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
NRP1	8829	broad.mit.edu	37	10	33491727	33491727	+	Silent	SNP	C	C	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr10:33491727C>A	ENST00000374823.5	-	11	1955	c.1956G>T	c.(1954-1956)ccG>ccT	p.P652P	NRP1_ENST00000395995.1_Intron|NRP1_ENST00000374821.5_Intron|NRP1_ENST00000466932.1_Intron|NRP1_ENST00000374822.4_Intron|NRP1_ENST00000374867.2_Intron|NRP1_ENST00000265371.4_Intron			O14786	NRP1_HUMAN	neuropilin 1	0	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CTCTGCCATGCGGAGTTACAA	0.478000													6	39					0.00116845	0.00118188	1	1	0
DSG1	1828	broad.mit.edu	37	18	28919899	28919899	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr18:28919899G>A	ENST00000257192.4	+	11	1810	c.1598G>A	c.(1597-1599)gGa>gAa	p.G533E		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	533					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TCTGAACCCGGAAACGGAGCC	0.408000													13	117					0	0	1	0	0
RBM4	5936	broad.mit.edu	37	11	66407505	66407505	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr11:66407505A>G	ENST00000409406.1	+	1	1100	c.323A>G	c.(322-324)gAc>gGc	p.D108G	RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000310092.7_Missense_Mutation_p.D108G|RBM4_ENST00000483858.1_Missense_Mutation_p.D108G|RBM4_ENST00000506523.2_Missense_Mutation_p.D108G|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000408993.2_Missense_Mutation_p.D108G|RBM4_ENST00000578778.1_Missense_Mutation_p.D108G|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_Missense_Mutation_p.D108G|RBM4_ENST00000532968.1_Missense_Mutation_p.D108G|RBM4_ENST00000398692.4_Missense_Mutation_p.D108G|RBM4_ENST00000396053.4_Missense_Mutation_p.D108G|RBM4_ENST00000530235.1_Missense_Mutation_p.D108G					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		ATCGAATGTGACATCGTGAAA	0.507000													5	265					0	0	1	0	0
EIF2AK1	27102	broad.mit.edu	37	7	6085709	6085709	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr7:6085709C>T	ENST00000199389.6	-	6	769	c.623G>A	c.(622-624)tGc>tAc	p.C208Y	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.C84Y|EIF2AK1_ENST00000495565.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	208	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TACCTTCATGCAAACTGTTTT	0.259000													6	71					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1248620	1248620	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:1248620C>T	ENST00000348261.5	+	6	897	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	CACNA1H_ENST00000565831.1_Missense_Mutation_p.R217W|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R217W	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	217					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)	CACAGGCATGCGGatcctggt	0.637000													5	109					0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96322292	96322292	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:96322292A>G	ENST00000231368.5	+	4	1741	c.1049A>G	c.(1048-1050)gAg>gGg	p.E350G	LNPEP_ENST00000395770.3_Missense_Mutation_p.E336G	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	350					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GAGTTTTCTGAGAGTGTGAAG	0.413000													33	98					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256512	140256512	+	Silent	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:140256512G>A	ENST00000398631.2	+	1	1455	c.1455G>A	c.(1453-1455)caG>caA	p.Q485Q	PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														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)			CGGACGCGCAGAAGAACGCGC	0.667000													7	127					0	0	1	0	0
SCLY	51540	broad.mit.edu	37	2	238990769	238990769	+	Silent	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:238990769G>A	ENST00000254663.6	+	6	862	c.720G>A	c.(718-720)acG>acA	p.T240T	SCLY_ENST00000429612.2_Intron|SCLY_ENST00000373332.3_Silent_p.T150T|SCLY_ENST00000555827.1_Silent_p.T232T|SCLY_ENST00000409736.2_Silent_p.T232T|SCLY_ENST00000422984.2_Silent_p.T138T	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	232					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		TCGTGCACACGGATGCTGCAC	0.592000													8	155					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51758105	51758105	+	Silent	SNP	C	C	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr12:51758105C>A	ENST00000543196.2	-	5	1054	c.849G>T	c.(847-849)ctG>ctT	p.L283L	GALNT6_ENST00000356317.3_Silent_p.L283L			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	283	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CGATTCGAGCCAGGAGGGGCT	0.622000													26	17					2.48779e-11	2.66983e-11	1	1	0
FAM193A	8603	broad.mit.edu	37	4	2733563	2733563	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:2733563A>T	ENST00000324666.5	+	20	4117	c.3766A>T	c.(3766-3768)Agc>Tgc	p.S1256C	FAM193A_ENST00000502458.1_Missense_Mutation_p.S1237C|FAM193A_ENST00000505311.1_3'UTR|FAM193A_ENST00000382839.3_Missense_Mutation_p.S1215C	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1256										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GTCCAATTTTAGCTTGAAAAA	0.527000													185	213					0	0	1	0	0
AC096579.13	0	broad.mit.edu	37	2	89111089	89111089	+	RNA	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:89111089G>A	ENST00000452230.1	-	0	315																											AGCTGCTTTCGGGGAGAAATA	0.468000													15	17					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150529665	150529665	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:150529665G>A	ENST00000271643.4	+	12	2137	c.1901G>A	c.(1900-1902)cGc>cAc	p.R634H	ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.R634H|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R657H|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R634H	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	634	Pro-rich.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	p.R634H(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCGGCACCCCGCCCAGCCCGG	0.711000													10	45					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857217	9857217	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:9857217G>A	ENST00000396573.2	-	14	4493	c.4184C>T	c.(4183-4185)gCg>gTg	p.A1395V	GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1281W|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R1124W|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A1395V|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1281W|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A1395V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1395					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCATTCACCGCCTGGGATGG	0.537000													45	49					0	0	1	0	0
EVPLL	645027	broad.mit.edu	37	17	18286168	18286168	+	Silent	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:18286168G>A	ENST00000399134.4	+	6	859	c.501G>A	c.(499-501)ccG>ccA	p.P167P	RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like	167										NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGCCAATACCGAGACCTACTG	0.692000													10	27					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13095516	13095516	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr18:13095516C>G	ENST00000506447.1	+	35	6349	c.6269C>G	c.(6268-6270)tCt>tGt	p.S2090C	CEP192_ENST00000325971.8_Missense_Mutation_p.S1494C|CEP192_ENST00000430049.2_Missense_Mutation_p.S1615C|CEP192_ENST00000540847.2_3'UTR	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1685										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTGGGAGCTTCTGGGAAACAT	0.433000													27	335					0	0	1	0	0
TSPAN1	10103	broad.mit.edu	37	1	46649973	46649973	+	Silent	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:46649973G>A	ENST00000372003.1	+	4	632	c.168G>A	c.(166-168)gtG>gtA	p.V56V	TSPAN1_ENST00000498443.1_3'UTR	NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN	tetraspanin 1	56						integral to membrane|lysosomal membrane				kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				TTGTCAACGTGGGCTACTTCC	0.567000													22	62					0	0	1	0	0
TPM1	7168	broad.mit.edu	37	15	63351860	63351860	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr15:63351860C>T	ENST00000357980.4	+	5	678	c.599C>T	c.(598-600)gCc>gTc	p.A200V	TPM1_ENST00000317516.7_Missense_Mutation_p.A122V|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000358278.3_Missense_Mutation_p.A158V|TPM1_ENST00000403994.3_Missense_Mutation_p.A158V|TPM1_ENST00000334895.5_Missense_Mutation_p.A122V|TPM1_ENST00000404484.4_Missense_Mutation_p.A122V|TPM1_ENST00000559397.1_Missense_Mutation_p.A158V|TPM1_ENST00000559281.1_Missense_Mutation_p.A122V|TPM1_ENST00000559556.1_Missense_Mutation_p.A158V|TPM1_ENST00000267996.7_Missense_Mutation_p.A158V|TPM1_ENST00000560959.1_Missense_Mutation_p.A122V|TPM1_ENST00000288398.6_Missense_Mutation_p.A158V			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	158					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						GCTGAAGATGCCGACCGCAAA	0.488000													4	78					0	0	1	0	0
ZNF32	7580	broad.mit.edu	37	10	44140203	44140203	+	Silent	SNP	T	T	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr10:44140203T>C	ENST00000395797.1	-	3	305	c.117A>G	c.(115-117)acA>acG	p.T39T	ZNF32_ENST00000374433.2_Silent_p.T39T|ZNF32_ENST00000485351.1_5'UTR|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TTGAGGATCCTGTAGCCTCAG	0.423000													39	111					0	0	1	0	0
EIF4A1	1973	broad.mit.edu	37	17	7479955	7479955	+	Silent	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:7479955C>T	ENST00000293831.8	+	5	475	c.459C>T	c.(457-459)caC>caT	p.H153H	SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000577269.1_Silent_p.H153H|EIF4A1_ENST00000582746.1_Silent_p.H153H	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	153	Helicase ATP-binding.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						AAGCTCCCCACATCATCGTGG	0.552000													12	130					0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87470217	87470217	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr8:87470217A>G	ENST00000517970.1	+	22	2769	c.2462A>G	c.(2461-2463)tAt>tGt	p.Y821C	WWP1_ENST00000349423.2_Missense_Mutation_p.Y603C|WWP1_ENST00000341922.2_Missense_Mutation_p.Y691C|WWP1_ENST00000265428.4_Missense_Mutation_p.Y821C	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	821	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TATCGACATTATACAAGAAAC	0.368000													30	102					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90500168	90500168	+	Missense_Mutation	SNP	C	C	G	rs145620478		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr9:90500168C>G	ENST00000325643.5	+	4	832	c.766C>G	c.(766-768)Cca>Gca	p.P256A		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GGCCTCCTCTCCACCTCCACC	0.632000													23	54					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196706756	196706756	+	Silent	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:196706756C>T	ENST00000367429.4	+	17	2988	c.2748C>T	c.(2746-2748)taC>taT	p.Y916Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	916	Sushi 15.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAACATGCTACATGGGAAAAT	0.358000													11	105					0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	A	G	rs138128932	by1000genomes	TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr18:47363917A>G	ENST00000285039.7	-	37	5407	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	SCARNA17_ENST00000589499.1_RNA|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1703	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.V1703A(5)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAAGAGCAGACGTCCTTCCG	0.527000													3	50					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167273361	167273361	+	Silent	SNP	T	T	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:167273361T>A	ENST00000409855.1	-	20	3396	c.3270A>T	c.(3268-3270)ccA>ccT	p.P1090P		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1090					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CTCCACTTGTTGGGTCAATGC	0.398000													7	54					0	0	1	0	0
PYGO1	26108	broad.mit.edu	37	15	55838490	55838490	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr15:55838490G>A	ENST00000302000.6	-	3	1085	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	PYGO1_ENST00000563719.1_Missense_Mutation_p.R331C	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	331					Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TGGCCATGACGGTTTGGGTGA	0.478000													69	192					0	0	1	0	0
ABHD1	84696	broad.mit.edu	37	2	27353219	27353219	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:27353219T>G	ENST00000316470.4	+	8	1055	c.941T>G	c.(940-942)aTa>aGa	p.I314R		NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	314						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAACCAAGATAGATGCCATC	0.522000													72	176					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113484897	113484897	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr8:113484897A>T	ENST00000297405.5	-	32	5562	c.5318T>A	c.(5317-5319)gTt>gAt	p.V1773D	CSMD3_ENST00000455883.2_Missense_Mutation_p.V1669D|CSMD3_ENST00000343508.3_Missense_Mutation_p.V1733D|CSMD3_ENST00000352409.3_Missense_Mutation_p.V1773D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1773	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGTGATAGAACAGTGCCTTC	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			99	131					0	0	1	0	0
GOLGA5	9950	broad.mit.edu	37	14	93263802	93263802	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr14:93263802T>C	ENST00000163416.2	+	2	276	c.20T>C	c.(19-21)cTt>cCt	p.L7P	GOLGA5_ENST00000355976.2_Missense_Mutation_p.L7P	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN	golgin A5	7					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TTTGTTGATCTTGCTGGAAAG	0.408000			T	RET	papillary thyroid								21	117					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100339997	100339997	+	RNA	SNP	G	G	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr15:100339997G>C	ENST00000341853.1	-	0	929					NR_003260.1																						GTGTCTTCTCGTTCCCACGCG	0.612000													4	55					0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701389	192701389	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:192701389C>T	ENST00000304141.4	-	2	867	c.538G>A	c.(538-540)Gtg>Atg	p.V180M		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	180						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TTCCCTTCCACGGCACCGGAA	0.498000													4	81					0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45494630	45494630	+	Splice_Site	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:45494630C>T	ENST00000541297.2	+	12	1977	c.1513_splice	c.e12+1	p.F504_splice	CLPTM1_ENST00000546079.1_Splice_Site_p.F416_splice|CLPTM1_ENST00000337392.5_Splice_Site_p.F518_splice			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	518					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TGCTGACCTTCGGTGAGCGGT	0.642000													96	38					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109377664	109377664	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:109377664G>T	ENST00000370001.3	-	8	1819	c.1551C>A	c.(1549-1551)caC>caA	p.H517Q	AKNAD1_ENST00000369994.1_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.H517Q|AKNAD1_ENST00000357393.4_Missense_Mutation_p.H224Q	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	517										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GGTGGCCGGGGTGCTCCTTGG	0.607000													28	23					2.65835e-16	2.90602e-16	1	1	0
TRIM42	287015	broad.mit.edu	37	3	140401991	140401991	+	Silent	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr3:140401991G>A	ENST00000286349.3	+	2	1220	c.1029G>A	c.(1027-1029)aaG>aaA	p.K343K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	343						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCATCGCCAAGTTCAAAGCAG	0.542000													17	46					0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53927258	53927258	+	Silent	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:53927258C>T	ENST00000371445.3	+	2	745	c.690C>T	c.(688-690)ggC>ggT	p.G230G	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	230	Pro-rich.				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						CCCCTCCTGGCGTCCCCCTGC	0.672000													22	50					0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42286824	42286824	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:42286824C>T	ENST00000302904.4	-	17	2293	c.1801G>A	c.(1801-1803)Ggc>Agc	p.G601S	UBTF_ENST00000529383.1_Missense_Mutation_p.G601S|UBTF_ENST00000343638.5_Missense_Mutation_p.G564S|UBTF_ENST00000533177.1_Missense_Mutation_p.G564S|UBTF_ENST00000526094.1_Missense_Mutation_p.G564S|UBTF_ENST00000436088.1_Missense_Mutation_p.G601S|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000393606.3_Missense_Mutation_p.G564S|UBTF_ENST00000527034.1_Missense_Mutation_p.G564S			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	601					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CAGCGACTGCCGATCTCCACC	0.597000													16	67					0	0	1	0	0
NEDD8	4738	broad.mit.edu	37	14	24687636	24687636	+	Splice_Site	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr14:24687636G>A	ENST00000250495.5	-	2	206	c.18_splice	c.e2-1	p.T7_splice	NEDD8-MDP1_ENST00000604306.1_5'UTR|NEDD8_ENST00000524927.1_Splice_Site_p.T7_splice|NEDD8-MDP1_ENST00000534348.1_Splice_Site_p.T7_splice	NM_006156.2	NP_006147.1			neural precursor cell expressed, developmentally down-regulated 8											breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5				GBM - Glioblastoma multiforme(265;0.0186)		TCCGGTCAGCGTCTGAAACAG	0.428000													8	43					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728276	20728276	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:20728276T>A	ENST00000427401.4	-	4	827	c.733A>T	c.(733-735)Act>Tct	p.T245S		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	245					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTATGTGCAGTAAGGTATGAA	0.408000													32	77					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520358	33520358	+	Silent	SNP	A	A	G	rs74740601	by1000genomes	TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:33520358A>G	ENST00000297307.5	-	1	1054	c.969T>C	c.(967-969)atT>atC	p.I323I		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	323	DUF6 2.					integral to membrane		p.I323I(1)									TCTGGGCTGTAATGATGGCAA	0.547000													5	116					0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102445969	102445969	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:102445969C>G	ENST00000413150.2	+	6	476	c.421C>G	c.(421-423)Ctg>Gtg	p.L141V	MAP4K4_ENST00000456652.1_Missense_Mutation_p.L141V|MAP4K4_ENST00000425019.1_Missense_Mutation_p.L141V|MAP4K4_ENST00000324219.4_Missense_Mutation_p.L141V|MAP4K4_ENST00000302217.5_Missense_Mutation_p.L141V|MAP4K4_ENST00000347699.4_Missense_Mutation_p.L141V|MAP4K4_ENST00000350878.4_Missense_Mutation_p.L121V|MAP4K4_ENST00000350198.4_Missense_Mutation_p.L141V	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	141	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TATTCAGGGACTGGCACATCT	0.413000													8	18					0	0	1	0	0
SURF4	6836	broad.mit.edu	37	9	136230344	136230344	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr9:136230344C>T	ENST00000485435.2	-	6	605	c.476G>A	c.(475-477)gGc>gAc	p.G159D	SURF4_ENST00000371989.3_3'UTR|SURF4_ENST00000545297.1_3'UTR			O15260	SURF4_HUMAN	surfeit 4	0						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CGGGTCTTAGCCAGGCAGGTA	0.567000													9	26					0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71593320	71593320	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr8:71593320G>T	ENST00000408926.3	+	3	561	c.27G>T	c.(25-27)atG>atT	p.M9I	XKR9_ENST00000520030.1_Missense_Mutation_p.M9I|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	9						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AGAATTTTATGATGTCAGTTC	0.308000													61	127					8.52529e-16	9.26204e-16	1	1	0
CDH9	1007	broad.mit.edu	37	5	26906947	26906947	+	Splice_Site	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:26906947C>T	ENST00000231021.4	-	4	696	c.523_splice	c.e4-1	p.G175_splice		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	175	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AACAGATGTACCTACATGAAA	0.373000													29	85					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110467081	110467081	+	Splice_Site	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr8:110467081G>A	ENST00000378402.5	+	45	6978	c.6874_splice	c.e45+1	p.G2292_splice		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2292	G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGATCTGCACGGTACTGTGGC	0.493000										HNSCC(38;0.096)			23	42					0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110763810	110763810	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr6:110763810G>C	ENST00000368919.3	-	4	886	c.820C>G	c.(820-822)Ctc>Gtc	p.L274V	SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000330550.4_Missense_Mutation_p.L240V|SLC22A16_ENST00000439654.1_Missense_Mutation_p.L274V	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	274					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		ACTGTGGAGAGGATCATCTGG	0.493000													17	69					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15613095	15613095	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chrX:15613095A>G	ENST00000427411.1	-	3	434	c.218T>C	c.(217-219)tTa>tCa	p.L73S	ACE2_ENST00000252519.3_Missense_Mutation_p.L73S	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	73					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CTGTTCCTTTAAAAAGGCAGA	0.398000													91	70					0	0	1	0	0
CNOT7	29883	broad.mit.edu	37	8	17088314	17088314	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr8:17088314T>C	ENST00000361272.4	-	7	1071	c.773A>G	c.(772-774)cAt>cGt	p.H258R		NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	258					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		GCCATACAAATGACCACAATA	0.353000													9	90					0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27113950	27113950	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr21:27113950T>C	ENST00000354828.3	+	2	568	c.41T>C	c.(40-42)aTt>aCt	p.I14T	GABPA_ENST00000400075.3_Missense_Mutation_p.I14T|GABPA_ENST00000487266.1_Intron	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	14					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						GAAATTGAGATTGATGGAACA	0.333000													27	27					0	0	1	0	0
DGAT1	8694	broad.mit.edu	37	8	145541642	145541642	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr8:145541642C>T	ENST00000332324.4	-	9	1063	c.790G>A	c.(790-792)Gag>Aag	p.E264K	DGAT1_ENST00000531896.1_Missense_Mutation_p.R294Q	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	264					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AAGTTGAGCTCGTAGCACAAG	0.627000													12	68					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155893432	155893432	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:155893432T>G	ENST00000368320.3	-	8	965	c.940A>C	c.(940-942)Aat>Cat	p.N314H	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368319.3_Missense_Mutation_p.N314H|KIAA0907_ENST00000368321.3_Missense_Mutation_p.N314H			Q7Z7F0	K0907_HUMAN	KIAA0907	314										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TGCAAAAGATTCTCACAAAGC	0.388000													26	91					0	0	1	0	0
FRG1BP	284802	broad.mit.edu	37	20	29624046	29624046	+	Missense_Mutation	SNP	C	C	T	rs75650664	by1000genomes	TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr20:29624046C>T	ENST00000278882.3	+	4	450	c.70C>T	c.(70-72)Cct>Tct	p.P24S	FRG1B_ENST00000439954.2_Missense_Mutation_p.P29S|FRG1B_ENST00000358464.4_Missense_Mutation_p.P24S																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATGAGGGCCCTAGTCCTCC	0.279000													3	29					0	0	1	0	0
SCFD2	152579	broad.mit.edu	37	4	54231861	54231861	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:54231861C>T	ENST00000401642.3	-	1	381	c.248G>A	c.(247-249)gGc>gAc	p.G83D	SCFD2_ENST00000388940.4_Missense_Mutation_p.G83D	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	83					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CACGGTCCGGCCTTTCAGCAG	0.592000													23	41					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51095537	51095537	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr7:51095537G>C	ENST00000395542.2	-	12	3686	c.3502C>G	c.(3502-3504)Ccc>Gcc	p.P1168A	COBL_ENST00000265136.7_Missense_Mutation_p.P1086A			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1086	WH2 2.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AAAATGCTGGGTGGCCAAATA	0.488000													18	147					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162307559	162307559	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:162307559T>A	ENST00000306100.5	-	16	2320	c.1884A>T	c.(1882-1884)aaA>aaT	p.K628N	FSTL5_ENST00000427802.2_Missense_Mutation_p.K618N|FSTL5_ENST00000379164.4_Missense_Mutation_p.K627N|FSTL5_ENST00000536695.1_Missense_Mutation_p.K627N|RP11-234O6.2_ENST00000508189.1_RNA	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	628						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAAGATCAATTTTTTGTAGTG	0.358000													42	47					0	0	1	0	0
ZNHIT3	9326	broad.mit.edu	37	17	34848722	34848722	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:34848722G>A	ENST00000225410.4	+	3	249	c.184G>A	c.(184-186)Gta>Ata	p.V62I	ZNHIT3_ENST00000490126.2_5'UTR|ZNHIT3_ENST00000592616.1_Missense_Mutation_p.V62I|ZNHIT3_ENST00000588253.1_5'UTR|ZNHIT3_ENST00000590858.1_Intron	NM_004773.2	NP_004764.1	Q15649	ZNHI3_HUMAN	zinc finger, HIT-type containing 3	62					regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding			lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		TACCAAAACCGTAAAGCCTGT	0.443000													4	107					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152652079	152652079	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr6:152652079C>G	ENST00000367255.5	-	78	14342	c.13741G>C	c.(13741-13743)Gca>Cca	p.A4581P	SYNE1_ENST00000423061.1_Missense_Mutation_p.A4510P|SYNE1_ENST00000341594.5_Missense_Mutation_p.A4328P|SYNE1_ENST00000265368.4_Missense_Mutation_p.A4581P|SYNE1_ENST00000448038.1_Missense_Mutation_p.A4510P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4581					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACAATATCTGCTTGTTTTAGC	0.363000										HNSCC(10;0.0054)			42	174					0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91973672	91973672	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr9:91973672G>C	ENST00000375807.3	+	17	2569	c.2498G>C	c.(2497-2499)gGa>gCa	p.G833A	SECISBP2_ENST00000339901.4_Missense_Mutation_p.G760A|SECISBP2_ENST00000534113.2_Missense_Mutation_p.G765A	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	833					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GCATACAGTGGATGTACCCTG	0.393000													44	40					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9459635	9459635	+	Nonstop_Mutation	SNP	G	G	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr20:9459635G>C	ENST00000378493.1	+	35	3542	c.3527G>C	c.(3526-3528)tGa>tCa	p.*1176S	PLCB4_ENST00000414679.2_Nonstop_Mutation_p.*1188S|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.M1188I|PLCB4_ENST00000378473.3_Nonstop_Mutation_p.*1188S|PLCB4_ENST00000334005.3_Missense_Mutation_p.M1188I|PLCB4_ENST00000278655.4_Nonstop_Mutation_p.*1176S			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	0					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ACAGTAGTATGAAACTCCAAA	0.433000													4	29					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12429604	12429604	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:12429604C>T	ENST00000358136.3	+	54	10785	c.10655C>T	c.(10654-10656)gCc>gTc	p.A3552V	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.A3527V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3551					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTGGATTATGCCTGGGACGAA	0.507000													5	256					0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68014253	68014253	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:68014253C>T	ENST00000268793.4	-	1	479	c.106G>A	c.(106-108)Gcg>Acg	p.A36T	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	11					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CGGCTGAGCGCGCGGGAACCC	0.751000													4	2					0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220369734	220369734	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:220369734A>G	ENST00000358951.2	-	10	934	c.818T>C	c.(817-819)aTg>aCg	p.M273T		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	273					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GGACAGAGTCATAATACCTAA	0.328000													34	125					0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8398028	8398028	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:8398028G>A	ENST00000471889.1	+	7	2135	c.1750G>A	c.(1750-1752)Gcc>Acc	p.A584T	SLC45A1_ENST00000377479.2_Missense_Mutation_p.A618T|SLC45A1_ENST00000289877.8_Missense_Mutation_p.A584T			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	584					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTATCTACGCCTTCAGTGC	0.602000													16	71					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870694	51870694	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr20:51870694C>T	ENST00000371497.5	+	2	1584	c.697C>T	c.(697-699)Cac>Tac	p.H233Y	TSHZ2_ENST00000603338.2_Missense_Mutation_p.H230Y|TSHZ2_ENST00000329613.6_Missense_Mutation_p.H230Y	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	233					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCTGACTGTGCACATGAATGA	0.537000													15	28					0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56271375	56271375	+	Silent	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:56271375C>T	ENST00000225371.5	+	5	626	c.516C>T	c.(514-516)ccC>ccT	p.P172P		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	172					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GCTGGCTGCCCGCCGAGTATG	0.652000													29	18					0	0	1	0	0
SESN1	27244	broad.mit.edu	37	6	109323525	109323525	+	Silent	SNP	G	G	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr6:109323525G>T	ENST00000436639.2	-	2	1046	c.301C>A	c.(301-303)Cga>Aga	p.R101R	SESN1_ENST00000302071.2_5'UTR|SESN1_ENST00000356644.7_Silent_p.R42R	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	42					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		CCTAGTGGTCGAGGAATTCTA	0.413000													31	28					3.03874e-20	3.38493e-20	1	1	0
ZNF675	171392	broad.mit.edu	37	19	23837404	23837404	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:23837404A>G	ENST00000359788.4	-	4	499	c.331T>C	c.(331-333)Ttt>Ctt	p.F111L	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	111					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTTAACTGAAAATTATCATTT	0.348000													14	240					0	0	1	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839984	27839984	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr6:27839984T>A	ENST00000328488.2	-	1	115	c.110A>T	c.(109-111)aAg>aTg	p.K37M		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	37					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GTGGGGCTTCTTGACGCCACC	0.672000													36	89					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112487041	112487041	+	Translation_Start_Site	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:112487041G>A	ENST00000515367.2	-	0	319				MCC_ENST00000302475.4_Missense_Mutation_p.R46W|MCC_ENST00000408903.3_Missense_Mutation_p.R236W|MCC_ENST00000514701.3_5'UTR			P23508	CRCM_HUMAN	mutated in colorectal cancers						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)		AGAAGGTCCCGTTCCCTCTCT	0.413000													20	57					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281985	152281985	+	Missense_Mutation	SNP	G	G	A	rs138288591		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:152281985G>A	ENST00000368799.1	-	3	5412	c.5377C>T	c.(5377-5379)Cgc>Tgc	p.R1793C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1793	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R1793S(1)		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)			TGCTCGTGGCGGGATCTTTGT	0.607000									Ichthyosis				321	253					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115970473	115970473	+	Silent	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr10:115970473A>G	ENST00000251864.2	+	12	1671	c.1518A>G	c.(1516-1518)ccA>ccG	p.P506P	TDRD1_ENST00000369281.2_Silent_p.P506P|TDRD1_ENST00000369280.1_Silent_p.P506P|TDRD1_ENST00000422662.1_Silent_p.P167P|TDRD1_ENST00000369282.1_Silent_p.P506P	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	506					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTCAAACACCAGAAGACTTCT	0.378000													51	62					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78317738	78317738	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:78317738C>T	ENST00000582970.1	+	28	6408	c.6265C>T	c.(6265-6267)Cgg>Tgg	p.R2089W	RNF213_ENST00000336301.6_Missense_Mutation_p.R162W|RNF213_ENST00000508628.2_Missense_Mutation_p.R2138W	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AATGTGGCTTCGGAACCCCTG	0.468000													15	148					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578266	7578266	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:7578266T>A	ENST00000420246.2	-	6	715	c.583A>T	c.(583-585)Atc>Ttc	p.I195F	TP53_ENST00000359597.4_Missense_Mutation_p.I195F|TP53_ENST00000269305.4_Missense_Mutation_p.I195F|TP53_ENST00000413465.2_Missense_Mutation_p.I195F|TP53_ENST00000455263.2_Missense_Mutation_p.I195F|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.I195F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.I195F(20)|p.0?(8)|p.?(6)|p.I195fs*14(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102F(1)|p.I195fs*52(1)|p.L194fs*52(1)|p.I63fs*14(1)|p.I195fs*50(1)|p.I102fs*14(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.I195L(1)|p.P98_E105>Q(1)|p.I63F(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.I195fs*12(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)		TCCACTCGGATAAGATGCTGA	0.557000		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)			35	65					0	0	1	0	0
ZZZ3	26009	broad.mit.edu	37	1	78097599	78097599	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:78097599C>A	ENST00000370801.3	-	5	1916	c.1441G>T	c.(1441-1443)Gaa>Taa	p.E481*	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TCATCATCTTCCTCTTCTGTA	0.403000													29	144					9.80776e-20	1.07885e-19	1	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90162379	90162379	+	RNA	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:90162379A>G	ENST00000564451.1	+	0	1732				TUBB8P7_ENST00000567960.1_RNA																							TGGGAATAATACGGCCATCCA	0.522000													4	187					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94956065	94956065	+	Silent	SNP	G	G	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr14:94956065G>T	ENST00000341228.2	-	5	1740	c.945C>A	c.(943-945)ggC>ggA	p.G315G	SERPINA12_ENST00000556881.1_Silent_p.G315G	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	315					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GGTCGAAGGTGCCCGTCATGT	0.532000													28	67					3.57733e-08	3.77012e-08	1	1	0
ITPR2	3709	broad.mit.edu	37	12	26551955	26551955	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr12:26551955C>T	ENST00000381340.3	-	54	7966	c.7550G>A	c.(7549-7551)cGa>cAa	p.R2517Q	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2517					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ATAAACCACTCGGGCAGCAAA	0.333000													16	53					0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6538401	6538401	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:6538401G>A	ENST00000361413.3	-	2	381	c.23C>T	c.(22-24)tCa>tTa	p.S8L	KIAA0753_ENST00000572370.1_Intron|KIAA0753_ENST00000542606.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	8						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		AACACAGGTTGAAGCTGGCTG	0.463000													53	102					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32138718	32138718	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr12:32138718A>G	ENST00000312561.4	+	4	5243	c.4829A>G	c.(4828-4830)gAt>gGt	p.D1610G	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		CTTCATAAAGATAAGAGACAG	0.333000													55	55					0	0	1	0	0
PI3	5266	broad.mit.edu	37	20	43803615	43803615	+	Silent	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr20:43803615C>T	ENST00000243924.3	+	1	99	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	18					copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CGCTGGGACGCTGGTTCTAGA	0.572000													26	60					0	0	1	0	0
RP1-241P17.4	0	broad.mit.edu	37	X	114953364	114953364	+	Silent	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chrX:114953364G>A	ENST00000449327.1	-	1	305	c.186C>T	c.(184-186)ttC>ttT	p.F62F																								GTTGCCCGTCGAATCGGAATC	0.443000													8	110					0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35449245	35449245	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:35449245G>A	ENST00000404801.1	-	4	1900	c.1514C>T	c.(1513-1515)cCt>cTt	p.P505L	ZNF792_ENST00000605484.1_Missense_Mutation_p.P438L	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCACTGGTAAGGCCGTTCACC	0.512000													40	29					0	0	1	0	0
LOC100294341	100294341	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C	rs142536398	by1000genomes	TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:43587730A>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GTATTGATTCATTTTATTCAT	0.343000													3	75					0	0	1	0	0
SCAMP3	10067	broad.mit.edu	37	1	155226544	155226544	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:155226544G>A	ENST00000355379.3	-	7	1018	c.740C>T	c.(739-741)aCa>aTa	p.T247I	SCAMP3_ENST00000302631.3_Missense_Mutation_p.T273I|SCAMP3_ENST00000472397.1_5'UTR	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	273					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	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)			GGATACTGCTGTGTTGCCCTT	0.557000													40	33					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248621	20248621	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr14:20248621G>T	ENST00000315957.4	+	1	221	c.140G>T	c.(139-141)tGc>tTc	p.C47F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTTATCATTTGCACCATCAGG	0.433000													59	195					4.09106e-26	4.61556e-26	1	1	0
VEPH1	79674	broad.mit.edu	37	3	156979061	156979061	+	Silent	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr3:156979061G>A	ENST00000362010.2	-	14	2671	c.2364C>T	c.(2362-2364)ttC>ttT	p.F788F	VEPH1_ENST00000543418.1_Silent_p.F743F|RP11-550I24.2_ENST00000488040.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392832.2_Silent_p.F788F|VEPH1_ENST00000392833.2_Silent_p.F743F	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	788	PH.					plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGAAGATTTCGAAAGCCCGGG	0.502000													33	66					0	0	1	0	0
ZNF775	285971	broad.mit.edu	37	7	150093929	150093929	+	Silent	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr7:150093929G>A	ENST00000329630.5	+	3	467	c.360G>A	c.(358-360)tcG>tcA	p.S120S		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGGTGGTCGTCCCTGAAGA	0.672000													5	32					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12120177	12120177	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr6:12120177G>C	ENST00000379388.2	+	4	481	c.149G>C	c.(148-150)cGc>cCc	p.R50P		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	50					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GGTGTGAAACGCAAAAAGATC	0.363000													72	379					0	0	1	0	0
MARCH3	115123	broad.mit.edu	37	5	126206380	126206380	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:126206380G>A	ENST00000308660.5	-	5	1221	c.707C>T	c.(706-708)cCg>cTg	p.P236L		NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	236					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		CAGCAAGGACGGCTGGTTAGA	0.463000													33	44					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154862765	154862765	+	Silent	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr7:154862765G>A	ENST00000287907.2	+	1	732	c.156G>A	c.(154-156)gcG>gcA	p.A52A	AC093726.4_ENST00000493904.1_5'UTR|AC093726.4_ENST00000543018.1_Silent_p.A83A|AC093726.4_ENST00000395731.2_Silent_p.A83A	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	52						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)		TTCTGGTGGCGGCGACGTTCG	0.647000													33	53					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107638831	107638831	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr7:107638831C>T	ENST00000393561.1	-	2	576	c.392G>A	c.(391-393)cGc>cAc	p.R131H	LAMB1_ENST00000393560.1_Missense_Mutation_p.R107H|LAMB1_ENST00000222399.6_Missense_Mutation_p.R107H			P07942	LAMB1_HUMAN	laminin, beta 1	107	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.R107H(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATCTTAAGGCGGTTTGGAGC	0.433000													55	138					0	0	1	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111912799	111912799	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr6:111912799G>C	ENST00000368761.5	-	2	969	c.491C>G	c.(490-492)cCt>cGt	p.P164R	TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.P173R|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.P164R|TRAF3IP2_ENST00000392556.4_5'UTR	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	173					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		TGAGGCATTAGGTAAACTTTG	0.517000													5	136					0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75485569	75485569	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr14:75485569G>C	ENST00000355774.2	-	12	4420	c.4205C>G	c.(4204-4206)cCg>cGg	p.P1402R	MLH3_ENST00000556257.1_Missense_Mutation_p.P1224R|MLH3_ENST00000380968.2_Missense_Mutation_p.P340R|MLH3_ENST00000238662.7_Missense_Mutation_p.P1378R|MLH3_ENST00000556740.1_Missense_Mutation_p.P1402R	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1402					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	p.P1378R(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GTCAGCTAACGGCAGCATAGA	0.468000								Mismatch excision repair (MMR)					17	120					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47754119	47754119	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr11:47754119G>A	ENST00000263773.5	-	11	1802	c.1790C>T	c.(1789-1791)aCt>aTt	p.T597I	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	597	WW 2.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GCCTTTAGGAGTGGCGTTTAT	0.468000													81	54					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116257182	116257182	+	Splice_Site	SNP	T	T	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:116257182T>A	ENST00000410059.1	+	4	846		c.e4+2		DPP10_ENST00000409163.1_Splice_Site|DPP10_ENST00000310323.8_Splice_Site|DPP10_ENST00000393147.2_Splice_Site|DPP10_ENST00000488208.1_Splice_Site	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)						proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ACAACTTTTGTAAGTAATGAA	0.313000													11	123					0	0	1	0	0
SPIDR	23514	broad.mit.edu	37	8	48309052	48309052	+	Silent	SNP	G	G	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr8:48309052G>C	ENST00000297423.4	+	6	1026	c.642G>C	c.(640-642)tcG>tcC	p.S214S	SPIDR_ENST00000541342.1_Silent_p.S144S|SPIDR_ENST00000518074.1_Silent_p.S154S|SPIDR_ENST00000521214.1_3'UTR	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		AGTTTGCATCGGATGCAAGAC	0.398000													75	185					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101383452	101383452	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr3:101383452A>T	ENST00000312938.4	-	5	2310	c.1730T>A	c.(1729-1731)gTt>gAt	p.V577D		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTCTGAAAAACCATTCCACA	0.363000													12	238					0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40696000	40696000	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:40696000C>T	ENST00000225927.2	+	6	2077	c.1976C>T	c.(1975-1977)gCc>gTc	p.A659V	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	659						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CTGGACTATGCCAACAAGCAG	0.622000													3	24					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76834877	76834877	+	Silent	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr11:76834877C>T	ENST00000278559.3	+	13	2073	c.1884C>T	c.(1882-1884)gcC>gcT	p.A628A	CAPN5_ENST00000531028.1_3'UTR|CAPN5_ENST00000456580.2_Silent_p.A668A|CAPN5_ENST00000529629.1_Silent_p.A628A	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	628					proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GCACTGTGGCCGTGCACATTC	0.637000													35	47					0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95858863	95858863	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr13:95858863G>A	ENST00000376887.4	-	8	1198	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W	ABCC4_ENST00000412704.1_Missense_Mutation_p.R362W|ABCC4_ENST00000431522.1_Missense_Mutation_p.R362W|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Missense_Mutation_p.R287W	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	362	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	ACCGTCAGCCGCACAGCCCCA	0.547000													4	125					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210574887	210574887	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:210574887G>A	ENST00000360351.4	+	12	5488	c.4982G>A	c.(4981-4983)cGg>cAg	p.R1661Q	MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000447185.1_Missense_Mutation_p.R1657Q|MAP2_ENST00000199940.6_Missense_Mutation_p.R362Q|MAP2_ENST00000392194.1_Missense_Mutation_p.R305Q|MAP2_ENST00000361559.4_Missense_Mutation_p.R305Q	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1661					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AAGCAGCTTCGGCTTATTAAC	0.493000													12	30					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													5	211					0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73636162	73636162	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr13:73636162A>G	ENST00000377687.4	+	2	961	c.425A>G	c.(424-426)gAc>gGc	p.D142G	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.D51G	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	142					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		TTCCTCCCTGACATCACTCAC	0.473000													49	340					0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14580993	14580993	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:14580993G>A	ENST00000242783.6	+	19	2477	c.2312G>A	c.(2311-2313)cGg>cAg	p.R771Q	PKN1_ENST00000342216.4_Missense_Mutation_p.R777Q	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	771	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TATGGGGACCGGACCAGCACA	0.642000													4	56					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11513834	11513834	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:11513834C>G	ENST00000262442.3	+	3	804	c.736C>G	c.(736-738)Ccc>Gcc	p.P246A	DNAH9_ENST00000579828.1_Missense_Mutation_p.P246A|DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.P246A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	246	Stem (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)		AGGGGAGAATCCCACCCCTAA	0.498000													27	58					0	0	1	0	0
TRIM23	373	broad.mit.edu	37	5	64913959	64913959	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:64913959C>T	ENST00000231524.9	-	2	576	c.205G>A	c.(205-207)Gca>Aca	p.A69T	TRIM23_ENST00000381018.3_Missense_Mutation_p.A69T|TRIM23_ENST00000274327.7_Missense_Mutation_p.A69T	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	69					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CAACGGATTGCTCTTCCATGA	0.408000													15	81					0	0	1	0	0
SGPL1	8879	broad.mit.edu	37	10	72629616	72629616	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr10:72629616C>T	ENST00000373202.3	+	9	972	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	258					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity	p.R258W(2)		large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	GAAGATTGTGCGGGTCCCATT	0.537000													7	205					0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52941775	52941775	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:52941775C>A	ENST00000332323.6	+	4	1162	c.1101C>A	c.(1099-1101)taC>taA	p.Y367*	ZNF534_ENST00000433050.1_Nonsense_Mutation_p.Y354*|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						AGAGACCATACAAATGTAATG	0.423000													8	4					0.000157383	0.000161043	1	1	0
TRIM23	373	broad.mit.edu	37	5	64913958	64913958	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:64913958G>A	ENST00000231524.9	-	2	577	c.206C>T	c.(205-207)gCa>gTa	p.A69V	TRIM23_ENST00000381018.3_Missense_Mutation_p.A69V|TRIM23_ENST00000274327.7_Missense_Mutation_p.A69V	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	69					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		GCAACGGATTGCTCTTCCATG	0.413000													15	78					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328033	88328033	+	Silent	SNP	T	T	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr13:88328033T>C	ENST00000325089.6	+	2	609	c.390T>C	c.(388-390)ggT>ggC	p.G130G	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	130						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGCTACGGGGTTTGAGGAGAT	0.448000													42	166					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151242354	151242354	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:151242354T>C	ENST00000535741.1	-	50	8092	c.7619A>G	c.(7618-7620)cAc>cGc	p.H2540R	LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.H2540R|LRBA_ENST00000507224.1_Missense_Mutation_p.H2540R|LRBA_ENST00000357115.3_Missense_Mutation_p.H2551R			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2551						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)					AGGAAGGTTGTGCCATTTGTT	0.443000													22	99					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293478	145293478	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:145293478C>T	ENST00000342960.5	+	1	108	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	NBPF10_ENST00000369339.2_Missense_Mutation_p.R25C|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	25										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CGAGACATTGCGCCCCCAGCT	0.502000													9	1625					0	0	1	0	0
TOM1L1	10040	broad.mit.edu	37	17	52993200	52993200	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:52993200C>T	ENST00000575882.1	+	7	1050	c.697C>T	c.(697-699)Cat>Tat	p.H233Y	TOM1L1_ENST00000572158.1_Missense_Mutation_p.H226Y|TOM1L1_ENST00000570371.1_Missense_Mutation_p.H233Y|TOM1L1_ENST00000572405.1_Missense_Mutation_p.H198Y|TOM1L1_ENST00000445275.2_Missense_Mutation_p.H233Y|TOM1L1_ENST00000536554.1_Missense_Mutation_p.H156Y|TOM1L1_ENST00000348161.4_Missense_Mutation_p.H156Y|TOM1L1_ENST00000540336.1_Missense_Mutation_p.H121Y|TOM1L1_ENST00000575333.1_Missense_Mutation_p.H233Y	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	233	GAT.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						GTCTGAAAACCATGAAGACAT	0.403000													17	112					0	0	1	0	0
DGAT2	84649	broad.mit.edu	37	11	75509403	75509403	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr11:75509403T>C	ENST00000228027.7	+	7	1201	c.941T>C	c.(940-942)tTc>tCc	p.F314S	DGAT2_ENST00000376262.3_Missense_Mutation_p.F271S	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	314					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					CCATGCATCTTCCATGGTCGA	0.572000													50	87					0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124329482	124329482	+	Silent	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr9:124329482C>T	ENST00000259371.2	+	1	84	c.15C>T	c.(13-15)tcC>tcT	p.S5S		NM_032552.2	NP_115941.2	Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	0					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						AGCCCGACTCCCTTCTGGACC	0.567000													22	122					0	0	1	0	0
SAR1A	56681	broad.mit.edu	37	10	71913669	71913669	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr10:71913669T>G	ENST00000373238.1	-	6	762	c.405A>C	c.(403-405)aaA>aaC	p.K135N	SAR1A_ENST00000431664.2_Missense_Mutation_p.K135N|SAR1A_ENST00000373241.4_Missense_Mutation_p.K135N|SAR1A_ENST00000458634.2_Missense_Mutation_p.K92N|SAR1A_ENST00000373242.1_Missense_Mutation_p.K135N			Q9NR31	SAR1A_HUMAN	SAR1 homolog A (S. cerevisiae)	135					ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TTCTGTCAATTTTGTTACCCA	0.323000													42	316					0	0	1	0	0
COLEC11	78989	broad.mit.edu	37	2	3691473	3691473	+	Missense_Mutation	SNP	C	C	T	rs139848694	byFrequency	TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:3691473C>T	ENST00000403096.3	+	6	994	c.503C>T	c.(502-504)gCg>gTg	p.A168V	COLEC11_ENST00000402922.1_Missense_Mutation_p.A144V|COLEC11_ENST00000349077.4_Missense_Mutation_p.A194V|COLEC11_ENST00000382062.2_Missense_Mutation_p.A170V|COLEC11_ENST00000402794.1_Missense_Mutation_p.A144V|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000404205.1_Missense_Mutation_p.A120V|COLEC11_ENST00000418971.2_Missense_Mutation_p.A208V|COLEC11_ENST00000236693.7_Missense_Mutation_p.A191V	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	194	C-type lectin.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GCATACCTGGCGCAAGCCGGC	0.662000													8	58					0	0	1	0	0
AP1G1	164	broad.mit.edu	37	16	71784159	71784159	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:71784159T>C	ENST00000299980.4	-	14	1802	c.1361A>G	c.(1360-1362)tAt>tGt	p.Y454C	AP1G1_ENST00000569748.1_Missense_Mutation_p.Y454C|AP1G1_ENST00000393512.3_Missense_Mutation_p.Y457C|AP1G1_ENST00000433195.2_Missense_Mutation_p.Y477C|AP1G1_ENST00000423132.2_Missense_Mutation_p.Y457C	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	454					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				CTGGACAGTATAGGCATGCAT	0.378000													11	248					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16982080	16982080	+	Silent	SNP	G	G	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr10:16982080G>T	ENST00000377833.4	-	37	5564	c.5499C>A	c.(5497-5499)atC>atA	p.I1833I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1833	CUB 12.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AACCATCTGAGATAAATCTGA	0.448000													22	277					3.83957e-06	3.97508e-06	1	1	0
CADPS	8618	broad.mit.edu	37	3	62570911	62570911	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr3:62570911T>G	ENST00000383710.4	-	8	1875	c.1526A>C	c.(1525-1527)aAa>aCa	p.K509T	CADPS_ENST00000283269.9_Missense_Mutation_p.K509T|CADPS_ENST00000357948.3_Missense_Mutation_p.K509T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	509					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AAGTTTGATTTTGAGATCTTG	0.463000													15	116					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22805927	22805927	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr18:22805927T>C	ENST00000361524.3	-	4	2103	c.1955A>G	c.(1954-1956)cAc>cGc	p.H652R	ZNF521_ENST00000538137.2_Missense_Mutation_p.H652R|ZNF521_ENST00000584787.1_Missense_Mutation_p.H432R	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	652					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGTTTTTAGGTGAGTCTGAAA	0.458000			T	PAX5	ALL								28	191					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124215244	124215244	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr3:124215244C>A	ENST00000360013.3	+	33	5040	c.4913C>A	c.(4912-4914)aCa>aAa	p.T1638K	KALRN_ENST00000240874.3_Missense_Mutation_p.T1638K|KALRN_ENST00000460856.1_Missense_Mutation_p.T1629K	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1638					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTCAGAACACAGTGGACAGT	0.532000													4	83					0.150653	0.150653	1	1	0
ASH1L	55870	broad.mit.edu	37	1	155316205	155316205	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:155316205C>G	ENST00000368346.3	-	21	8513	c.7874G>C	c.(7873-7875)tGt>tCt	p.C2625S	ASH1L_ENST00000392403.3_Missense_Mutation_p.C2620S|MIR555_ENST00000384987.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2625					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACACTGCTCACAAAGGTAGTG	0.468000													15	184					0	0	1	0	0
ALG5	29880	broad.mit.edu	37	13	37569653	37569653	+	Silent	SNP	G	G	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr13:37569653G>T	ENST00000239891.3	-	2	213	c.147C>A	c.(145-147)gcC>gcA	p.A49A	ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000443765.1_Silent_p.A49A|ALG5_ENST00000413537.2_Silent_p.A49A	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	49					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TCTGGCCTTTGGCATTTAAGA	0.403000													24	71					1.66031e-10	1.76032e-10	1	1	0
ZNF217	7764	broad.mit.edu	37	20	52198785	52198785	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr20:52198785C>T	ENST00000371471.2	-	2	1006	c.581G>A	c.(580-582)aGt>aAt	p.S194N	ZNF217_ENST00000302342.3_Missense_Mutation_p.S194N			O75362	ZN217_HUMAN	zinc finger protein 217	194					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGCTGGACTACTCTCCAAGCC	0.498000													8	219					0	0	1	0	0
NPIPB15	440348	broad.mit.edu	37	16	74425487	74425487	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:74425487A>T	ENST00000429990.1	+	7	937	c.841A>T	c.(841-843)Aat>Tat	p.N281Y						nuclear pore complex interacting protein family, member B15																		AGTGGATGATAATATCAAGGA	0.502000													10	212					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169826657	169826657	+	Silent	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:169826657G>A	ENST00000263817.6	-	15	1831	c.1707C>T	c.(1705-1707)atC>atT	p.I569I		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	569	ABC transporter 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GGGCTCTGGCGATAGCTACCC	0.512000													48	62					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59323022	59323022	+	Translation_Start_Site	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr15:59323022A>G	ENST00000348370.4	+	2	434	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	RNF111_ENST00000561186.1_Start_Codon_SNP_p.M1V|RNF111_ENST00000434298.1_Start_Codon_SNP_p.M1V|RNF111_ENST00000557998.1_Start_Codon_SNP_p.M1V|RNF111_ENST00000559209.1_Start_Codon_SNP_p.M1V	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	1					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AAAGTTTCCCATGTCTCAATG	0.338000													21	65					0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758360	5758360	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr11:5758360G>C	ENST00000317121.3	+	1	680	c.614G>C	c.(613-615)aGc>aCc	p.S205T	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		AGGCCAAACAGCATTTGCCAG	0.448000													25	45					0	0	1	0	0
TCP1	6950	broad.mit.edu	37	6	160200112	160200112	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr6:160200112C>T	ENST00000321394.7	-	12	1916	c.1636G>A	c.(1636-1638)Gaa>Aaa	p.E546K	ACAT2_ENST00000541436.1_3'UTR|TCP1_ENST00000392168.2_Missense_Mutation_p.E391K|TCP1_ENST00000420894.2_3'UTR|TCP1_ENST00000544255.1_Missense_Mutation_p.E322K	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	546					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		ACAGCATCTTCATAACTTCCA	0.323000													8	151					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40610451	40610451	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr21:40610451C>T	ENST00000342449.3	-	22	2608	c.2530G>A	c.(2530-2532)Gaa>Aaa	p.E844K	BRWD1_ENST00000380800.3_Missense_Mutation_p.E844K|BRWD1_ENST00000333229.2_Missense_Mutation_p.E844K	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	844					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTTCTCCATTCATCCTCTTCT	0.383000													6	119					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85518291	85518291	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr12:85518291A>C	ENST00000393217.2	+	17	4062	c.4001A>C	c.(4000-4002)gAa>gCa	p.E1334A		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1334										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAGCCTAGTGAAAAAATGTAA	0.328000													16	146					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34079505	34079505	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:34079505C>A	ENST00000254466.6	-	1	392	c.365G>T	c.(364-366)cGa>cTa	p.R122L	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R122L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	122	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CATCTCCTTTCGACACCACTG	0.572000													23	153					1.66031e-10	1.76032e-10	1	1	0
AKAP12	9590	broad.mit.edu	37	6	151671662	151671662	+	Silent	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr6:151671662G>A	ENST00000402676.2	+	4	2376	c.2136G>A	c.(2134-2136)caG>caA	p.Q712Q	AKAP12_ENST00000253332.1_Silent_p.Q712Q|AKAP12_ENST00000359755.5_Silent_p.Q607Q|AKAP12_ENST00000354675.6_Silent_p.Q614Q	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	712					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAGACCACCAGAAAGCTGATG	0.537000													76	90					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50090900	50090900	+	Silent	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:50090900G>A	ENST00000281631.5	+	12	1235	c.1077G>A	c.(1075-1077)tcG>tcA	p.S359S	PARP8_ENST00000505554.1_Silent_p.S338S|PARP8_ENST00000514342.2_Silent_p.S112S|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Silent_p.S359S|PARP8_ENST00000514067.2_Silent_p.S359S|PARP8_ENST00000503750.2_Silent_p.S359S	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	359						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAATTAAATCGCACAAACTTT	0.488000													23	81					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187694508	187694508	+	Silent	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:187694508A>G	ENST00000295131.2	-	8	1080	c.1041T>C	c.(1039-1041)tgT>tgC	p.C347C		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	347					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATGCCTTCAAACAAAGTAGAC	0.398000													16	139					0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186461543	186461543	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr3:186461543C>A	ENST00000287611.2	+	11	1520	c.1253C>A	c.(1252-1254)gCa>gAa	p.A418E	RP11-573D15.8_ENST00000354642.2_RNA|RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000596632.1_RNA|RP11-573D15.8_ENST00000596329.1_RNA|KNG1_ENST00000447445.1_Missense_Mutation_p.A382E	NM_000893.3	NP_000884.1	P01042	KNG1_HUMAN	kininogen 1	409					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	AAGGCAGGGGCAGAGCCAGCA	0.498000													6	56					0.0293803	0.0295482	1	1	0
VTI1A	143187	broad.mit.edu	37	10	114298011	114298011	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr10:114298011C>T	ENST00000393077.2	+	5	465	c.349C>T	c.(349-351)Cat>Tat	p.H117Y	VTI1A_ENST00000432306.1_Missense_Mutation_p.H117Y	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	117					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		TCAGAGGGCACATCTGCTCGA	0.428000			T	TCF7L2	colorectal								36	59					0	0	1	0	0
NTN4	59277	broad.mit.edu	37	12	96077300	96077300	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr12:96077300G>T	ENST00000343702.4	-	6	1816	c.1368C>A	c.(1366-1368)gaC>gaA	p.D456E	NTN4_ENST00000553059.1_Missense_Mutation_p.D456E|NTN4_ENST00000538383.1_Missense_Mutation_p.D419E|NTN4_ENST00000344911.4_Missense_Mutation_p.D419E	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	456					axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CGGTGATAGGGTCACAGCTCC	0.537000													5	38					0.000602214	0.000612657	1	1	0
KLF3	51274	broad.mit.edu	37	4	38690369	38690369	+	Nonsense_Mutation	SNP	C	C	A	rs150818202		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:38690369C>A	ENST00000261438.5	+	3	526	c.221C>A	c.(220-222)tCg>tAg	p.S74*	KLF3_ENST00000514033.1_Nonsense_Mutation_p.S74*	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	74	Pro-rich.|Repressor domain.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TCACCCCCTTCGGCTGGGAAT	0.562000													20	42					3.99206e-14	4.31044e-14	1	1	0
KCNQ4	9132	broad.mit.edu	37	1	41303354	41303354	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:41303354G>A	ENST00000347132.5	+	13	1845	c.1763G>A	c.(1762-1764)gGt>gAt	p.G588D	KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.G534D	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	588	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CAAATTGTGGGTCGGGGGCCC	0.622000													13	15					0	0	1	0	0
BMPR1B	658	broad.mit.edu	37	4	96025719	96025719	+	Splice_Site	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:96025719G>A	ENST00000515059.1	+	4	426		c.e4+1		BMPR1B_ENST00000394931.1_Splice_Site|BMPR1B_ENST00000440890.2_Splice_Site|BMPR1B_ENST00000264568.4_Splice_Site|BMPR1B_ENST00000502683.1_Splice_Site	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB						BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		ATATTTGCAGGTTGGTGATAT	0.413000													21	66					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216108138	216108138	+	Splice_Site	SNP	C	C	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:216108138C>A	ENST00000366943.2	-	38	7507		c.e38-1		USH2A_ENST00000307340.3_Splice_Site			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)						maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTATTACCTACTGattaaaaa	0.318000										HNSCC(13;0.011)			50	122					7.05377e-20	7.80794e-20	1	1	0
OR2L8	391190	broad.mit.edu	37	1	248112433	248112433	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:248112433T>C	ENST00000357191.3	+	1	274	c.274T>C	c.(274-276)Tcc>Ccc	p.S92P	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CAAGTCTATCTCCTTCACTGG	0.428000													5	443					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74327753	74327753	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr15:74327753G>A	ENST00000268059.6	+	8	2047	c.1951G>A	c.(1951-1953)Gtc>Atc	p.V651I	PML_ENST00000435786.2_3'UTR|PML_ENST00000563500.1_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000569477.1_3'UTR|PML_ENST00000564428.1_Intron|PML_ENST00000354026.6_Missense_Mutation_p.V603I|PML_ENST00000565898.1_Intron|PML_ENST00000436891.3_3'UTR	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	48					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCGCCCTGCCGTCCACCGTGG	0.667000			T	"""RARA, PAX5"""	"""APL, ALL"""								13	90					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27751362	27751362	+	Splice_Site	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:27751362G>A	ENST00000261588.4	+	15	1763	c.1743_splice	c.e15-1	p.D582_splice		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	582										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ATGGTTTCAGGATCTTGACAT	0.393000													66	73					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38622444	38622444	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr3:38622444G>A	ENST00000413689.1	-	17	3399	c.3206C>T	c.(3205-3207)aCg>aTg	p.T1069M	SCN5A_ENST00000451551.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000443581.1_Missense_Mutation_p.T1069M|SCN5A_ENST00000425664.1_Missense_Mutation_p.T1069M|SCN5A_ENST00000423572.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000414099.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000333535.4_Missense_Mutation_p.T1069M|SCN5A_ENST00000455624.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000450102.2_Missense_Mutation_p.T1069M|SCN5A_ENST00000449557.2_Missense_Mutation_p.T1069M	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1069					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTCCTCCTCCGTGCCCAGGCT	0.627000													29	21					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211523412	211523412	+	Splice_Site	SNP	G	G	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr2:211523412G>C	ENST00000233072.5	+	31	3952	c.3756_splice	c.e31+1	p.L1252_splice	CPS1_ENST00000451903.2_Splice_Site_p.L801_splice|CPS1_ENST00000430249.2_Splice_Site_p.L1258_splice	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1252	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ATGATGTCTTGGTAAGAAATG	0.443000													8	113					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7814165	7814165	+	Splice_Site	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr17:7814165G>A	ENST00000380358.4	+	39	5933	c.5931_splice	c.e39-1	p.A1978_splice	CHD3_ENST00000358181.4_Splice_Site_p.A1885_splice|CHD3_ENST00000330494.7_Splice_Site_p.A1919_splice	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1919					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCTGTTCCAGGCCTACCCGCC	0.602000													24	373					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176675267	176675267	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:176675267C>A	ENST00000439151.2	+	11	4628	c.4583C>A	c.(4582-4584)tCt>tAt	p.S1528Y	NSD1_ENST00000347982.4_Missense_Mutation_p.S1259Y|NSD1_ENST00000354179.4_Missense_Mutation_p.S1259Y|NSD1_ENST00000361032.4_Missense_Mutation_p.S1425Y	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1528					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATGCCTGCCTCTAAAAAAATG	0.493000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			21	9					2.98393e-07	3.12602e-07	1	1	0
CDH8	1006	broad.mit.edu	37	16	61858997	61858997	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:61858997G>A	ENST00000577390.1	-	5	1708	c.754C>T	c.(754-756)Cac>Tac	p.H252Y	CDH8_ENST00000584337.1_Missense_Mutation_p.H252Y|CDH8_ENST00000577730.1_Missense_Mutation_p.H252Y|CDH8_ENST00000299345.6_Missense_Mutation_p.H252Y	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	252	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.H252Y(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCACCAGAGTGTCCACCCATA	0.453000													4	83					0	0	1	0	0
MRPL1	65008	broad.mit.edu	37	4	78815401	78815401	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:78815401C>T	ENST00000315567.8	+	6	996	c.667C>T	c.(667-669)Cga>Tga	p.R223*	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	223							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						AAAGCTTTCTCGAAGTAAGAG	0.318000													27	120					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177901895	177901895	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:177901895G>T	ENST00000308284.6	-	23	2959	c.2870C>A	c.(2869-2871)tCa>tAa	p.S957*	RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000495165.1_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	957					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AGGTGTCAGTGAGAGGCCCAG	0.587000													5	35					3.59834e-05	3.70355e-05	1	1	0
PITPNM2	57605	broad.mit.edu	37	12	123489929	123489929	+	Silent	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr12:123489929G>A	ENST00000280562.5	-	6	1015	c.810C>T	c.(808-810)ctC>ctT	p.L270L	PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000546049.1_Silent_p.L270L|PITPNM2_ENST00000542749.1_Silent_p.L270L|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000320201.4_Silent_p.L270L			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	270					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)		CGTGCTTGACGAGCTCAGTGG	0.617000													22	62					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72338564	72338564	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:72338564T>C	ENST00000340595.3	+	11	1844	c.1648T>C	c.(1648-1650)Ttc>Ctc	p.F550L	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Missense_Mutation_p.F594L|SLC4A4_ENST00000425175.1_Missense_Mutation_p.F594L|SLC4A4_ENST00000264485.5_Missense_Mutation_p.F594L|SLC4A4_ENST00000512686.1_Missense_Mutation_p.F550L	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	594						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TCTGATTAGCTTCATCTTTAT	0.443000													61	108					0	0	1	0	0
PDHA1	5160	broad.mit.edu	37	X	19373837	19373837	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chrX:19373837G>A	ENST00000379806.5	+	9	1052	c.907G>A	c.(907-909)Gca>Aca	p.A303T	PDHA1_ENST00000545074.1_Missense_Mutation_p.A272T|PDHA1_ENST00000379804.1_5'UTR|PDHA1_ENST00000540249.1_Missense_Mutation_p.A234T|PDHA1_ENST00000422285.2_Missense_Mutation_p.A265T	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	265					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	CGTCCGAGAGGCAACAAGGTT	0.488000													12	36					0	0	1	0	0
TMCO5A	145942	broad.mit.edu	37	15	38243375	38243375	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr15:38243375G>T	ENST00000319669.4	+	11	909	c.807G>T	c.(805-807)aaG>aaT	p.K269N	TMCO5A_ENST00000540944.1_Intron|TMCO5A_ENST00000559502.1_Intron	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	269						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						CCTTGTGGAAGCTCAGATGCT	0.453000													25	82					1.03073e-24	1.15547e-24	1	1	0
KIAA0556	23247	broad.mit.edu	37	16	27777777	27777777	+	Silent	SNP	C	C	T	rs138259068	byFrequency	TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:27777777C>T	ENST00000261588.4	+	20	3976	c.3957C>T	c.(3955-3957)ccC>ccT	p.P1319P		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1319										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ATAAATCTCCCGAGGACACCT	0.612000													36	35					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	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													5	54					0	0	1	0	0
ZNF280B	140883	broad.mit.edu	37	22	22842418	22842418	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr22:22842418A>G	ENST00000360412.2	-	4	2081	c.1306T>C	c.(1306-1308)Ttt>Ctt	p.F436L	ZNF280B_ENST00000406426.1_Missense_Mutation_p.F436L	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGAGACAAAAGGGACAAAGC	0.428000													4	287					0	0	1	0	0
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tfs	p.C192fs	CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.500													9	357	---	---	---	---					
HNRNPDL	9987	broad.mit.edu	37	4	83349206	83349210	+	Frame_Shift_Del	DEL	CTTCA	CTTCA	-			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr4:83349206_83349210delCTTCA	ENST00000295470.5	-	3	910_914	c.735_739delTGAAG	c.(733-741)tcaafs	p.SEE245fs	HNRNPDL_ENST00000502762.1_Frame_Shift_Del_p.SEE245fs|HNRNPDL_ENST00000349655.4_Frame_Shift_Del_p.SEE126fs|HNRNPDL_ENST00000602300.1_Frame_Shift_Del_p.SEE126fs|HNRNPDL_ENST00000514511.1_Intron	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1			heterogeneous nuclear ribonucleoprotein D-like																		TTAATTTGTTCTTCAGAAGTATCCG	0.380													21	95	---	---	---	---					
RIOK2	55781	broad.mit.edu	37	5	96512862	96512865	+	Frame_Shift_Del	DEL	ATAT	ATAT	-	rs2548319	byFrequency	TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr5:96512862_96512865delATAT	ENST00000283109.3	-	4	521_524	c.453_456delATAT	c.(451-456)ctfs	p.LY151fs	CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Frame_Shift_Del_p.LY151fs	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	151							ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		GACGAGATAAATATAGCCATGACA	0.328													39	154	---	---	---	---					
KRT80	144501	broad.mit.edu	37	12	52567385	52567386	+	Splice_Site	INS	-	-	G			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr12:52567385_52567386insG	ENST00000313234.5	-	5	926_927	c.831_splice	c.e5+1	p.A277_splice	KRT80_ENST00000394815.2_Splice_Site_p.A277_splice	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	277	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		CAGCCCCACCTGGCTCCGAGAG	0.649													48	57	---	---	---	---					
KIAA0391	9692	broad.mit.edu	37	14	35592700	35592700	+	Frame_Shift_Del	DEL	T	T	-			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr14:35592700delT	ENST00000557565.1	+	2	630	c.249delT	c.(247-249)cafs	p.H83fs	KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000603588.1_Intron|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.H83fs			O15091	MRRP3_HUMAN	KIAA0391	83					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CTGTTCCTCATTTTTTTTTAG	0.423													9	121	---	---	---	---					
SPTBN5	51332	broad.mit.edu	37	15	42149883	42149883	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr15:42149883delC	ENST00000320955.6	-	50	8479	c.8252delG	c.(8251-8253)gcfs	p.G2751fs		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2751					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGCTGGGTGGCCCCCCTGCAG	0.612													9	12	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													12	233	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74378976	74378976	+	RNA	DEL	T	T	-	rs35591542		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr16:74378976delT	ENST00000429810.2	-	0	1086																											ACCTCTTGAAttttttttttt	0.418													2	4	---	---	---	---					
UHRF1	29128	broad.mit.edu	37	19	4960949	4960949	+	RNA	DEL	T	T	-	rs147409935		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:4960949delT	ENST00000592666.1	+	0	3092							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TTTGTCTTCCttttttttttt	0.343													3	3	---	---	---	---					
LSR	51599	broad.mit.edu	37	19	35757581	35757582	+	Splice_Site	DEL	GC	GC	-			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:35757581_35757582delGC	ENST00000602122.1	+	6	1526_1527	c.1039_splice	c.e6-1	p.A347_splice	LSR_ENST00000361790.3_Splice_Site_p.A366_splice|LSR_ENST00000354900.3_Splice_Site_p.A347_splice|LSR_ENST00000360798.3_Splice_Site_p.A298_splice|LSR_ENST00000427250.1_Splice_Site_p.A210_splice|LSR_ENST00000347609.4_Intron			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	366					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTCTCCCCCAGCTGGTGGCCAA	0.629													7	5	---	---	---	---					
PHLDB3	653583	broad.mit.edu	37	19	43991227	43991227	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr19:43991227delC	ENST00000292140.5	-	10	1558	c.1198delG	c.(1198-1200)agfs	p.E400fs		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	400										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CTCCCCCTCTCCCCCCTTTTC	0.572													2	4	---	---	---	---					
SALL4	57167	broad.mit.edu	37	20	50407958	50407971	+	Frame_Shift_Del	DEL	GTGTCTAGCGCCAC	GTGTCTAGCGCCAC	-	rs13038893	byFrequency	TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr20:50407958_50407971delGTGTCTAGCGCCAC	ENST00000217086.4	-	2	1162_1175	c.1051_1064delGTGGCGCTAGACAC	c.(1051-1065)afs	p.VALDT351fs	SALL4_ENST00000395997.3_Frame_Shift_Del_p.VALDT351fs|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	351					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						TTTCTTGGATGTGTCTAGCGCCACAGTGGAGAAA	0.607													18	78	---	---	---	---					
TCFL5	10732	broad.mit.edu	37	20	61488874	61488874	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr20:61488874delC	ENST00000335351.3	-	4	1203	c.1111delG	c.(1111-1113)ccfs	p.A371fs	TCFL5_ENST00000217162.5_Frame_Shift_Del_p.A323fs	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	371					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					CCTTGTGTGGCGGTGGCACCT	0.582													19	133	---	---	---	---					
ANKRD20A11P	391267	broad.mit.edu	37	21	15347257	15347258	+	RNA	INS	-	-	A	rs80199214		TCGA-UF-A719-01A-12D-A34J-08	TCGA-UF-A719-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36c39e36-7542-4fae-90aa-6c4d21bda05e	3b310e00-2f2e-46d3-95c4-c968cb1caf03	g.chr21:15347257_15347258insA	ENST00000344693.5	-	0	736					NR_027270.1																						ACCCTGCACAGAAAAAAAGTTG	0.307													6	4	---	---	---	---					
