p.R115H	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	162					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TGCCATGCCCGCTCCATGGTC	0.622000													6	10					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49445202	49445202	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49445202C>T	ENST00000301067.7	-	10	2263	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CTCCTCAGGCCGGGGGGACAG	0.687000													42	73					0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116811427	116811427	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:116811427C>T	ENST00000288466.7	+	14	1665	c.1566C>T	c.(1564-1566)taC>taT	p.Y522Y	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Silent_p.Y615Y	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GGACAGTGTACGTGACGGATT	0.612000													27	195					0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89614459	89614459	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:89614459G>A	ENST00000268704.2	+	12	1616	c.1601G>A	c.(1600-1602)cGg>cAg	p.R534Q		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	534					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CACGCGGCGCGGGAGGGACAC	0.642000													49	221					0	0	1	0	0
TSPAN15	23555	broad.mit.edu	37	10	71258152	71258152	+	Splice_Site	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:71258152G>A	ENST00000373290.2	+	5	692	c.570_splice	c.e5+1	p.T190_splice	TSPAN15_ENST00000459981.1_3'UTR	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	190						integral to plasma membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						TCAGGAACACGGTAGACACTG	0.587000													29	43					0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	32000374	32000374	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:32000374C>T	ENST00000432498.1	+	18	2261	c.1868C>T	c.(1867-1869)gCg>gTg	p.A623V	SFI1_ENST00000414585.1_Missense_Mutation_p.A501V|SFI1_ENST00000443011.1_Missense_Mutation_p.A501V|SFI1_ENST00000443326.1_Missense_Mutation_p.A572V|SFI1_ENST00000400288.2_Missense_Mutation_p.A654V|SFI1_ENST00000400289.1_Missense_Mutation_p.A572V|SFI1_ENST00000540643.1_Missense_Mutation_p.A599V	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	654					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CTGCACAGGGCGCTGCAGGCA	0.602000											OREG0003526	type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	3	7					0	0	1	0	0
GPR20	2843	broad.mit.edu	37	8	142367203	142367203	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:142367203G>A	ENST00000377741.3	-	2	911	c.821C>T	c.(820-822)aCg>aTg	p.T274M		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	274						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CACGAGGCTCGTGTGGTGTGG	0.637000													11	45					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925272	67925272	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:67925272G>A	ENST00000304363.4	-	11	2894	c.2541C>T	c.(2539-2541)gaC>gaT	p.D847D		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	847					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GAATAAAATCGTCTTCAAAGT	0.403000													39	43					0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186645692	186645692	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:186645692G>A	ENST00000367468.5	-	7	1013	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	293					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	TTGTGTTCCCGCAGCCAGATT	0.507000													70	95					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8188415	8188415	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:8188415C>T	ENST00000600128.1	-	24	3429	c.3015G>A	c.(3013-3015)acG>acA	p.T1005T	FBN3_ENST00000270509.2_Silent_p.T1005T|FBN3_ENST00000601739.1_Silent_p.T1005T			Q75N90	FBN3_HUMAN	fibrillin 3	1005	EGF-like 12; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGCTGCCCACCGTGTTTCTGC	0.607000													40	35					0	0	1	0	0
TLX2	3196	broad.mit.edu	37	2	74742798	74742798	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:74742798C>A	ENST00000233638.7	+	2	762	c.439C>A	c.(439-441)Cac>Aac	p.H147N		NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	147						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|ovary(1)	2						CCGCATAGGCCACCCCTACCA	0.652000													36	116					4.14481e-20	4.26872e-20	1	1	0
SLC25A31	83447	broad.mit.edu	37	4	128651877	128651877	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:128651877C>T	ENST00000281154.4	+	1	345	c.177C>T	c.(175-177)ccC>ccT	p.P59P		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	59					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						AGATCAGCCCCGAGGCGCGGT	0.701000													37	50					0	0	1	0	0
PIDD	55367	broad.mit.edu	37	11	800359	800359	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:800359G>A	ENST00000347755.5	-	13	2275	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W	PIDD_ENST00000411829.2_Intron	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	712					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										TGAGCCTCCCGGTCCAGAGTG	0.632000													36	81					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92568224	92568224	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:92568224G>A	ENST00000298047.6	+	14	10077	c.10060G>A	c.(10060-10062)Gcc>Acc	p.A3354T	FAT3_ENST00000525166.1_Missense_Mutation_p.A3204T|FAT3_ENST00000409404.2_Missense_Mutation_p.A3354T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3354	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGTGAAGACGCCTTGGTGGG	0.483000										TCGA Ovarian(4;0.039)			3	33					0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61288352	61288352	+	Silent	SNP	G	G	A	rs147575435	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:61288352G>A	ENST00000217159.1	+	2	751	c.546G>A	c.(544-546)acG>acA	p.T182T	SLCO4A1_ENST00000370507.1_Silent_p.T182T	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	182					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TTATGGGCACGGGGTCGCTGG	0.687000													13	103					0	0	1	0	0
SOAT1	6646	broad.mit.edu	37	1	179310292	179310292	+	Silent	SNP	C	C	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:179310292C>G	ENST00000367619.3	+	7	770	c.627C>G	c.(625-627)ggC>ggG	p.G209G	SOAT1_ENST00000540564.1_Silent_p.G151G|SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000539888.1_Silent_p.G144G	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	209					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GGGCCACTGGCTATAGCAAGA	0.428000													98	183					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779958	36779958	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:36779958C>T	ENST00000416516.2	-	2	683	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	65						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTGCAACTTCGCTGCAGCTC	0.612000													180	45					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6588894	6588894	+	Splice_Site	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:6588894G>A	ENST00000285599.3	+	4	599	c.564_splice	c.e4+1	p.R188_splice	MAN2B2_ENST00000504248.1_Splice_Site_p.R188_splice	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	188					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CAGGAGGCCCGGGTGAGTGGT	0.642000													22	42					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27445714	27445714	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:27445714G>A	ENST00000337929.3	+	3	569	c.96G>A	c.(94-96)acG>acA	p.T32T	IL21R_ENST00000564089.1_Silent_p.T32T|IL21R_ENST00000395755.1_Silent_p.T32T|IL21R_ENST00000395754.4_Silent_p.T32T	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	32					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						ACCTCCAGACGGTCATCTGCA	0.632000			T	BCL6	NHL								46	43					0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185724474	185724474	+	Splice_Site	SNP	C	C	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:185724474C>A	ENST00000515030.1	-	2	520	c.195_splice	c.e2+1	p.A65_splice	ACSL1_ENST00000454703.2_Intron|ACSL1_ENST00000437665.3_5'UTR|ACSL1_ENST00000504900.1_Splice_Site_p.A65_splice|ACSL1_ENST00000281455.2_Splice_Site_p.A65_splice|ACSL1_ENST00000507295.1_Splice_Site_p.A65_splice|ACSL1_ENST00000513317.1_Splice_Site_p.A65_splice|ACSL1_ENST00000504342.1_Splice_Site_p.A65_splice			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	65					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTCCACTCACCGCCACTTCCA	0.557000													12	15					7.03913e-09	7.17449e-09	1	1	0
TSG101	7251	broad.mit.edu	37	11	18503252	18503252	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:18503252G>A	ENST00000536719.1	-	9	1142	c.1008C>T	c.(1006-1008)aaC>aaT	p.N336N	TSG101_ENST00000357193.3_Silent_p.N231N|TSG101_ENST00000251968.3_Silent_p.N336N			Q99816	TS101_HUMAN	tumor susceptibility 101	336	SB.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTTCAATAGCGTTTTCTTCTG	0.388000													36	58					0	0	1	0	0
ZGLP1	100125288	broad.mit.edu	37	19	10419252	10419252	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:10419252G>A	ENST00000403903.3	-	1	1304	c.106C>T	c.(106-108)Cgt>Tgt	p.R36C	CTD-2369P2.10_ENST00000452032.2_Intron|FDX1L_ENST00000541276.1_Intron|ZGLP1_ENST00000403352.1_Intron	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	36					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						GTGGGGTCACGTTTTCTTGGG	0.617000													12	23					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484733	43484733	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:43484733C>T	ENST00000395891.1	+	11	2567	c.1962C>T	c.(1960-1962)acC>acT	p.T654T	HECW1_ENST00000453890.1_Silent_p.T654T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	654					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACCCCAGCACCGGGAGCGAGA	0.716000													33	47					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32739001	32739001	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:32739001C>T	ENST00000265074.8	+	3	1267	c.924C>T	c.(922-924)caC>caT	p.H308H	NPR3_ENST00000415685.2_Silent_p.H92H|NPR3_ENST00000434067.2_Silent_p.H92H|NPR3_ENST00000415167.2_Silent_p.H308H	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	308					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	p.H308H(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GAGACAAACACGACTTTGAAG	0.428000													49	90					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79793824	79793824	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:79793824G>A	ENST00000335016.5	+	13	1831	c.1665G>A	c.(1663-1665)ccG>ccA	p.P555P	BMP2K_ENST00000502871.1_Silent_p.P555P	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	555	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AACATCAGCCGTCTCAACAAC	0.443000													36	63					0	0	1	0	0
MSX1	4487	broad.mit.edu	37	4	4864532	4864532	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:4864532C>T	ENST00000382723.4	+	2	808	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	186					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCGCAAGTTCCGCCAGAAGCA	0.657000													11	168					0	0	1	0	0
STAP1	26228	broad.mit.edu	37	4	68447189	68447189	+	Splice_Site	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:68447189C>T	ENST00000265404.2	+	5	612	c.530_splice	c.e5+1	p.A177_splice	STAP1_ENST00000396225.1_Splice_Site_p.A177_splice	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	177	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						CCTATGCCAGCGTAAGTGCAC	0.393000													56	131					0	0	1	0	0
USP20	0	broad.mit.edu	37	9	132631191	132631191	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:132631191G>A	ENST00000315480.4	+	12	1344	c.1186G>A	c.(1186-1188)Gtc>Atc	p.V396I	USP20_ENST00000372429.3_Missense_Mutation_p.V396I|USP20_ENST00000358355.1_Missense_Mutation_p.V396I			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	396					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CTGCAGCCCCGTCCACCACCA	0.672000													15	96					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110915913	110915913	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:110915913G>T	ENST00000265171.5	+	20	3327	c.2882G>T	c.(2881-2883)aGg>aTg	p.R961M	EGF_ENST00000509793.1_Missense_Mutation_p.R919M|EGF_ENST00000503392.1_Missense_Mutation_p.R920M	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	961					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CCTCACCTCAGGGAAGATGAC	0.428000													35	152					1.90571e-15	1.95683e-15	1	1	0
PTK7	0	broad.mit.edu	37	6	43044258	43044258	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:43044258C>A	ENST00000230419.4	+	1	253	c.32C>A	c.(31-33)cCc>cAc	p.P11H	PTK7_ENST00000476760.1_Missense_Mutation_p.P11H|PTK7_ENST00000471863.1_Missense_Mutation_p.P11H|PTK7_ENST00000352931.2_Missense_Mutation_p.P11H|PTK7_ENST00000349241.2_Missense_Mutation_p.P11H|PTK7_ENST00000345201.2_Missense_Mutation_p.P11H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	11					actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCGGCCAGACCCCGCCGGTTG	0.736000													19	9					1.15919e-05	1.1728e-05	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34180250	34180250	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:34180250C>T	ENST00000373381.4	-	21	3519	c.3343G>A	c.(3343-3345)Gcc>Acc	p.A1115T		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1075	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGATGCGGGCGGTGCCCTCC	0.632000													136	245					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49445921	49445921	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49445921C>T	ENST00000301067.7	-	10	1544	c.1545G>A	c.(1543-1545)ctG>ctA	p.L515L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GCGACTCCTCCAGTGGAGAAA	0.617000													38	67					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55493635	55493635	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55493635A>T	ENST00000543010.1	+	6	712	c.569A>T	c.(568-570)aAg>aTg	p.K190M	NLRP2_ENST00000538819.1_Missense_Mutation_p.K166M|NLRP2_ENST00000391721.4_Missense_Mutation_p.K166M|NLRP2_ENST00000427260.2_Missense_Mutation_p.K167M|NLRP2_ENST00000448584.2_Missense_Mutation_p.K190M|NLRP2_ENST00000339757.7_Missense_Mutation_p.K168M|NLRP2_ENST00000263437.6_Missense_Mutation_p.K187M|NLRP2_ENST00000537859.1_Missense_Mutation_p.K168M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	190					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAGAGATACAAGATGCTGATC	0.542000													56	168					0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64532975	64532975	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:64532975G>A	ENST00000377387.1	-	13	2049	c.1973C>T	c.(1972-1974)gCg>gTg	p.A658V	SF1_ENST00000377390.3_3'UTR|SF1_ENST00000227503.9_Missense_Mutation_p.A533V|SF1_ENST00000334944.5_Silent_p.G601G|SF1_ENST00000377394.3_Silent_p.G534G|SF1_ENST00000422298.2_Missense_Mutation_p.A418V	NM_001178030.1	NP_001171501.1	Q15637	SF01_HUMAN	splicing factor 1	533					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGCCATCGCCGCCGCGGGGAG	0.637000													123	117					0	0	1	0	0
IBA57	200205	broad.mit.edu	37	1	228362946	228362946	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:228362946G>A	ENST00000366711.3	+	3	805	c.803G>A	c.(802-804)cGc>cAc	p.R268H	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_Missense_Mutation_p.R75H	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	268					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CTGACGGCCCGCACCCACCAC	0.647000													24	168					0	0	1	0	0
SSMEM1	136263	broad.mit.edu	37	7	129856218	129856218	+	Nonsense_Mutation	SNP	C	C	T	rs146470357		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:129856218C>T	ENST00000297819.3	+	3	694	c.643C>T	c.(643-645)Cga>Tga	p.R215*		NM_145268.3	NP_660311.1			serine-rich single-pass membrane protein 1									p.R215R(1)									GCACCATTCCCGACAGAAGCC	0.438000													119	192					0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73013863	73013863	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:73013863C>T	ENST00000313375.3	-	8	1111	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H	MLXIPL_ENST00000434326.1_Missense_Mutation_p.R262H|MLXIPL_ENST00000395189.1_Missense_Mutation_p.R262H|MLXIPL_ENST00000429400.2_Missense_Mutation_p.R355H|MLXIPL_ENST00000414749.2_Missense_Mutation_p.R355H|MLXIPL_ENST00000354613.1_Missense_Mutation_p.R355H	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	355					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CACCTGCAGACGGCTGTGTCC	0.632000													47	90					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21114452	21114452	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:21114452G>A	ENST00000269228.5	-	23	4103	c.3549C>T	c.(3547-3549)cgC>cgT	p.R1183R	NPC1_ENST00000412552.2_Silent_p.R865R	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1183					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGCGCTCCACGCGGCTGCCTT	0.587000													26	19					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105184818	105184818	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105184818G>A	ENST00000369797.3	+	20	2935	c.2841G>A	c.(2839-2841)acG>acA	p.T947T	PDCD11_ENST00000490787.1_3'UTR	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	947					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGGTAGAGACGGGCCACCTGG	0.547000													25	102					0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58967425	58967425	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:58967425G>A	ENST00000391696.1	+	3	2016	c.1084G>A	c.(1084-1086)Gca>Aca	p.A362T	ZNF324B_ENST00000336614.4_Missense_Mutation_p.A372T|ZNF324B_ENST00000545523.1_Missense_Mutation_p.A372T			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TTATGCTTGCGCACAGTGTGG	0.657000													4	54					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6202326	6202326	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6202326G>A	ENST00000262450.3	-	15	2397	c.2298C>T	c.(2296-2298)cgC>cgT	p.R766R	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	766	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCTCAAACTCGCGTTCCCAGT	0.607000													69	106					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11711063	11711063	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:11711063G>A	ENST00000262442.3	+	44	8503	c.8435G>A	c.(8434-8436)cGc>cAc	p.R2812H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2812H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2812	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CATATCAATCGCATCTTGGAG	0.532000													8	111					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5423406	5423406	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:5423406C>T	ENST00000341928.2	-	11	1650	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	EPB41L3_ENST00000342933.3_Missense_Mutation_p.R437H|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R437H|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R437H|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R437H	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	437	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CATGGTATAACGTTTGCTGGA	0.478000													32	26					0	0	1	0	0
NR2C2	7182	broad.mit.edu	37	3	15065637	15065637	+	Silent	SNP	T	T	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:15065637T>A	ENST00000425241.1	+	7	1082	c.720T>A	c.(718-720)ctT>ctA	p.L240L	NR2C2_ENST00000323373.6_Silent_p.L259L|NR2C2_ENST00000393102.3_Silent_p.L240L|NR2C2_ENST00000406272.2_Silent_p.L240L			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	240					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGGTCTTCTTGATCCAGGGA	0.438000													31	91					0	0	1	0	0
TSSK6	83983	broad.mit.edu	37	19	19625703	19625703	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:19625703C>T	ENST00000360913.3	-	1	1135	c.534G>A	c.(532-534)gcG>gcA	p.A178A	TSSK6_ENST00000585580.3_Silent_p.A178A			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	178	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						CCTCGGGTGACGCGTAGGCGG	0.662000													8	48					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151850067	151850067	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:151850067G>A	ENST00000535741.1	-	3	840	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	LRBA_ENST00000510413.1_Missense_Mutation_p.R123W|LRBA_ENST00000357115.3_Missense_Mutation_p.R123W|LRBA_ENST00000507224.1_Missense_Mutation_p.R123W			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	123						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGAAGATTCCGTATGCTTTTC	0.388000													33	144					0	0	1	0	0
SNCB	6620	broad.mit.edu	37	5	176056600	176056600	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:176056600G>A	ENST00000310112.3	-	3	306	c.56C>T	c.(55-57)gCg>gTg	p.A19V	SNCB_ENST00000510387.1_Missense_Mutation_p.A19V|SNCB_ENST00000506696.1_Missense_Mutation_p.A19V|SNCB_ENST00000393693.2_Missense_Mutation_p.A19V	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	19							calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTTTTCTCCGCGGCTGCCAC	0.677000													11	52					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105354097	105354097	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:105354097G>A	ENST00000453495.1	+	12	3752	c.3524G>A	c.(3523-3525)cGg>cAg	p.R1175Q	CEP170B_ENST00000414716.3_Missense_Mutation_p.R1174Q|CEP170B_ENST00000418279.1_Missense_Mutation_p.R1104Q|CEP170B_ENST00000556508.1_Missense_Mutation_p.R1104Q					centrosomal protein 170B																		GCCATGCCCCGGAAGCGGGCC	0.697000													4	8					0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48157736	48157736	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:48157736C>T	ENST00000320031.8	+	22	3147	c.2817C>T	c.(2815-2817)atC>atT	p.I939I	ITGA3_ENST00000007722.7_Silent_p.I939I	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	939					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GCACCTTCATCGAGGTCAGTG	0.602000													11	30					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62715345	62715345	+	Silent	SNP	T	T	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:62715345T>C	ENST00000280377.5	+	5	634	c.576T>C	c.(574-576)aaT>aaC	p.N192N	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Silent_p.N192N|USP15_ENST00000393654.3_Silent_p.N192N|USP15_ENST00000312635.6_Silent_p.N192N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	192					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AACCACTGAATAAACCAGACA	0.333000													24	33					0	0	1	0	0
CLIC3	9022	broad.mit.edu	37	9	139889178	139889178	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:139889178G>A	ENST00000494426.1	-	6	925	c.666C>T	c.(664-666)agC>agT	p.S222S	CLIC3_ENST00000480181.1_5'UTR	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	chloride intracellular channel 3	222	GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	protein binding|voltage-gated chloride channel activity			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGATCTCGGCGCTGTGCGGAC	0.677000													21	24					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136481617	136481617	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:136481617C>T	ENST00000264160.4	+	26	3425	c.3055C>T	c.(3055-3057)Cgg>Tgg	p.R1019W	R3HDM1_ENST00000410054.1_Missense_Mutation_p.R964W|R3HDM1_ENST00000409606.1_Missense_Mutation_p.R1020W|R3HDM1_ENST00000329971.3_Missense_Mutation_p.R890W|R3HDM1_ENST00000409478.1_Missense_Mutation_p.R891W	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	1019							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCGGTGGCTCCGGGACCCCCA	0.542000													93	80					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163946	141163946	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:141163946G>A	ENST00000514251.1	+	4	2995	c.2716G>A	c.(2716-2718)Gca>Aca	p.A906T	ZBTB38_ENST00000441582.2_Missense_Mutation_p.A906T|ZBTB38_ENST00000321464.5_Missense_Mutation_p.A907T			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	906					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTTCGATGACGCAAGTGACCA	0.502000													44	17					0	0	1	0	0
ABCF1	23	broad.mit.edu	37	6	30552327	30552327	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:30552327C>T	ENST00000326195.8	+	14	1487	c.1375C>T	c.(1375-1377)Cgt>Tgt	p.R459C	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.R421C	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	459	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CTGGCGCATGCGTGTCTCCCT	0.612000													38	34					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123473364	123473364	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:123473364G>A	ENST00000280562.5	-	18	2974	c.2769C>T	c.(2767-2769)gaC>gaT	p.D923D	PITPNM2_ENST00000392428.1_Silent_p.D650D|PITPNM2_ENST00000542749.1_Silent_p.D929D|PITPNM2_ENST00000320201.4_Silent_p.D929D			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	860	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCGTGAGGGCGTCAGGGCAGT	0.642000													6	15					0	0	1	0	0
ZNF691	51058	broad.mit.edu	37	1	43317024	43317024	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:43317024G>A	ENST00000372504.1	+	5	811	c.461G>A	c.(460-462)cGg>cAg	p.R154Q	ZNF691_ENST00000372508.3_Missense_Mutation_p.R132Q|ZNF691_ENST00000397044.3_Missense_Mutation_p.R163Q|ZNF691_ENST00000372502.1_Missense_Mutation_p.R154Q|ZNF691_ENST00000372507.1_Missense_Mutation_p.R132Q|ZNF691_ENST00000372506.1_Missense_Mutation_p.R132Q			Q5VV52	ZN691_HUMAN	zinc finger protein 691	163						nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGCACGAGCGGATCCACCTG	0.562000													40	62					0	0	1	0	0
MCCC1	56922	broad.mit.edu	37	3	182740306	182740306	+	Missense_Mutation	SNP	A	A	G	rs143892743		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:182740306A>G	ENST00000492597.1	-	15	2143	c.1441T>C	c.(1441-1443)Tac>Cac	p.Y481H	MCCC1_ENST00000265594.4_Missense_Mutation_p.Y590H|MCCC1_ENST00000489909.1_5'UTR|MCCC1_ENST00000539926.1_3'UTR			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	590	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CCCTCGCTGTAAAGATTACCA	0.313000													15	57					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145534934	145534934	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:145534934C>T	ENST00000369304.3	+	15	2012	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*	ITGA10_ENST00000538811.1_Nonsense_Mutation_p.R482*|ITGA10_ENST00000539363.1_Nonsense_Mutation_p.R470*	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	613					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTACTTTGGCCGAAGTGTGGA	0.582000													39	194					0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27135248	27135248	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:27135248C>T	ENST00000343060.4	-	1	345	c.284G>A	c.(283-285)tGt>tAt	p.C95Y	HOXA1_ENST00000355633.5_Missense_Mutation_p.C95Y	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	95						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCTTGGACCACAACTTGAGTG	0.612000											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	29	149					0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133780652	133780652	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:133780652C>T	ENST00000372338.4	-	6	1337	c.1095G>A	c.(1093-1095)ccG>ccA	p.P365P	FIBCD1_ENST00000372337.2_Silent_p.P207P|FIBCD1_ENST00000448616.1_Silent_p.P365P|FIBCD1_ENST00000253018.4_Intron	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	365	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CCACGGTGAGCGGGTACCCGT	0.657000													15	46					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607751	84607751	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:84607751C>T	ENST00000344803.2	+	4	2413	c.2366C>T	c.(2365-2367)cCg>cTg	p.P789L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TTGCATGGTCCGGAGACTTCT	0.478000													47	88					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220334066	220334066	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:220334066G>A	ENST00000312358.7	+	13	3812	c.3680G>A	c.(3679-3681)cGc>cAc	p.R1227H	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1227	Ig-like 6.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AATGGCCACCGCATCCAGAGC	0.642000													36	37					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179412628	179412628	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179412628C>T	ENST00000589042.1	-	339	93949	c.93725G>A	c.(93724-93726)cGt>cAt	p.R31242H	TTN_ENST00000342992.6_Missense_Mutation_p.R28674H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R22177H|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22369H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22302H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R29601H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29601	Fibronectin type-III 127.						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)			GGGGGCAGGACGACCACTGAT	0.448000													26	47					0	0	1	0	0
ZNF416	55659	broad.mit.edu	37	19	58084870	58084870	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:58084870C>T	ENST00000196489.3	-	4	624	c.402G>A	c.(400-402)gcG>gcA	p.A134A		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GGTGAAAGACCGCACATGCCC	0.502000													14	51					0	0	1	0	0
ANKMY1	51281	broad.mit.edu	37	2	241468876	241468876	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:241468876G>A	ENST00000391987.1	-	5	630	c.264C>T	c.(262-264)ccC>ccT	p.P88P	ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000401804.1_Silent_p.P177P|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000272972.3_Silent_p.P88P			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	88							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGCTGCCATCGGGGTAGGTCT	0.602000													27	50					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175097740	175097740	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:175097740G>A	ENST00000239462.4	+	15	3301	c.3188G>A	c.(3187-3189)cGt>cAt	p.R1063H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1063	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTTGGTGCCCGTTTCCCACAC	0.527000													37	141					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77662039	77662039	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:77662039C>T	ENST00000296043.6	+	5	3666	c.2713C>T	c.(2713-2715)Cgg>Tgg	p.R905W		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	905					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCCCGAGTGGCGGGACAGGCC	0.711000													11	19					0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46739410	46739410	+	Missense_Mutation	SNP	G	G	A	rs144207599	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:46739410G>A	ENST00000371975.4	+	14	2275	c.1601G>A	c.(1600-1602)cGt>cAt	p.R534H	RAD54L_ENST00000442598.1_Missense_Mutation_p.R534H|RAD54L_ENST00000488942.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	534	Helicase C-terminal.		R -> C (in dbSNP:rs28363240).		meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AAGCTGTGCCGTGCCCGAAGG	0.512000								Direct reversal of damage;Homologous recombination					7	13					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247021040	247021040	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:247021040C>T	ENST00000366508.1	-	30	4450	c.4314G>A	c.(4312-4314)ccG>ccA	p.P1438P	AHCTF1_ENST00000391829.2_Silent_p.P1403P|AHCTF1_ENST00000326225.3_Silent_p.P1412P|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1403	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCCTTGAACCGGGCTTAAGT	0.343000													4	69					0	0	1	0	0
CSTF3	1479	broad.mit.edu	37	11	33120307	33120307	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:33120307G>A	ENST00000323959.4	-	13	1196	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	353					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TACTTCATGCGACTCTAAGGT	0.393000													28	112					0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6261503	6261503	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:6261503G>A	ENST00000379936.2	+	4	594	c.479G>A	c.(478-480)cGc>cAc	p.R160H	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	160					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGAGACCCGCACAGCTTAC	0.587000													6	178					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151829999	151829999	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:151829999T>G	ENST00000535741.1	-	10	1645	c.1172A>C	c.(1171-1173)aAa>aCa	p.K391T	LRBA_ENST00000510413.1_Missense_Mutation_p.K391T|LRBA_ENST00000357115.3_Missense_Mutation_p.K391T|LRBA_ENST00000507224.1_Missense_Mutation_p.K391T			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	391						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGCTTTGAATTTAAATGTACC	0.363000													19	64					0	0	1	0	0
AGO2	27161	broad.mit.edu	37	8	141595388	141595388	+	Silent	SNP	C	C	T	rs141930048	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:141595388C>T	ENST00000220592.5	-	2	157	c.45G>A	c.(43-45)ccG>ccA	p.P15P	AGO2_ENST00000517293.1_5'UTR|AGO2_ENST00000519980.1_Silent_p.P15P	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		GGATGGGGGGCGGCGGCGCAG	0.592000													30	62					0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58259033	58259033	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:58259033C>T	ENST00000300896.4	-	32	4394	c.4200G>A	c.(4198-4200)cgG>cgA	p.R1400R	USP32_ENST00000592339.1_Silent_p.R1070R	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1400					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCCCCAAAGTCCGTGGGCTGC	0.483000													16	56					0	0	1	0	0
LINC00477	0	broad.mit.edu	37	12	24736338	24736338	+	RNA	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:24736338C>T	ENST00000483544.1	-	0	764					NR_029451.2																						GCACCCTTTGCGAGGGGCACG	0.557000													15	43					0	0	1	0	0
CPNE3	8895	broad.mit.edu	37	8	87559941	87559941	+	Silent	SNP	T	T	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:87559941T>C	ENST00000521271.1	+	11	984	c.822T>C	c.(820-822)atT>atC	p.I274I	CPNE3_ENST00000198765.4_Silent_p.I274I	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	274					lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						ATTTTTAGATTACAGTAGAAT	0.308000													7	10					0	0	1	0	0
RP11-383M4.6	0	broad.mit.edu	37	9	84547989	84547989	+	RNA	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:84547989C>T	ENST00000585776.1	-	0	1039				SPATA31D4_ENST00000341875.4_RNA																							GTCTCATAGACGAAGCACTTT	0.463000													32	50					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64536656	64536656	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:64536656C>T	ENST00000498707.1	-	31	5123	c.4781G>A	c.(4780-4782)cGc>cAc	p.R1594H	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1566H	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1594	TSP type-1 13.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CACGTCACAGCGTGCCCCATG	0.552000													156	64					0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242169651	242169651	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:242169651C>A	ENST00000391975.1	-	26	3735	c.3508G>T	c.(3508-3510)Gac>Tac	p.D1170Y	HDLBP_ENST00000427183.2_Missense_Mutation_p.D1137Y|HDLBP_ENST00000391976.2_Missense_Mutation_p.D1170Y|HDLBP_ENST00000310931.4_Missense_Mutation_p.D1170Y	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1170	KH 14.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CAGTTGGGGTCTGGGGCTCCG	0.557000													5	118					0.00198382	0.00199832	1	1	0
HTRA3	94031	broad.mit.edu	37	4	8293224	8293224	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:8293224G>A	ENST00000307358.2	+	4	1040	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	HTRA3_ENST00000382512.3_Missense_Mutation_p.R279Q	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	279	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						ACTGCCCAGCGGGAGGGCAGG	0.657000													38	37					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44838993	44838993	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:44838993G>A	ENST00000372262.3	-	6	1639	c.1239C>T	c.(1237-1239)gtC>gtT	p.V413V	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Silent_p.V413V	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	413	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCACCACGCCGACCAGGGAGC	0.771000													6	4					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94574157	94574157	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:94574157G>A	ENST00000370225.3	-	4	504	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	ABCA4_ENST00000535735.1_Missense_Mutation_p.R140W	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	140					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGTGAGTCCGGAGGGTGTCC	0.493000													6	150					0	0	1	0	0
TRADD	8717	broad.mit.edu	37	16	67188655	67188655	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67188655C>T	ENST00000345057.4	-	5	1304	c.836G>A	c.(835-837)cGc>cAc	p.R279H	TRADD_ENST00000486556.1_Missense_Mutation_p.R219H	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	279	Death.|Interaction with KRT14 and KRT18.				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CAGCGTGGCGCGGCGGCCCTC	0.706000													7	19					0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5786850	5786850	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:5786850C>T	ENST00000309061.7	-	9	1492	c.1396G>A	c.(1396-1398)Ggc>Agc	p.G466S	DUS3L_ENST00000320699.8_Missense_Mutation_p.G224S	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	466					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CGAGAGCGGCCGTGGAGCTGG	0.642000													11	20					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671678	31671678	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:31671678G>A	ENST00000375483.3	+	3	675	c.675G>A	c.(673-675)acG>acA	p.T225T		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	225	Gly-rich.					cytoplasm|extracellular region	lipid binding										AAGGCATCACGGGGTAAGGAG	0.627000													44	52					0	0	1	0	0
TCF7L1	83439	broad.mit.edu	37	2	85531438	85531438	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:85531438C>T	ENST00000282111.3	+	7	1097	c.822C>T	c.(820-822)ctC>ctT	p.L274L		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	274	Pro-rich.				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						ACCCCGCCCTCGCCATGAACG	0.592000													67	73					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12302045	12302045	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:12302045C>T	ENST00000261349.4	-	14	3113	c.3037G>A	c.(3037-3039)Gaa>Aaa	p.E1013K	LRP6_ENST00000543091.1_Missense_Mutation_p.E1013K	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1013	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGTTGTATTTCCAGGTTCTGA	0.438000													147	216					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6772867	6772867	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:6772867C>G	ENST00000304076.2	+	1	143	c.49C>G	c.(49-51)Ctg>Gtg	p.L17V	VAV1_ENST00000596764.1_Missense_Mutation_p.L17V|VAV1_ENST00000602142.1_Missense_Mutation_p.L17V	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	17	CH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GTGCCGGGTGCTGCCGCCCAG	0.677000													15	80					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70048984	70048984	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:70048984G>A	ENST00000330891.5	-	10	1936	c.1710C>T	c.(1708-1710)agC>agT	p.S570S	BEST3_ENST00000553096.1_Silent_p.S464S|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Silent_p.S357S	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	570						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TTTCCTCAGCGCTGGCTGAAA	0.557000													22	77					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494882	55494882	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55494882C>T	ENST00000543010.1	+	6	1959	c.1816C>T	c.(1816-1818)Ctc>Ttc	p.L606F	NLRP2_ENST00000538819.1_Missense_Mutation_p.L582F|NLRP2_ENST00000391721.4_Missense_Mutation_p.L582F|NLRP2_ENST00000427260.2_Missense_Mutation_p.L583F|NLRP2_ENST00000448584.2_Missense_Mutation_p.L606F|NLRP2_ENST00000339757.7_Missense_Mutation_p.L584F|NLRP2_ENST00000263437.6_Missense_Mutation_p.L603F|NLRP2_ENST00000537859.1_Missense_Mutation_p.L584F	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	606					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCAGGAGCTCCTCGGCTGTCT	0.517000													31	39					0	0	1	0	0
ALG14	199857	broad.mit.edu	37	1	95492780	95492780	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:95492780G>A	ENST00000370205.4	-	3	371	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W		NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	109					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		TGAACCTCCCGGCTTCTTGGA	0.453000													31	57					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85382932	85382932	+	Splice_Site	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:85382932G>A	ENST00000258888.5	+	5	1195		c.e5-1			NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3						heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCTACCTCTAGGTGTCGAGAA	0.647000													53	103					0	0	1	0	0
PSG8	0	broad.mit.edu	37	19	43259265	43259265	+	Missense_Mutation	SNP	C	C	T	rs113087470		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:43259265C>T	ENST00000404209.4	-	4	959	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.R166Q|PSG8_ENST00000401467.2_Missense_Mutation_p.R195Q|PSG8_ENST00000306511.4_Missense_Mutation_p.R288Q	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	288	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCAATGGGTCGCTTTACCCT	0.468000													63	213					0	0	1	0	0
RPUSD1	113000	broad.mit.edu	37	16	836114	836114	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:836114C>T	ENST00000561734.1	-	5	1018	c.775G>A	c.(775-777)Gac>Aac	p.D259N	RPUSD1_ENST00000007264.2_Missense_Mutation_p.D259N|RPUSD1_ENST00000567114.1_Missense_Mutation_p.D130N|RPUSD1_ENST00000565809.1_3'UTR			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	259	Pro-rich.				pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GGGTCAGGGTCGGGGGTGGCC	0.726000													51	38					0	0	1	0	0
TMEM14C	51522	broad.mit.edu	37	6	10725225	10725225	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:10725225G>A	ENST00000541412.1	+	3	437	c.52G>A	c.(52-54)Gca>Aca	p.A18T	TMEM14C_ENST00000467415.1_3'UTR|TMEM14C_ENST00000229563.5_Missense_Mutation_p.A18T	NM_001165258.1	NP_001158730.1	Q9P0S9	TM14C_HUMAN	transmembrane protein 14C	18					heme biosynthetic process	integral to membrane|mitochondrial membrane				large_intestine(2)|lung(3)	5	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)	Epithelial(50;0.246)			CTTTGGCTACGCAGCACTGGT	0.448000													87	278					0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	6990511	6990511	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:6990511G>A	ENST00000381309.3	+	12	2338	c.1773G>A	c.(1771-1773)gcG>gcA	p.A591A	KDM4C_ENST00000381306.3_Silent_p.A591A|KDM4C_ENST00000428870.2_Silent_p.A278A|KDM4C_ENST00000536108.1_Silent_p.A410A|KDM4C_ENST00000543771.1_Silent_p.A591A|KDM4C_ENST00000535193.1_Silent_p.A613A|KDM4C_ENST00000442236.2_Intron	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	591					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						AGCAGCAGGCGCCAAGTGATG	0.408000													5	31					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972726	92972726	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:92972726C>T	ENST00000523629.1	-	12	2013	c.1559G>A	c.(1558-1560)cGt>cAt	p.R520H	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R493H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R483H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R483H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R483H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R531H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R493H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R520H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	520					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R483H(2)|p.R520H(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ACTCGCTTTACGGCCACAATT	0.458000													23	39					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74153957	74153957	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:74153957C>T	ENST00000443185.2	-	3	1371	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCATTGTGGGCGTTCAAGCTG	0.657000													22	13					0	0	1	0	0
ZNF733P	0	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	33					0	0	1	0	0
PLAGL2	5326	broad.mit.edu	37	20	30789887	30789887	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:30789887C>T	ENST00000246229.4	-	2	359	c.95G>A	c.(94-96)cGg>cAg	p.R32Q		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	32						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTCCGCCTCCCGGCCCCGAGG	0.567000													30	111					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198671623	198671623	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:198671623C>T	ENST00000367376.2	+	6	712	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.R183C|PTPRC_ENST00000352140.3_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	181					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CTTACCTGCACGCACCTCCAA	0.498000													125	247					0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52569526	52569526	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:52569526C>T	ENST00000389534.4	-	7	2068	c.1609G>A	c.(1609-1611)Gga>Aga	p.G537R	ZNF841_ENST00000426391.2_Missense_Mutation_p.G421R|ZNF841_ENST00000594295.1_Missense_Mutation_p.G537R|ZNF841_ENST00000359973.2_Intron|ZNF432_ENST00000598446.1_Intron	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GGTTTCTCTCCGGTATGAATT	0.398000													10	25					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212350	26212350	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:26212350C>T	ENST00000379034.1	+	2	536	c.387C>T	c.(385-387)aaC>aaT	p.N129N		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	129	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGGCTGCCAACGGCCAAGATG	0.557000													78	18					0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8167651	8167651	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:8167651G>A	ENST00000314666.6	+	16	2046	c.1913G>A	c.(1912-1914)cGg>cAg	p.R638Q	PFAS_ENST00000545834.1_Missense_Mutation_p.R214Q	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	638					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AAGATGCCTCGGAAGGTATGT	0.622000													48	11					0	0	1	0	0
PARP10	84875	broad.mit.edu	37	8	145058234	145058234	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:145058234G>A	ENST00000313028.7	-	7	1813	c.1719C>T	c.(1717-1719)aaC>aaT	p.N573N	PARP10_ENST00000524918.1_Silent_p.N573N|PARP10_ENST00000525773.1_Silent_p.N585N	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	573						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGTGTGGGCGTTGCCAGGGA	0.662000													13	37					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21082106	21082106	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:21082106G>A	ENST00000255882.6	-	40	4815	c.4729C>T	c.(4729-4731)Cgg>Tgg	p.R1577W	PI4KA_ENST00000572273.1_Missense_Mutation_p.R1519W|PI4KA_ENST00000414196.3_Missense_Mutation_p.R329W	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1519					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGGTCCAACCGAACGAGACGG	0.547000													46	77					0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242815361	242815361	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:242815361G>A	ENST00000343216.3	+	2	1682	c.1654G>A	c.(1654-1656)Gtg>Atg	p.V552M		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	552						integral to membrane											GTCCATGACCGTGTGCGTCTT	0.662000													101	214					0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58605364	58605364	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:58605364C>T	ENST00000267485.7	-	2	907	c.713G>A	c.(712-714)gGt>gAt	p.G238D	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	238						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GGACTCAGCACCAGGAAAAGA	0.498000													57	32					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41159281	41159281	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:41159281G>A	ENST00000263413.3	-	12	2023	c.1759C>T	c.(1759-1761)Cga>Tga	p.R587*	C6_ENST00000337836.5_Nonsense_Mutation_p.R587*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	587	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTGCATTCTCGGGTTCTCGAT	0.493000													58	80					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126128637	126128637	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:126128637G>T	ENST00000373631.3	+	4	747	c.746G>T	c.(745-747)tGt>tTt	p.C249F	CRB2_ENST00000359999.3_Missense_Mutation_p.C249F	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	249	EGF-like 5.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGCTGCCTCTGTTGGCCAGGT	0.736000													13	23					4.7546e-09	4.85322e-09	1	1	0
CDH15	1013	broad.mit.edu	37	16	89256813	89256813	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:89256813C>T	ENST00000289746.2	+	8	1206	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	381	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GAACCCACTTCGGACCAGCCT	0.687000													6	27					0	0	1	0	0
NDE1	54820	broad.mit.edu	37	16	15758701	15758701	+	Silent	SNP	G	G	A	rs143820142		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:15758701G>A	ENST00000396355.1	+	3	892	c.66G>A	c.(64-66)gcG>gcA	p.A22A	NDE1_ENST00000396354.1_Silent_p.A22A|NDE1_ENST00000396353.2_Silent_p.A22A|NDE1_ENST00000342673.5_Silent_p.A22A	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	22	Self-association (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AAGATCTGGCGATGACCTACA	0.473000													90	80					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20846220	20846220	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:20846220G>A	ENST00000262715.5	-	39	5724	c.5684C>T	c.(5683-5685)gCg>gTg	p.A1895V	TEP1_ENST00000556935.1_Missense_Mutation_p.A1787V|TEP1_ENST00000545983.1_Missense_Mutation_p.A233V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1895					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTGGCAACCCGCATGCAGGAA	0.592000													91	34					0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205138721	205138721	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:205138721G>A	ENST00000367162.3	-	3	924	c.894C>T	c.(892-894)agC>agT	p.S298S	DSTYK_ENST00000367161.3_Silent_p.S298S|DSTYK_ENST00000367160.4_Silent_p.S298S	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	298						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GTGATCTTTCGCTCTCCATTC	0.483000													16	75					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65253771	65253771	+	Missense_Mutation	SNP	G	G	A	rs138556050		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:65253771G>A	ENST00000389722.3	-	15	2965	c.2912C>T	c.(2911-2913)aCg>aTg	p.T971M	SPTB_ENST00000542895.1_Missense_Mutation_p.T971M|SPTB_ENST00000389721.5_Missense_Mutation_p.T971M|SPTB_ENST00000389720.3_Missense_Mutation_p.T971M|SPTB_ENST00000556626.1_Missense_Mutation_p.T971M	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	971					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.T971M(2)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTCTTGTCCGTGATCCACTT	0.592000													42	10					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125804256	125804256	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:125804256G>A	ENST00000346248.5	-	3	1368	c.726C>T	c.(724-726)caC>caT	p.H242H	CHST15_ENST00000421115.1_Silent_p.H242H|CHST15_ENST00000435907.1_Silent_p.H242H	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	242					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCCCGTGCGCGTGCGCCAGGT	0.662000													15	25					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76558007	76558007	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:76558007G>A	ENST00000389840.5	-	12	1749	c.1625C>T	c.(1624-1626)gCg>gTg	p.A542V	DNAH17_ENST00000585328.1_Missense_Mutation_p.A542V					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATACCTGGGCGCCACCTCGGC	0.587000													60	9					0	0	1	0	0
PEX3	8504	broad.mit.edu	37	6	143793364	143793364	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:143793364G>A	ENST00000367591.4	+	8	709	c.646G>A	c.(646-648)Gtt>Att	p.V216I		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	216					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		CAGAAATCTCGTTGAGCAGCA	0.348000													38	18					0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120796752	120796752	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:120796752G>A	ENST00000369144.3	-	21	3925	c.3798C>T	c.(3796-3798)gaC>gaT	p.D1266D	EIF3A_ENST00000541549.1_Silent_p.D1232D|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1266	Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TATCCCTATCGTCCCGGCGAC	0.547000													36	136					0	0	1	0	0
OR5C1	392391	broad.mit.edu	37	9	125551233	125551233	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:125551233C>T	ENST00000373680.2	+	1	84	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						GAACCTCACCCGGGCCGCGGT	0.582000													30	139					0	0	1	0	0
IGHG4	0	broad.mit.edu	37	14	106092382	106092382	+	RNA	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:106092382C>T	ENST00000390543.2	-	0	21																											AGGGGGAAGACCGATGGGCCC	0.672000													29	6					0	0	1	0	0
GPR26	2849	broad.mit.edu	37	10	125426409	125426409	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:125426409G>A	ENST00000284674.1	+	1	539	c.486G>A	c.(484-486)cgG>cgA	p.R162R		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	162					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCAGCCGGCGGCCAGACGAGC	0.682000													19	20					0	0	1	0	0
IL18R1	8809	broad.mit.edu	37	2	103013337	103013337	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:103013337C>T	ENST00000409599.1	+	12	1973	c.1617C>T	c.(1615-1617)tcC>tcT	p.S539S	IL18R1_ENST00000233957.1_Silent_p.S539S			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	539					innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTGTTCTTTCCGAGTCTTAAT	0.413000													20	42					0	0	1	0	0
FAM73A	374986	broad.mit.edu	37	1	78280851	78280851	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:78280851G>A	ENST00000370791.3	+	7	862	c.830G>A	c.(829-831)cGt>cAt	p.R277H	FAM73A_ENST00000443751.2_Missense_Mutation_p.R239H	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	277						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		AGAGCCTATCGTCTCCAAGAG	0.368000													9	66					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584436	82584436	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:82584436G>A	ENST00000423517.2	-	5	6170	c.5833C>T	c.(5833-5835)Cct>Tct	p.P1945S	PCLO_ENST00000333891.8_Missense_Mutation_p.P1945S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1876					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCATACAAAGGCTCTTTTTCA	0.373000													13	67					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133214643	133214643	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:133214643G>A	ENST00000320574.5	-	41	5678	c.5635C>T	c.(5635-5637)Cgt>Tgt	p.R1879C	POLE_ENST00000535270.1_Missense_Mutation_p.R1852C|POLE_ENST00000434528.3_5'UTR	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1879					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCTTCCACACGGCGCTTCTTT	0.547000								DNA polymerases (catalytic subunits)					21	129					0	0	1	0	0
TRPV2	51393	broad.mit.edu	37	17	16336966	16336966	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:16336966G>A	ENST00000338560.7	+	13	2467	c.2068G>A	c.(2068-2070)Gtt>Att	p.V690I	TRPV2_ENST00000577397.1_Missense_Mutation_p.V260I	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	690					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GATGCTGACCGTTGGCACTAA	0.592000													39	145					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109383056	109383056	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:109383056G>A	ENST00000283195.6	+	20	6187	c.6061G>A	c.(6061-6063)Gaa>Aaa	p.E2021K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2021	RanBD1 2.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCAAATGCCCGAAAAAGTAGA	0.388000													325	373					0	0	1	0	0
GGCT	79017	broad.mit.edu	37	7	30538452	30538452	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:30538452G>A	ENST00000275428.4	-	3	524	c.390C>T	c.(388-390)taC>taT	p.Y130Y	GGCT_ENST00000409436.1_Silent_p.Y130Y|GGCT_ENST00000005374.6_Intron|GGCT_ENST00000598361.1_Silent_p.Y45Y|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000409144.1_Intron	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	130					release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity	p.Y130*(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						GAGCACTTTCGTAATTTGTCA	0.338000													63	94					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53190078	53190078	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:53190078C>T	ENST00000566029.1	+	2	286	c.77C>T	c.(76-78)gCa>gTa	p.A26V	CHD9_ENST00000398510.3_Missense_Mutation_p.A26V|CHD9_ENST00000564845.1_Missense_Mutation_p.A26V|CHD9_ENST00000447540.1_Missense_Mutation_p.A26V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	26					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCAGATGATGCATTTGTACAA	0.388000													6	45					0	0	1	0	0
RRNAD1	51093	broad.mit.edu	37	1	156702140	156702140	+	Missense_Mutation	SNP	C	C	T	rs147288369		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:156702140C>T	ENST00000368216.4	+	3	934	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	RRNAD1_ENST00000476229.1_5'UTR|RRNAD1_ENST00000524343.1_Missense_Mutation_p.P60L|RRNAD1_ENST00000368218.4_Missense_Mutation_p.R102W	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	102						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						GGCCTTTACCCGGATGCCTGG	0.592000													45	89					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60504690	60504690	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60504690C>T	ENST00000360469.5	+	13	2117	c.2029C>T	c.(2029-2031)Cgc>Tgc	p.R677C	CDH4_ENST00000543233.1_Missense_Mutation_p.R603C	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	677	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACTCAGCTTGCGCATCCTGTA	0.532000													37	105					0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72359683	72359683	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:72359683G>A	ENST00000001146.2	-	6	1415	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	CYP26B1_ENST00000546307.1_Silent_p.P329P|CYP26B1_ENST00000412253.1_Silent_p.P213P	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	404					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CTTTGAACACGGGCGCTGTGT	0.612000													23	37					0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31976293	31976293	+	Silent	SNP	C	C	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:31976293C>A	ENST00000443326.1	+	10	1338	c.945C>A	c.(943-945)acC>acA	p.T315T	SFI1_ENST00000540643.1_Intron|SFI1_ENST00000414585.1_Silent_p.T244T|SFI1_ENST00000432498.1_Intron|SFI1_ENST00000400288.2_Silent_p.T397T|SFI1_ENST00000400289.1_Silent_p.T315T|SFI1_ENST00000443011.1_Silent_p.T244T	NM_001258326.1|NM_001258327.1	NP_001245255.1|NP_001245256.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	397					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						ACAATGTGACCCACGCTCATC	0.453000													5	74					0.184627	0.184896	1	1	0
MST4	0	broad.mit.edu	37	X	131208175	131208175	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:131208175C>T	ENST00000394334.2	+	12	1492	c.1239C>T	c.(1237-1239)gaC>gaT	p.D413D	MST4_ENST00000394335.2_Silent_p.D336D|MST4_ENST00000354719.6_Silent_p.D389D|MST4_ENST00000496850.1_Silent_p.D351D|MST4_ENST00000481105.1_Silent_p.D435D	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		413					cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	p.D413D(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GTTCAGCAGACGAATCCCCCT	0.363000													124	21					0	0	1	0	0
DUSP8	1850	broad.mit.edu	37	11	1578531	1578531	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:1578531C>T	ENST00000397374.3	-	7	1222	c.1095G>A	c.(1093-1095)ccG>ccA	p.P365P	DUSP8_ENST00000331588.4_Silent_p.P365P	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	365	Pro-rich.|Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CGCTGGTcgccgggggcgtgg	0.731000													6	4					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578463	7578463	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7578463C>T	ENST00000420246.2	-	5	599	c.467G>A	c.(466-468)cGc>cAc	p.R156H	TP53_ENST00000413465.2_Missense_Mutation_p.R156H|TP53_ENST00000359597.4_Missense_Mutation_p.R156H|TP53_ENST00000445888.2_Missense_Mutation_p.R156H|TP53_ENST00000455263.2_Missense_Mutation_p.R156H|TP53_ENST00000269305.4_Missense_Mutation_p.R156H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	156	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; 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.R156P(24)|p.R156H(10)|p.0?(8)|p.?(5)|p.R156L(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*14(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.G154_R156delGTR(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)		GGCGCGGACGCGGGTGCCGGG	0.612000		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)			72	24					0	0	1	0	0
CALHM2	51063	broad.mit.edu	37	10	105209166	105209166	+	Missense_Mutation	SNP	C	C	T	rs139579411		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105209166C>T	ENST00000393235.1	-	3	1730	c.533G>A	c.(532-534)cGc>cAc	p.R178H	CALHM2_ENST00000369788.3_Missense_Mutation_p.R178H|CALHM2_ENST00000260743.5_Missense_Mutation_p.R178H			Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	178						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CCTGAGCCTGCGGCTGACCTC	0.592000													33	123					0	0	1	0	0
SYNPO	11346	broad.mit.edu	37	5	150029450	150029450	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:150029450G>A	ENST00000394243.1	+	3	2719	c.2345G>A	c.(2344-2346)cGg>cAg	p.R782Q	SYNPO_ENST00000307662.4_Missense_Mutation_p.R538Q|SYNPO_ENST00000522122.1_Missense_Mutation_p.R782Q|SYNPO_ENST00000519664.1_Missense_Mutation_p.R538Q	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	782	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCCAGCCCGGACCCCGCCT	0.687000													55	211					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40913824	40913824	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:40913824G>A	ENST00000291825.7	-	4	284	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	PRX_ENST00000324001.7_Missense_Mutation_p.R6W|PRX_ENST00000599513.1_5'UTR	NM_020956.2	NP_066007.1	Q9BXM0	PRAX_HUMAN	periaxin	6					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCGGCACTCCGGCTCCTGGCC	0.627000													23	62					0	0	1	0	0
C16orf92	146378	broad.mit.edu	37	16	30035371	30035371	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:30035371C>T	ENST00000300575.2	+	3	362	c.341C>T	c.(340-342)gCg>gTg	p.A114V		NM_001109659.1|NM_001109660.1	NP_001103129.1|NP_001103130.1	Q96LL3	CP092_HUMAN	chromosome 16 open reading frame 92	114						integral to membrane				breast(3)|lung(3)	6						CTGGTGGTGGCGTTCTTCTTT	0.582000													63	74					0	0	1	0	0
GPER	0	broad.mit.edu	37	7	1132151	1132151	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:1132151G>A	ENST00000397092.1	+	3	1671	c.787G>A	c.(787-789)Gcg>Acg	p.A263T	C7orf50_ENST00000397098.3_Intron|GPER_ENST00000297469.3_Missense_Mutation_p.A263T|GPER_ENST00000397088.3_Missense_Mutation_p.A263T|GPER_ENST00000401670.1_Missense_Mutation_p.A263T|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000357429.6_Intron	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		263						endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		CATGATCCTCGCGGTGGTGCT	0.687000													49	94					0	0	1	0	0
FBXO34	55030	broad.mit.edu	37	14	55818984	55818984	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:55818984C>T	ENST00000313833.4	+	2	2121	c.1876C>T	c.(1876-1878)Cgc>Tgc	p.R626C	FBXO34_ENST00000440021.1_Missense_Mutation_p.R626C	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	626										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TCGAGATCCACGCTATAGAGA	0.478000													54	34					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77390827	77390827	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:77390827G>A	ENST00000451710.3	-	24	3612	c.3375C>T	c.(3373-3375)caC>caT	p.H1125H	TRPM6_ENST00000449912.2_Silent_p.H1120H|TRPM6_ENST00000376864.4_Silent_p.H1125H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.H1120H|TRPM6_ENST00000360774.1_Silent_p.H1125H			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1125					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTTCTTGGTCGTGAGGAGCTC	0.537000													68	108					0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12768302	12768302	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:12768302G>A	ENST00000456935.2	-	11	1417	c.1377C>T	c.(1375-1377)aaC>aaT	p.N459N	MAN2B1_ENST00000221363.4_Silent_p.N458N|MAN2B1_ENST00000495617.1_5'UTR	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	459					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCGCGTAGTCGTTGGCCACGT	0.682000													4	3					0	0	1	0	0
EPN3	55040	broad.mit.edu	37	17	48616601	48616601	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:48616601C>T	ENST00000268933.3	+	5	1395	c.816C>T	c.(814-816)gcC>gcT	p.A272A	EPN3_ENST00000541226.1_Silent_p.A189A|EPN3_ENST00000537145.1_Silent_p.A300A	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	272						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GTGCAGGGGCCGTGGTCCACC	0.607000													73	24					0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155490927	155490927	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:155490927C>T	ENST00000302068.4	+	7	1283	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.T188M	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	407	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTCTTCAGCACGTATGACAGA	0.423000													46	76					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21049298	21049298	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:21049298C>T	ENST00000261383.3	-	34	4734	c.4735G>A	c.(4735-4737)Gcc>Acc	p.A1579T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1579T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1579	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCTTCTGGGCGAGACTAGAA	0.552000													4	45					0	0	1	0	0
CCER1	196477	broad.mit.edu	37	12	91348005	91348005	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:91348005G>A	ENST00000358859.2	-	1	948	c.515C>T	c.(514-516)cCg>cTg	p.P172L	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		CAGCTTGACCGGCCGCGGCAG	0.667000													37	79					0	0	1	0	0
DIS3L2	129563	broad.mit.edu	37	2	233128091	233128091	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:233128091G>A	ENST00000325385.7	+	13	1876	c.1600G>A	c.(1600-1602)Gga>Aga	p.G534R	DIS3L2_ENST00000409307.1_Missense_Mutation_p.G534R|DIS3L2_ENST00000273009.6_Intron	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	534							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GAATCTCCACGGAATTGCCAA	0.522000													17	121					0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67629360	67629360	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:67629360G>A	ENST00000335894.4	+	5	501	c.435G>A	c.(433-435)acG>acA	p.T145T	IQCH_ENST00000358767.3_5'UTR|IQCH_ENST00000546225.1_5'UTR	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	145										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCAGCCTCACGGTTCTGCCAT	0.383000													8	134					0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4944910	4944910	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:4944910G>A	ENST00000321961.2	-	1	727	c.660C>T	c.(658-660)taC>taT	p.Y220Y	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y220*(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATGAGGGCGTATGAGAGAA	0.547000													26	89					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31368261	31368261	+	Silent	SNP	G	G	A	rs138805251		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:31368261G>A	ENST00000328111.2	+	2	453	c.132G>A	c.(130-132)ccG>ccA	p.P44P	DNMT3B_ENST00000353855.2_Silent_p.P44P|DNMT3B_ENST00000344505.4_Silent_p.P44P|DNMT3B_ENST00000456297.2_Silent_p.P44P|DNMT3B_ENST00000443239.3_Silent_p.P44P|DNMT3B_ENST00000201963.3_Silent_p.P56P|DNMT3B_ENST00000375623.4_Silent_p.P44P|DNMT3B_ENST00000348286.2_Silent_p.P44P	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	44	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCGCACCCCGGAGATCAGAG	0.652000													13	39					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120189940	120189940	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:120189940G>A	ENST00000392521.2	-	23	2874	c.2819C>T	c.(2818-2820)gCg>gTg	p.A940V	CIT_ENST00000261833.7_Missense_Mutation_p.A898V|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	898					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCCAGGGCCGCCCGTGCAGC	0.627000													30	58					0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	121000755	121000755	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:121000755A>G	ENST00000325954.4	+	8	1597	c.1136A>G	c.(1135-1137)gAa>gGa	p.E379G	RNF10_ENST00000413266.2_Missense_Mutation_p.E379G	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	379					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGACTCGGGAAGAGGCTCTG	0.547000													31	66					0	0	1	0	0
BZW1	9689	broad.mit.edu	37	2	201683504	201683504	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:201683504G>A	ENST00000409600.1	+	9	1301	c.846G>A	c.(844-846)atG>atA	p.M282I	BZW1_ENST00000452790.2_Missense_Mutation_p.M314I|BZW1_ENST00000409226.1_Missense_Mutation_p.M286I	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	282	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						AGGAGGAGATGAAAAAAAACA	0.373000													19	33					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124826571	124826571	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:124826571C>T	ENST00000356219.3	-	35	5162	c.5007G>A	c.(5005-5007)ccG>ccA	p.P1669P	NCOR2_ENST00000404121.2_Silent_p.P1223P|NCOR2_ENST00000397355.1_Silent_p.P1653P|NCOR2_ENST00000405201.1_Silent_p.P1662P|NCOR2_ENST00000404621.1_Silent_p.P1652P|NCOR2_ENST00000429285.2_Silent_p.P1652P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1670					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGTACAGGTGCGGGTAGGTGG	0.652000													24	55					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77425402	77425402	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:77425402G>A	ENST00000560626.2	-	6	4497	c.4022C>T	c.(4021-4023)gCg>gTg	p.A1341V	PEAK1_ENST00000312493.4_Missense_Mutation_p.A1341V			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1341	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										ATAGTAAACCGCATCACCTGC	0.413000													6	118					0	0	1	0	0
SFRP2	6423	broad.mit.edu	37	4	154709690	154709690	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:154709690C>T	ENST00000274063.4	-	1	582	c.298G>A	c.(298-300)Gcc>Acc	p.A100T		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	100	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CAGACGGGGGCGAAGAGCGAG	0.647000													37	220					0	0	1	0	0
LEMD3	23592	broad.mit.edu	37	12	65637238	65637238	+	Silent	SNP	T	T	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:65637238T>C	ENST00000308330.2	+	10	2402	c.2376T>C	c.(2374-2376)ttT>ttC	p.F792F		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	792	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GGAATATGTTTGATCCCGTTA	0.318000													41	62					0	0	1	0	0
MAPK9	5601	broad.mit.edu	37	5	179676062	179676062	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:179676062G>A	ENST00000452135.2	-	6	825	c.527C>T	c.(526-528)gCg>gTg	p.A176V	MAPK9_ENST00000347470.4_Missense_Mutation_p.A176V|MAPK9_ENST00000539014.1_Missense_Mutation_p.A176V|MAPK9_ENST00000455781.1_Missense_Mutation_p.A176V|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000393360.3_Missense_Mutation_p.A176V|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000425491.2_Missense_Mutation_p.A176V|MAPK9_ENST00000343111.6_Missense_Mutation_p.A176V			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	176	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTAGTGCACGCTGTCCGGGC	0.498000													128	161					0	0	1	0	0
NT5DC3	51559	broad.mit.edu	37	12	104208744	104208744	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:104208744C>T	ENST00000392876.3	-	2	404	c.364G>A	c.(364-366)Gca>Aca	p.A122T		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	122							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						AGGTCCCGTGCAGCATTAAAT	0.448000													74	121					0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135101799	135101799	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:135101799T>C	ENST00000368563.2	-	11	1912	c.1556A>G	c.(1555-1557)tAc>tGc	p.Y519C	TUBGCP2_ENST00000252936.3_Missense_Mutation_p.Y519C|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.Y547C|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.Y112C|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.Y389C	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	519					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CATGAGGAAGTAGCGCTTGAT	0.682000													15	53					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45914668	45914668	+	Splice_Site	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:45914668G>A	ENST00000348697.2	+	2	332		c.e2+1		FBLN1_ENST00000442170.2_Splice_Site|FBLN1_ENST00000402984.3_Splice_Site|FBLN1_ENST00000340923.5_Splice_Site|FBLN1_ENST00000327858.6_Splice_Site|FBLN1_ENST00000262722.7_Splice_Site			P23142	FBLN1_HUMAN	fibulin 1						interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AAGAATGCAGGTACGTTTGCC	0.567000													14	14					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29240816	29240816	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:29240816G>A	ENST00000379558.4	+	10	1705	c.1354G>A	c.(1354-1356)Gcc>Acc	p.A452T	FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	452							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGCCCGCCACGCCTCAGGTGG	0.672000													9	21					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178566910	178566910	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:178566910G>A	ENST00000251582.7	-	11	1857	c.1756C>T	c.(1756-1758)Cgc>Tgc	p.R586C		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	586	TSP type-1 1.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCACACTGGCGGGTCCTGAAC	0.642000													107	116					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56815752	56815752	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:56815752C>T	ENST00000229201.4	-	21	2724	c.2570G>A	c.(2569-2571)cGa>cAa	p.R857Q	TIMELESS_ENST00000554616.1_Missense_Mutation_p.R355Q|TIMELESS_ENST00000553532.1_Missense_Mutation_p.R858Q	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	858					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTTGCGTGTTCGAGGAACAGT	0.547000													91	110					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201184276	201184276	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:201184276G>A	ENST00000335211.4	+	14	9119	c.8989G>A	c.(8989-8991)Gtc>Atc	p.V2997I	IGFN1_ENST00000295591.8_Missense_Mutation_p.V157I|IGFN1_ENST00000451870.2_Missense_Mutation_p.V540I	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CACCCTGACCGTCCAGGGTAA	0.587000													26	37					0	0	1	0	0
TRMT13	54482	broad.mit.edu	37	1	100606421	100606421	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:100606421G>A	ENST00000370141.2	+	7	521	c.515G>A	c.(514-516)gGt>gAt	p.G172D		NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)																		TCTATTTTAGGTAACATTGAA	0.338000													17	46					0	0	1	0	0
SLC30A5	64924	broad.mit.edu	37	5	68413208	68413208	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:68413208G>A	ENST00000396591.3	+	11	2034	c.1424G>A	c.(1423-1425)cGg>cAg	p.R475Q	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	475					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		AAAGCCACTCGGATTTTCTCC	0.413000													65	93					0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227261695	227261695	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:227261695G>A	ENST00000366769.3	-	19	3896	c.2605C>T	c.(2605-2607)Cgt>Tgt	p.R869C	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R869C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R869C|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R788C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R869C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R869C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R869C	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	869					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GCAAAACGACGCATTTTCCAG	0.378000													9	239					0	0	1	0	0
EFEMP2	30008	broad.mit.edu	37	11	65635366	65635366	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:65635366C>T	ENST00000307998.6	-	10	1366	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	EFEMP2_ENST00000528176.1_Missense_Mutation_p.R379H	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	379					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GTTTCCAGCACGGATCTGAAA	0.552000													40	132					0	0	1	0	0
BTBD17	388419	broad.mit.edu	37	17	72353354	72353354	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:72353354G>A	ENST00000375366.3	-	3	1005	c.879C>T	c.(877-879)caC>caT	p.H293H		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	293						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						GCGACGCGGCGTGGAACTGGT	0.731000													16	3					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	80968196	80968196	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:80968196G>A	ENST00000334512.5	+	6	736	c.164G>A	c.(163-165)gGc>gAc	p.G55D		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	55					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AGCCTGATGGGCTGTTTGACG	0.607000													4	71					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476694	120476694	+	Missense_Mutation	SNP	G	G	A	rs5030723	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:120476694G>A	ENST00000355622.6	+	3	2389	c.2288G>A	c.(2287-2289)cGt>cAt	p.R763H	TLR4_ENST00000394487.4_Missense_Mutation_p.R723H|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	763	TIR.		R -> H (in dbSNP:rs5030723).		activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CTGAGCAGTCGTGCTGGTATC	0.527000													5	94					0	0	1	0	0
FKBP6	8468	broad.mit.edu	37	7	72754699	72754699	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:72754699C>T	ENST00000252037.4	+	6	717	c.648C>T	c.(646-648)gcC>gcT	p.A216A	FKBP6_ENST00000413573.2_Silent_p.A186A|FKBP6_ENST00000431982.2_Silent_p.A211A	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	216					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGGTGGAGGCCGCCAAGCTTC	0.572000													24	112					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34770234	34770234	+	Silent	SNP	G	G	A	rs139137163	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:34770234G>A	ENST00000338074.2	+	6	692	c.531G>A	c.(529-531)ccG>ccA	p.P177P	EPB41L1_ENST00000202028.5_Silent_p.P115P|EPB41L1_ENST00000373941.1_Silent_p.P177P|EPB41L1_ENST00000373946.3_Silent_p.P146P|EPB41L1_ENST00000373950.2_Silent_p.P80P|EPB41L1_ENST00000441639.1_Silent_p.P115P	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	177	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGTTCTACCCGCCTGATCCTG	0.582000													38	69					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18387494	18387494	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:18387494C>T	ENST00000441493.2	-	3	728	c.376G>A	c.(376-378)Gtc>Atc	p.V126I	MICAL3_ENST00000414725.2_Missense_Mutation_p.V126I|MICAL3_ENST00000400561.2_Missense_Mutation_p.V126I|MICAL3_ENST00000585038.1_Missense_Mutation_p.V126I|MICAL3_ENST00000207726.7_Missense_Mutation_p.V126I|MICAL3_ENST00000429452.1_Missense_Mutation_p.V126I|MICAL3_ENST00000383094.3_Missense_Mutation_p.V126I|MICAL3_ENST00000444520.1_Missense_Mutation_p.V126I	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	126						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGATGCAAGACGTTGTTGCGG	0.522000													36	254					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167689238	167689238	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:167689238C>T	ENST00000519204.1	+	28	7503	c.7385C>T	c.(7384-7386)aCg>aTg	p.T2462M	TENM2_ENST00000545108.1_Missense_Mutation_p.T2582M|TENM2_ENST00000403607.2_Missense_Mutation_p.T2407M|TENM2_ENST00000518659.1_Missense_Mutation_p.T2583M|TENM2_ENST00000520394.1_Missense_Mutation_p.T2344M					teneurin transmembrane protein 2																		CGGGTGACCACGGGCGTGTCC	0.572000													4	11					0	0	1	0	0
TMEM156	80008	broad.mit.edu	37	4	38990512	38990512	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:38990512C>T	ENST00000381938.3	-	4	805	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	233						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AAGTATTTTGCGGATAGTGAG	0.358000													83	151					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141816539	141816539	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:141816539G>A	ENST00000389484.3	-	9	2292	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	441					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATTAAATCGGTTTATCCTT	0.328000										TSP Lung(27;0.18)			7	89					0	0	1	0	0
RP11-468E2.4	0	broad.mit.edu	37	14	24629769	24629769	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:24629769G>A	ENST00000558468.1	+	13	1631	c.1631G>A	c.(1630-1632)cGc>cAc	p.R544H	RNF31_ENST00000324103.6_Missense_Mutation_p.R1069H|RNF31_ENST00000559275.1_Missense_Mutation_p.R918H|RNF31_ENST00000382687.3_Missense_Mutation_p.R918H																							AGTATCCCCCGCAGGCGGAAG	0.562000											OREG0022619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	17					0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88387390	88387390	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:88387390G>A	ENST00000419482.2	+	3	409	c.324G>A	c.(322-324)gcG>gcA	p.A108A	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000444564.2_Silent_p.A108A	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGCTGGCGGCGCGCATCATGT	0.607000													14	18					0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66424460	66424460	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:66424460C>T	ENST00000341529.3	+	6	1084	c.936C>T	c.(934-936)ccC>ccT	p.P312P	CDH5_ENST00000563425.2_Silent_p.P312P	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	312	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AGACAAACCCCGCCCACAACG	0.557000													53	47					0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	348938	348938	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:348938C>T	ENST00000604971.1	+	4	1409	c.296C>T	c.(295-297)aCg>aTg	p.T99M	DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000419235.2_Missense_Mutation_p.T202M|DUSP22_ENST00000344450.5_Intron|DUSP22_ENST00000603453.1_Missense_Mutation_p.T99M|DUSP22_ENST00000605315.1_Missense_Mutation_p.T99M			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	0	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GATAATTATACGACGGAGACC	0.622000													12	13					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179430304	179430304	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179430304C>T	ENST00000589042.1	-	326	80779	c.80555G>A	c.(80554-80556)cGt>cAt	p.R26852H	TTN_ENST00000342992.6_Missense_Mutation_p.R24284H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R17787H|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R17979H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R17912H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R25211H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25211	Fibronectin type-III 95.						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)			AGCCTTGACACGGAACTGATA	0.418000													74	193					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38974156	38974156	+	Splice_Site	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:38974156G>A	ENST00000355481.4	+	33	5065	c.4934_splice	c.e33+1	p.R1645_splice	RYR1_ENST00000360985.3_Splice_Site_p.R1645_splice|RYR1_ENST00000359596.3_Splice_Site_p.R1645_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1645	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGGAGAACCGGTCAGGGCCA	0.687000													5	5					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72281140	72281140	+	RNA	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:72281140G>A	ENST00000438125.1	-	0	336							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TTGCCAAATCGAAAATCAATG	0.448000													100	132					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16202978	16202978	+	Missense_Mutation	SNP	G	G	A	rs139125517		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:16202978G>A	ENST00000375759.3	+	3	890	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	229	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGGGAGGTACGAGGCAGAAGG	0.542000													45	95					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	121965555	121965555	+	Silent	SNP	C	C	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:121965555C>G	ENST00000334010.7	-	27	4108	c.3687G>C	c.(3685-3687)ctG>ctC	p.L1229L	CADPS2_ENST00000412584.2_Silent_p.L1190L|CADPS2_ENST00000313070.7_Silent_p.L1190L|CADPS2_ENST00000449022.2_Silent_p.L1231L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1231					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGAGCGTCTTCAGCTGGTAAA	0.398000													8	15					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96480238	96480238	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:96480238C>T	ENST00000285979.6	+	6	1104	c.905C>T	c.(904-906)aCg>aTg	p.T302M	CYP2C18_ENST00000339022.5_Missense_Mutation_p.T243M|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		ACAGAGACAACGAGCACCACT	0.423000													19	78					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228471282	228471282	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:228471282C>T	ENST00000570156.2	+	38	10177	c.10103C>T	c.(10102-10104)aCg>aTg	p.T3368M	OBSCN_ENST00000366709.4_Missense_Mutation_p.T58M|OBSCN_ENST00000422127.1_Missense_Mutation_p.T2939M|OBSCN_ENST00000359599.6_Missense_Mutation_p.T1786M|OBSCN_ENST00000366707.4_Missense_Mutation_p.T58M|OBSCN_ENST00000284548.11_Missense_Mutation_p.T2939M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2402	Ig-like 34.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACGTGCAAGACGGAGCACCCC	0.632000													30	53					0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43314943	43314943	+	Silent	SNP	G	G	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:43314943G>T	ENST00000331495.3	+	9	1167	c.831G>T	c.(829-831)gcG>gcT	p.A277A	FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Silent_p.A277A	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1	277	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AGCTGCTGGCGGCCGTGTGCT	0.607000													181	80					1.90661e-81	1.97246e-81	1	1	0
AMOTL1	154810	broad.mit.edu	37	11	94554766	94554766	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:94554766G>A	ENST00000433060.2	+	4	1333	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.A348T	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	398						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GACCTCTTCCGCCAGCGGGCC	0.662000													18	25					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74595114	74595114	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:74595114G>A	ENST00000361874.3	-	17	2316	c.1999C>T	c.(1999-2001)Cta>Tta	p.L667L	DCTN1_ENST00000409567.3_Silent_p.L647L|DCTN1_ENST00000409868.1_Silent_p.L650L|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409240.1_Silent_p.L630L|DCTN1_ENST00000407639.2_Silent_p.L533L|DCTN1_ENST00000394003.3_Silent_p.L660L|DCTN1_ENST00000409438.1_Silent_p.L533L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	667					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TAGCGGTGTAGCGTGGCCTGC	0.607000													25	94					0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44255740	44255740	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:44255740G>C	ENST00000395673.3	+	12	2037	c.1981G>C	c.(1981-1983)Gat>Cat	p.D661H	EXT2_ENST00000533608.1_Missense_Mutation_p.D628H|EXT2_ENST00000358681.4_Missense_Mutation_p.D638H|EXT2_ENST00000343631.3_Missense_Mutation_p.D628H	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	628					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GAACTGTGAAGATATTGCCAT	0.428000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				17	41					0	0	1	0	0
PCDHGB4	0	broad.mit.edu	37	5	140769478	140769478	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140769478G>A	ENST00000519479.1	+	1	2027	c.2027G>A	c.(2026-2028)cGc>cAc	p.R676H	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCACTGACCGCCCCGACCCC	0.617000													15	279					0	0	1	0	0
DNTT	1791	broad.mit.edu	37	10	98064310	98064310	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:98064310C>T	ENST00000419175.1	+	1	226	c.56C>T	c.(55-57)aCg>aTg	p.T19M	RP11-35J23.1_ENST00000454484.2_RNA|DNTT_ENST00000371174.2_Missense_Mutation_p.T19M	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	19					DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	p.T19M(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CCCCGGCAGACGGGTGCCTTG	0.567000													21	84					0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	814961	814961	+	Silent	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:814961G>A	ENST00000566549.1	+	7	852	c.435G>A	c.(433-435)acG>acA	p.T145T	MSLN_ENST00000382862.3_Silent_p.T145T|MSLN_ENST00000563941.1_Silent_p.T145T|MSLN_ENST00000545450.2_Silent_p.T145T			Q13421	MSLN_HUMAN	mesothelin	145					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CCCGCATCACGAAGGCCAATG	0.701000													11	34					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123215886	123215886	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123215886C>T	ENST00000349780.4	-	21	2820	c.2641G>A	c.(2641-2643)Gac>Aac	p.D881N	CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.D881N|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.D881N|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.D849N	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	881					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTCAGCAGGTCGCCCTCCGTG	0.552000													101	158					0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148963729	148963729	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:148963729C>T	ENST00000434415.1	+	2	491	c.328C>T	c.(328-330)Cag>Tag	p.Q110*		NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	110					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			CGGGCTGCTGCAGAGGCGGCT	0.647000													9	232					0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75737579	75737579	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:75737579C>T	ENST00000260113.2	+	2	274	c.95C>T	c.(94-96)cCg>cTg	p.P32L	PI15_ENST00000523773.1_Missense_Mutation_p.P32L|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	32						extracellular region	peptidase inhibitor activity	p.P32Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GACTCATCCCCGCCAACCAAT	0.478000													57	93					0	0	1	0	0
MLK4	0	broad.mit.edu	37	1	233497841	233497841	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:233497841C>G	ENST00000366624.3	+	5	1615	c.1354C>G	c.(1354-1356)Cag>Gag	p.Q452E	MLK4_ENST00000366623.3_Missense_Mutation_p.Q452E	NM_032435.2	NP_115811.2																					GGCGGCTCTGCAGCAGAAGTC	0.582000													3	49					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26164580	26164580	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:26164580A>G	ENST00000335473.7	+	4	947	c.697A>G	c.(697-699)Aaa>Gaa	p.K233E	MYO18B_ENST00000407587.2_Missense_Mutation_p.K233E|MYO18B_ENST00000536101.1_Missense_Mutation_p.K233E	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	233						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGCACTGAAAAAAGGCGAGGA	0.617000													4	16					0	0	1	0	0
TRIM72	493829	broad.mit.edu	37	16	31230620	31230620	+	Missense_Mutation	SNP	G	G	A	rs140684083	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:31230620G>A	ENST00000322122.3	+	4	781	c.497G>A	c.(496-498)cGt>cAt	p.R166H		NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72	166					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GAGACAGTGCGTCAGTTCCGG	0.647000													40	134					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40662440	40662440	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:40662440C>T	ENST00000454349.2	+	5	2417	c.2206C>T	c.(2206-2208)Cgc>Tgc	p.R736C	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.R736C|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	736					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GGGAGGTGGACGCCAGCCCAA	0.502000													9	21					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43779639	43779639	+	Splice_Site	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:43779639G>A	ENST00000372476.3	+	14	2488	c.2409_splice	c.e14+1	p.S803_splice	TIE1_ENST00000433781.2_Splice_Site_p.S448_splice|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	803					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGTCAGGCTCGGTCAGTGACC	0.577000													27	44					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79256073	79256073	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:79256073C>T	ENST00000374759.3	-	5	800	c.417G>A	c.(415-417)ccG>ccA	p.P139P	SLC38A10_ENST00000288439.5_Silent_p.P139P	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	139					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCAGGCTGAGCGGGAGCACGA	0.662000													10	58					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151105813	151105813	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:151105813C>T	ENST00000341697.3	-	19	3631	c.1940G>A	c.(1939-1941)cGc>cAc	p.R647H				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	647						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAGAGAGGGCGCGGGAGCCC	0.726000													11	25					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56568511	56568511	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:56568511G>A	ENST00000394023.3	-	16	1525	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	SMARCC2_ENST00000347471.4_Nonsense_Mutation_p.R474*|SMARCC2_ENST00000550164.1_Nonsense_Mutation_p.R474*|SMARCC2_ENST00000267064.4_Nonsense_Mutation_p.R474*|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	474	SWIRM.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGTTCAGTCGGTAAGTGTCA	0.468000													30	166					0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76905826	76905826	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:76905826G>A	ENST00000380887.2	+	2	202	c.130G>A	c.(130-132)Ggc>Agc	p.G44S	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Missense_Mutation_p.G44S|ESRRB_ENST00000556177.1_Missense_Mutation_p.G44S|ESRRB_ENST00000509242.1_Missense_Mutation_p.G44S			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	44						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CGCCAGCGGCGGCTTTGGCCT	0.692000													50	20					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3999984	3999984	+	Silent	SNP	C	C	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:3999984C>T	ENST00000381638.2	-	10	1807	c.1683G>A	c.(1681-1683)acG>acA	p.T561T	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	561							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTCCAGTTTCCGTAAGAAAAC	0.368000													89	27					0	0	1	0	0
ZBTB48	3104	broad.mit.edu	37	1	6647351	6647354	+	Splice_Site	DEL	AGTA	AGTA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6647351_6647354delAGTA	ENST00000377674.4	+	6	1382	c.1224_splice	c.e6+1	p.408_splice		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	408						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		AGCCCCATGCAGTAAGTGACAGGG	0.564													9	66	---	---	---	---					
PHF13	148479	broad.mit.edu	37	1	6680127	6680128	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6680127_6680128insG	ENST00000377648.4	+	3	788_789	c.406_407insG	c.(406-408)gggfs	p.G136fs	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	136					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		AGAGGGGTACAGGGGGGGCTTG	0.604													17	153	---	---	---	---					
CLIC4	25932	broad.mit.edu	37	1	25167273	25167273	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:25167273delA	ENST00000374379.4	+	6	804	c.607delA	c.(607-609)aafs	p.K204fs		NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	204	GST C-terminal.				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		GGTGGTGGCCAAAAAATATCG	0.373													63	108	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27088659	27088659	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:27088659delC	ENST00000324856.7	+	7	2639	c.2268delC	c.(2266-2268)aafs	p.N756fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.N756fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.N373fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	756					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGCAGAGGAACCCCCAGATGC	0.512			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								13	225	---	---	---	---					
DLGAP3	58512	broad.mit.edu	37	1	35365314	35365314	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:35365314delG	ENST00000373347.1	-	5	1610	c.1342delC	c.(1342-1344)ggfs	p.R448fs	DLGAP3_ENST00000235180.4_Frame_Shift_Del_p.R448fs			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	448					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				ATGGAGCTCCGGGGGTGGATC	0.577													31	205	---	---	---	---					
RNF220	55182	broad.mit.edu	37	1	45110396	45110397	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:45110396_45110397delAA	ENST00000355387.2	+	9	1603_1604	c.1153_1154delAA	c.(1153-1155)afs	p.K385fs	TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000480686.1_3'UTR|TMEM53_ENST00000372243.3_Intron|RNF220_ENST00000443020.2_Frame_Shift_Del_p.K172fs|TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000372247.2_Frame_Shift_Del_p.K385fs|RNF220_ENST00000361799.2_Frame_Shift_Del_p.K385fs			Q5VTB9	RN220_HUMAN	ring finger protein 220	385					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GTGCAGCGGCAAAGAGAACCCG	0.599													49	115	---	---	---	---					
C1orf168	199920	broad.mit.edu	37	1	57192198	57192199	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:57192198_57192199insT	ENST00000343433.6	-	16	1931_1932	c.1851_1852insA	c.(1849-1854)aaagaafs	p.E618fs		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	618										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CCGTTTTTCTCTTTTTTTTCCT	0.376													19	109	---	---	---	---					
DBT	1629	broad.mit.edu	37	1	100684291	100684293	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:100684291_100684293delTCT	ENST00000370132.3	-	5	457_459	c.444_446delAGA	c.(442-447)gat>ga	p.ED148del	DBT_ENST00000370131.3_In_Frame_Del_p.ED148del	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	148					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TTCAACAACATCTTCTTCTGAAT	0.384													69	136	---	---	---	---					
LCE1A	353131	broad.mit.edu	37	1	152800020	152800020	+	Frame_Shift_Del	DEL	C	C	-	rs4990424		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:152800020delC	ENST00000335123.2	+	1	72	c.72delC	c.(70-72)tgfs	p.C24fs		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	24	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ctcccaagtgccccactccta	0.652													41	154	---	---	---	---					
HCN3	57657	broad.mit.edu	37	1	155258080	155258081	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:155258080_155258081delCT	ENST00000368358.3	+	8	2159_2160	c.2151_2152delCT	c.(2149-2154)ccctfs	p.PS717fs	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	717	Pro-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTCCCAACCCTCTCTGCCTCA	0.698													13	50	---	---	---	---					
IARS2	55699	broad.mit.edu	37	1	220307791	220307791	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:220307791delG	ENST00000366922.1	+	15	2000	c.1669delG	c.(1669-1671)ggfs	p.G558fs	IARS2_ENST00000302637.5_Frame_Shift_Del_p.G630fs			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	630					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AGACCAGCTCGGGGGTTGGTT	0.383													8	147	---	---	---	---					
RP11-400N13.1	0	broad.mit.edu	37	1	222435596	222435596	+	RNA	DEL	T	T	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:222435596delT	ENST00000416510.1	-	0	167																											ATTTTCATAGTTTTTTTTAAC	0.373													10	22	---	---	---	---					
DISP1	84976	broad.mit.edu	37	1	223176292	223176293	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:223176292_223176293delTG	ENST00000284476.6	+	8	1717_1718	c.1553_1554delTG	c.(1552-1554)afs	p.M518fs		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	518	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CTTTTAGTTATGTGTGTCTACA	0.361													30	143	---	---	---	---					
PFN4	375189	broad.mit.edu	37	2	24344101	24344103	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:24344101_24344103delCTT	ENST00000313213.4	-	3	556_558	c.185_187delAAG	c.(184-189)gga>g	p.EG62del	PFN4_ENST00000465360.1_5'UTR	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	62					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAATACAGTCCTTCTCTTCGGGC	0.453													93	103	---	---	---	---					
RP11-481J13.1	0	broad.mit.edu	37	2	56216156	56216157	+	RNA	DEL	CA	CA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:56216156_56216157delCA	ENST00000606639.1	+	0	82				AC011306.2_ENST00000446139.1_lincRNA|MIR216A_ENST00000385063.1_RNA																							ATGAACATCTCACAGTTGCCAG	0.480													69	140	---	---	---	---					
VPS54	51542	broad.mit.edu	37	2	64199337	64199339	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:64199337_64199339delAGG	ENST00000354504.3	-	2	656_658	c.67_69delCCT	c.(67-69)del	p.P23del	VPS54_ENST00000409558.3_In_Frame_Del_p.P128del|VPS54_ENST00000272322.4_In_Frame_Del_p.P140del			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	140					protein transport|retrograde transport, endosome to Golgi			p.P140T(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						AGGTATCTTTAGGAGGACAAATA	0.286													14	47	---	---	---	---					
FAHD2B	151313	broad.mit.edu	37	2	97749725	97749725	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:97749725delG	ENST00000414820.1	-	8	1112	c.842delC	c.(841-843)cafs	p.P281fs	FAHD2B_ENST00000272610.3_Frame_Shift_Del_p.P281fs|FAHD2B_ENST00000440566.2_Frame_Shift_Del_p.P281fs			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	281							hydrolase activity|metal ion binding			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						ACCGACACCTGGGGGGGTCCC	0.552													16	52	---	---	---	---					
EN1	2019	broad.mit.edu	37	2	119600797	119600799	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:119600797_119600799delTTC	ENST00000295206.6	-	2	1404_1406	c.894_896delGAA	c.(892-897)aac>aa	p.KN298del		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	298					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						CTCCTTCTCGTTCTTCTTCTTCT	0.680													6	11	---	---	---	---					
POTEF	728378	broad.mit.edu	37	2	130872806	130872806	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:130872806delT	ENST00000357462.5	-	2	710	c.617delA	c.(616-618)agfs	p.K206fs	POTEF_ENST00000409914.2_Frame_Shift_Del_p.K206fs|POTEF_ENST00000360967.5_Frame_Shift_Del_p.K206fs|POTEF_ENST00000361163.4_Frame_Shift_Del_p.K206fs			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	206						cell cortex	ATP binding	p.K206R(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGCTGTCCTCTTTTTGTTGTC	0.403													28	86	---	---	---	---					
POTEE	445582	broad.mit.edu	37	2	132021077	132021078	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:132021077_132021078insA	ENST00000356920.5	+	15	2143_2144	c.2049_2050insA	c.(2047-2052)gtaaaafs	p.VK683fs	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	683							ATP binding										TTGAAAGTGTGAAAAAAAAGAA	0.416													14	24	---	---	---	---					
CCDC173	129881	broad.mit.edu	37	2	170502600	170502603	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:170502600_170502603delTTCT	ENST00000447353.1	-	9	1512_1515	c.1407_1410delAGAA	c.(1405-1410)aafs	p.KE469fs		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173																		AGTCCTGAAATTCTTTCTCCTTTT	0.373													38	352	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179598102	179598102	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179598102delT	ENST00000589042.1	-	54	16142	c.15918delA	c.(15916-15918)aafs	p.K5306fs	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Frame_Shift_Del_p.K4062fs|TTN_ENST00000591111.1_Frame_Shift_Del_p.K4989fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4989	Ig-like 33.						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)			TTATTCGGTATTTTTTACTGG	0.468													86	109	---	---	---	---					
HTR2B	3357	broad.mit.edu	37	2	231973400	231973401	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:231973400_231973401delTT	ENST00000258400.3	-	4	1788_1789	c.1276_1277delAA	c.(1276-1278)gfs	p.K426fs	PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	426					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	CTTGAAAAACTTAGAGTTCTCT	0.426													34	69	---	---	---	---					
SLC38A3	10991	broad.mit.edu	37	3	50255683	50255683	+	RNA	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:50255683delC	ENST00000420502.1	+	0	1088							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CCAACACCCACCCCCCCACTT	0.557													42	21	---	---	---	---					
SLC9C1	285335	broad.mit.edu	37	3	112005610	112005610	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:112005610delA	ENST00000305815.5	-	2	281	c.29delT	c.(28-30)tcfs	p.F10fs	SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Frame_Shift_Del_p.F10fs	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	10					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CTCAGTACTGAAAAAAAACTC	0.353													12	33	---	---	---	---					
ZBTB20	26137	broad.mit.edu	37	3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:114058003delG	ENST00000462705.1	-	12	2677	c.1856delC	c.(1855-1857)ctfs	p.P619fs	ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000474710.1_Frame_Shift_Del_p.P692fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.P619fs	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P619fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632													88	28	---	---	---	---					
NPHP3	27031	broad.mit.edu	37	3	132403500	132403502	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:132403500_132403502delTTC	ENST00000337331.5	-	24	3552_3554	c.3466_3468delGAA	c.(3466-3468)del	p.E1156del	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1156					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTCATAAAGTTCTTCTGCTTTA	0.419													40	20	---	---	---	---					
JAKMIP1	152789	broad.mit.edu	37	4	6052396	6052397	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:6052396_6052397delCT	ENST00000409021.3	-	14	2265_2266	c.1816_1817delAG	c.(1816-1818)gfs	p.R607fs	JAKMIP1_ENST00000409371.3_Frame_Shift_Del_p.R422fs	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	379	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGCGACCTCCTCTCTCTCTCC	0.485													3	5	---	---	---	---					
QRFPR	84109	broad.mit.edu	37	4	122301462	122301462	+	Splice_Site	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:122301462delC	ENST00000394427.2	-	1	752		c.e1+1		QRFPR_ENST00000334383.5_Splice_Site	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor							plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						GCGACTCTTACCCCCCAGCCA	0.542													8	165	---	---	---	---					
CDH10	1008	broad.mit.edu	37	5	24491704	24491706	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:24491704_24491706delGAG	ENST00000264463.4	-	11	2362_2364	c.1855_1857delCTC	c.(1855-1857)del	p.L619del	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	619					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGATGATGCAGAGGAGGATGGCG	0.483										HNSCC(23;0.051)			55	110	---	---	---	---					
ERBB2IP	55914	broad.mit.edu	37	5	65371013	65371014	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:65371013_65371014insC	ENST00000284037.5	+	23	4307_4308	c.3918_3919insC	c.(3916-3921)cacccafs	p.HP1306fs	ERBB2IP_ENST00000416865.2_Frame_Shift_Ins_p.HP504fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Ins_p.HP1261fs|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380943.2_Frame_Shift_Ins_p.HP1265fs|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000380938.2_Frame_Shift_Ins_p.HP1265fs|ERBB2IP_ENST00000380939.2_Frame_Shift_Ins_p.HP1254fs|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000380936.1_Frame_Shift_Ins_p.HP1265fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Ins_p.HP1313fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1306					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CATATACACAGCCCCATTGTTC	0.421													27	230	---	---	---	---					
PPIP5K2	23262	broad.mit.edu	37	5	102537324	102537324	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:102537324delA	ENST00000321521.9	+	30	4231	c.3658delA	c.(3658-3660)aafs	p.K1222fs	PPIP5K2_ENST00000414217.1_Frame_Shift_Del_p.K1222fs|PPIP5K2_ENST00000358359.3_Frame_Shift_Del_p.K1243fs			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1243					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAACACTGGGAAAAAGAAATG	0.313													13	15	---	---	---	---					
MCC	4163	broad.mit.edu	37	5	112363035	112363037	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:112363035_112363037delCTC	ENST00000302475.4	-	17	3015_3017	c.2452_2454delGAG	c.(2452-2454)del	p.E818del	MCC_ENST00000515367.2_In_Frame_Del_p.E755del|MCC_ENST00000408903.3_In_Frame_Del_p.E1008del|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	818					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GCCTGGAGTTCTCCTCCTCTAGC	0.507													52	90	---	---	---	---					
KDM3B	51780	broad.mit.edu	37	5	137721747	137721749	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:137721747_137721749delAAG	ENST00000314358.5	+	7	1017_1019	c.817_819delAAG	c.(817-819)del	p.K275del		NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	275					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTCCAAAGGAAAGAAGAAGAGAG	0.419													65	142	---	---	---	---					
PSD2	84249	broad.mit.edu	37	5	139189297	139189298	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:139189297_139189298delAA	ENST00000274710.3	+	2	477_478	c.272_273delAA	c.(271-273)gfs	p.E91fs		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	91					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACATTCTGGAAGATTCAGCGG	0.619													77	150	---	---	---	---					
PCDHA12	0	broad.mit.edu	37	5	140255597	140255601	+	Frame_Shift_Del	DEL	TAAAA	TAAAA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140255597_140255601delTAAAA	ENST00000398631.2	+	1	540_544	c.540_544delTAAAA	c.(538-546)cttafs	p.LKI180fs	PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.L180L(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTTGAGCTTAAAATAAAAACAAA	0.366													20	82	---	---	---	---					
HIGD2A	192286	broad.mit.edu	37	5	175815916	175815917	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:175815916_175815917delAG	ENST00000274787.2	+	1	169_170	c.96_97delAG	c.(94-99)ccagfs	p.PE32fs	NOP16_ENST00000389158.5_5'UTR	NM_138820.2	NP_620175.1	Q9BW72	HIG2A_HUMAN	HIG1 hypoxia inducible domain family, member 2A	32	HIG1.					integral to membrane				large_intestine(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		ACAGGAATCCAGAGAGTTTCAA	0.564													94	154	---	---	---	---					
RP11-1252I4.2	0	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs70994948		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683													5	2	---	---	---	---					
SNAP91	9892	broad.mit.edu	37	6	84417562	84417563	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:84417562_84417563insT	ENST00000428679.2	-	2	677_678	c.84_85insA	c.(82-87)aaccacfs	p.NH28fs	SNAP91_ENST00000521743.1_Frame_Shift_Ins_p.NH28fs|SNAP91_ENST00000520213.1_Frame_Shift_Ins_p.NH28fs|SNAP91_ENST00000520302.1_Frame_Shift_Ins_p.NH28fs|SNAP91_ENST00000195649.6_Frame_Shift_Ins_p.NH28fs|SNAP91_ENST00000437520.1_Frame_Shift_Ins_p.NH28fs|SNAP91_ENST00000369694.2_Frame_Shift_Ins_p.NH28fs|SNAP91_ENST00000439399.2_Frame_Shift_Ins_p.NH28fs|SNAP91_ENST00000521485.1_Frame_Shift_Ins_p.NH28fs			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	28	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TGAGTAGTGGCTTTGCAGACCG	0.559													98	57	---	---	---	---					
LATS1	9113	broad.mit.edu	37	6	150005515	150005515	+	Frame_Shift_Del	DEL	G	G	-	rs56149740		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:150005515delG	ENST00000543571.1	-	4	1257	c.710delC	c.(709-711)cafs	p.P240fs	LATS1_ENST00000392273.3_Frame_Shift_Del_p.P240fs|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Frame_Shift_Del_p.P240fs	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	240					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AGGTGGTGGTGGGGGGTTCAC	0.532													18	149	---	---	---	---					
FKBP9	11328	broad.mit.edu	37	7	33014804	33014804	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:33014804delC	ENST00000242209.4	+	3	547	c.378delC	c.(376-378)atfs	p.I126fs	FKBP9_ENST00000538336.1_Frame_Shift_Del_p.I179fs|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CTGGTGTGATCCCCCCCAATT	0.443													33	71	---	---	---	---					
POLR2J4	0	broad.mit.edu	37	7	44055990	44055990	+	RNA	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:44055990delC	ENST00000427076.1	-	0	179					NR_003655.2																						CCCAGAGGGGCCCATTAAACA	0.483													20	322	---	---	---	---					
PON1	5444	broad.mit.edu	37	7	94931546	94931548	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:94931546_94931548delAGA	ENST00000222381.3	-	8	1109_1111	c.878_880delTCT	c.(877-882)tat>t	p.FY293del	PON1_ENST00000542556.1_In_Frame_Del_p.FY293del	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	293					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TCTGAGTCATAGAAGAAGATTTT	0.399													20	108	---	---	---	---					
MCM7	4176	broad.mit.edu	37	7	99690987	99690989	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:99690987_99690989delTCT	ENST00000303887.5	-	14	2529_2531	c.1884_1886delAGA	c.(1882-1887)gat>ga	p.ED628del	MCM7_ENST00000354230.3_In_Frame_Del_p.ED452del|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	628	Interaction with ATRIP.				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)	TTCATTCACATCTTCTTTCTCCA	0.527													107	209	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100353038	100353039	+	RNA	INS	-	-	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:100353038_100353039insC	ENST00000542585.1	+	0	3457				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TATGAGGTAAGCCCCCCGGGAT	0.545													9	179	---	---	---	---					
SLC13A4	26266	broad.mit.edu	37	7	135375977	135375977	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:135375977delC	ENST00000354042.4	-	13	2104	c.1415delG	c.(1414-1416)gafs	p.G473fs	C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	473						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						AGCATAGCCTCCCCCAACCAG	0.507													36	62	---	---	---	---					
EPHB6	0	broad.mit.edu	37	7	142561447	142561448	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:142561447_142561448insG	ENST00000392957.2	+	6	946_947	c.159_160insG	c.(157-162)ccggggfs	p.PG53fs	EPHB6_ENST00000442129.1_Frame_Shift_Ins_p.PG53fs|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	53						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCTACCCACCAGGGGGGGTGAG	0.574													7	165	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149506123	149506123	+	RNA	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:149506123delC	ENST00000378016.2	+	0	9121							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGGGCACCACCCCCAGGTCC	0.701													8	33	---	---	---	---					
SLC4A2	6522	broad.mit.edu	37	7	150761737	150761737	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:150761737delG	ENST00000485713.1	+	4	1382	c.342delG	c.(340-342)ccfs	p.P114fs	SLC4A2_ENST00000310317.5_Frame_Shift_Del_p.P32fs|SLC4A2_ENST00000413384.2_Frame_Shift_Del_p.P114fs|SLC4A2_ENST00000392826.2_Frame_Shift_Del_p.P105fs|SLC4A2_ENST00000461735.1_Frame_Shift_Del_p.P100fs	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	114	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGCCTCCCCGACTGGAGAAA	0.687													35	61	---	---	---	---					
CLU	1191	broad.mit.edu	37	8	27468075	27468076	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:27468075_27468076delAG	ENST00000316403.10	-	2	418_419	c.13_14delCT	c.(13-15)gfs	p.L7fs	CLU_ENST00000560366.1_Frame_Shift_Del_p.L59fs|CLU_ENST00000546343.1_Frame_Shift_Del_p.L18fs|CLU_ENST00000405140.3_Frame_Shift_Del_p.L7fs|CLU_ENST00000523500.1_Frame_Shift_Del_p.L7fs			P10909	CLUS_HUMAN	clusterin	7					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		AAACAGCAGCAGAGTCTTCATC	0.584													28	41	---	---	---	---					
MTFR1	9650	broad.mit.edu	37	8	66620197	66620197	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:66620197delA	ENST00000262146.4	+	7	1010	c.884delA	c.(883-885)gafs	p.E295fs	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Frame_Shift_Del_p.E262fs	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	295						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GATGAAGTTGAAAAAGGAATT	0.443													43	125	---	---	---	---					
VPS13B	157680	broad.mit.edu	37	8	100796702	100796702	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:100796702delC	ENST00000358544.2	+	43	8125	c.8014delC	c.(8014-8016)agfs	p.Q2672fs	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Frame_Shift_Del_p.Q2647fs	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2672					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAATCCCCACAGGTATTTGA	0.468													39	69	---	---	---	---					
TBC1D31	93594	broad.mit.edu	37	8	124105886	124105886	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:124105886delT	ENST00000287380.1	+	5	665	c.575delT	c.(574-576)atfs	p.I192fs	TBC1D31_ENST00000521676.1_Frame_Shift_Del_p.I87fs|TBC1D31_ENST00000378080.2_Frame_Shift_Del_p.I87fs|TBC1D31_ENST00000309336.3_Frame_Shift_Del_p.I192fs|TBC1D31_ENST00000327098.5_Frame_Shift_Del_p.I192fs|TBC1D31_ENST00000522420.1_Frame_Shift_Del_p.I87fs	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		GATAATTCCATTTTTGCCTGG	0.348													18	42	---	---	---	---					
FOXD4	2298	broad.mit.edu	37	9	117366	117367	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:117366_117367insG	ENST00000382500.2	-	1	1050_1051	c.753_754insC	c.(751-756)ccggagfs	p.E252fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	252	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGGCGTCTCCCGGGGCCGGTGT	0.728													8	69	---	---	---	---					
CCIN	881	broad.mit.edu	37	9	36170732	36170732	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:36170732delC	ENST00000335119.2	+	1	1344	c.1233delC	c.(1231-1233)atfs	p.I411fs		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	411					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			AGATGAGCATCCCCATGGATG	0.552													21	141	---	---	---	---					
RGS3	5998	broad.mit.edu	37	9	116246504	116246506	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:116246504_116246506delCTT	ENST00000374140.2	+	7	821_823	c.612_614delCTT	c.(610-615)cac>ca	p.HF204del	RGS3_ENST00000350696.5_In_Frame_Del_p.HF204del|RGS3_ENST00000317613.6_In_Frame_Del_p.HF92del	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	204	C2.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCACGAGCACTTCTTCTTGTAA	0.473													38	77	---	---	---	---					
PHF19	26147	broad.mit.edu	37	9	123624994	123624996	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123624994_123624996delCTT	ENST00000373896.3	-	11	1252_1254	c.1000_1002delAAG	c.(1000-1002)del	p.K334del	PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_In_Frame_Del_p.K125del	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAAGATGCACTTCTTCTTCTTG	0.606													64	374	---	---	---	---					
PPP1R26	9858	broad.mit.edu	37	9	138379043	138379043	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:138379043delG	ENST00000356818.2	+	4	3236	c.2687delG	c.(2686-2688)agfs	p.R896fs	PPP1R26_ENST00000604351.1_Frame_Shift_Del_p.R896fs|PPP1R26_ENST00000401470.3_Frame_Shift_Del_p.R896fs|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Frame_Shift_Del_p.R896fs|PPP1R26_ENST00000605286.1_Frame_Shift_Del_p.R896fs	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	896						nucleolus	protein binding										CAGAGGGCCAGGGGGGTCCCA	0.701													71	137	---	---	---	---					
TAF3	83860	broad.mit.edu	37	10	8007427	8007427	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:8007427delC	ENST00000344293.5	+	3	2160	c.1954delC	c.(1954-1956)ccfs	p.P653fs		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	653	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AGCCCCAGCACCCCCACTGGT	0.488													61	85	---	---	---	---					
ANKRD26	22852	broad.mit.edu	37	10	27322259	27322259	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:27322259delT	ENST00000376087.4	-	25	3867	c.3702delA	c.(3700-3702)aafs	p.K1234fs	ANKRD26_ENST00000436985.2_Frame_Shift_Del_p.K1250fs|ANKRD26_ENST00000376070.3_Frame_Shift_Del_p.K791fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1233						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ACATAGATTGTTTTTTTAGGG	0.323													23	63	---	---	---	---					
SVIL	6840	broad.mit.edu	37	10	29760116	29760116	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:29760116delC	ENST00000375398.2	-	33	6035	c.5586delG	c.(5584-5586)ggfs	p.G1862fs	PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375400.3_Frame_Shift_Del_p.G1436fs|SVIL_ENST00000355867.4_Frame_Shift_Del_p.G1862fs|SVIL_ENST00000535393.1_Frame_Shift_Del_p.G776fs|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000446807.1_RNA			O95425	SVIL_HUMAN	supervillin	1862					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GCACCACCATCCCCCCCTGGA	0.527													16	21	---	---	---	---					
SVIL	6840	broad.mit.edu	37	10	29822002	29822004	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:29822002_29822004delCTT	ENST00000375398.2	-	10	1741_1743	c.1292_1294delAAG	c.(1291-1296)ggg>g	p.EG435del	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_In_Frame_Del_p.EG435del			O95425	SVIL_HUMAN	supervillin	435					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				tctccttccccttcttcttcttc	0.498													12	48	---	---	---	---					
ZNF365	22891	broad.mit.edu	37	10	64159513	64159513	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:64159513delA	ENST00000395254.3	+	5	1469	c.1189delA	c.(1189-1191)aafs	p.K399fs	ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000466727.1_3'UTR	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAAAATGGCTAAAAAAAAGCC	0.527													12	45	---	---	---	---					
SLK	9748	broad.mit.edu	37	10	105727509	105727511	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105727509_105727511delCTT	ENST00000369755.3	+	1	551_553	c.6_8delCTT	c.(4-9)tcc>tc	p.SF2del	SLK_ENST00000335753.4_In_Frame_Del_p.SF2del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	2					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAAAAATGTCCTTCTTCAATTTC	0.483													41	157	---	---	---	---					
PWWP2B	170394	broad.mit.edu	37	10	134218375	134218375	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:134218375delC	ENST00000305233.5	+	2	430	c.371delC	c.(370-372)gcfs	p.A124fs	PWWP2B_ENST00000368609.4_Frame_Shift_Del_p.A124fs	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	124	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TTCGAAGGCGCCCCCTTCCCT	0.751													11	29	---	---	---	---					
TUBGCP2	10844	broad.mit.edu	37	10	135103416	135103418	+	In_Frame_Del	DEL	GTT	GTT	-	rs141945979	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:135103416_135103418delGTT	ENST00000368563.2	-	9	1626_1628	c.1270_1272delAAC	c.(1270-1272)del	p.N424del	TUBGCP2_ENST00000543663.1_In_Frame_Del_p.N452del|TUBGCP2_ENST00000368562.1_In_Frame_Del_p.N17del|TUBGCP2_ENST00000252936.3_In_Frame_Del_p.N424del|TUBGCP2_ENST00000417178.2_In_Frame_Del_p.N294del	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	424					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AGTACTTGTCGTTGTAATCCTCC	0.581													15	74	---	---	---	---					
IFITM1	8519	broad.mit.edu	37	11	314210	314210	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:314210delC	ENST00000408968.3	+	1	358	c.40delC	c.(40-42)ccfs	p.P15fs	IFITM1_ENST00000528780.1_Frame_Shift_Del_p.P15fs|IFITM1_ENST00000328221.5_Frame_Shift_Del_p.P15fs	NM_003641.3	NP_003632.3	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	15					negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCTGGGGCCACCCCCCAGCAC	0.562													22	136	---	---	---	---					
TSPAN4	0	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	CTG	-	rs61867552	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:864443_864445delCTG	ENST00000397404.1	+	5	521_523	c.262_264delCTG	c.(262-264)del	p.L92del	TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.650													7	221	---	---	---	---					
QSER1	79832	broad.mit.edu	37	11	32997894	32997895	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:32997894_32997895insA	ENST00000399302.2	+	13	5417_5418	c.5082_5083insA	c.(5080-5085)caaaaafs	p.QK1694fs	QSER1_ENST00000527788.1_Frame_Shift_Ins_p.QK1455fs	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1694										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CTTCGGTGCAGAAAAAAAATGA	0.292													20	45	---	---	---	---					
HIPK3	10114	broad.mit.edu	37	11	33308890	33308891	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:33308890_33308891insA	ENST00000303296.4	+	2	1235_1236	c.930_931insA	c.(928-933)ctaaaafs	p.LK310fs	HIPK3_ENST00000525975.1_Frame_Shift_Ins_p.LK310fs|HIPK3_ENST00000456517.1_Frame_Shift_Ins_p.LK310fs|HIPK3_ENST00000379016.3_Frame_Shift_Ins_p.LK310fs	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	310	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CCACTGCACTGAAAAAATTGAA	0.391													34	168	---	---	---	---					
OR8H1	219469	broad.mit.edu	37	11	56058354	56058354	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:56058354delA	ENST00000313022.2	-	1	212	c.185delT	c.(184-186)tcfs	p.F62fs		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GTGAGTAAGGAAAAAATACAT	0.403													10	354	---	---	---	---					
MTA2	9219	broad.mit.edu	37	11	62362913	62362916	+	Frame_Shift_Del	DEL	GAGA	GAGA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:62362913_62362916delGAGA	ENST00000278823.2	-	14	1692_1695	c.1303_1306delTCTC	c.(1303-1308)ctfs	p.SP435fs	MTA2_ENST00000524902.1_Frame_Shift_Del_p.SP262fs|MTA2_ENST00000527204.1_Frame_Shift_Del_p.SP262fs	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	435					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GTTGTGTAAGGAGAGAGACTTTGA	0.510													36	157	---	---	---	---					
SLC3A2	6520	broad.mit.edu	37	11	62649529	62649529	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:62649529delA	ENST00000377892.1	+	6	1209	c.985delA	c.(985-987)aafs	p.K331fs	SLC3A2_ENST00000377890.2_Frame_Shift_Del_p.K300fs|SLC3A2_ENST00000377891.2_Frame_Shift_Del_p.K301fs|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000535296.1_Frame_Shift_Del_p.K269fs|SLC3A2_ENST00000338663.7_Frame_Shift_Del_p.K199fs|SLC3A2_ENST00000377889.2_Frame_Shift_Del_p.K238fs			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	300					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	p.K331fs*31(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GCAATCGGCTAAAAAAAAGAG	0.463													57	65	---	---	---	---					
RCE1	9986	broad.mit.edu	37	11	66612694	66612696	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66612694_66612696delTCT	ENST00000309657.3	+	6	721_723	c.677_679delTCT	c.(676-681)atc>a	p.IF226del	RCE1_ENST00000525356.1_In_Frame_Del_p.IF103del|RCE1_ENST00000524506.1_In_Frame_Del_p.IF226del	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	226					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GTGGGGAACATCTTCTTGTCTGC	0.527													30	52	---	---	---	---					
TBX10	347853	broad.mit.edu	37	11	67402373	67402373	+	Frame_Shift_Del	DEL	G	G	-	rs144542807		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:67402373delG	ENST00000335385.3	-	3	378	c.291delC	c.(289-291)ccfs	p.P97fs		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	97					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TCACCTGGAAGGGGGGGAACA	0.677													43	58	---	---	---	---					
PCF11	51585	broad.mit.edu	37	11	82877339	82877340	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:82877339_82877340delAG	ENST00000298281.4	+	5	1852_1853	c.1400_1401delAG	c.(1399-1401)cfs	p.Q467fs		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	467					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TCAGAAAAACAGGGGACAAAAC	0.411													11	18	---	---	---	---					
CCDC15	80071	broad.mit.edu	37	11	124845049	124845049	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:124845049delA	ENST00000529051.1	+	5	833	c.574delA	c.(574-576)aafs	p.K194fs	CCDC15_ENST00000344762.5_Frame_Shift_Del_p.K194fs			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	194						centrosome		p.K194fs*29(5)|p.S196fs*6(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AACCGTGATTAAAAAAAAGGG	0.373													9	38	---	---	---	---					
CACNB3	784	broad.mit.edu	37	12	49221502	49221504	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49221502_49221504delGGA	ENST00000301050.2	+	13	1474_1476	c.1275_1277delGGA	c.(1273-1278)ctg>ct	p.LE425del	CACNB3_ENST00000547392.1_In_Frame_Del_p.LE398del|CACNB3_ENST00000547230.1_In_Frame_Del_p.LE384del|CACNB3_ENST00000540990.1_In_Frame_Del_p.LE412del|CACNB3_ENST00000536187.2_In_Frame_Del_p.LE424del	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	425					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	CCCGCCACCTGGAGGAGGACTAT	0.631													33	148	---	---	---	---					
OAS1	4938	broad.mit.edu	37	12	113354493	113354494	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:113354493_113354494insA	ENST00000452357.2	+	4	1024_1025	c.834_835insA	c.(832-837)ttaaaafs	p.LK278fs	OAS1_ENST00000551241.1_Frame_Shift_Ins_p.LK278fs|OAS1_ENST00000202917.5_Frame_Shift_Ins_p.LK278fs|OAS1_ENST00000445409.2_Frame_Shift_Ins_p.LK278fs|RP1-71H24.1_ENST00000552784.1_RNA	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	278					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						ATTATGACTTTAAAAACCCCAT	0.431													78	124	---	---	---	---					
TRAV9-2	0	broad.mit.edu	37	14	22409539	22409539	+	RNA	DEL	C	C	-	rs2178778		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:22409539delC	ENST00000390441.2	+	0	102																											ctctctctctctTTTTTTTTT	0.428													7	10	---	---	---	---					
GPATCH2L	55668	broad.mit.edu	37	14	76668169	76668173	+	Frame_Shift_Del	DEL	AAGAA	AAGAA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:76668169_76668173delAAGAA	ENST00000261530.7	+	10	1490_1494	c.1424_1428delAAGAA	c.(1423-1428)cfs	p.QE475fs	GPATCH2L_ENST00000556675.1_Intron|GPATCH2L_ENST00000312858.5_Frame_Shift_Del_p.QE470fs	NM_017926.2	NP_060396.2			G patch domain containing 2-like									p.E476*(1)									AAAATGCCACAAGAAAAGAGCCCTG	0.488													40	49	---	---	---	---					
UNC79	57578	broad.mit.edu	37	14	93963615	93963615	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:93963615delG	ENST00000553484.1	+	7	1035	c.881delG	c.(880-882)agfs	p.R294fs	UNC79_ENST00000393151.2_Frame_Shift_Del_p.R294fs|UNC79_ENST00000256339.4_Frame_Shift_Del_p.R117fs|UNC79_ENST00000555664.1_Frame_Shift_Del_p.R294fs			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	294						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGCGAGTACAGGGGGTTGCAG	0.493													28	16	---	---	---	---					
ZNF770	54989	broad.mit.edu	37	15	35274621	35274621	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:35274621delT	ENST00000356321.4	-	3	1359	c.1015delA	c.(1015-1017)tcfs	p.I339fs		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTGGCCAAGATTTTTTTAACA	0.328													11	26	---	---	---	---					
IL16	3603	broad.mit.edu	37	15	81592468	81592469	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:81592468_81592469insC	ENST00000394660.2	+	14	3161_3162	c.2801_2802insC	c.(2800-2802)cccfs	p.P934fs	IL16_ENST00000394652.2_Frame_Shift_Ins_p.P233fs|IL16_ENST00000302987.4_Frame_Shift_Ins_p.P934fs	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	934				L -> F (in Ref. 1; AAD04636).	immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CAGAAAACTCTCCCCCCTGGCC	0.644													10	157	---	---	---	---					
TSR3	115939	broad.mit.edu	37	16	1400178	1400180	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:1400178_1400180delAAG	ENST00000007390.2	-	4	688_690	c.582_584delCTT	c.(580-585)ttg>tt	p.FL194del		NM_001001410.2	NP_001001410.1			TSR3, 20S rRNA accumulation, homolog (S. cerevisiae)																		GTTCAGGTCCAAGAAGCCCTTGC	0.591													21	44	---	---	---	---					
CHD9	80205	broad.mit.edu	37	16	53260306	53260307	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:53260306_53260307insA	ENST00000566029.1	+	5	2134_2135	c.1925_1926insA	c.(1924-1926)aaafs	p.K642fs	CHD9_ENST00000564845.1_Frame_Shift_Ins_p.K642fs|CHD9_ENST00000447540.1_Frame_Shift_Ins_p.K642fs|CHD9_ENST00000398510.3_Frame_Shift_Ins_p.K642fs			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	642	Lys-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAAATTAAAAGAAAAAAATACG	0.292													8	28	---	---	---	---					
FAM65A	79567	broad.mit.edu	37	16	67572573	67572575	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67572573_67572575delAGG	ENST00000379312.3	+	3	236_238	c.115_117delAGG	c.(115-117)del	p.R39del	FAM65A_ENST00000540839.3_Splice_Site_p.55_splice|FAM65A_ENST00000428437.2_Splice_Site_p.49_splice|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000422602.2_Splice_Site_p.55_splice|FAM65A_ENST00000042381.4_Splice_Site_p.35_splice|FAM65A_ENST00000566522.1_Intron	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	39						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCTCTCCTTCAGGAGTTTCCCGG	0.660													87	91	---	---	---	---					
NUDT7	283927	broad.mit.edu	37	16	77775744	77775744	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:77775744delA	ENST00000268533.5	+	4	683	c.614delA	c.(613-615)gafs	p.E205fs	NUDT7_ENST00000437314.3_Frame_Shift_Del_p.E152fs|NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000564031.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	205					nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						ATCATTTTGGAAAAAAAACCC	0.383													43	53	---	---	---	---					
ATMIN	23300	broad.mit.edu	37	16	81076800	81076801	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:81076800_81076801delTG	ENST00000566488.1	+	3	1192_1193	c.229_230delTG	c.(229-231)tfs	p.C77fs	ATMIN_ENST00000299575.4_Frame_Shift_Del_p.C233fs|ATMIN_ENST00000564241.1_Frame_Shift_Del_p.C77fs|ATMIN_ENST00000539819.1_3'UTR			O43313	ATMIN_HUMAN	ATM interactor	233					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AATGGAAAACTGTGCACAAAAC	0.376													22	70	---	---	---	---					
GPS2	2874	broad.mit.edu	37	17	7216932	7216935	+	Frame_Shift_Del	DEL	AGTG	AGTG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7216932_7216935delAGTG	ENST00000380728.2	-	7	886_889	c.586_589delCACT	c.(586-591)atfs	p.HY196fs	GPS2_ENST00000389167.5_Frame_Shift_Del_p.HY196fs|GPS2_ENST00000391950.3_Frame_Shift_Del_p.HY196fs|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	196					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GTGGGCCCATAGTGAGGTGGGGGC	0.574											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	103	38	---	---	---	---					
KCNAB3	9196	broad.mit.edu	37	17	7829255	7829255	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7829255delC	ENST00000303790.2	-	6	487	c.488delG	c.(487-489)gafs	p.G164fs	RP11-1099M24.7_ENST00000573621.1_3'UTR	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	164						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				TTACTGTCCTCCCCAAAAAAT	0.498													10	201	---	---	---	---					
ALDH3A1	218	broad.mit.edu	37	17	19641649	19641649	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:19641649delG	ENST00000457500.2	-	9	1663	c.1334delC	c.(1333-1335)cgfs	p.P445fs	ALDH3A1_ENST00000395555.3_Frame_Shift_Del_p.P381fs|ALDH3A1_ENST00000444455.1_Frame_Shift_Del_p.P445fs|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000494157.2_Frame_Shift_Del_p.P372fs|ALDH3A1_ENST00000225740.6_Frame_Shift_Del_p.P445fs	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	445					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GGCCGGGCTCGGGGGGTATCT	0.627													139	68	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29562657	29562660	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:29562657_29562660delTGTT	ENST00000358273.4	+	28	4120_4123	c.3737_3740delTGTT	c.(3736-3741)ctfs	p.LF1246fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.LF1246fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1246	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.F1247fs*16(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGGTTACTCTGTTTGATTCTCGG	0.412			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			236	87	---	---	---	---					
FBXL20	84961	broad.mit.edu	37	17	37420470	37420471	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:37420470_37420471delAT	ENST00000264658.6	-	14	1420_1421	c.1160_1161delAT	c.(1159-1161)tfs	p.Y387fs	FBXL20_ENST00000577399.1_Frame_Shift_Del_p.Y389fs|FBXL20_ENST00000583610.1_Frame_Shift_Del_p.Y387fs|FBXL20_ENST00000394294.3_Frame_Shift_Del_p.Y355fs	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	387						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			GCTGGCAGTCATAGAGTTCTAT	0.480													166	77	---	---	---	---					
PLEKHH3	79990	broad.mit.edu	37	17	40820242	40820244	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:40820242_40820244delGGA	ENST00000293349.6	-	13	2704_2706	c.2274_2276delTCC	c.(2272-2277)cca>cc	p.PP758del	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_In_Frame_Del_p.PP761del|PLEKHH3_ENST00000412503.1_In_Frame_Del_p.PP584del			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	761	Poly-Ser.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GTCTTGGCATGGAGGAGAAGAGC	0.650													40	15	---	---	---	---					
MGAT5B	146664	broad.mit.edu	37	17	74878237	74878237	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:74878237delG	ENST00000569840.2	+	3	760	c.186delG	c.(184-186)atfs	p.M62fs	MGAT5B_ENST00000301618.4_Frame_Shift_Del_p.M62fs|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Frame_Shift_Del_p.M73fs|MGAT5B_ENST00000565675.1_Frame_Shift_Del_p.M62fs	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	62						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCACAGTGATGGGGGGCCCCG	0.662													7	79	---	---	---	---					
HGS	9146	broad.mit.edu	37	17	79660715	79660717	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:79660715_79660717delAGG	ENST00000329138.4	+	10	908_910	c.773_775delAGG	c.(772-777)cag>c	p.QE258del		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	258	Interaction with SNX1 (By similarity).				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			ACGGCCCTGCAGGAGGAGGAGGA	0.729													6	5	---	---	---	---					
SERPINB11	89778	broad.mit.edu	37	18	61388269	61388270	+	RNA	INS	-	-	AC	rs147551453	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:61388269_61388270insAC	ENST00000544088.1	+	0	836				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TGTGCATGTTAACACACACACA	0.386													4	5	---	---	---	---					
ADNP2	22850	broad.mit.edu	37	18	77896426	77896426	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:77896426delA	ENST00000262198.4	+	4	3585	c.3130delA	c.(3130-3132)aafs	p.K1045fs		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1045					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATTAGATCCTAAAAAATATGA	0.358													34	29	---	---	---	---					
MCOLN1	57192	broad.mit.edu	37	19	7594070	7594072	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:7594070_7594072delCTT	ENST00000264079.6	+	10	1343_1345	c.1218_1220delCTT	c.(1216-1221)acc>ac	p.TF406del		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	406					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTACCTGACCTTCTTCCACAAC	0.581													21	83	---	---	---	---					
MAVS	57506	broad.mit.edu	37	20	3845039	3845041	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:3845039_3845041delCTC	ENST00000428216.2	+	6	890_892	c.762_764delCTC	c.(760-765)ttc>tt	p.FS254del	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_In_Frame_Del_p.FS113del	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	254					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GCACCTCCTTCTCCTCCTCATCC	0.626													53	115	---	---	---	---					
GTSF1L	149699	broad.mit.edu	37	20	42354972	42354972	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:42354972delA	ENST00000373003.1	-	1	666	c.363delT	c.(361-363)ttfs	p.F121fs	GTSF1L_ENST00000373005.2_Frame_Shift_Del_p.F96fs	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	121							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCTTTTGAGGAAAAAAAGTCT	0.493													18	112	---	---	---	---					
SALL4	57167	broad.mit.edu	37	20	50400983	50400983	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:50400983delC	ENST00000217086.4	-	4	3094	c.2983delG	c.(2983-2985)ttfs	p.V995fs	SALL4_ENST00000395997.3_Frame_Shift_Del_p.V558fs|SALL4_ENST00000371539.3_Frame_Shift_Del_p.V218fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	995					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGGTAGGAACCCCCCCACTC	0.562													24	116	---	---	---	---					
ZNF831	128611	broad.mit.edu	37	20	57769140	57769140	+	Frame_Shift_Del	DEL	G	G	-	rs55786258	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:57769140delG	ENST00000371030.2	+	1	3066	c.3066delG	c.(3064-3066)ttfs	p.L1022fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1022						intracellular	nucleic acid binding|zinc ion binding	p.D1025fs*9(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGCACAGTTGGGGGGGGACA	0.682													18	57	---	---	---	---					
TNFRSF6B	8771	broad.mit.edu	37	20	62328415	62328417	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:62328415_62328417delGAG	ENST00000369996.1	+	1	395_397	c.295_297delGAG	c.(295-297)del	p.E101del	RTEL1-TNFRSF6B_ENST00000482936.1_Stop_Codon_Del|RTEL1_ENST00000318100.4_Stop_Codon_Del	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	101					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CGGGGAGCGTGAGGAGGAGGCAC	0.670													9	35	---	---	---	---					
DIP2A	23181	broad.mit.edu	37	21	47954526	47954527	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:47954526_47954527insG	ENST00000318711.7	+	13	1754_1755	c.1571_1572insG	c.(1570-1572)gggfs	p.G524fs	DIP2A_ENST00000466639.1_Frame_Shift_Ins_p.G480fs|DIP2A_ENST00000427143.2_Frame_Shift_Ins_p.G459fs|DIP2A_ENST00000417564.2_Frame_Shift_Ins_p.G523fs|DIP2A_ENST00000400274.1_Frame_Shift_Ins_p.G519fs|DIP2A_ENST00000457905.3_Frame_Shift_Ins_p.G523fs|DIP2A_ENST00000435722.3_Frame_Shift_Ins_p.G523fs	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	523					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGCAGTACGGTGGGGGTCACAG	0.535													26	32	---	---	---	---					
YWHAH	7533	broad.mit.edu	37	22	32352168	32352170	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:32352168_32352170delCTC	ENST00000248975.5	+	2	403_405	c.130_132delCTC	c.(130-132)del	p.L45del	YWHAH_ENST00000397492.1_3'UTR|YWHAH_ENST00000471374.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide	45					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						AGATCGAAATCTCCTCTCTGTGG	0.438													18	118	---	---	---	---					
CSF2RB	1439	broad.mit.edu	37	22	37333546	37333546	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:37333546delC	ENST00000262825.5	+	14	1931	c.1714delC	c.(1714-1716)ccfs	p.P573fs	CSF2RB_ENST00000406230.1_Frame_Shift_Del_p.P573fs|CSF2RB_ENST00000403662.3_Frame_Shift_Del_p.P567fs|CSF2RB_ENST00000536485.1_Frame_Shift_Del_p.P514fs	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	567					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CACAGAGCAGCCCCCCAGCCC	0.637													7	52	---	---	---	---					
SHROOM2	357	broad.mit.edu	37	X	9900853	9900853	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:9900853delC	ENST00000380913.3	+	6	3620	c.3530delC	c.(3529-3531)gcfs	p.A1177fs	SHROOM2_ENST00000418909.2_Frame_Shift_Del_p.A12fs|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1177					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCCCAGTTCGCCCCCCAGAAA	0.627													23	43	---	---	---	---					
ACOT9	23597	broad.mit.edu	37	X	23723697	23723698	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:23723697_23723698insA	ENST00000379303.5	-	13	1075_1076	c.947_948insT	c.(946-948)taafs	p.*316fs	ACOT9_ENST00000379295.1_Frame_Shift_Ins_p.*247fs|ACOT9_ENST00000336430.7_Frame_Shift_Ins_p.*307fs	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	307					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						AGATCCGATTGAAAATGTTCCG	0.401													97	36	---	---	---	---					
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)gaafs	p.E591fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													8	564	---	---	---	---					
SLC6A14	11254	broad.mit.edu	37	X	115582769	115582770	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:115582769_115582770insT	ENST00000371900.4	+	8	1181_1182	c.1093_1094insT	c.(1093-1095)tttfs	p.F365fs		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	365					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TGGATTTGCTATTTTTTCTATA	0.332													157	49	---	---	---	---					
USP26	83844	broad.mit.edu	37	X	132161205	132161205	+	Frame_Shift_Del	DEL	A	A	-	rs61758857		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:132161205delA	ENST00000511190.1	-	6	1513	c.1044delT	c.(1042-1044)ttfs	p.F348fs	USP26_ENST00000406273.1_Frame_Shift_Del_p.F348fs|USP26_ENST00000370832.1_Frame_Shift_Del_p.F348fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	348					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.F348fs*7(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AGGTATCTTTAAAAAAAAGTA	0.388													84	37	---	---	---	---					
ATP11C	286410	broad.mit.edu	37	X	138869332	138869334	+	Splice_Site	DEL	TCT	TCT	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:138869332_138869334delTCT	ENST00000370557.1	-	15	2617_2619	c.1592_splice	c.e15+1	p.EE530_splice	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Splice_Site_p.EE533_splice|ATP11C_ENST00000327569.3_Splice_Site_p.EE533_splice|ATP11C_ENST00000361648.2_Splice_Site_p.EE533_splice|ATP11C_ENST00000359686.2_Splice_Site_p.EE533_splice			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	533					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AGCTACTTACTCTTCTATTTCTT	0.345													28	14	---	---	---	---					
FAM50A	9130	broad.mit.edu	37	X	153678435	153678437	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:153678435_153678437delGGA	ENST00000393600.3	+	11	998_1000	c.888_890delGGA	c.(886-891)gtg>gt	p.VE296del		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	296					spermatogenesis	nucleus		p.E297*(1)		breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACGCCACTGTGGAGAAGGATGAG	0.616													93	63	---	---	---	---