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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FNBP1L	54874	broad.mit.edu	37	1	93996339	93996339	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:93996339C>T	uc010otk.2	+	6	689	c.538C>T	c.(538-540)Cat>Tat	p.H180Y	FNBP1L_uc001dpv.3_Missense_Mutation_p.H180Y|FNBP1L_uc001dpw.3_Missense_Mutation_p.H180Y	NM_001164473	NP_001157945	Q5T0N5	FBP1L_HUMAN	Homo sapiens formin binding protein 1-like (FNBP1L), transcript variant 3, mRNA.	180	Induction of membrane tubulation (By similarity).				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TCTGCGTACGCATATGGCCGA	0.318000														11			5		0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605207	140605207	+	Silent	SNP	G	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr5:140605207G>C	uc003ljb.3	+	0	2130	c.2130G>C	c.(2128-2130)gcG>gcC	p.A710A		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	710					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.A710V(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGTGGCGGTGCGGCTGT	0.701000														166			96		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24835172	24835172	+	Silent	SNP	T	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr10:24835172T>C	uc001iru.4	+	20	6154	c.5751T>C	c.(5749-5751)caT>caC	p.H1917H	KIAA1217_uc001irs.3_Silent_p.H1238H|KIAA1217_uc001irt.4_Silent_p.H1283H|KIAA1217_uc010qcy.2_Silent_p.H1348H|KIAA1217_uc010qcz.2_Silent_p.H1323H|KIAA1217_uc001irw.3_3'UTR|KIAA1217_uc001irz.3_3'UTR|KIAA1217_uc001irx.3_3'UTR|KIAA1217_uc001iry.3_3'UTR	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1917					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGACCATCCATACTCCCAGCC	0.532000														42			43		0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78485857	78485857	+	Missense_Mutation	SNP	C	G	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr15:78485857C>G	uc002bdh.3	-	4	860	c.654G>C	c.(652-654)aaG>aaC	p.K218N	ACSBG1_uc010umx.2_Intron|ACSBG1_uc010umw.2_Missense_Mutation_p.K214N|ACSBG1_uc010umy.2_Missense_Mutation_p.K111N	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	218					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CCTTCAGGATCTTTTCCAGCT	0.577000														63			45		0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161470014	161470014	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr6:161470014C>A	uc003qtn.3	+	2	852	c.710C>A	c.(709-711)tCa>tAa	p.S237*	MAP3K4_uc010kkc.1_Nonsense_Mutation_p.S237*|MAP3K4_uc003qto.3_Nonsense_Mutation_p.S237*|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	237					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.S237L(3)|p.S237S(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAGCTTACCTCAGTCTCAAAG	0.433000														26			23		3.62473e-10	3.799e-10	1	1	0
KIAA0947	23379	broad.mit.edu	37	5	5461992	5461992	+	Missense_Mutation	SNP	A	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr5:5461992A>T	uc003jdm.4	+	12	2767	c.2545A>T	c.(2545-2547)Acc>Tcc	p.T849S		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	849										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGAATTCAAGACCACTGCATC	0.413000														49			34		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7721912	7721912	+	Missense_Mutation	SNP	G	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:7721912G>C	uc001aoi.3	+	7	998	c.791G>C	c.(790-792)tGc>tCc	p.C264S		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AACTGCCTCTGCACCGGCAGC	0.687000			T	WWTR1	epitheliod hemangioendothelioma									12			6		0	0	1	0	0
MAP2K5	5607	broad.mit.edu	37	15	67985904	67985904	+	Missense_Mutation	SNP	G	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr15:67985904G>T	uc002aqu.3	+	14	1623	c.970G>T	c.(970-972)Gcg>Tcg	p.A324S	MAP2K5_uc002aqv.3_Missense_Mutation_p.A324S|MAP2K5_uc010ujw.2_Missense_Mutation_p.A288S|MAP2K5_uc002aqx.3_Missense_Mutation_p.A134S	NM_145160	NP_660143	Q13163	MP2K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 5 (MAP2K5), transcript variant 1, mRNA.	324	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TGCTTATATGGCGGTAAGTAA	0.303000														52			25		2.48779e-11	2.65853e-11	1	1	0
ADCY10	55811	broad.mit.edu	37	1	167870956	167870956	+	Missense_Mutation	SNP	T	A	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:167870956T>A	uc001ger.3	-	4	678	c.380A>T	c.(379-381)cAt>cTt	p.H127L	ADCY10_uc010plj.2_Intron|ADCY10_uc009wvk.3_Missense_Mutation_p.H35L|ADCY10_uc009wvl.3_Missense_Mutation_p.H126L|ADCY10_uc009wvm.2_Intron	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	127	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAACAATCCATGGATCTCCAG	0.478000														128			75		0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45869784	45869784	+	Missense_Mutation	SNP	C	A	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr10:45869784C>A	uc001jce.3	+	0	156	c.57C>A	c.(55-57)gaC>gaA	p.D19E	ALOX5_uc009xmt.3_Missense_Mutation_p.D19E|ALOX5_uc010qfg.2_Missense_Mutation_p.D19E|ALOX5_uc021ppr.1_Missense_Mutation_p.D19E	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	19	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CCGGCACTGACGACTACATCT	0.701000														6			5		0.00116845	0.00116845	1	1	0
LSG1	55341	broad.mit.edu	37	3	194379786	194379786	+	Missense_Mutation	SNP	T	G	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr3:194379786T>G	uc003fui.3	-	6	974	c.659A>C	c.(658-660)gAg>gCg	p.E220A		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	Homo sapiens large subunit GTPase 1 homolog (S. cerevisiae) (LSG1), mRNA.	220					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		ACTCCGCTGCTCAGCAGTCAG	0.458000														139			80		0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61493234	61493234	+	Silent	SNP	C	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr2:61493234C>T	uc002sbe.3	-	41	5524	c.5502G>A	c.(5500-5502)aaG>aaA	p.K1834K	USP34_uc002sbf.3_5'UTR	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	1834					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTGATTTGCACTTTGGCTGTT	0.408000														41			31		0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102906786	102906786	+	Missense_Mutation	SNP	G	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr14:102906786G>T	uc001ylw.2	+	10	2818	c.2592G>T	c.(2590-2592)tgG>tgT	p.W864C	TECPR2_uc010awl.3_Missense_Mutation_p.W864C|TECPR2_uc010txx.2_Missense_Mutation_p.W27C	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	864							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CCCTTCTCTGGAAGATTGAAC	0.448000														95			52		2.44813e-32	2.77965e-32	1	1	0
DNMT3B	1789	broad.mit.edu	37	20	31374365	31374365	+	Missense_Mutation	SNP	C	G	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr20:31374365C>G	uc002wyc.3	+	4	685	c.364C>G	c.(364-366)Cgt>Ggt	p.R122G	DNMT3B_uc010ztx.1_Intron|DNMT3B_uc010zty.1_Intron|DNMT3B_uc002wyd.3_Missense_Mutation_p.R122G|DNMT3B_uc002wye.3_Missense_Mutation_p.R122G|DNMT3B_uc010ztz.2_Intron|DNMT3B_uc010zua.2_Intron|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.R134G	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	122	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	p.R122C(2)|p.R134C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCTTCCCCACGTTCCACCCG	0.632000														61			47		0	0	1	0	0
SENP3	26168	broad.mit.edu	37	17	7470323	7470323	+	Splice_Site	SNP	G	A	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr17:7470323G>A	uc002ghm.3	+	8	1624	c.1341_splice	c.e8+1	p.N447_splice	EIF4A1_uc002gho.2_Splice_Site	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 3 (SENP3), mRNA.	447	Protease.				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				GACCAAAAACGTGAGTTTTGA	0.408000														10			3		0	0	1	0	0
MTIF2	4528	broad.mit.edu	37	2	55470636	55470636	+	Missense_Mutation	SNP	A	G	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr2:55470636A>G	uc002ryn.3	-	12	2217	c.1480T>C	c.(1480-1482)Ttt>Ctt	p.F494L	MTIF2_uc010yox.2_Missense_Mutation_p.F163L|MTIF2_uc002ryo.3_Missense_Mutation_p.F494L	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	494					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CTTTCTAAAAACCGTAGAATT	0.338000														83			37		0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135781374	135781374	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr9:135781374C>T	uc004cca.2	-	14	1825	c.1591G>A	c.(1591-1593)Gtg>Atg	p.V531M	TSC1_uc004ccb.3_Missense_Mutation_p.V530M|TSC1_uc011mcq.1_Missense_Mutation_p.V480M|TSC1_uc011mcr.2_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	531					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TCAGGGTTCACGCTGGCGCCC	0.587000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					47			27		0	0	1	0	0
MAGEB4	4115	broad.mit.edu	37	X	30261230	30261230	+	Silent	SNP	C	A	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chrX:30261230C>A	uc004dcb.3	+	0	1174	c.978C>A	c.(976-978)ggC>ggA	p.G326G	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	326										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCAGGCGTGGCACTACAGCCA	0.512000														19			3		6.4e-05	6.51963e-05	1	1	0
ITGA1	3672	broad.mit.edu	37	5	52211309	52211309	+	Missense_Mutation	SNP	G	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr5:52211309G>T	uc003jou.3	+	14	2287	c.1873G>T	c.(1873-1875)Ggg>Tgg	p.G625W	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Missense_Mutation_p.G156W	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	625					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TCCATCAGGTGGGGATGGTAA	0.388000														80			55		1.03172e-35	1.19636e-35	1	1	0
TECPR2	9895	broad.mit.edu	37	14	102906785	102906785	+	Missense_Mutation	SNP	G	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr14:102906785G>T	uc001ylw.2	+	10	2817	c.2591G>T	c.(2590-2592)tGg>tTg	p.W864L	TECPR2_uc010awl.3_Missense_Mutation_p.W864L|TECPR2_uc010txx.2_Missense_Mutation_p.W27L	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	864							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GCCCTTCTCTGGAAGATTGAA	0.443000														96			53		1.73933e-33	1.99565e-33	1	1	0
SUV39H2	79723	broad.mit.edu	37	10	14939337	14939337	+	Missense_Mutation	SNP	A	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr10:14939337A>T	uc021png.1	+	2	776	c.670A>T	c.(670-672)Act>Tct	p.T224S	SUV39H2_uc001ing.3_Intron|SUV39H2_uc001inh.3_Missense_Mutation_p.T164S|SUV39H2_uc001ini.3_Missense_Mutation_p.T164S|SUV39H2_uc021pnh.1_Intron|SUV39H2_uc001inj.3_Missense_Mutation_p.T164S	NM_001193424	NP_078946	Q9H5I1	SUV92_HUMAN	Homo sapiens suppressor of variegation 3-9 homolog 2 (Drosophila) (SUV39H2), transcript variant 1, mRNA.	224	Pre-SET.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						CCCACCTGGTACTCCCATCTA	0.398000														78			43		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10312636	10312636	+	Silent	SNP	A	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr17:10312636A>T	uc002gmm.2	-	15	1952	c.1857T>A	c.(1855-1857)acT>acA	p.T619T	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	619	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GACTGGCTAGAGTCTTCATTG	0.423000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					54			67		0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29445939	29445939	+	Silent	SNP	C	G	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr22:29445939C>G	uc003aeg.3	+	7	1770	c.1770C>G	c.(1768-1770)ctC>ctG	p.L590L	ZNRF3_uc021wnq.1_Silent_p.L490L	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	590						integral to membrane	zinc ion binding	p.S590F(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCAGCTCCCTCAGCAGCGACT	0.672000														122			71		0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66620716	66620716	+	Missense_Mutation	SNP	A	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr11:66620716A>T	uc001ojn.1	-	10	1556	c.1507T>A	c.(1507-1509)Tac>Aac	p.Y503N	PC_uc001ojo.1_Missense_Mutation_p.Y503N|PC_uc001ojp.1_Missense_Mutation_p.Y503N	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	503					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AGACCGAGGTAGTGCAACAGC	0.622000														56			24		0	0	1	0	0
DKFZp666K117	0	broad.mit.edu	37	13	32527529	32527529	+	RNA	SNP	A	G	G	rs916756	by1000genomes	TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr13:32527529A>G	uc001utu.2	+	3		c.1287A>G			DKFZp666K117_uc010tdv.2_Intron|DKFZp666K117_uc001utv.3_Non-coding_Transcript					Homo sapiens eukaryotic translation elongation factor 1 delta pseudogene 3 (EEF1DP3), non-coding RNA.																		GCCCGCGTGCATGAGGCCCTG	0.443000														33			3		0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6501326	6501326	+	Missense_Mutation	SNP	C	A	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr19:6501326C>A	uc002mfg.1	-	2	356	c.249G>T	c.(247-249)caG>caT	p.Q83H	TUBB4A_uc002mff.1_Missense_Mutation_p.Q11H	NM_006087	NP_006078	P04350	TBB4_HUMAN	Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.	83					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										GCCGAAAGATCTGACCGAAGG	0.577000														20			23		9.57634e-11	1.01342e-10	1	1	0
GRID1	2894	broad.mit.edu	37	10	87407050	87407050	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr10:87407050T>C	uc001kdl.1	-	12	2203	c.2102A>G	c.(2101-2103)cAg>cGg	p.Q701R	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.Q272R|AX746544_uc001kdm.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	701						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CGTGCTGTCCTGCTCCAGGGG	0.552000										Multiple Myeloma(13;0.14)				234			137		0	0	1	0	0
IFITM1	8519	broad.mit.edu	37	11	315058	315058	+	Missense_Mutation	SNP	C	G	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr11:315058C>G	uc001loy.4	+	1	503	c.323C>G	c.(322-324)tCt>tGt	p.S108C		NM_003641	NP_003632	P13164	IFM1_HUMAN	Homo sapiens interferon induced transmembrane protein 1 (9-27) (IFITM1), mRNA.	108	Interaction with CAV1.				negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTATTCGGCTCTGTGACAGTC	0.507000														72			31		0	0	1	0	0
SLC22A7	10864	broad.mit.edu	37	6	43267444	43267444	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr6:43267444T>C	uc021yzt.1	+	3	682	c.583T>C	c.(583-585)Tat>Cat	p.Y195H	SLC22A7_uc010jyl.1_Missense_Mutation_p.Y193H|SLC22A7_uc003ous.3_Missense_Mutation_p.Y193H|SLC22A7_uc003out.3_Missense_Mutation_p.Y193H	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	195						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CTCCGTCAGCTATGTAATGTT	0.602000														104			60		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21937997	21937997	+	RNA	SNP	G	A	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr15:21937997G>A	uc010tzj.1	-	0		c.2743C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TTCTCCTCTGGAACAGAAGGC	0.478000														603			91		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47870900	47870900	+	Missense_Mutation	SNP	G	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr7:47870900G>C	uc003tny.2	-	41	6422	c.6388C>G	c.(6388-6390)Cag>Gag	p.Q2130E	C7orf69_uc003toa.1_Non-coding_Transcript	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2130					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CACCAAGGCTGAAGGGCCCTT	0.562000														146			45		0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114964232	114964232	+	Silent	SNP	G	C	C	rs55763520	byFrequency	TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:114964232G>C	uc001eew.3	-	10	1971	c.1887C>G	c.(1885-1887)ccC>ccG	p.P629P	TRIM33_uc010owr.2_Silent_p.P219P|TRIM33_uc010ows.2_Silent_p.P237P|TRIM33_uc001eex.3_Silent_p.P629P	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.	629					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|R-SMAD binding|co-SMAD binding|ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTACGGGAAAGGGTCCAGCAT	0.433000			T	RET	papillary thyroid									76			4		0	0	1	0	0
PUM1	9698	broad.mit.edu	37	1	31406096	31406096	+	Missense_Mutation	SNP	A	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:31406096A>T	uc001bsi.1	-	21	3636	c.3523T>A	c.(3523-3525)Tta>Ata	p.L1175I	PUM1_uc001bsf.1_Missense_Mutation_p.L843I|PUM1_uc001bsh.1_Missense_Mutation_p.L1177I|PUM1_uc001bsj.1_Missense_Mutation_p.L1151I|PUM1_uc010oga.1_Missense_Mutation_p.L1033I|PUM1_uc001bsk.1_Missense_Mutation_p.L1213I|PUM1_uc010ogb.1_Missense_Mutation_p.L1116I	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	1175					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ATGGGCCCTAAGTCAACACCG	0.552000														94			53		0	0	1	0	0
UCK1	83549	broad.mit.edu	37	9	134404931	134404931	+	Silent	SNP	G	A	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr9:134404931G>A	uc004cay.3	-	2	410	c.309C>T	c.(307-309)aaC>aaT	p.N103N	UCK1_uc010mzk.3_Silent_p.N94N|UCK1_uc004cba.3_Silent_p.N103N|UCK1_uc004caz.3_Non-coding_Transcript	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN	Homo sapiens uridine-cytidine kinase 1 (UCK1), transcript variant 1, mRNA.	103					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		CCTCCACGATGTTCTTCAGAG	0.547000														86			65		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28270470	28270470	+	Silent	SNP	T	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr10:28270470T>C	uc009xky.3	-	6	959	c.861A>G	c.(859-861)aaA>aaG	p.K287K	ARMC4_uc010qds.2_5'UTR|ARMC4_uc010qdt.2_5'UTR|ARMC4_uc001itz.3_Silent_p.K287K|ARMC4_uc010qdu.1_5'UTR	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	287							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AAATTGAACCTTTTCTCTCAT	0.294000														101			7		0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104081805	104081805	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr4:104081805C>T	uc003hxb.1	-	20	2353	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K	CENPE_uc003hxc.1_Missense_Mutation_p.E730K	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	755					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTTTCTACTTCAGAAGGTAAA	0.318000														39			31		0	0	1	0	0
SIGIRR	59307	broad.mit.edu	37	11	407548	407548	+	Missense_Mutation	SNP	A	G	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr11:407548A>G	uc001lpg.3	-	4	655	c.502T>C	c.(502-504)Tac>Cac	p.Y168H	SIGIRR_uc001lpd.2_Missense_Mutation_p.Y168H|SIGIRR_uc001lpf.2_Missense_Mutation_p.Y168H|SIGIRR_uc001lpe.1_Missense_Mutation_p.Y168H			Q6IA17	SIGIR_HUMAN	Homo sapiens single immunoglobulin and toll-interleukin 1 receptor (TIR) domain (SIGIRR), transcript variant 3, mRNA.	168	TIR.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TAGGAGACGTAGGCGTCGTAG	0.647000														21			8		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31362391	31362391	+	Missense_Mutation	SNP	G	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr15:31362391G>T	uc021sia.1	-	2	487	c.173C>A	c.(172-174)cCt>cAt	p.P58H	TRPM1_uc010azy.3_5'Flank|TRPM1_uc001zfl.3_5'Flank|TRPM1_uc021shz.1_Missense_Mutation_p.P41H|TRPM1_uc001zfm.3_Missense_Mutation_p.P19H|TRPM1_uc001zfn.4_Missense_Mutation_p.P19H	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	19					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACTTGGCAGAGGGGGGATATG	0.507000														196			133		1.84561e-53	2.18664e-53	1	1	0
ANKDD1A	348094	broad.mit.edu	37	15	65223120	65223120	+	Splice_Site	SNP	T	G	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr15:65223120T>G	uc002aoa.3	+	7	698	c.669_splice	c.e7+2	p.A223_splice	ANKDD1A_uc002anx.1_Splice_Site_p.A219_splice|ANKDD1A_uc002any.3_Splice_Site_p.A132_splice|ANKDD1A_uc002anz.3_Splice_Site_p.A132_splice|ANKDD1A_uc002aob.3_Splice_Site_p.A88_splice|ANKDD1A_uc002aoc.3_Splice_Site|ANKDD1A_uc010bha.3_Splice_Site_p.A132_splice	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	Homo sapiens ankyrin repeat and death domain containing 1A (ANKDD1A), mRNA.	223					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CAGAATGCGGTGAGTCACCGC	0.607000														16			12		0	0	1	0	0
SLC30A6	55676	broad.mit.edu	37	2	32422810	32422810	+	Missense_Mutation	SNP	T	A	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr2:32422810T>A	uc002rof.2	+	10	760	c.700T>A	c.(700-702)Ttc>Atc	p.F234I	SLC30A6_uc002roe.2_Missense_Mutation_p.F194I|SLC30A6_uc010ymw.2_Missense_Mutation_p.F165I|SLC30A6_uc010ezr.2_Missense_Mutation_p.F194I|SLC30A6_uc002rog.2_5'UTR|SLC30A6_uc010ezs.2_Missense_Mutation_p.F120I|SLC30A6_uc002roh.2_5'UTR	NM_001193513	NP_001180442	Q6NXT4	ZNT6_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 6 (SLC30A6), transcript variant 1, mRNA.	194						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TAGCAGTATCTTCCTTCCCCG	0.348000														75			47		0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19626146	19626146	+	Silent	SNP	G	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chrX:19626146G>T	uc004czm.3	-	8	1231	c.915C>A	c.(913-915)ggC>ggA	p.G305G	SH3KBP1_uc011mje.2_Silent_p.G44G|SH3KBP1_uc011mjf.2_Silent_p.G67G|SH3KBP1_uc004czl.3_Silent_p.G268G	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	305	SH3 3.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CTTCCCACCAGCCTACGTCGA	0.537000														7			30		4.3181e-19	4.80278e-19	1	1	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118588	118588	+	RNA	SNP	T	G	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chrGL000205.1:118588T>G	uc002kgk.4	+	0		c.1966T>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		TCCGGACATATGCATCATTGT	0.388000														28			4		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94057039	94057039	+	Missense_Mutation	SNP	G	T	T	rs145541630		TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr7:94057039G>T	uc003ung.1	+	48	3839	c.3368G>T	c.(3367-3369)cGc>cTc	p.R1123L	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	1123				Missing (in Ref. 17; CAA23761).	Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GACCAGCCTCGCTCAGCACCT	0.547000										HNSCC(75;0.22)				171			48		4.10826e-27	4.6165e-27	1	1	0
LHFPL2	10184	broad.mit.edu	37	5	77784725	77784725	+	Missense_Mutation	SNP	G	A	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr5:77784725G>A	uc003kfo.3	-	4	1358	c.682C>T	c.(682-684)Ctt>Ttt	p.L228F		NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 2 (LHFPL2), mRNA.	228						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		CCAAACTAAAGGAGGCAGATC	0.408000														57			37		0	0	1	0	0
C19orf21	126353	broad.mit.edu	37	19	758211	758211	+	Missense_Mutation	SNP	C	A	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr19:758211C>A	uc002lpo.3	+	1	1348	c.1265C>A	c.(1264-1266)cCt>cAt	p.P422H		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	422										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCATCCCACCTGATGCCTAC	0.652000														21			24		2.39556e-15	2.63754e-15	1	1	0
MST1P2	11209	broad.mit.edu	37	1	16974745	16974745	+	RNA	SNP	G	A	A	rs28526603	by1000genomes	TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:16974745G>A	uc010och.2	+	6		c.1205G>A			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCTGGAACCGGAGGGCCGGGG	0.711000														33			5		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115411657	115411657	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr10:115411657T>C	uc001lal.3	-	6	744	c.580A>G	c.(580-582)Aag>Gag	p.K194E	NRAP_uc001laj.3_Missense_Mutation_p.K194E|NRAP_uc001lak.3_Missense_Mutation_p.K194E	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	194						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGCCCTCTCTTATACTCCACC	0.547000														41			21		0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	803456	803456	+	Missense_Mutation	SNP	T	G	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr7:803456T>G	uc010krz.1	+	7	1648	c.1628T>G	c.(1627-1629)aTg>aGg	p.M543R	HEATR2_uc003siz.2_Missense_Mutation_p.M411R|HEATR2_uc003sja.3_Missense_Mutation_p.M1R	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	543							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CAGGAGACGATGGACTCACTG	0.607000														182			37		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151821345	151821345	+	Missense_Mutation	SNP	G	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr4:151821345G>T	uc010ipj.3	-	13	2024	c.1780C>A	c.(1780-1782)Ctg>Atg	p.L594M	LRBA_uc003ilu.4_Missense_Mutation_p.L594M|LRBA_uc010ipk.1_Missense_Mutation_p.L513M	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	594						Golgi apparatus|endoplasmic reticulum|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)					TCCGTGGACAGATAAGTATAG	0.413000														38			22		1.10513e-12	1.19267e-12	1	1	0
DOCK4	9732	broad.mit.edu	37	7	111629106	111629106	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr7:111629106T>C	uc003vfy.3	-	5	697	c.428A>G	c.(427-429)aAg>aGg	p.K143R	DOCK4_uc003vfx.3_Missense_Mutation_p.K143R|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.K143R	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	143					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding	p.E143Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AATGTGGCGCTTCACGTCCTT	0.572000														49			11		0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685498	125685498	+	Missense_Mutation	SNP	A	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chrX:125685498A>C	uc022cds.1	-	0	1094	c.1094T>G	c.(1093-1095)gTg>gGg	p.V365G	DCAF12L1_uc004eul.3_Missense_Mutation_p.V365G	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	365										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						ACCGGTGCCCACAGTGATGAT	0.632000														10			48		0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12334248	12334248	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr12:12334248C>T	uc001rah.4	-	5	1244	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.D368N	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	368	Beta-propeller 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCCACAGGATCGTAATCTATG	0.453000														109			140		0	0	1	0	0
WWC2	80014	broad.mit.edu	37	4	184182067	184182067	+	Missense_Mutation	SNP	T	A	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr4:184182067T>A	uc010irx.3	+	10	1473	c.1291T>A	c.(1291-1293)Tct>Act	p.S431T	WWC2_uc003ivk.4_Missense_Mutation_p.S226T|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Missense_Mutation_p.S113T|WWC2_uc003ivn.4_5'UTR	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	431	Ser-rich.									NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TTTCAGCCTCTCTGCCAGCAC	0.507000														16			16		0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110883658	110883658	+	Missense_Mutation	SNP	C	G	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:110883658C>G	uc001dzl.1	+	0	1714	c.1631C>G	c.(1630-1632)aCt>aGt	p.T544S	RBM15_uc001dzm.1_Missense_Mutation_p.T544S|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Missense_Mutation_p.T544S	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.	544					interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTGCCCTTGACTCATTATGAG	0.547000			T	MKL1	acute megakaryocytic leukemia									70			50		0	0	1	0	0
ABTB1	80325	broad.mit.edu	37	3	127396051	127396051	+	Silent	SNP	C	A	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr3:127396051C>A	uc003ejt.3	+	7	772	c.684C>A	c.(682-684)atC>atA	p.I228I	ABTB1_uc003ejr.3_Silent_p.I86I|ABTB1_uc003ejs.3_Silent_p.I203I|ABTB1_uc003eju.3_Silent_p.I86I|ABTB1_uc010hsm.3_5'UTR	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 1 (ABTB1), transcript variant 2, mRNA.	228						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						TGCTGACCATCGAGCCCCCAC	0.682000														10			8		0.000157383	0.000158841	1	1	0
ZNF443	10224	broad.mit.edu	37	19	12541116	12541116	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr19:12541116C>T	uc002mtu.3	-	3	2068	c.1870G>A	c.(1870-1872)Gca>Aca	p.A624T		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	624					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GAAGCAAATGCTTTCCCACAT	0.408000														63			45		0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62582269	62582269	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:62582269T>C	uc001dab.3	+	35	4835	c.4721T>C	c.(4720-4722)tTg>tCg	p.L1574S	INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Missense_Mutation_p.L388S|INADL_uc009wag.3_Missense_Mutation_p.L358S	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1574	PDZ 9.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GATGGGAGATTGATTCAGGGA	0.493000														24			19		0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86199543	86199543	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr12:86199543T>C	uc001taf.1	-	1	584	c.245A>G	c.(244-246)aAg>aGg	p.K82R		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	82	Ras-associating.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCTCTCCACTTCTCTATGAT	0.473000														149			48		0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135891507	135891507	+	Missense_Mutation	SNP	A	G	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr2:135891507A>G	uc010fnf.3	+	14	1446	c.1403A>G	c.(1402-1404)aAt>aGt	p.N468S	RAB3GAP1_uc002tuj.3_Missense_Mutation_p.N468S|RAB3GAP1_uc010fng.3_Missense_Mutation_p.N293S|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	468						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TGTATGATCAATTTTTACCAT	0.383000														70			39		0	0	1	0	0
RCHY1	25898	broad.mit.edu	37	4	76415883	76415883	+	Missense_Mutation	SNP	A	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr4:76415883A>C	uc003hik.3	-	7	709	c.565T>G	c.(565-567)Tct>Gct	p.S189A	RCHY1_uc010iio.3_Missense_Mutation_p.S85A|RCHY1_uc003hij.3_Missense_Mutation_p.L188R|RCHY1_uc021xpe.1_Non-coding_Transcript|RCHY1_uc010iiq.3_Non-coding_Transcript|RCHY1_uc003hil.3_Missense_Mutation_p.S180A|RCHY1_uc010iip.3_Intron|RCHY1_uc010iir.3_Missense_Mutation_p.S149A	NM_015436	NP_056251	Q96PM5	ZN363_HUMAN	Homo sapiens ring finger and CHY zinc finger domain containing 1 (RCHY1), transcript variant 1, mRNA.	189					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCTAAAGCAGAGTGCATACAT	0.373000														47			24		0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157078648	157078648	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr5:157078648C>T	uc003lxb.1	-	0	781	c.439G>A	c.(439-441)Gat>Aat	p.D147N	SOX30_uc003lxc.1_Missense_Mutation_p.D147N|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	147					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACTGACTGATCCAGGCTGGGC	0.687000														25			18		0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11135092	11135092	+	Missense_Mutation	SNP	A	G	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr19:11135092A>G	uc010dxp.3	+	21	3419	c.3059A>G	c.(3058-3060)gAt>gGt	p.D1020G	SMARCA4_uc010dxo.3_Missense_Mutation_p.D1020G|SMARCA4_uc002mqf.4_Missense_Mutation_p.D1020G|SMARCA4_uc002mqg.1_Missense_Mutation_p.D1020G|SMARCA4_uc010dxq.3_Missense_Mutation_p.D1020G|SMARCA4_uc010dxr.3_Missense_Mutation_p.D1020G|SMARCA4_uc002mqj.4_Missense_Mutation_p.D1020G|SMARCA4_uc010dxs.3_Missense_Mutation_p.D1020G|SMARCA4_uc010dxt.1_Missense_Mutation_p.D240G|SMARCA4_uc002mqh.4_Missense_Mutation_p.D143G|SMARCA4_uc002mqi.1_Missense_Mutation_p.D223G	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1020					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGCTGACTGATGGCTCCGAG	0.632000			"""F, N, Mis"""		NSCLC									33			18		0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32945538	32945538	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr6:32945538T>C	uc010juh.3	+	7	2638	c.1334T>C	c.(1333-1335)gTa>gCa	p.V445A	BRD2_uc003ocn.4_Missense_Mutation_p.V445A|BRD2_uc003oco.3_Non-coding_Transcript|BRD2_uc003ocp.4_Missense_Mutation_p.V325A|BRD2_uc003ocq.4_Missense_Mutation_p.V445A|BRD2_uc021ywf.1_Missense_Mutation_p.V398A	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	445					spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TTGTAGGATGTATTTGAGTTC	0.463000														66			64		0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79254568	79254568	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr15:79254568T>C	uc002beq.3	-	27	4115	c.3740A>G	c.(3739-3741)tAt>tGt	p.Y1247C	RASGRF1_uc002bep.3_Missense_Mutation_p.Y1231C|RASGRF1_uc002beo.3_Missense_Mutation_p.Y463C	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	1249	Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTCCAGTAAATATTGCGTTAC	0.468000														6			5		0	0	1	0	0
PHACTR4	65979	broad.mit.edu	37	1	28785697	28785697	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:28785697T>C	uc001bpy.3	+	1	383	c.148T>C	c.(148-150)Ttt>Ctt	p.F50L	PHACTR4_uc001bpu.3_Missense_Mutation_p.F40L|PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Missense_Mutation_p.F40L|PHACTR4_uc001bpx.3_Missense_Mutation_p.F24L	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	40							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GTTCTCAGGCTTTGGCAAGAT	0.448000														48			22		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81671123	81671123	+	Missense_Mutation	SNP	G	A	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr12:81671123G>A	uc001szo.2	-	27	3444	c.3283C>T	c.(3283-3285)Cgg>Tgg	p.R1095W	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.R994W|PPFIA2_uc021rbh.1_Missense_Mutation_p.R990W|PPFIA2_uc021rbi.1_Missense_Mutation_p.R1089W|PPFIA2_uc021rbj.1_Missense_Mutation_p.R1074W|PPFIA2_uc021rbk.1_Missense_Mutation_p.R1080W|PPFIA2_uc021rbl.1_Missense_Mutation_p.R1095W|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.R631W|PPFIA2_uc021rbf.1_Missense_Mutation_p.R281W	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	994										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CTTGCTTCCCGTCTTCTTTCT	0.274000														6			9		0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6479061	6479061	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr11:6479061C>T	uc001mdh.3	-	4	776	c.380G>A	c.(379-381)tGt>tAt	p.C127Y	TRIM3_uc001mdi.3_Missense_Mutation_p.C127Y|TRIM3_uc010raj.2_Missense_Mutation_p.C8Y|TRIM3_uc009yfd.3_Missense_Mutation_p.C127Y|TRIM3_uc010rak.1_Missense_Mutation_p.C127Y|TRIM3_uc001mdj.2_Missense_Mutation_p.C8Y	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	127					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGGCCTCACAGTAAAACTC	0.612000														65			34		0	0	1	0	0
T-Cell_Receptor_V-alpha_region	0	broad.mit.edu	37	14	22409720	22409720	+	Silent	SNP	G	A	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr14:22409720G>A	uc021rpl.1	+	1	253	c.210G>A	c.(208-210)acG>acA	p.T70T	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc001wck.3_Silent_p.T70T					SubName: Full=V-alpha 22; Flags: Precursor; Fragment;																		TGAAAGCCACGAAGGCTGATG	0.468000														58			39		0	0	1	0	0
TFRC	7037	broad.mit.edu	37	3	195782165	195782165	+	Missense_Mutation	SNP	T	A	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr3:195782165T>A	uc003fvz.4	-	16	1968	c.1685A>T	c.(1684-1686)gAt>gTt	p.D562V	TFRC_uc003fwa.4_Missense_Mutation_p.D562V|TFRC_uc010hzy.3_Missense_Mutation_p.D481V|TFRC_uc011btr.2_Missense_Mutation_p.D280V	NM_003234	NP_003225	P02786	TFR1_HUMAN	Homo sapiens transferrin receptor (p90, CD71) (TFRC), transcript variant 1, mRNA.	562					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		ATAAGGATAATCTGTGTCCTG	0.502000			T	BCL6	NHL									38			5		0	0	1	0	0
RCE1	9986	broad.mit.edu	37	11	66613413	66613413	+	Silent	SNP	A	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr11:66613413A>C	uc001ojk.1	+	7	881	c.837A>C	c.(835-837)ccA>ccC	p.P279P	RCE1_uc001ojl.1_Silent_p.P175P	NM_005133	NP_001027450	Q9Y256	FACE2_HUMAN	Homo sapiens RCE1 homolog, prenyl protein protease (S. cerevisiae) (RCE1), transcript variant 1, mRNA.	279					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TGGAGCACCCACAGAGGCGGC	0.622000														100			62		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8424145	8424145	+	Missense_Mutation	SNP	T	A	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:8424145T>A	uc001ape.3	-	15	2521	c.1711A>T	c.(1711-1713)Agc>Tgc	p.S571C	RERE_uc001apf.3_Missense_Mutation_p.S571C|RERE_uc010nzx.1_Missense_Mutation_p.S303C|RERE_uc001apd.3_Missense_Mutation_p.S17C	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	571					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTCCTCATGCTATGCTTCCCA	0.602000														51			38		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2142548	2142548	+	Silent	SNP	G	A	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr16:2142548G>A	uc002cos.1	-	38	11411	c.11202C>T	c.(11200-11202)taC>taT	p.Y3734Y	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.Y3733Y|MIR1225_uc021tap.1_5'Flank|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	3734					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCCCGTGGACGTAGGGCAGCA	0.672000														41			3		0	0	1	0	0
ALKBH3	221120	broad.mit.edu	37	11	43905565	43905565	+	Silent	SNP	T	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr11:43905565T>C	uc001mxs.2	+	3	659	c.216T>C	c.(214-216)atT>atC	p.I72I	ALKBH3_uc009ykp.2_Non-coding_Transcript|ALKBH3_uc001mxt.2_Non-coding_Transcript	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN	Homo sapiens alkB, alkylation repair homolog 3 (E. coli) (ALKBH3), mRNA.	72					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	DNA-N1-methyladenine dioxygenase activity|L-ascorbic acid binding|damaged DNA binding|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	CACGAGTGATTGAGTAAGTAA	0.433000								Direct reversal of damage						103			69		0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79786783	79786783	+	Silent	SNP	T	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr4:79786783T>C	uc003hlk.3	+	9	1306	c.1140T>C	c.(1138-1140)acT>acC	p.T380T	BMP2K_uc010ijl.1_Non-coding_Transcript|BMP2K_uc003hlj.3_Silent_p.T380T	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	380						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ACTCTGCTACTACTGCCACTC	0.418000														51			38		0	0	1	0	0
SUV39H2	79723	broad.mit.edu	37	10	14939338	14939338	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr10:14939338C>T	uc021png.1	+	2	777	c.671C>T	c.(670-672)aCt>aTt	p.T224I	SUV39H2_uc001ing.3_Intron|SUV39H2_uc001inh.3_Missense_Mutation_p.T164I|SUV39H2_uc001ini.3_Missense_Mutation_p.T164I|SUV39H2_uc021pnh.1_Intron|SUV39H2_uc001inj.3_Missense_Mutation_p.T164I	NM_001193424	NP_078946	Q9H5I1	SUV92_HUMAN	Homo sapiens suppressor of variegation 3-9 homolog 2 (Drosophila) (SUV39H2), transcript variant 1, mRNA.	224	Pre-SET.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						CCACCTGGTACTCCCATCTAT	0.398000														77			44		0	0	1	0	0
KIAA1751	85452	broad.mit.edu	37	1	1887063	1887063	+	Missense_Mutation	SNP	C	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:1887063C>T	uc001aim.1	-	17	2399	c.2243G>A	c.(2242-2244)gGg>gAg	p.G748E	KIAA1751_uc009vkz.1_Intron	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	748										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CCCCTCAGCCCCCTGGAATGC	0.597000														101			36		0	0	1	0	0
C21orf58	54058	broad.mit.edu	37	21	47731374	47731374	+	Missense_Mutation	SNP	C	A	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr21:47731374C>A	uc002zjf.3	-	5	1850	c.717G>T	c.(715-717)aaG>aaT	p.K239N	C21orf58_uc002ziz.3_Missense_Mutation_p.K156N|C21orf58_uc002zja.3_Missense_Mutation_p.K133N|C21orf58_uc002zjc.3_Missense_Mutation_p.K133N|C21orf58_uc011afx.2_Missense_Mutation_p.K133N|C21orf58_uc010gqj.2_Non-coding_Transcript	NM_058180	NP_478060	P58505	CU058_HUMAN	Homo sapiens chromosome 21 open reading frame 58 (C21orf58), mRNA.	239										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		ACTTACCTTCCTTAATACTTC	0.488000														10			8		5.4927e-09	5.70195e-09	1	1	0
ZNF557	79230	broad.mit.edu	37	19	7083599	7083599	+	Silent	SNP	T	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr19:7083599T>C	uc002mga.3	+	7	1622	c.1137T>C	c.(1135-1137)agT>agC	p.S379S	ZNF557_uc002mgb.3_Silent_p.S372S|ZNF557_uc002mgc.3_Silent_p.S379S	NM_024341	NP_077317	Q8N988	ZN557_HUMAN	Homo sapiens zinc finger protein 557 (ZNF557), transcript variant 1, mRNA.	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		ATGAGTGCAGTGATTGTGGAA	0.368000														40			15		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218713668	218713668	+	Silent	SNP	C	G	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr2:218713668C>G	uc002vgt.2	-	16	1595	c.1197G>C	c.(1195-1197)acG>acC	p.T399T	TNS1_uc002vgr.2_Silent_p.T399T|TNS1_uc002vgs.2_Silent_p.T399T|TNS1_uc010zjv.1_Silent_p.T399T|TNS1_uc010fvj.1_Silent_p.T467T|TNS1_uc010fvk.1_Silent_p.T524T|TNS1_uc010fvi.1_Silent_p.T86T	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	399						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCACAGAAAGCGTGTGTTCCA	0.612000														118			81		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135156906	135156906	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr9:135156906T>C	uc004cbk.3	-	19	6785	c.6602A>G	c.(6601-6603)aAg>aGg	p.K2201R	SETX_uc004cbj.3_Missense_Mutation_p.K1820R|SETX_uc010mzt.3_Missense_Mutation_p.K1820R	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	2201					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TAGGATGAGCTTATTGCAGCG	0.418000														54			37		0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	155002634	155002634	+	Missense_Mutation	SNP	G	A	A	rs138589439	byFrequency	TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:155002634G>A	uc001fgm.3	-	6	1183	c.1103C>T	c.(1102-1104)gCt>gTt	p.A368V	DCST2_uc009wpb.3_Non-coding_Transcript	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	368						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGAGCGCACAGCCTCCATGCG	0.597000														83			4		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93969151	93969151	+	Missense_Mutation	SNP	C	A	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr6:93969151C>A	uc003poe.3	-	9	2086	c.1845G>T	c.(1843-1845)gaG>gaT	p.E615D	EPHA7_uc003pof.3_Missense_Mutation_p.E610D|EPHA7_uc011eac.2_Missense_Mutation_p.E611D	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	615						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TATTTGGGTCCTCATAGGTTT	0.428000														83			64		2.02796e-37	2.37686e-37	1	1	0
CUL2	8453	broad.mit.edu	37	10	35324145	35324145	+	Silent	SNP	G	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr10:35324145G>T	uc010qer.2	-	9	1118	c.1014C>A	c.(1012-1014)atC>atA	p.I338I	CUL2_uc021ppa.1_Silent_p.I332I|CUL2_uc009xma.3_Silent_p.I188I|CUL2_uc001ixv.3_Silent_p.I319I|CUL2_uc001ixw.3_Silent_p.I319I|CUL2_uc010qes.2_Silent_p.I256I	NM_001198778	NP_001185707	Q13617	CUL2_HUMAN	Homo sapiens cullin 2 (CUL2), transcript variant 1, mRNA.	319					G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CCTCATCATGGATGTGGTTTT	0.473000														35			21		1.00905e-13	1.09986e-13	1	1	0
PHLDB1	23187	broad.mit.edu	37	11	118513026	118513026	+	Missense_Mutation	SNP	A	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr11:118513026A>T	uc001ptr.2	+	13	3144	c.2791A>T	c.(2791-2793)Atg>Ttg	p.M931L	PHLDB1_uc001pts.3_Missense_Mutation_p.M931L|PHLDB1_uc001ptt.3_Intron|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Missense_Mutation_p.M731L|PHLDB1_uc001ptw.2_Intron|PHLDB1_uc009zai.2_Intron|PHLDB1_uc001ptx.2_Intron|PHLDB1_uc010ryi.1_Missense_Mutation_p.M74L|PHLDB1_uc010ryj.1_Missense_Mutation_p.M69L	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	931										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCAGGAGCTGATGGCCGGGCT	0.642000														80			43		0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65684505	65684505	+	Nonsense_Mutation	SNP	T	A	A			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr15:65684505T>A	uc002aou.1	-	10	2299	c.2089A>T	c.(2089-2091)Aag>Tag	p.K697*	IGDCC4_uc002aot.1_Nonsense_Mutation_p.K285*	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	697	Fibronectin type-III 3.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TTCACTTTCTTCTTGAGCCGG	0.632000														62			40		0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124404923	124404923	+	Missense_Mutation	SNP	G	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr7:124404923G>C	uc003vli.3	-	0	759	c.108C>G	c.(106-108)aaC>aaG	p.N36K		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	36						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GACAAGTTTCGTTTCTGGACG	0.652000														23			53		0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206651658	206651658	+	Missense_Mutation	SNP	A	G	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:206651658A>G	uc001hdz.2	+	8	1546	c.968A>G	c.(967-969)cAc>cGc	p.H323R	IKBKE_uc001hea.2_Missense_Mutation_p.H238R|IKBKE_uc009xbv.2_Missense_Mutation_p.H323R	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	323					DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GTCCTGCACCACATCTATATC	0.572000														139			54		0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117131	46117131	+	Silent	SNP	C	T	T			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr21:46117131C>T	uc002zfw.1	+	0	45	c.15C>T	c.(13-15)tcC>tcT	p.S5S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.	5						keratin filament				large_intestine(1)|lung(8)	9						CCGTCTGCTCCAGCGACCTGA	0.632000														97			57		0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210267875	210267875	+	Silent	SNP	T	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:210267875T>C	uc001hhs.4	+	5	844	c.786T>C	c.(784-786)agT>agC	p.S262S	SYT14_uc001hht.4_Silent_p.S217S|SYT14_uc010psn.2_Silent_p.S262S|SYT14_uc001hhu.4_Non-coding_Transcript|SYT14_uc010pso.2_Silent_p.S179S|SYT14_uc009xcv.3_Silent_p.S217S	NM_001146261	NP_001139733	Q8NB59	SYT14_HUMAN	Homo sapiens synaptotagmin XIV (SYT14), transcript variant 1, mRNA.	217						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAATAGAAAGTTTTCATAATA	0.393000														38			22		0	0	1	0	0
MMP24	10893	broad.mit.edu	37	20	33851627	33851627	+	Missense_Mutation	SNP	T	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr20:33851627T>C	uc002xbu.2	+	4	854	c.851T>C	c.(850-852)cTg>cCg	p.L284P	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	284					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GTGCATGAGCTGGGCCACGCG	0.622000														10			9		0	0	1	0	0
HMGCL	3155	broad.mit.edu	37	1	24147039	24147039	+	Missense_Mutation	SNP	A	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr1:24147039A>C	uc001bib.3	-	1	149	c.105T>G	c.(103-105)atT>atG	p.I35M	HMGCL_uc010oec.2_Missense_Mutation_p.I35M|HMGCL_uc001bic.3_Missense_Mutation_p.I10M|HMGCL_uc009vqs.1_Missense_Mutation_p.I35M|HMGCL_uc021oii.1_5'Flank	NM_000191	NP_000182	P35914	HMGCL_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMGCL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	35					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		CAACTTCCACAATTTTCACCC	0.403000														75			43		0	0	1	0	0
IL36RN	26525	broad.mit.edu	37	2	113820191	113820191	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr2:113820191delG	uc002tis.3	+	4	538	c.405delG	c.(403-405)cagfs	p.Q135fs	IL36RN_uc002tit.3_Frame_Shift_Del_p.Q135fs	NM_173170	NP_775262	Q9UBH0	I36RA_HUMAN	Homo sapiens interleukin 36 receptor antagonist (IL36RN), transcript variant 2, mRNA.	135						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GACTCACCCAGCTTCCCGAGA	0.632													---	53	---	---	18	---					
ADTRP	84830	broad.mit.edu	37	6	11723657	11723657	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr6:11723657delC	uc011dip.2	-	5	925	c.637delG	c.(637-639)gctfs	p.A213fs	ADTRP_uc003naa.3_Non-coding_Transcript|ADTRP_uc003nab.3_Frame_Shift_Del_p.A195fs	NM_001143948	NP_001137420	Q96IZ2	CF105_HUMAN	Homo sapiens chromosome 6 open reading frame 105 (C6orf105), transcript variant 1, mRNA.	195						integral to membrane											GAGAAGAAAGCTGCTAGACCC	0.483													---	172	---	---	92	---					
AIM1	202	broad.mit.edu	37	6	106967843	106967843	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr6:106967843delT	uc003prh.3	+	1	2448	c.1536delT	c.(1534-1536)aatfs	p.N512fs		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	512							sugar binding	p.N511K(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GTCAGAACAATGAGAAAATGC	0.453													---	90	---	---	60	---					
SOBP	55084	broad.mit.edu	37	6	107827597	107827597	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr6:107827597delT	uc003prx.3	+	2	891	c.387delT	c.(385-387)cctfs	p.P129fs	SOBP_uc003prw.1_Frame_Shift_Del_p.P129fs	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA.	129							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TTATTGTACCTTTAATTCCAC	0.423													---	202	---	---	100	---					
SRRT	51593	broad.mit.edu	37	7	100485469	100485473	+	Frame_Shift_Del	DEL	GCCCC	-	-			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr7:100485469_100485473delGCCCC	uc003uwy.2	+	16	2582_2586	c.2315_2319delGCCCC	c.(2314-2319)ggccccfs	p.G772fs	SRRT_uc010lhl.1_Frame_Shift_Del_p.G771fs|SRRT_uc003uxa.2_Frame_Shift_Del_p.G771fs|SRRT_uc003uwz.2_Frame_Shift_Del_p.G772fs	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	772	Pro-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CAGCCACCTGGCCCCGCCCAGAGTA	0.512													---	208	---	---	18	---					
SSPO	23145	broad.mit.edu	37	7	149518533	149518533	+	Frame_Shift_Del	DEL	C	-	-	rs11353848		TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr7:149518533delC	uc010lpk.3	+	87	12593	c.12593delC	c.(12592-12594)tccfs	p.S4198fs	SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4201	TSP type-1 19.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GAGGAGCAGTCCCAGAGCCAG	0.711													---	6	---	---	3	---					
TCF7L2	6934	broad.mit.edu	37	10	114925317	114925317	+	Frame_Shift_Del	DEL	A	-	-	rs61724286		TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr10:114925317delA	uc021pyi.1	+	14	1953	c.1446delA	c.(1444-1446)agafs	p.R482fs	TCF7L2_uc001lah.3_3'UTR|TCF7L2_uc010qro.2_Frame_Shift_Del_p.E418fs|TCF7L2_uc001lae.4_Frame_Shift_Del_p.R465fs|TCF7L2_uc010qrm.2_Frame_Shift_Del_p.E441fs|TCF7L2_uc010qrn.2_Frame_Shift_Del_p.E384fs|TCF7L2_uc021pyg.1_Frame_Shift_Del_p.R198fs|TCF7L2_uc021pyh.1_Frame_Shift_Del_p.E440fs|TCF7L2_uc021pyj.1_Frame_Shift_Del_p.E458fs|TCF7L2_uc021pyk.1_Frame_Shift_Del_p.R447fs|TCF7L2_uc021pyl.1_Frame_Shift_Del_p.E423fs|TCF7L2_uc010qrp.2_3'UTR|TCF7L2_uc021pym.1_Frame_Shift_Del_p.E414fs|TCF7L2_uc021pyn.1_Frame_Shift_Del_p.R470fs|TCF7L2_uc021pyo.1_Frame_Shift_Del_p.E446fs|TCF7L2_uc021pyp.1_Frame_Shift_Del_p.E437fs|TCF7L2_uc010qrq.2_3'UTR|TCF7L2_uc001lac.4_Frame_Shift_Del_p.R459fs|TCF7L2_uc010qrk.2_Frame_Shift_Del_p.E435fs|TCF7L2_uc001lad.4_Frame_Shift_Del_p.E431fs|TCF7L2_uc001lag.4_Frame_Shift_Del_p.E465fs|TCF7L2_uc001laf.4_Frame_Shift_Del_p.R442fs|TCF7L2_uc010qrl.2_Frame_Shift_Del_p.R442fs|TCF7L2_uc010qrr.2_Frame_Shift_Del_p.R397fs|TCF7L2_uc010qrs.2_Frame_Shift_Del_p.R353fs|TCF7L2_uc010qrt.2_Frame_Shift_Del_p.R353fs|TCF7L2_uc010qru.2_Frame_Shift_Del_p.E357fs|TCF7L2_uc010qrv.2_3'UTR|TCF7L2_uc010qrw.2_3'UTR|TCF7L2_uc010qrx.2_3'UTR	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	482	Promoter-specific activation domain.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TTTCTAGGAGAAAAAAAAAGT	0.522			T	VTI1A	colorectal								---	251	---	---	7	---					
PC	5091	broad.mit.edu	37	11	66617140	66617141	+	Frame_Shift_Ins	INS	-	G	G			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr11:66617140_66617141insG	uc001ojn.1	-	18	3137_3138	c.3088_3089insC	c.(3088-3090)ctgfs	p.L1030fs	PC_uc001ojo.1_Frame_Shift_Ins_p.L1030fs|PC_uc001ojp.1_Frame_Shift_Ins_p.L1030fs	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	1030					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CAGGCTATCCAGGGGGCCAAAG	0.604													---	59	---	---	18	---					
LRFN4	78999	broad.mit.edu	37	11	66625888	66625889	+	Frame_Shift_Ins	INS	-	C	C			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr11:66625888_66625889insC	uc001ojr.3	+	0	1013_1014	c.673_674insC	c.(673-675)gccfs	p.A225fs	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_Frame_Shift_Ins_p.A225fs	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 4 (LRFN4), mRNA.	225						integral to membrane				breast(1)|lung(1)|prostate(1)	3						GGCCTCTCCCGCCCCCCTGGTG	0.698													---	5	---	---	3	---					
ATP2A2	488	broad.mit.edu	37	12	110765478	110765478	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr12:110765478delC	uc001tqk.4	+	7	1314	c.751delC	c.(751-753)caafs	p.Q251fs	ATP2A2_uc001tql.4_Frame_Shift_Del_p.Q251fs|ATP2A2_uc021rdt.1_Frame_Shift_Del_p.Q99fs	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	251					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						ACCCCTTCAGCAAAAACTAGA	0.453													---	260	---	---	90	---					
IL32	9235	broad.mit.edu	37	16	3119297	3119298	+	Frame_Shift_Ins	INS	-	G	G	rs144971189	by1000genomes	TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr16:3119297_3119298insG	uc002ctq.3	+	5	741_742	c.646_647insG	c.(646-648)cggfs	p.R216fs	IL32_uc002ctn.3_Frame_Shift_Ins_p.R170fs|IL32_uc002ctk.3_Frame_Shift_Ins_p.R113fs|IL32_uc002cto.3_Frame_Shift_Ins_p.R216fs|IL32_uc010uwp.2_Frame_Shift_Ins_p.R150fs|IL32_uc010btb.3_Frame_Shift_Ins_p.R160fs|IL32_uc002ctl.3_Frame_Shift_Ins_p.R170fs|IL32_uc002ctm.3_Frame_Shift_Ins_p.R170fs|IL32_uc002ctp.3_Frame_Shift_Ins_p.R150fs|IL32_uc002ctr.3_Frame_Shift_Ins_p.R150fs|IL32_uc002ctt.3_Frame_Shift_Ins_p.R170fs|IL32_uc010uwr.2_Frame_Shift_Ins_p.R130fs|IL32_uc002ctu.3_Frame_Shift_Ins_p.R161fs|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	216					cell adhesion|defense response|immune response	extracellular space	cytokine activity	p.D172fs*12(3)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CGGAGCCCCACGGGGGGACAAG	0.579													---	209	---	---	8	---					
ZNF814	730051	broad.mit.edu	37	19	58386399	58386399	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr19:58386399delT	uc002qqo.2	-	2	631	c.359delA	c.(358-360)cacfs	p.H120fs	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	120					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CTCACACCTGTGCAGTTTCTG	0.502													---	18	---	---	13	---					
SGK2	10110	broad.mit.edu	37	20	42203603	42203603	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr20:42203603delT	uc002xkv.3	+	8	1051	c.832delT	c.(832-834)tggfs	p.W278fs	SGK2_uc002xkr.3_Frame_Shift_Del_p.W218fs|SGK2_uc010ggm.3_Frame_Shift_Del_p.W218fs|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Frame_Shift_Del_p.W218fs	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	278	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGTGGACTGGTGGTGCTTGGG	0.512													---	27	---	---	21	---					
RFPL3	10738	broad.mit.edu	37	22	32754385	32754386	+	Frame_Shift_Del	DEL	GC	-	-	rs9621427	byFrequency	TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr22:32754385_32754386delGC	uc003amj.3	+	0	532_533	c.327_328delGC	c.(325-330)aagctgfs	p.K109fs	RFPL3_uc010gwn.3_Frame_Shift_Del_p.K80fs	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	109	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TGGAGCCCAAGCTGAAGAAGAT	0.500													---	113	---	---	72	---					
EP300	2033	broad.mit.edu	37	22	41574164	41574176	+	Frame_Shift_Del	DEL	CACAGCAGCAACT	-	-			TCGA-DW-7840-01A-11D-2136-08	TCGA-DW-7840-10A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9967ba89-7c82-4192-b2fa-ff7dfd8e1d38	0f3c3813-e814-4e7f-9a99-c3c2abc1d0bd	g.chr22:41574164_41574176delCACAGCAGCAACT	uc003azl.4	+	30	6844_6856	c.6449_6461delCACAGCAGCAACT	c.(6448-6462)ccacagcagcaactcfs	p.P2150fs		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	2150	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAGCAGCAACCACAGCAGCAACTCCAGCCACCC	0.582			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				---	66	---	---	42	---					
