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
EPHA8	2046	broad.mit.edu	37	1	22902985	22902985	+	Silent	SNP	C	C	T	rs142515766	byFrequency	TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr1:22902985C>T	uc001bfx.1	+	2	560	c.435C>T	c.(433-435)atC>atT	p.I145I	EPHA8_uc001bfw.3_Silent_p.I145I	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	145						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCTCAAAATCGACACCATTG	0.612												
FAM129A	116496	broad.mit.edu	37	1	184764446	184764446	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr1:184764446C>T	uc001gra.3	-	13	2646	c.2452G>A	c.(2452-2454)Gag>Aag	p.E818K	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	818	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GTGCAGGCCTCTCCTGGGAGC	0.647												
CACNA1S	779	broad.mit.edu	37	1	201052298	201052298	+	Missense_Mutation	SNP	C	C	T	rs146696298		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr1:201052298C>T	uc001gvv.3	-	9	1612	c.1385G>A	c.(1384-1386)cGt>cAt	p.R462H		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	462					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ACCTTGCAAACGGGTCAGCCA	0.557												
KLHL12	59349	broad.mit.edu	37	1	202862387	202862387	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr1:202862387delC	uc001gyo.1	-	10	1760	c.1560delG	c.(1558-1560)gggfs	p.G520fs	KLHL12_uc001gym.1_Intron|KLHL12_uc001gyn.1_Intron|KLHL12_uc010pqc.1_Frame_Shift_Del_p.G558fs|KLHL12_uc009xah.1_Frame_Shift_Del_p.G419fs	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	Homo sapiens kelch-like 12 (Drosophila) (KLHL12), mRNA.	520	Interaction with DVL3.				Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CATAGAGTCTCCCCCGAAGCA	0.468												
PPME1	51400	broad.mit.edu	37	11	73914828	73914828	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr11:73914828A>T	uc001ouw.3	+	1	256	c.157A>T	c.(157-159)Atg>Ttg	p.M53L	PPME1_uc009yty.3_5'Flank	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN	Homo sapiens protein phosphatase methylesterase 1 (PPME1), mRNA.	53					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					TTTTGAGTCCATGGAAGATGT	0.373												
CLECL1	160365	broad.mit.edu	37	12	9885637	9885637	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr12:9885637delA	uc001qwi.3	-	0	259	c.224delT	c.(223-225)ttgfs	p.L75fs	CLECL1_uc001qwj.3_Frame_Shift_Del_p.L75fs	NM_001253750	NP_001240679	Q8IZS7	CLCL1_HUMAN	Homo sapiens C-type lectin-like 1 (CLECL1), transcript variant 3, mRNA.	75						integral to membrane|plasma membrane	sugar binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						TGCACAGATCAAAAAGAGAGA	0.423												
C12orf40	283461	broad.mit.edu	37	12	40040162	40040162	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr12:40040162G>C	uc001rmc.3	+	3	401	c.234G>C	c.(232-234)atG>atC	p.M78I	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	78										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATGTGAACATGAATAGAGACA	0.279												
DHRS2	10202	broad.mit.edu	37	14	24108199	24108199	+	Silent	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr14:24108199G>A	uc001wkt.4	+	1	573	c.126G>A	c.(124-126)acG>acA	p.T42T	DHRS2_uc010aku.1_Silent_p.T42T|DHRS2_uc001wku.4_Silent_p.T42T|DHRS2_uc010akv.3_Non-coding_Transcript	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.	20					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CCGTGGTCACGGGGTCCACCA	0.597												
C15orf42	90381	broad.mit.edu	37	15	90168464	90168464	+	Silent	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr15:90168464C>T	uc002boe.3	+	19	4923	c.4923C>T	c.(4921-4923)acC>acT	p.T1641T	C15orf42_uc021sug.1_Silent_p.T1640T	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1641					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GGGGGCAAACCTACATCTGCC	0.612												
MSLN	10232	broad.mit.edu	37	16	816982	816982	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr16:816982G>A	uc002cjw.2	+	13	1606	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	MSLN_uc002cju.1_Missense_Mutation_p.E491K|MSLN_uc002cjt.1_Missense_Mutation_p.E491K|MSLN_uc010brd.1_Missense_Mutation_p.E490K|MSLN_uc002cjy.1_Missense_Mutation_p.E156K	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	499					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GAACGGGTCCGAATACTTCGT	0.632												
PPL	5493	broad.mit.edu	37	16	4945705	4945705	+	Missense_Mutation	SNP	C	C	T	rs142355114		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr16:4945705C>T	uc002cyd.1	-	9	1075	c.985G>A	c.(985-987)Gtg>Atg	p.V329M		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	329					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCGTCCTTCACGTCTTCGTGA	0.577												
SRCAP	10847	broad.mit.edu	37	16	30721206	30721206	+	Silent	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr16:30721206G>A	uc002dze.1	+	7	1276	c.891G>A	c.(889-891)gaG>gaA	p.E297E	SRCAP_uc021tgn.1_Silent_p.E297E|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.E154E|SNORA30_uc002dzh.1_5'Flank	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	297	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ATGAGGAAGAGGATGATGAGG	0.522												
ZNF99	7652	broad.mit.edu	37	19	22941588	22941588	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:22941588C>T	uc021urt.1	-	3	1278	c.1123G>A	c.(1123-1125)Ggc>Agc	p.G375S		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAGCTTTGCCGCATTCTTCA	0.368												
MAP4K1	11184	broad.mit.edu	37	19	39104548	39104548	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:39104548G>A	uc002oix.1	-	7	613	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	MAP4K1_uc002oiy.1_Missense_Mutation_p.R169C|MAP4K1_uc010xug.2_5'UTR	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	169	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AAAGAGAGGCGTCTGGCCAGT	0.627												
ACTN4	81	broad.mit.edu	37	19	39219650	39219650	+	Silent	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:39219650C>T	uc002oja.2	+	19	2552	c.2433C>T	c.(2431-2433)ttC>ttT	p.F811F	ACTN4_uc021uug.1_Silent_p.F592F	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Homo sapiens actinin, alpha 4 (ACTN4), mRNA.	811	EF-hand 2.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGCCGAGTTCAACCGCATCA	0.632												
NCCRP1	342897	broad.mit.edu	37	19	39691346	39691346	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:39691346C>T	uc002okq.1	+	5	797	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	Homo sapiens non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) (NCCRP1), mRNA.	260	FBA.				protein catabolic process			p.R260R(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						TGGTGGGCTGCGGCGGACACG	0.622												
FCGBP	8857	broad.mit.edu	37	19	40396029	40396029	+	Silent	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:40396029C>T	uc002omp.4	-	14	7376	c.7368G>A	c.(7366-7368)tcG>tcA	p.S2456S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2456	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGGATCTCCCGACGCCTGGC	0.682												
ZNF526	116115	broad.mit.edu	37	19	42730234	42730234	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:42730234C>T	uc002osz.1	+	2	1835	c.1679C>T	c.(1678-1680)cCc>cTc	p.P560L	ZNF526_uc021uvc.1_Missense_Mutation_p.P560L	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	Homo sapiens zinc finger protein 526 (ZNF526), mRNA.	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GCCCGCGCCCCCCGCCTCCCC	0.652												
CCDC85A	114800	broad.mit.edu	37	2	56599613	56599613	+	Silent	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr2:56599613G>A	uc002rzn.3	+	4	1954	c.1452_splice	c.e4+1	p.P484_splice	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	484										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTACTCTCCCGGTGAGTGAAG	0.517												
BCL11A	53335	broad.mit.edu	37	2	60688423	60688423	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr2:60688423C>T	uc002sae.1	-	3	1852	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	BCL11A_uc002sab.3_Missense_Mutation_p.A542T|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.A211T|BCL11A_uc010ypj.2_Missense_Mutation_p.A508T|BCL11A_uc002sad.1_Missense_Mutation_p.A390T|BCL11A_uc002saf.1_Missense_Mutation_p.A508T	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	542					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCGGGCAGGGCGCGGCTCTCG	0.701			T	IGH@	B-CLL							
SGPP2	130367	broad.mit.edu	37	2	223423423	223423423	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr2:223423423C>T	uc010zlo.2	+	4	1006	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F	SGPP2_uc010zlp.2_Missense_Mutation_p.L208F	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN	Homo sapiens sphingosine-1-phosphate phosphatase 2 (SGPP2), mRNA.	336					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		TGTGTTGATCCTCTTGGTTCG	0.478												
NCOA6	23054	broad.mit.edu	37	20	33364240	33364240	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr20:33364240G>T	uc002xav.3	-	4	2818	c.247C>A	c.(247-249)Cta>Ata	p.L83I	NCOA6_uc002xaw.3_Missense_Mutation_p.L83I|NCOA6_uc021wcd.1_Missense_Mutation_p.L83I|NCOA6_uc021wce.1_Missense_Mutation_p.L83I|NCOA6_uc021wcf.1_Missense_Mutation_p.L83I|NCOA6_uc010gew.1_Missense_Mutation_p.L83I	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	83	CREBBP-binding region.|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			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						TGTACTTTTAGCTTGCTGGAC	0.438												
SPO11	23626	broad.mit.edu	37	20	55908298	55908298	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr20:55908298C>G	uc002xye.3	+	2	393	c.300C>G	c.(298-300)atC>atG	p.I100M	SPO11_uc002xyf.3_Missense_Mutation_p.I62M	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	Homo sapiens SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae) (SPO11), transcript variant 1, mRNA.	100					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity	p.I100I(2)		autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			CCAGAAAGATCAAAAGTGATT	0.303								Editing and processing nucleases				
OSBPL2	9885	broad.mit.edu	37	20	60831247	60831247	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr20:60831247G>A	uc002yck.1	+	1	209	c.7G>A	c.(7-9)Gga>Aga	p.G3R	OSBPL2_uc002ycl.1_Missense_Mutation_p.G3R|OSBPL2_uc011aah.1_5'UTR	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA.	3					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			AAGGATGAACGGAGAGGAAGA	0.483												
PIWIL3	440822	broad.mit.edu	37	22	25150829	25150829	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr22:25150829G>A	uc003abd.1	-	6	1112	c.695C>T	c.(694-696)aCt>aTt	p.T232I	PIWIL3_uc011ajx.1_Missense_Mutation_p.T123I|PIWIL3_uc010gut.1_Missense_Mutation_p.T232I|PIWIL3_uc011ajy.1_Missense_Mutation_p.T123I	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	232					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAGCTTGAAAGTTCTGGAAAT	0.333												
PKDREJ	10343	broad.mit.edu	37	22	46655574	46655574	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr22:46655574C>T	uc003bhh.3	-	0	3646	c.3646G>A	c.(3646-3648)Ggg>Agg	p.G1216R		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1216					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATCACATGCCCCCGAAGATGC	0.448												
LHFPL4	375323	broad.mit.edu	37	3	9594193	9594193	+	Silent	SNP	G	G	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr3:9594193G>T	uc003bry.3	-	1	457	c.171C>A	c.(169-171)ggC>ggA	p.G57G		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	57						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GGCCGAAGTAGCCAGGCTTGG	0.652												
NPRL2	10641	broad.mit.edu	37	3	50386328	50386328	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr3:50386328G>A	uc003daj.1	-	4	965	c.562C>T	c.(562-564)Cag>Tag	p.Q188*	CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.	188					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						AGGTCCCACTGTGAGTTGAAG	0.537												
NPRL2	10641	broad.mit.edu	37	3	50387415	50387416	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr3:50387415_50387416delTG	uc003daj.1	-	1	519_520	c.116_117delCA	c.(115-117)acafs	p.T39fs	CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.	39	Interaction with PDPK1.				negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						ACACTTGGACTGTGTCAAACAG	0.559												
KLHL6	89857	broad.mit.edu	37	3	183226008	183226008	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr3:183226008G>A	uc003flr.3	-	2	806	c.748C>T	c.(748-750)Cga>Tga	p.R250*	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Nonsense_Mutation_p.R248*	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	250	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			AAGCAGAGTCGTTCTGATGGC	0.552												
PDS5A	23244	broad.mit.edu	37	4	39865056	39865056	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr4:39865056C>T	uc003guv.4	-	23	3206	c.2666G>A	c.(2665-2667)cGa>cAa	p.R889Q		NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	889					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						AGCAGCTAATCGCAAGCGAGA	0.348												
FRAS1	80144	broad.mit.edu	37	4	79350365	79350365	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr4:79350365G>A	uc003hlb.2	+	35	5268	c.4828G>A	c.(4828-4830)Ggc>Agc	p.G1610S	FRAS1_uc003hkw.3_Missense_Mutation_p.G1610S|FRAS1_uc010ijj.2_Missense_Mutation_p.G30S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1609					cell communication	integral to membrane|plasma membrane	metal ion binding	p.G1610G(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGCCCAGGAGGCAGCACTTC	0.527												
GK	2713	broad.mit.edu	37	4	166200284	166200284	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr4:166200284G>A	uc003ird.3	-	0	892	c.514C>T	c.(514-516)Cga>Tga	p.R172*	KLHL2_uc003irb.3_Intron|KLHL2_uc011cjm.2_Intron|KLHL2_uc003irc.3_Intron|KLHL2_uc010ira.3_Intron	NM_000167	NP_000158	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 2, mRNA.	172					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						AAAAGAGCTCGTTTTTCTTCA	0.453												
TRIML1	339976	broad.mit.edu	37	4	189068102	189068102	+	Missense_Mutation	SNP	C	C	T	rs147254109		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr4:189068102C>T	uc003izm.1	+	5	1098	c.983C>T	c.(982-984)gCg>gTg	p.A328V	TRIML1_uc003izn.1_Missense_Mutation_p.A52V	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	328	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.A328V(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GACCAGTCTGCGACTGTGCTG	0.537												
DNAH5	1767	broad.mit.edu	37	5	13762882	13762882	+	Silent	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr5:13762882C>T	uc003jfd.2	-	59	10272	c.10230G>A	c.(10228-10230)acG>acA	p.T3410T	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3410	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCATAGCTTTCGTCCAGGAAC	0.453									Kartagener syndrome			
OCLN	4950	broad.mit.edu	37	5	68805301	68805301	+	Silent	SNP	C	C	T	rs150730577	byFrequency	TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr5:68805301C>T	uc003jwu.3	+	2	820	c.384C>T	c.(382-384)taC>taT	p.Y128Y	OCLN_uc003jwv.4_Silent_p.Y128Y|OCLN_uc021xzq.1_Intron|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_Intron|OCLN_uc021xzt.1_Intron	NM_002538	NP_001192184	Q16625	OCLN_HUMAN	Homo sapiens occludin (OCLN), transcript variant 1, mRNA.	128	Gly/Tyr-rich.|MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity	p.Y128H(1)		endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		gctatggctaCGGAGGCTATA	0.488												
ADAMTS19	171019	broad.mit.edu	37	5	129015540	129015540	+	Missense_Mutation	SNP	G	G	A	rs149851287		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr5:129015540G>A	uc003kvb.1	+	16	2572	c.2572G>A	c.(2572-2574)Gtt>Att	p.V858I	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	858	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGGAACTACCGTTCATTATGT	0.433												
GPX5	2880	broad.mit.edu	37	6	28497279	28497279	+	Missense_Mutation	SNP	G	G	A	rs60523386	byFrequency	TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr6:28497279G>A	uc003nll.2	+	1	141	c.139G>A	c.(139-141)Gca>Aca	p.A47T	GPX5_uc003nlm.2_Missense_Mutation_p.A47T|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	47					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity	p.A47T(4)		endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TGAGGCCATCGCACTTAATAA	0.428												
CARD11	84433	broad.mit.edu	37	7	2983971	2983971	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:2983971G>A	uc003smv.3	-	4	893	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	187					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TAGCTGTCCCGCTCTTCCTTC	0.557			Mis		DLBCL							
HERPUD2	64224	broad.mit.edu	37	7	35712865	35712865	+	Silent	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:35712865C>T	uc003tes.4	-	2	830	c.171G>A	c.(169-171)gtG>gtA	p.V57V	HERPUD2_uc003tet.3_Silent_p.V57V	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	Homo sapiens HERPUD family member 2 (HERPUD2), mRNA.	57	Ubiquitin-like.				response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TGCCCGAATACACCAATCTCT	0.373												
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:44684936delT	uc003tln.3	+	2	392	c.233delT	c.(232-234)attfs	p.I78fs	OGDH_uc003tlm.3_Frame_Shift_Del_p.I78fs|OGDH_uc011kbx.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kby.2_Intron|OGDH_uc003tlp.3_Frame_Shift_Del_p.I78fs|OGDH_uc011kbz.2_5'UTR|OGDH_uc003tlo.1_5'UTR	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	78					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TCATGGGACATTTTTTTTCGC	0.577												
FAM40B	57464	broad.mit.edu	37	7	129104580	129104580	+	Splice_Site	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:129104580G>A	uc011koy.2	+	16	1816	c.1776_splice	c.e16+1	p.Q592_splice	FAM40B_uc003vow.3_Splice_Site_p.Q592_splice|FAM40B_uc011koz.2_Splice_Site_p.Q84_splice	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	592										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TATCTACCAGGTGAGCAGCTA	0.468												
CREB3L2	64764	broad.mit.edu	37	7	137686380	137686380	+	Silent	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:137686380G>A	uc003vtw.3	-	0	468	c.72C>T	c.(70-72)ccC>ccT	p.P24P	CREB3L2_uc003vtx.2_Silent_p.P24P|CREB3L2_uc003vty.4_Silent_p.P24P|AKR1D1_uc011kqd.1_5'Flank|AKR1D1_uc011kqb.1_5'Flank|AKR1D1_uc011kqc.1_5'Flank	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA.	24					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CGCCGTCCCCGGGCTCTGACA	0.706			T	FUS	fibromyxoid sarcoma							
PRSS3P2	154754	broad.mit.edu	37	7	142479940	142479940	+	Silent	SNP	C	C	T	rs58649169	by1000genomes	TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:142479940C>T	uc011ksq.2	+	1	155	c.72C>T	c.(70-72)atC>atT	p.I24I	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		ATGACAAGATCGTTGGGGGCT	0.557												
TAS2R60	338398	broad.mit.edu	37	7	143140562	143140562	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:143140562T>C	uc011ktg.2	+	0	17	c.17T>C	c.(16-18)aTg>aCg	p.M6T	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	6					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GGAGACCACATGGTTCTAGGA	0.468												
SSPO	23145	broad.mit.edu	37	7	149509076	149509076	+	Missense_Mutation	SNP	C	C	T	rs139588484	by1000genomes	TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:149509076C>T	uc010lpk.3	+	67	9613	c.9613C>T	c.(9613-9615)Cgg>Tgg	p.R3205W		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3208	TSP type-1 11.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCATCGGCACCGGTTCTGTGC	0.687												
DOCK5	80005	broad.mit.edu	37	8	25181427	25181427	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:25181427C>A	uc003xeg.3	+	16	1816	c.1679C>A	c.(1678-1680)aCc>aAc	p.T560N	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.T274N|DOCK5_uc003xei.3_Missense_Mutation_p.T130N|DOCK5_uc003xej.3_5'Flank	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	560	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCGGATGGCACCACTCTGCAG	0.488												
TEX15	56154	broad.mit.edu	37	8	30700338	30700338	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:30700338C>T	uc003xil.3	-	0	6196	c.6196G>A	c.(6196-6198)Gtc>Atc	p.V2066I		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2066										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GAGACCATGACGATTTCAATA	0.338												
PCMTD1	115294	broad.mit.edu	37	8	52733200	52733200	+	Missense_Mutation	SNP	T	T	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:52733200T>A	uc003xqx.4	-	5	1126	c.785A>T	c.(784-786)gAg>gTg	p.E262V	PCMTD1_uc011ldm.2_Missense_Mutation_p.E132V|PCMTD1_uc011ldn.2_Missense_Mutation_p.E74V|PCMTD1_uc010lya.3_Missense_Mutation_p.E186V	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	262						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.E262E(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GGCCTGCATCTCATCATTTAT	0.408												
TCEA1	6917	broad.mit.edu	37	8	54897020	54897020	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:54897020C>T	uc003xru.3	-	6	904	c.581G>A	c.(580-582)aGg>aAg	p.R194K	TCEA1_uc003xrv.3_Missense_Mutation_p.R173K|TCEA1_uc011ldw.2_Intron|TCEA1_uc010lyg.3_Non-coding_Transcript	NM_006756	NP_006747	P23193	TCEA1_HUMAN	Homo sapiens transcription elongation factor A (SII), 1 (TCEA1), transcript variant 1, mRNA.	194	TFIIS central.				positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			ATTTGATATCCTACTTCGTAC	0.333			T	PLAG1	salivary adenoma							
OPLAH	26873	broad.mit.edu	37	8	145108275	145108275	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:145108275G>A	uc003zar.3	-	19	2790	c.2708C>T	c.(2707-2709)gCg>gTg	p.A903V	OPLAH_uc003zas.1_Silent_p.G177G	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	903							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CTTGCCTGGCGCCCGCAGGGC	0.642												
TLE4	7091	broad.mit.edu	37	9	82333807	82333807	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr9:82333807C>T	uc004ald.3	+	15	2435	c.1586C>T	c.(1585-1587)aCg>aTg	p.T529M	TLE4_uc004alc.3_Missense_Mutation_p.T504M|TLE4_uc010mpr.3_Missense_Mutation_p.T383M|TLE4_uc004ale.3_Missense_Mutation_p.T141M|TLE4_uc011lsq.2_Missense_Mutation_p.T472M|TLE4_uc010mps.3_Missense_Mutation_p.T428M|TLE4_uc004alf.3_Missense_Mutation_p.T443M	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CACGTGTACACGGGTGGGAAG	0.602												
CIZ1	25792	broad.mit.edu	37	9	130952718	130952718	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr9:130952718A>G	uc011mas.2	-	2	431	c.266T>C	c.(265-267)cTc>cCc	p.L89P	CIZ1_uc004btr.3_Missense_Mutation_p.L59P|CIZ1_uc004bts.3_Missense_Mutation_p.L59P|CIZ1_uc011maq.2_Missense_Mutation_p.L59P|CIZ1_uc004btu.3_Missense_Mutation_p.L59P|CIZ1_uc004btt.3_Missense_Mutation_p.L59P|CIZ1_uc011mar.2_Intron|CIZ1_uc004btw.3_Missense_Mutation_p.L59P|CIZ1_uc004btv.3_Missense_Mutation_p.L59P|CIZ1_uc004btx.2_Missense_Mutation_p.L59P	NM_012127	NP_036259	Q9ULV3	CIZ1_HUMAN	Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 1, mRNA.	59						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CTGCGGGGGGAGCCCCCTGTG	0.582												
ABL1	25	broad.mit.edu	37	9	133750310	133750310	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr9:133750310G>T	uc004bzw.3	+	6	1144	c.1141G>T	c.(1141-1143)Gat>Tat	p.D381Y	ABL1_uc004bzv.3_Missense_Mutation_p.D400Y	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	381	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	p.?(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GAAGGTAGCTGATTTTGGCCT	0.537			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""							
LHX3	8022	broad.mit.edu	37	9	139091685	139091685	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr9:139091685G>A	uc004cgz.3	-	2	427	c.308C>T	c.(307-309)cCg>cTg	p.P103L	LHX3_uc022bpm.1_Silent_p.P119P|LHX3_uc004cha.3_Missense_Mutation_p.P98L	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN	Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.	98	LIM zinc-binding 2.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I102V(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CTGCGTGGGCGGGATGCCCAG	0.716												
P2RY8	286530	broad.mit.edu	37	X	1584486	1584486	+	Silent	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chrX:1584486G>A	uc022brv.1	-	0	966	c.966C>T	c.(964-966)cgC>cgT	p.R322R	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.R322R	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	322						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGAGGCTCTCGCGGCGCGTGT	0.672			T	CRLF2	"""B-ALL, Downs associated ALL"""							
FAM47A	158724	broad.mit.edu	37	X	34149408	34149408	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chrX:34149408G>T	uc004ddg.3	-	0	1040	c.988C>A	c.(988-990)Ccg>Acg	p.P330T		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	330										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCAGTCTCCGGAGGCTCCGGG	0.637												
L1CAM	3897	broad.mit.edu	37	X	153130626	153130626	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chrX:153130626G>A	uc004fjb.3	-	20	2897	c.2789C>T	c.(2788-2790)tCg>tTg	p.S930L	L1CAM_uc004fjc.3_Missense_Mutation_p.S930L|L1CAM_uc010nuo.3_Missense_Mutation_p.S925L	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	930	Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGGTGTTCGACTGGCACTC	0.701