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
MBD5	55777	broad.mit.edu	37	2	149248040	149248040	+	Silent	SNP	A	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr2:149248040A>C	uc002twm.4	+	11	5137	c.4140A>C	c.(4138-4140)ccA>ccC	p.P1380P	MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Silent_p.P638P|MBD5_uc002twp.3_Silent_p.P430P	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1380						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATTATAGACCAAGGACGTTCA	0.453000														55			45		0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46317875	46317875	+	Missense_Mutation	SNP	G	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr19:46317875G>C	uc002pdm.3	-	0	731	c.560C>G	c.(559-561)gCc>gGc	p.A187G		NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	187						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						AGGCACCTGGGCACTGTAGTG	0.612000														38			23		0	0	1	0	0
ZFY	7544	broad.mit.edu	37	Y	2843189	2843189	+	Missense_Mutation	SNP	G	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chrY:2843189G>C	uc004fqj.3	+	3	1009	c.688G>C	c.(688-690)Gca>Cca	p.A230P	ZFY_uc010nwd.1_Missense_Mutation_p.A230P|ZFY_uc011nan.2_Missense_Mutation_p.A39P|ZFY_uc010nwe.3_Missense_Mutation_p.A204P	NM_003411	NP_003402	P08048	ZFY_HUMAN	Homo sapiens zinc finger protein, Y-linked (ZFY), transcript variant 1, mRNA.	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						GACCATCGATGCAGAATCAGA	0.398000														9			2		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36486249	36486249	+	Missense_Mutation	SNP	A	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr17:36486249A>C	uc002hpz.3	-	10	3224	c.3203T>G	c.(3202-3204)aTc>aGc	p.I1068S		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1068						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTTAGGGAAGATCTTGGGCCT	0.562000														72			26		0	0	1	0	0
PAX3	5077	broad.mit.edu	37	2	223066673	223066673	+	Silent	SNP	C	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr2:223066673C>T	uc010fwo.3	-	7	1791	c.1410G>A	c.(1408-1410)caG>caA	p.Q470Q	PAX3_uc002vmt.2_Silent_p.Q470Q|PAX3_uc002vmy.2_Silent_p.Q469Q|PAX3_uc002vmv.2_Silent_p.Q470Q|PAX3_uc002vmw.2_Intron|PAX3_uc002vmx.2_Intron	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	470					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTTGTCCATACTGCCCATATT	0.468000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome							66			6		0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179320371	179320371	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr5:179320371T>A	uc003mlh.3	-	4	709	c.674A>T	c.(673-675)gAg>gTg	p.E225V	TBC1D9B_uc003mli.3_Missense_Mutation_p.E225V|TBC1D9B_uc003mlj.3_Missense_Mutation_p.E225V	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	225						integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGAAGAGCTCCTGGTCGCG	0.607000														36			23		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112668608	112668608	+	Silent	SNP	G	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr12:112668608G>A	uc021reb.1	-	39	6213	c.5817C>T	c.(5815-5817)ccC>ccT	p.P1939P	C12orf51_uc001ttr.1_5'Flank	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CACTGATGAAGGGACGCACAG	0.498000														8			5		0	0	1	0	0
PRR19	284338	broad.mit.edu	37	19	42814766	42814766	+	Silent	SNP	C	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr19:42814766C>T	uc002oti.3	+	2	1323	c.945C>T	c.(943-945)ccC>ccT	p.P315P	PRR19_uc002oth.1_3'UTR|PRR19_uc002otj.3_Silent_p.P315P|TMEM145_uc002otk.1_5'Flank	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	Homo sapiens proline rich 19 (PRR19), mRNA.	315	Pro-rich.									NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				CTTCATCACCCCTGTTGCCCC	0.652000														113			71		0	0	1	0	0
MTMR6	9107	broad.mit.edu	37	13	25823587	25823587	+	Missense_Mutation	SNP	G	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr13:25823587G>C	uc001uqf.4	-	13	1968	c.1649C>G	c.(1648-1650)aCc>aGc	p.T550S	MTMR6_uc001uqe.1_Intron	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	Homo sapiens myotubularin related protein 6 (MTMR6), mRNA.	550						cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		CAATTCCTTGGTGAGGATGCC	0.353000														30			23		0	0	1	0	0
TRMT1L	81627	broad.mit.edu	37	1	185094118	185094118	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr1:185094118T>A	uc001grf.4	-	11	1989	c.1717A>T	c.(1717-1719)Agt>Tgt	p.S573C	TRMT1L_uc010pon.2_Missense_Mutation_p.S417C	NM_030934	NP_001189352	Q7Z2T5	TRM1L_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1-like (TRMT1L), transcript variant 1, mRNA.	573						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						GAAAACTGACTTTGAGGCGTA	0.358000														59			35		0	0	1	0	0
ABR	29	broad.mit.edu	37	17	916353	916353	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr17:916353T>C	uc002fsd.3	-	16	1953	c.1843A>G	c.(1843-1845)Atg>Gtg	p.M615V	ABR_uc002fse.3_Missense_Mutation_p.M569V|ABR_uc010vqf.2_Missense_Mutation_p.M66V|ABR_uc010vqg.2_Missense_Mutation_p.M397V|ABR_uc002fsg.3_Missense_Mutation_p.M578V|ABR_uc002fsh.1_Intron|ABR_uc002fsf.3_5'Flank	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	615					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		ACCCCGTTCATCTCAATCACG	0.632000														78			34		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6662595	6662595	+	Missense_Mutation	SNP	C	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr11:6662595C>G	uc001mem.1	-	1	651	c.250G>C	c.(250-252)Gag>Cag	p.E84Q		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	84	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGCTGCCCTCTTGGGCAGAG	0.627000														25			16		0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885553	180885553	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr1:180885553C>T	uc001gok.2	+	1	381	c.314C>T	c.(313-315)tCt>tTt	p.S105F		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	105										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGTCCCTGCTCTGCTTCCCAA	0.587000														52			39		0	0	1	0	0
TMEM139	135932	broad.mit.edu	37	7	142983611	142983611	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr7:142983611T>C	uc003wcl.3	+	4	594	c.340T>C	c.(340-342)Tac>Cac	p.Y114H	CASP2_uc003wco.3_5'Flank|CASP2_uc003wcp.3_5'Flank|CASP2_uc011kta.2_5'Flank|TMEM139_uc022aoc.1_Missense_Mutation_p.Y114H|TMEM139_uc010lov.3_Missense_Mutation_p.Y114H|TMEM139_uc003wck.4_Missense_Mutation_p.Y114H|TMEM139_uc003wcn.3_5'UTR|TMEM139_uc022aod.1_5'UTR|TMEM139_uc003wcm.3_Missense_Mutation_p.Y114H	NM_001242774	NP_001229703	Q8IV31	TM139_HUMAN	Homo sapiens transmembrane protein 139 (TMEM139), transcript variant 3, mRNA.	114						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					ACCACCCCCCTACAGCACTGT	0.577000														88			41		0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35532631	35532631	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr20:35532631T>C	uc002xgh.2	-	12	1632	c.1432A>G	c.(1432-1434)Aaa>Gaa	p.K478E	SAMHD1_uc010gft.2_Non-coding_Transcript	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	478					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GCAACCTCTTTTGGAAGAGAT	0.388000														72			101		0	0	1	0	0
CA8	767	broad.mit.edu	37	8	61192348	61192348	+	Silent	SNP	C	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr8:61192348C>T	uc003xtz.1	-	1	440	c.192G>A	c.(190-192)tcG>tcA	p.S64S	CA8_uc003xua.1_Silent_p.S64S|CA8_uc003xub.3_Silent_p.S64S	NM_004056	NP_004047	P35219	CAH8_HUMAN	Homo sapiens carbonic anhydrase VIII (CA8), mRNA.	64					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				CATCCAACAGCGAGGGGTCAT	0.473000														33			61		0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27888159	27888159	+	Missense_Mutation	SNP	A	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr2:27888159A>G	uc002rlk.4	+	1	1300	c.1018A>G	c.(1018-1020)Atg>Gtg	p.M340V	SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein (SLC4A1AP), mRNA.	340						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					CACCTGGGGAATGGGTAAGAA	0.388000														55			49		0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98652854	98652854	+	Missense_Mutation	SNP	G	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr13:98652854G>A	uc001vne.3	+	12	1297	c.1117G>A	c.(1117-1119)Gtt>Att	p.V373I	IPO5_uc001vnf.1_Missense_Mutation_p.V355I|IPO5_uc010tik.1_Missense_Mutation_p.V230I|IPO5_uc010til.1_Missense_Mutation_p.V295I|IPO5_uc001vng.1_5'Flank	NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	355	Ran-GTP binding (By similarity).				NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TGGAAAGCTCGTTCTGCCGAT	0.418000														26			29		0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761636	55761636	+	Missense_Mutation	SNP	A	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr11:55761636A>C	uc010riv.2	-	0	466	c.466T>G	c.(466-468)Ttc>Gtc	p.F156V		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TTGACCATGAAGTTCAGCAAC	0.507000														57			28		0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99037979	99037979	+	Missense_Mutation	SNP	A	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr13:99037979A>C	uc001vnh.3	+	7	909	c.670A>C	c.(670-672)Atg>Ctg	p.M224L	FARP1_uc001vnj.3_Missense_Mutation_p.M224L	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	224	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCGGCTAGAGATGTATGGAAT	0.488000														60			35		0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9528579	9528579	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr2:9528579T>C	uc002qzh.2	+	21	2627	c.2287T>C	c.(2287-2289)Tac>Cac	p.Y763H	ASAP2_uc002qzi.2_Missense_Mutation_p.Y763H	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	763					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	p.Y763Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GAATGAGACTTACGGAGCCCT	0.597000														25			18		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130292932	130292932	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr3:130292932T>A	uc010htl.3	+	6	3141	c.3110T>A	c.(3109-3111)gTg>gAg	p.V1037E		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1037	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTCAACAGAGTGCGAATAGGA	0.418000														19			18		0	0	1	0	0
LRPAP1	4043	broad.mit.edu	37	4	3519768	3519768	+	Silent	SNP	A	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr4:3519768A>G	uc003ghh.4	-	4	829	c.744T>C	c.(742-744)acT>acC	p.T248T		NM_002337	NP_002328	P30533	AMRP_HUMAN	Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.	248	LDL receptor binding (Potential).				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		CACCAGCCTCAGTGCTGTAGC	0.657000														27			10		0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135644423	135644423	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr6:135644423C>A	uc003qgi.3	-	24	3589	c.3205G>T	c.(3205-3207)Gaa>Taa	p.E1069*	AHI1_uc003qgf.3_Non-coding_Transcript|AHI1_uc003qgg.3_Nonsense_Mutation_p.E519*|AHI1_uc003qgh.3_Nonsense_Mutation_p.E1069*|AHI1_uc003qgj.3_Nonsense_Mutation_p.E1069*|AHI1_uc003qgk.4_Intron	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	1069	SH3.					adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		ATGGTTAGTTCATCTGATCGA	0.438000														14			12		0.00010058	0.000102654	1	1	0
SOX30	11063	broad.mit.edu	37	5	157075894	157075894	+	Missense_Mutation	SNP	A	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr5:157075894A>T	uc003lxb.1	-	1	1320	c.978T>A	c.(976-978)gaT>gaA	p.D326E	SOX30_uc003lxc.1_Missense_Mutation_p.D326E|SOX30_uc011dds.1_Missense_Mutation_p.D21E	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	326					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)			TGAAGGGAGTATCTGGTATGC	0.428000														55			34		0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103563517	103563517	+	Silent	SNP	A	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr10:103563517A>G	uc001ktv.2	-	6	1454	c.1011T>C	c.(1009-1011)aaT>aaC	p.N337N	MGEA5_uc010qqe.1_Silent_p.N337N|MGEA5_uc009xws.2_Silent_p.N337N|MGEA5_uc001ktw.2_Silent_p.N337N|MGEA5_uc009xwt.2_Intron	NM_012215	NP_036347	O60502	NCOAT_HUMAN	Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA.	337					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTCTCACTCCATTCATGTTTG	0.438000														102			9		0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761615	55761615	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr11:55761615C>T	uc010riv.2	-	0	487	c.487G>A	c.(487-489)Gtc>Atc	p.V163I		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AAGCTGCTGACATGGCTTGTG	0.483000														54			40		0	0	1	0	0
KIN	22944	broad.mit.edu	37	10	7829859	7829859	+	Missense_Mutation	SNP	G	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr10:7829859G>C	uc001ijt.3	-	0	132	c.38C>G	c.(37-39)gCc>gGc	p.A13G	KIN_uc010qaz.2_Non-coding_Transcript|KIN_uc010qba.2_5'UTR|ATP5C1_uc010qbb.2_5'Flank|ATP5C1_uc009xiq.1_5'Flank|ATP5C1_uc010qbc.1_5'Flank|ATP5C1_uc001iju.3_5'Flank|ATP5C1_uc001ijv.3_5'Flank	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	13					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						GATCCTGTTGGCGATAGCCTT	0.612000														67			54		0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139251190	139251190	+	Missense_Mutation	SNP	G	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr6:139251190G>C	uc003qii.3	-	8	1760	c.1181C>G	c.(1180-1182)gCt>gGt	p.A394G	REPS1_uc003qig.4_Missense_Mutation_p.A394G|REPS1_uc011edr.2_Missense_Mutation_p.A394G|REPS1_uc003qij.3_Missense_Mutation_p.A394G|REPS1_uc003qik.3_Missense_Mutation_p.A27G	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	394						coated pit|plasma membrane	SH3 domain binding|calcium ion binding	p.P394T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		AGGAGCTTCAGCAGGAGAGCC	0.418000														51			45		0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123848831	123848831	+	Missense_Mutation	SNP	A	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr4:123848831A>G	uc003iez.4	+	1	279	c.206A>G	c.(205-207)cAt>cGt	p.H69R	SPATA5_uc003iey.3_Missense_Mutation_p.H68R	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	Homo sapiens spermatogenesis associated 5 (SPATA5), mRNA.	69					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TCCCTTATTCATCTTGGACTC	0.338000														58			51		0	0	1	0	0
TMEM245	23731	broad.mit.edu	37	9	111853340	111853340	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr9:111853340G>A	uc004bdt.4	-	4	1044	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*	TMEM245_uc004bds.4_Non-coding_Transcript	NM_032012	NP_114401	Q9H330	CI005_HUMAN	Homo sapiens chromosome 9 open reading frame 5 (C9orf5), mRNA.	338						integral to membrane											TCAGGCCTTCGTCTGCCCAGA	0.502000														60			13		0	0	1	0	0
LOC729513	729513	broad.mit.edu	37	16	70256290	70256290	+	RNA	SNP	T	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr16:70256290T>C	uc002eyl.1	-	1		c.1272A>G								Homo sapiens SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) pseudogene (LOC729513), non-coding RNA.																		TTTCTTTTGATCCTCCAGCAA	0.308000														10			3		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57573720	57573720	+	Missense_Mutation	SNP	G	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr12:57573720G>A	uc001snd.3	+	29	5588	c.5122G>A	c.(5122-5124)Gtc>Atc	p.V1708I		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1708					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCATGGCCTTGTCGTCCACCC	0.622000														64			47		0	0	1	0	0
PPP4C	5531	broad.mit.edu	37	16	30094761	30094761	+	Missense_Mutation	SNP	G	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr16:30094761G>A	uc002dwe.3	+	5	485	c.350G>A	c.(349-351)aGt>aAt	p.S117N	BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.3_Missense_Mutation_p.S117N	NM_002720	NP_002711	P60510	PP4C_HUMAN	Homo sapiens protein phosphatase 4, catalytic subunit (PPP4C), mRNA.	117					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	NF-kappaB-inducing kinase activity|metal ion binding|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						AACCATGAGAGTCGCCAGATC	0.592000														59			88		0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	80040402	80040402	+	Silent	SNP	G	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr5:80040402G>A	uc003kgz.3	+	11	1984	c.1731G>A	c.(1729-1731)aaG>aaA	p.K577K		NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	577					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding	p.K577T(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GGAAGTTAAAGAAGTGGGTGA	0.338000								Mismatch excision repair (MMR)						28			20		0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35085735	35085735	+	Silent	SNP	G	A	A	rs149432225		TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr15:35085735G>A	uc001ziu.1	-	2	408	c.165C>T	c.(163-165)taC>taT	p.Y55Y	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	55					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CATCACCTACGTAGGAGTCCT	0.473000														33			31		0	0	1	0	0
KLF6	1316	broad.mit.edu	37	10	3822362	3822362	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr10:3822362C>T	uc001iha.3	-	2	1003	c.736G>A	c.(736-738)Gag>Aag	p.E246K	KLF6_uc010qaj.2_Intron|KLF6_uc010qak.2_Non-coding_Transcript|KLF6_uc010qal.2_Missense_Mutation_p.E204K	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA.	246					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		CTGGTTAACTCATCACTTCTT	0.542000														47			19		0	0	1	0	0
MLST8	64223	broad.mit.edu	37	16	2258565	2258565	+	Silent	SNP	C	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr16:2258565C>T	uc002coy.3	+	7	1204	c.813C>T	c.(811-813)ggC>ggT	p.G271G	MLST8_uc002cpc.3_Silent_p.G271G|MLST8_uc010uvx.2_Silent_p.G205G|MLST8_uc002cpd.3_Silent_p.G205G|MLST8_uc002cpb.3_Silent_p.G270G|MLST8_uc002coz.3_Silent_p.G271G|MLST8_uc002cpe.3_Silent_p.G271G|MLST8_uc002cpf.3_Silent_p.G271G|MLST8_uc002cph.3_Non-coding_Transcript	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	Homo sapiens MTOR associated protein, LST8 homolog (S. cerevisiae) (MLST8), transcript variant 1, mRNA.	271					T cell costimulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						CCTCCCGCGGCTGGATGTGGG	0.677000														129			41		0	0	1	0	0
CTNS	1497	broad.mit.edu	37	17	3550808	3550808	+	Silent	SNP	C	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr17:3550808C>T	uc002fwa.3	+	3	602	c.132C>T	c.(130-132)ctC>ctT	p.L44L	CTNS_uc002fwb.3_Silent_p.L44L|CTNS_uc010ckj.3_Silent_p.L44L|CTNS_uc010vrv.2_Intron|CTNS_uc010vrw.2_Intron	NM_001031681	NP_001026851	O60931	CTNS_HUMAN	Homo sapiens cystinosin, lysosomal cystine transporter (CTNS), transcript variant 1, mRNA.	44					ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	ACGTCAGCCTCACCCTGCGGT	0.602000														69			13		0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129817185	129817185	+	Silent	SNP	G	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr11:129817185G>A	uc001qfm.3	-	4	607	c.375C>T	c.(373-375)acC>acT	p.T125T	PRDM10_uc001qfj.3_Silent_p.T39T|PRDM10_uc001qfk.3_Silent_p.T39T|PRDM10_uc001qfl.3_Silent_p.T39T|PRDM10_uc010sbx.2_Silent_p.T39T|PRDM10_uc001qfn.3_Silent_p.T125T|PRDM10_uc009zct.1_Silent_p.T157T	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGCCTAGAGGGGTCTGCAGAG	0.547000														43			27		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr3:195505836G>C	uc021xjp.1	-	1	12771	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000														5			2		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47369741	47369741	+	Missense_Mutation	SNP	G	A	A	rs139632666	by1000genomes	TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr18:47369741G>A	uc002leb.2	-	33	4769	c.4481C>T	c.(4480-4482)tCg>tTg	p.S1494L	MYO5B_uc002ldz.3_Missense_Mutation_p.S64L|MYO5B_uc002lea.2_Missense_Mutation_p.S609L	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1494					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CACTGTGCCCGACAGCATCTG	0.557000														67			5		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76903188	76903188	+	Silent	SNP	C	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr11:76903188C>T	uc001oyb.2	+	30	4289	c.4017C>T	c.(4015-4017)aaC>aaT	p.N1339N	MYO7A_uc010rsm.1_Silent_p.N1328N|MYO7A_uc001oyc.2_Silent_p.N1339N|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.N550N	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1339	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGGAGCGCAACGCCCCCTGGA	0.662000											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			32		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33961646	33961646	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr15:33961646T>C	uc001zhi.3	+	36	5781	c.5711T>C	c.(5710-5712)cTc>cCc	p.L1904P	RYR3_uc010bar.3_Missense_Mutation_p.L1904P	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1904	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGGACCTTCTCCTTCACTGT	0.463000														29			20		0	0	1	0	0
TRIM2	23321	broad.mit.edu	37	4	154215496	154215496	+	Missense_Mutation	SNP	A	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr4:154215496A>T	uc003inh.2	+	4	730	c.645A>T	c.(643-645)gaA>gaT	p.E215D	TRIM2_uc003ing.2_Missense_Mutation_p.E188D	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA.	188						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TCATCTCTGAAATCATTCATC	0.413000														42			29		0	0	1	0	0
BHMT	635	broad.mit.edu	37	5	78426847	78426847	+	Missense_Mutation	SNP	A	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr5:78426847A>G	uc003kfu.4	+	7	1234	c.1129A>G	c.(1129-1131)Aaa>Gaa	p.K377E	BHMT_uc011cti.2_Missense_Mutation_p.K224E	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA.	377					protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GGGAGTGACCAAAGGAACAGC	0.493000														101			50		0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179193185	179193185	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr5:179193185G>T	uc003mkm.3	+	1	1437	c.1174G>T	c.(1174-1176)Gag>Tag	p.E392*	MAML1_uc003mkn.1_Nonsense_Mutation_p.E392*	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	392					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGGGCCTCAGAGCTGTCCTC	0.657000														68			23		2.32416e-17	2.61468e-17	1	1	0
POLK	51426	broad.mit.edu	37	5	74892358	74892358	+	Missense_Mutation	SNP	G	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr5:74892358G>C	uc003kdw.3	+	12	1936	c.1840G>C	c.(1840-1842)Gag>Cag	p.E614Q	POLK_uc003kdx.3_Non-coding_Transcript|POLK_uc003kdy.3_Non-coding_Transcript|POLK_uc010izq.3_Missense_Mutation_p.E416Q|POLK_uc003kec.3_Missense_Mutation_p.E524Q|POLK_uc010izr.3_Non-coding_Transcript|POLK_uc010izs.3_Non-coding_Transcript|POLK_uc003ked.3_Intron|POLK_uc003kee.3_Intron	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	Homo sapiens polymerase (DNA directed) kappa (POLK), mRNA.	614					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GGAAATATCAGAGAATTCAGA	0.368000								DNA polymerases (catalytic subunits)						81			69		0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88029381	88029381	+	Missense_Mutation	SNP	G	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr4:88029381G>T	uc011ccz.2	+	10	1722	c.1447G>T	c.(1447-1449)Gac>Tac	p.D483Y	AFF1_uc003hqj.4_Missense_Mutation_p.D476Y|AFF1_uc003hqk.4_Missense_Mutation_p.D476Y|AFF1_uc011cda.2_Missense_Mutation_p.D114Y	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	476	Poly-Ser.					nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AAGCACCAGTGACTCAGACAG	0.512000														36			20		3.8784e-16	4.31418e-16	1	1	0
FAT1	2195	broad.mit.edu	37	4	187539116	187539116	+	Missense_Mutation	SNP	A	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr4:187539116A>G	uc003izf.3	-	9	8812	c.8624T>C	c.(8623-8625)cTt>cCt	p.L2875P		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2875	Cadherin 26.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCATGGTCAAGTTCCTTTAA	0.418000										HNSCC(5;0.00058)				37			24		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974224	16974224	+	RNA	SNP	C	G	G	rs148702086	by1000genomes	TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr1:16974224C>G	uc009vow.2	+	4		c.1034C>G			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TTGGTCCCAGCCCCAGAGGGA	0.652000														20			5		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155225827	155225827	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr4:155225827T>C	uc003inw.2	-	16	4234	c.4234A>G	c.(4234-4236)Ata>Gta	p.I1412V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1412	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTACCAATTATGTGATATTCA	0.418000														23			23		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14497016	14497016	+	Missense_Mutation	SNP	C	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr5:14497016C>A	uc003jff.3	+	49	7915	c.7909C>A	c.(7909-7911)Cgt>Agt	p.R2637S	TRIO_uc003jfg.3_Non-coding_Transcript	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2637					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CACAGCACTCCGTTTAAGGAA	0.448000														39			29		5.60225e-13	6.02851e-13	1	1	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83290	83290	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chrGL000219.1:83290C>T	uc022brb.1	-	3	377	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		ATAAAGCAGCCATTTGAGGCC	0.363000														69			5		0	0	1	0	0
HMG20A	10363	broad.mit.edu	37	15	77759508	77759508	+	Silent	SNP	C	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr15:77759508C>A	uc002bcr.3	+	4	510	c.309C>A	c.(307-309)ccC>ccA	p.P103P	HMG20A_uc002bcs.3_Silent_p.P103P	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN	Homo sapiens high mobility group 20A (HMG20A), mRNA.	103					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GCAATGCACCCAAATCCCCCC	0.428000														38			21		1.22574e-08	1.29094e-08	1	1	0
HOXA3	3200	broad.mit.edu	37	7	27147884	27147884	+	Missense_Mutation	SNP	G	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr7:27147884G>A	uc011jzl.2	-	2	1182	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	HOXA3_uc003syk.3_Missense_Mutation_p.R328C	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	328					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GCCGTGTAGCGCTTCTGTGGG	0.726000														11			5		0	0	1	0	0
NHP2	55651	broad.mit.edu	37	5	177580732	177580732	+	Silent	SNP	G	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr5:177580732G>T	uc003mir.2	-	0	230	c.87C>A	c.(85-87)gtC>gtA	p.V29V	NHP2_uc003mis.2_Silent_p.V29V	NM_017838	NP_060308	Q9NX24	NHP2_HUMAN	Homo sapiens NHP2 ribonucleoprotein homolog (yeast) (NHP2), transcript variant 1, mRNA.	29					rRNA pseudouridine synthesis	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			endometrium(1)|kidney(1)|ovary(2)	4						GGTTCTGGTTGACCAGCAGCT	0.662000														18			20		8.28177e-16	9.10995e-16	1	1	0
CELSR3	1951	broad.mit.edu	37	3	48690562	48690562	+	Missense_Mutation	SNP	A	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr3:48690562A>C	uc003cuf.1	-	11	5717	c.5717T>G	c.(5716-5718)cTc>cGc	p.L1906R	CELSR3_uc010hkg.3_5'Flank|CELSR3_uc003cul.3_Missense_Mutation_p.L1836R	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1836	Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCCAGAAGGAGATGGGAAGC	0.622000														32			25		0	0	1	0	0
BC032026	0	broad.mit.edu	37	15	101098922	101098922	+	RNA	SNP	T	C	C	rs9920217	by1000genomes	TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr15:101098922T>C	uc002bwc.1	+	0		c.38T>C								Homo sapiens cDNA clone IMAGE:4822975.																		GGAATGCTCATCAACTTGAGG	0.607000														43			4		0	0	1	0	0
C1orf150	148823	broad.mit.edu	37	1	247737622	247737622	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr1:247737622T>C	uc001idf.3	+	4	493	c.346T>C	c.(346-348)Tct>Cct	p.S116P	C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	116										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TCTTAGGACTTCTGTTAGTAG	0.433000														49			32		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48411809	48411809	+	Silent	SNP	C	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr7:48411809C>A	uc003toq.2	+	32	10872	c.10848C>A	c.(10846-10848)gcC>gcA	p.A3616A	ABCA13_uc010kys.1_Silent_p.A690A|ABCA13_uc003tos.1_Silent_p.A442A	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3616					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATTTCCTGGCCTGGTTCCTGG	0.463000														47			29		4.59853e-10	4.89521e-10	1	1	0
USP39	10713	broad.mit.edu	37	2	85875075	85875075	+	Nonsense_Mutation	SNP	T	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr2:85875075T>G	uc002sqe.3	+	11	1622	c.1586T>G	c.(1585-1587)tTa>tGa	p.L529*	USP39_uc002sqb.3_Nonsense_Mutation_p.L260*|USP39_uc010ysu.2_Nonsense_Mutation_p.L451*|USP39_uc010ysv.2_Nonsense_Mutation_p.L426*|USP39_uc002sqg.3_Nonsense_Mutation_p.L529*|USP39_uc010fgo.3_Missense_Mutation_p.Y484D	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	Homo sapiens ubiquitin specific peptidase 39 (USP39), mRNA.	529					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						TGGTATGAATTACAAGACCTC	0.478000														47			36		0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135447853	135447853	+	Missense_Mutation	SNP	G	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr9:135447853G>A	uc004cbn.3	+	6	967	c.919G>A	c.(919-921)Gtg>Atg	p.V307M	C9orf171_uc004cbo.3_Missense_Mutation_p.V271M	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	307										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						AGAGTGTGCCGTGCGCCAGGG	0.602000														28			24		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39885784	39885784	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr15:39885784T>C	uc001zkh.3	+	18	3361	c.3182T>C	c.(3181-3183)cTt>cCt	p.L1061P	THBS1_uc010bbi.3_Missense_Mutation_p.L533P	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	1061	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TACTCGGGCCTTTCTGTGAAA	0.582000														104			62		0	0	1	0	0
GTPBP4	23560	broad.mit.edu	37	10	1061760	1061760	+	Missense_Mutation	SNP	C	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr10:1061760C>A	uc001ift.3	+	15	1747	c.1676C>A	c.(1675-1677)gCt>gAt	p.A559D	GTPBP4_uc010qad.2_Missense_Mutation_p.A443D|GTPBP4_uc010qae.2_Missense_Mutation_p.A512D	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	559					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GAAGACTCTGCTCCCCCGTCC	0.552000														99			52		1.07234e-20	1.22025e-20	1	1	0
RSC1A1	6248	broad.mit.edu	37	1	15987648	15987648	+	Silent	SNP	T	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr1:15987648T>C	uc010obn.2	+	0	1285	c.1285T>C	c.(1285-1287)Tta>Cta	p.L429L		NM_006511	NP_006502	Q92681	RSCA1_HUMAN	Homo sapiens regulatory solute carrier protein, family 1, member 1 (RSC1A1), mRNA.	429					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	Golgi apparatus|cell junction|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACAGAAAAATTAACAGGTAC	0.433000														37			30		0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110415933	110415933	+	Missense_Mutation	SNP	A	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr4:110415933A>G	uc003hzk.3	+	5	1464	c.1409A>G	c.(1408-1410)tAt>tGt	p.Y470C	SEC24B_uc003hzl.3_Missense_Mutation_p.Y435C|SEC24B_uc011cfp.2_Missense_Mutation_p.Y501C|SEC24B_uc011cfq.2_Missense_Mutation_p.Y470C|SEC24B_uc011cfr.2_Missense_Mutation_p.Y435C	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	470					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAGCCTGGTTATCAGAATGCT	0.473000														75			55		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325186	57325186	+	Missense_Mutation	SNP	A	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr19:57325186A>G	uc002qnu.2	-	6	4975	c.4624T>C	c.(4624-4626)Tgc>Cgc	p.C1542R	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.C1513R|PEG3_uc002qnv.2_Missense_Mutation_p.C1542R|PEG3_uc002qnw.2_Missense_Mutation_p.C1418R|PEG3_uc002qnx.2_Missense_Mutation_p.C1416R|PEG3_uc010etr.2_Missense_Mutation_p.C1542R	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1542					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TAGCCTGAGCACTCCCCAAAG	0.488000														73			28		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1219640	1219640	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr5:1219640T>C	uc003jbw.4	+	9	1455	c.1399T>C	c.(1399-1401)Ttc>Ctc	p.F467L		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	467					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCTGGGGACATTCCTCATTGG	0.627000														27			20		0	0	1	0	0
C15orf42	90381	broad.mit.edu	37	15	90118913	90118913	+	Silent	SNP	C	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr15:90118913C>A	uc002boe.3	+	0	96	c.96C>A	c.(94-96)acC>acA	p.T32T	C15orf42_uc021sug.1_Silent_p.T32T	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	32					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GCCTCCTCACCTATCTGAGTT	0.687000														9			4		0.00909568	0.00909568	1	1	0
TBC1D19	55296	broad.mit.edu	37	4	26737100	26737100	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr4:26737100T>A	uc003gsf.4	+	15	1378	c.1108T>A	c.(1108-1110)Tca>Aca	p.S370T	TBC1D19_uc010iew.3_Missense_Mutation_p.S370T|TBC1D19_uc011bxu.2_Missense_Mutation_p.S305T	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	Homo sapiens TBC1 domain family, member 19 (TBC1D19), mRNA.	370	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				TCATGGATTTTCAATGTATGG	0.264000														11			4		0	0	1	0	0
TBC1D7	51256	broad.mit.edu	37	6	13307966	13307966	+	Missense_Mutation	SNP	A	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr6:13307966A>C	uc003naj.3	-	5	639	c.531T>G	c.(529-531)ttT>ttG	p.F177L	TBC1D7_uc011dis.2_Intron|TBC1D7_uc003nal.3_Missense_Mutation_p.F177L|TBC1D7_uc003nan.3_Missense_Mutation_p.F177L|TBC1D7_uc003nam.3_Missense_Mutation_p.F177L|TBC1D7_uc003nao.3_Missense_Mutation_p.F150L|TBC1D7_uc010jpd.3_Missense_Mutation_p.F131L	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	Homo sapiens TBC1 domain family, member 7 (TBC1D7), transcript variant 1, mRNA.	177	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			AGTATTGTTCAAACGCTTTTG	0.398000														52			21		0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54080607	54080607	+	Silent	SNP	A	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr2:54080607A>G	uc021vhn.1	-	0	1287	c.1287T>C	c.(1285-1287)tcT>tcC	p.S429S	GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_Silent_p.S429S	NM_006794	NP_006785	O95800	GPR75_HUMAN	Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.	429						integral to plasma membrane	G-protein coupled receptor activity	p.S429F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACATGTAGGCAGAGTTTGTTT	0.448000														131			46		0	0	1	0	0
IL29	282618	broad.mit.edu	37	19	39787490	39787490	+	Missense_Mutation	SNP	T	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr19:39787490T>G	uc002okv.3	+	1	314	c.217T>G	c.(217-219)Ttc>Gtc	p.F73V		NM_172140	NP_742152	Q8IU54	IL29_HUMAN	Homo sapiens interleukin 29 (interferon, lambda 1) (IL29), mRNA.	73					defense response to virus|negative regulation of cell proliferation|negative regulation of interleukin-13 production|negative regulation of interleukin-5 production|negative regulation of memory T cell differentiation|negative regulation of transcription, DNA-dependent|negative regulation of type 2 immune response|positive regulation of MHC class I biosynthetic process|positive regulation of immune response|positive regulation of interferon-gamma production|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of STAT protein	extracellular space|interleukin-28 receptor complex	cytokine activity|interleukin-28 receptor binding			endometrium(2)|lung(2)	4	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CTCTCCTGTCTTCCCCGGGAA	0.572000														24			18		0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139273027	139273027	+	Silent	SNP	C	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr9:139273027C>G	uc004chh.3	-	20	3261	c.3252G>C	c.(3250-3252)ggG>ggC	p.G1084G		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	1084	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CAGGGAGAAGCCCCTGGGCTG	0.687000														10			3		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149248040	149248040	+	Silent	SNP	A	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr2:149248040A>C	uc002twm.4	+	11	5137	c.4140A>C	c.(4138-4140)ccA>ccC	p.P1380P	MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Silent_p.P638P|MBD5_uc002twp.3_Silent_p.P430P	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1380						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATTATAGACCAAGGACGTTCA	0.453000														55			45		0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46317875	46317875	+	Missense_Mutation	SNP	G	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr19:46317875G>C	uc002pdm.3	-	0	731	c.560C>G	c.(559-561)gCc>gGc	p.A187G		NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	187						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						AGGCACCTGGGCACTGTAGTG	0.612000														38			23		0	0	1	0	0
ZFY	7544	broad.mit.edu	37	Y	2843189	2843189	+	Missense_Mutation	SNP	G	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chrY:2843189G>C	uc004fqj.3	+	3	1009	c.688G>C	c.(688-690)Gca>Cca	p.A230P	ZFY_uc010nwd.1_Missense_Mutation_p.A230P|ZFY_uc011nan.2_Missense_Mutation_p.A39P|ZFY_uc010nwe.3_Missense_Mutation_p.A204P	NM_003411	NP_003402	P08048	ZFY_HUMAN	Homo sapiens zinc finger protein, Y-linked (ZFY), transcript variant 1, mRNA.	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						GACCATCGATGCAGAATCAGA	0.398000														9			2		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36486249	36486249	+	Missense_Mutation	SNP	A	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr17:36486249A>C	uc002hpz.3	-	10	3224	c.3203T>G	c.(3202-3204)aTc>aGc	p.I1068S		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1068						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTTAGGGAAGATCTTGGGCCT	0.562000														72			26		0	0	1	0	0
PAX3	5077	broad.mit.edu	37	2	223066673	223066673	+	Silent	SNP	C	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr2:223066673C>T	uc010fwo.3	-	7	1791	c.1410G>A	c.(1408-1410)caG>caA	p.Q470Q	PAX3_uc002vmt.2_Silent_p.Q470Q|PAX3_uc002vmy.2_Silent_p.Q469Q|PAX3_uc002vmv.2_Silent_p.Q470Q|PAX3_uc002vmw.2_Intron|PAX3_uc002vmx.2_Intron	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	470					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTTGTCCATACTGCCCATATT	0.468000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome							66			6		0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179320371	179320371	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr5:179320371T>A	uc003mlh.3	-	4	709	c.674A>T	c.(673-675)gAg>gTg	p.E225V	TBC1D9B_uc003mli.3_Missense_Mutation_p.E225V|TBC1D9B_uc003mlj.3_Missense_Mutation_p.E225V	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	225						integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGAAGAGCTCCTGGTCGCG	0.607000														36			23		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112668608	112668608	+	Silent	SNP	G	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr12:112668608G>A	uc021reb.1	-	39	6213	c.5817C>T	c.(5815-5817)ccC>ccT	p.P1939P	C12orf51_uc001ttr.1_5'Flank	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CACTGATGAAGGGACGCACAG	0.498000														8			5		0	0	1	0	0
PRR19	284338	broad.mit.edu	37	19	42814766	42814766	+	Silent	SNP	C	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr19:42814766C>T	uc002oti.3	+	2	1323	c.945C>T	c.(943-945)ccC>ccT	p.P315P	PRR19_uc002oth.1_3'UTR|PRR19_uc002otj.3_Silent_p.P315P|TMEM145_uc002otk.1_5'Flank	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	Homo sapiens proline rich 19 (PRR19), mRNA.	315	Pro-rich.									NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				CTTCATCACCCCTGTTGCCCC	0.652000														113			71		0	0	1	0	0
MTMR6	9107	broad.mit.edu	37	13	25823587	25823587	+	Missense_Mutation	SNP	G	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr13:25823587G>C	uc001uqf.4	-	13	1968	c.1649C>G	c.(1648-1650)aCc>aGc	p.T550S	MTMR6_uc001uqe.1_Intron	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	Homo sapiens myotubularin related protein 6 (MTMR6), mRNA.	550						cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		CAATTCCTTGGTGAGGATGCC	0.353000														30			23		0	0	1	0	0
TRMT1L	81627	broad.mit.edu	37	1	185094118	185094118	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr1:185094118T>A	uc001grf.4	-	11	1989	c.1717A>T	c.(1717-1719)Agt>Tgt	p.S573C	TRMT1L_uc010pon.2_Missense_Mutation_p.S417C	NM_030934	NP_001189352	Q7Z2T5	TRM1L_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1-like (TRMT1L), transcript variant 1, mRNA.	573						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						GAAAACTGACTTTGAGGCGTA	0.358000														59			35		0	0	1	0	0
ABR	29	broad.mit.edu	37	17	916353	916353	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr17:916353T>C	uc002fsd.3	-	16	1953	c.1843A>G	c.(1843-1845)Atg>Gtg	p.M615V	ABR_uc002fse.3_Missense_Mutation_p.M569V|ABR_uc010vqf.2_Missense_Mutation_p.M66V|ABR_uc010vqg.2_Missense_Mutation_p.M397V|ABR_uc002fsg.3_Missense_Mutation_p.M578V|ABR_uc002fsh.1_Intron|ABR_uc002fsf.3_5'Flank	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	615					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		ACCCCGTTCATCTCAATCACG	0.632000														78			34		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6662595	6662595	+	Missense_Mutation	SNP	C	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr11:6662595C>G	uc001mem.1	-	1	651	c.250G>C	c.(250-252)Gag>Cag	p.E84Q		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	84	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGCTGCCCTCTTGGGCAGAG	0.627000														25			16		0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885553	180885553	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr1:180885553C>T	uc001gok.2	+	1	381	c.314C>T	c.(313-315)tCt>tTt	p.S105F		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	105										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGTCCCTGCTCTGCTTCCCAA	0.587000														52			39		0	0	1	0	0
TMEM139	135932	broad.mit.edu	37	7	142983611	142983611	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr7:142983611T>C	uc003wcl.3	+	4	594	c.340T>C	c.(340-342)Tac>Cac	p.Y114H	CASP2_uc003wco.3_5'Flank|CASP2_uc003wcp.3_5'Flank|CASP2_uc011kta.2_5'Flank|TMEM139_uc022aoc.1_Missense_Mutation_p.Y114H|TMEM139_uc010lov.3_Missense_Mutation_p.Y114H|TMEM139_uc003wck.4_Missense_Mutation_p.Y114H|TMEM139_uc003wcn.3_5'UTR|TMEM139_uc022aod.1_5'UTR|TMEM139_uc003wcm.3_Missense_Mutation_p.Y114H	NM_001242774	NP_001229703	Q8IV31	TM139_HUMAN	Homo sapiens transmembrane protein 139 (TMEM139), transcript variant 3, mRNA.	114						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					ACCACCCCCCTACAGCACTGT	0.577000														88			41		0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35532631	35532631	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr20:35532631T>C	uc002xgh.2	-	12	1632	c.1432A>G	c.(1432-1434)Aaa>Gaa	p.K478E	SAMHD1_uc010gft.2_Non-coding_Transcript	NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	478					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GCAACCTCTTTTGGAAGAGAT	0.388000														72			101		0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27888159	27888159	+	Missense_Mutation	SNP	A	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr2:27888159A>G	uc002rlk.4	+	1	1300	c.1018A>G	c.(1018-1020)Atg>Gtg	p.M340V	SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein (SLC4A1AP), mRNA.	340						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					CACCTGGGGAATGGGTAAGAA	0.388000														55			49		0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98652854	98652854	+	Missense_Mutation	SNP	G	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr13:98652854G>A	uc001vne.3	+	12	1297	c.1117G>A	c.(1117-1119)Gtt>Att	p.V373I	IPO5_uc001vnf.1_Missense_Mutation_p.V355I|IPO5_uc010tik.1_Missense_Mutation_p.V230I|IPO5_uc010til.1_Missense_Mutation_p.V295I|IPO5_uc001vng.1_5'Flank	NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	355	Ran-GTP binding (By similarity).				NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TGGAAAGCTCGTTCTGCCGAT	0.418000														26			29		0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761636	55761636	+	Missense_Mutation	SNP	A	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr11:55761636A>C	uc010riv.2	-	0	466	c.466T>G	c.(466-468)Ttc>Gtc	p.F156V		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TTGACCATGAAGTTCAGCAAC	0.507000														57			28		0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99037979	99037979	+	Missense_Mutation	SNP	A	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr13:99037979A>C	uc001vnh.3	+	7	909	c.670A>C	c.(670-672)Atg>Ctg	p.M224L	FARP1_uc001vnj.3_Missense_Mutation_p.M224L	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	224	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCGGCTAGAGATGTATGGAAT	0.488000														60			35		0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9528579	9528579	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr2:9528579T>C	uc002qzh.2	+	21	2627	c.2287T>C	c.(2287-2289)Tac>Cac	p.Y763H	ASAP2_uc002qzi.2_Missense_Mutation_p.Y763H	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	763					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	p.Y763Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GAATGAGACTTACGGAGCCCT	0.597000														25			18		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130292932	130292932	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr3:130292932T>A	uc010htl.3	+	6	3141	c.3110T>A	c.(3109-3111)gTg>gAg	p.V1037E		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1037	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTCAACAGAGTGCGAATAGGA	0.418000														19			18		0	0	1	0	0
LRPAP1	4043	broad.mit.edu	37	4	3519768	3519768	+	Silent	SNP	A	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr4:3519768A>G	uc003ghh.4	-	4	829	c.744T>C	c.(742-744)acT>acC	p.T248T		NM_002337	NP_002328	P30533	AMRP_HUMAN	Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.	248	LDL receptor binding (Potential).				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		CACCAGCCTCAGTGCTGTAGC	0.657000														27			10		0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135644423	135644423	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr6:135644423C>A	uc003qgi.3	-	24	3589	c.3205G>T	c.(3205-3207)Gaa>Taa	p.E1069*	AHI1_uc003qgf.3_Non-coding_Transcript|AHI1_uc003qgg.3_Nonsense_Mutation_p.E519*|AHI1_uc003qgh.3_Nonsense_Mutation_p.E1069*|AHI1_uc003qgj.3_Nonsense_Mutation_p.E1069*|AHI1_uc003qgk.4_Intron	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	1069	SH3.					adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		ATGGTTAGTTCATCTGATCGA	0.438000														14			12		0.00010058	0.000102697	1	1	0
SOX30	11063	broad.mit.edu	37	5	157075894	157075894	+	Missense_Mutation	SNP	A	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr5:157075894A>T	uc003lxb.1	-	1	1320	c.978T>A	c.(976-978)gaT>gaA	p.D326E	SOX30_uc003lxc.1_Missense_Mutation_p.D326E|SOX30_uc011dds.1_Missense_Mutation_p.D21E	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	326					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)			TGAAGGGAGTATCTGGTATGC	0.428000														55			34		0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103563517	103563517	+	Silent	SNP	A	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr10:103563517A>G	uc001ktv.2	-	6	1454	c.1011T>C	c.(1009-1011)aaT>aaC	p.N337N	MGEA5_uc010qqe.1_Silent_p.N337N|MGEA5_uc009xws.2_Silent_p.N337N|MGEA5_uc001ktw.2_Silent_p.N337N|MGEA5_uc009xwt.2_Intron	NM_012215	NP_036347	O60502	NCOAT_HUMAN	Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA.	337					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTCTCACTCCATTCATGTTTG	0.438000														102			9		0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761615	55761615	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr11:55761615C>T	uc010riv.2	-	0	487	c.487G>A	c.(487-489)Gtc>Atc	p.V163I		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AAGCTGCTGACATGGCTTGTG	0.483000														54			40		0	0	1	0	0
KIN	22944	broad.mit.edu	37	10	7829859	7829859	+	Missense_Mutation	SNP	G	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr10:7829859G>C	uc001ijt.3	-	0	132	c.38C>G	c.(37-39)gCc>gGc	p.A13G	KIN_uc010qaz.2_Non-coding_Transcript|KIN_uc010qba.2_5'UTR|ATP5C1_uc010qbb.2_5'Flank|ATP5C1_uc009xiq.1_5'Flank|ATP5C1_uc010qbc.1_5'Flank|ATP5C1_uc001iju.3_5'Flank|ATP5C1_uc001ijv.3_5'Flank	NM_012311	NP_036443	O60870	KIN17_HUMAN	Homo sapiens KIN, antigenic determinant of recA protein homolog (mouse) (KIN), transcript variant 1, mRNA.	13					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	RNA binding|double-stranded DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						GATCCTGTTGGCGATAGCCTT	0.612000														67			54		0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139251190	139251190	+	Missense_Mutation	SNP	G	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr6:139251190G>C	uc003qii.3	-	8	1760	c.1181C>G	c.(1180-1182)gCt>gGt	p.A394G	REPS1_uc003qig.4_Missense_Mutation_p.A394G|REPS1_uc011edr.2_Missense_Mutation_p.A394G|REPS1_uc003qij.3_Missense_Mutation_p.A394G|REPS1_uc003qik.3_Missense_Mutation_p.A27G	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	394						coated pit|plasma membrane	SH3 domain binding|calcium ion binding	p.P394T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		AGGAGCTTCAGCAGGAGAGCC	0.418000														51			45		0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123848831	123848831	+	Missense_Mutation	SNP	A	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr4:123848831A>G	uc003iez.4	+	1	279	c.206A>G	c.(205-207)cAt>cGt	p.H69R	SPATA5_uc003iey.3_Missense_Mutation_p.H68R	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	Homo sapiens spermatogenesis associated 5 (SPATA5), mRNA.	69					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TCCCTTATTCATCTTGGACTC	0.338000														58			51		0	0	1	0	0
TMEM245	23731	broad.mit.edu	37	9	111853340	111853340	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr9:111853340G>A	uc004bdt.4	-	4	1044	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*	TMEM245_uc004bds.4_Non-coding_Transcript	NM_032012	NP_114401	Q9H330	CI005_HUMAN	Homo sapiens chromosome 9 open reading frame 5 (C9orf5), mRNA.	338						integral to membrane											TCAGGCCTTCGTCTGCCCAGA	0.502000														60			13		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57573720	57573720	+	Missense_Mutation	SNP	G	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr12:57573720G>A	uc001snd.3	+	29	5588	c.5122G>A	c.(5122-5124)Gtc>Atc	p.V1708I		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1708					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCATGGCCTTGTCGTCCACCC	0.622000														64			47		0	0	1	0	0
PPP4C	5531	broad.mit.edu	37	16	30094761	30094761	+	Missense_Mutation	SNP	G	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr16:30094761G>A	uc002dwe.3	+	5	485	c.350G>A	c.(349-351)aGt>aAt	p.S117N	BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.3_Missense_Mutation_p.S117N	NM_002720	NP_002711	P60510	PP4C_HUMAN	Homo sapiens protein phosphatase 4, catalytic subunit (PPP4C), mRNA.	117					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	NF-kappaB-inducing kinase activity|metal ion binding|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						AACCATGAGAGTCGCCAGATC	0.592000														59			88		0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	80040402	80040402	+	Silent	SNP	G	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr5:80040402G>A	uc003kgz.3	+	11	1984	c.1731G>A	c.(1729-1731)aaG>aaA	p.K577K		NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	577					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding	p.K577T(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GGAAGTTAAAGAAGTGGGTGA	0.338000								Mismatch excision repair (MMR)						28			20		0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35085735	35085735	+	Silent	SNP	G	A	A	rs149432225		TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr15:35085735G>A	uc001ziu.1	-	2	408	c.165C>T	c.(163-165)taC>taT	p.Y55Y	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	55					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CATCACCTACGTAGGAGTCCT	0.473000														33			31		0	0	1	0	0
KLF6	1316	broad.mit.edu	37	10	3822362	3822362	+	Missense_Mutation	SNP	C	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr10:3822362C>T	uc001iha.3	-	2	1003	c.736G>A	c.(736-738)Gag>Aag	p.E246K	KLF6_uc010qaj.2_Intron|KLF6_uc010qak.2_Non-coding_Transcript|KLF6_uc010qal.2_Missense_Mutation_p.E204K	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA.	246					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		CTGGTTAACTCATCACTTCTT	0.542000														47			19		0	0	1	0	0
MLST8	64223	broad.mit.edu	37	16	2258565	2258565	+	Silent	SNP	C	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr16:2258565C>T	uc002coy.3	+	7	1204	c.813C>T	c.(811-813)ggC>ggT	p.G271G	MLST8_uc002cpc.3_Silent_p.G271G|MLST8_uc010uvx.2_Silent_p.G205G|MLST8_uc002cpd.3_Silent_p.G205G|MLST8_uc002cpb.3_Silent_p.G270G|MLST8_uc002coz.3_Silent_p.G271G|MLST8_uc002cpe.3_Silent_p.G271G|MLST8_uc002cpf.3_Silent_p.G271G|MLST8_uc002cph.3_Non-coding_Transcript	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	Homo sapiens MTOR associated protein, LST8 homolog (S. cerevisiae) (MLST8), transcript variant 1, mRNA.	271					T cell costimulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						CCTCCCGCGGCTGGATGTGGG	0.677000														129			41		0	0	1	0	0
CA8	767	broad.mit.edu	37	8	61192348	61192348	+	Silent	SNP	C	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr8:61192348C>T	uc003xtz.1	-	1	440	c.192G>A	c.(190-192)tcG>tcA	p.S64S	CA8_uc003xua.1_Silent_p.S64S|CA8_uc003xub.3_Silent_p.S64S	NM_004056	NP_004047	P35219	CAH8_HUMAN	Homo sapiens carbonic anhydrase VIII (CA8), mRNA.	64					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				CATCCAACAGCGAGGGGTCAT	0.473000														33			61		0	0	1	0	0
CTNS	1497	broad.mit.edu	37	17	3550808	3550808	+	Silent	SNP	C	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr17:3550808C>T	uc002fwa.3	+	3	602	c.132C>T	c.(130-132)ctC>ctT	p.L44L	CTNS_uc002fwb.3_Silent_p.L44L|CTNS_uc010ckj.3_Silent_p.L44L|CTNS_uc010vrv.2_Intron|CTNS_uc010vrw.2_Intron	NM_001031681	NP_001026851	O60931	CTNS_HUMAN	Homo sapiens cystinosin, lysosomal cystine transporter (CTNS), transcript variant 1, mRNA.	44					ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	ACGTCAGCCTCACCCTGCGGT	0.602000														69			13		0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129817185	129817185	+	Silent	SNP	G	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr11:129817185G>A	uc001qfm.3	-	4	607	c.375C>T	c.(373-375)acC>acT	p.T125T	PRDM10_uc001qfj.3_Silent_p.T39T|PRDM10_uc001qfk.3_Silent_p.T39T|PRDM10_uc001qfl.3_Silent_p.T39T|PRDM10_uc010sbx.2_Silent_p.T39T|PRDM10_uc001qfn.3_Silent_p.T125T|PRDM10_uc009zct.1_Silent_p.T157T	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGCCTAGAGGGGTCTGCAGAG	0.547000														43			27		0	0	1	0	0
BASP1	10409	broad.mit.edu	37	5	17275784	17275784	+	Silent	SNP	G	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr5:17275784G>A	uc003jfx.3	+	1	638	c.459G>A	c.(457-459)gcG>gcA	p.A153A	BASP1_uc021xws.1_Silent_p.A153A	NM_006317	NP_006308	P80723	BASP1_HUMAN	Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.	153					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						AGACTGAGGCGCCCGCAGCTC	0.701000														7			5		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47369741	47369741	+	Missense_Mutation	SNP	G	A	A	rs139632666	by1000genomes	TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr18:47369741G>A	uc002leb.2	-	33	4769	c.4481C>T	c.(4480-4482)tCg>tTg	p.S1494L	MYO5B_uc002ldz.3_Missense_Mutation_p.S64L|MYO5B_uc002lea.2_Missense_Mutation_p.S609L	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1494					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CACTGTGCCCGACAGCATCTG	0.557000														67			5		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76903188	76903188	+	Silent	SNP	C	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr11:76903188C>T	uc001oyb.2	+	30	4289	c.4017C>T	c.(4015-4017)aaC>aaT	p.N1339N	MYO7A_uc010rsm.1_Silent_p.N1328N|MYO7A_uc001oyc.2_Silent_p.N1339N|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.N550N	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1339	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGGAGCGCAACGCCCCCTGGA	0.662000											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			32		0	0	1	0	0
TRIM2	23321	broad.mit.edu	37	4	154215496	154215496	+	Missense_Mutation	SNP	A	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr4:154215496A>T	uc003inh.2	+	4	730	c.645A>T	c.(643-645)gaA>gaT	p.E215D	TRIM2_uc003ing.2_Missense_Mutation_p.E188D	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA.	188						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TCATCTCTGAAATCATTCATC	0.413000														42			29		0	0	1	0	0
BHMT	635	broad.mit.edu	37	5	78426847	78426847	+	Missense_Mutation	SNP	A	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr5:78426847A>G	uc003kfu.4	+	7	1234	c.1129A>G	c.(1129-1131)Aaa>Gaa	p.K377E	BHMT_uc011cti.2_Missense_Mutation_p.K224E	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA.	377					protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GGGAGTGACCAAAGGAACAGC	0.493000														101			50		0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179193185	179193185	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr5:179193185G>T	uc003mkm.3	+	1	1437	c.1174G>T	c.(1174-1176)Gag>Tag	p.E392*	MAML1_uc003mkn.1_Nonsense_Mutation_p.E392*	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	392					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGGGCCTCAGAGCTGTCCTC	0.657000														68			23		2.32416e-17	2.62143e-17	1	1	0
POLK	51426	broad.mit.edu	37	5	74892358	74892358	+	Missense_Mutation	SNP	G	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr5:74892358G>C	uc003kdw.3	+	12	1936	c.1840G>C	c.(1840-1842)Gag>Cag	p.E614Q	POLK_uc003kdx.3_Non-coding_Transcript|POLK_uc003kdy.3_Non-coding_Transcript|POLK_uc010izq.3_Missense_Mutation_p.E416Q|POLK_uc003kec.3_Missense_Mutation_p.E524Q|POLK_uc010izr.3_Non-coding_Transcript|POLK_uc010izs.3_Non-coding_Transcript|POLK_uc003ked.3_Intron|POLK_uc003kee.3_Intron	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	Homo sapiens polymerase (DNA directed) kappa (POLK), mRNA.	614					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GGAAATATCAGAGAATTCAGA	0.368000								DNA polymerases (catalytic subunits)						81			69		0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88029381	88029381	+	Missense_Mutation	SNP	G	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr4:88029381G>T	uc011ccz.2	+	10	1722	c.1447G>T	c.(1447-1449)Gac>Tac	p.D483Y	AFF1_uc003hqj.4_Missense_Mutation_p.D476Y|AFF1_uc003hqk.4_Missense_Mutation_p.D476Y|AFF1_uc011cda.2_Missense_Mutation_p.D114Y	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	476	Poly-Ser.					nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AAGCACCAGTGACTCAGACAG	0.512000														36			20		3.8784e-16	4.3242e-16	1	1	0
FAT1	2195	broad.mit.edu	37	4	187539116	187539116	+	Missense_Mutation	SNP	A	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr4:187539116A>G	uc003izf.3	-	9	8812	c.8624T>C	c.(8623-8625)cTt>cCt	p.L2875P		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2875	Cadherin 26.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCATGGTCAAGTTCCTTTAA	0.418000										HNSCC(5;0.00058)				37			24		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33961646	33961646	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr15:33961646T>C	uc001zhi.3	+	36	5781	c.5711T>C	c.(5710-5712)cTc>cCc	p.L1904P	RYR3_uc010bar.3_Missense_Mutation_p.L1904P	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1904	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGGACCTTCTCCTTCACTGT	0.463000														29			20		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155225827	155225827	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr4:155225827T>C	uc003inw.2	-	16	4234	c.4234A>G	c.(4234-4236)Ata>Gta	p.I1412V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1412	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTACCAATTATGTGATATTCA	0.418000														23			23		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14497016	14497016	+	Missense_Mutation	SNP	C	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr5:14497016C>A	uc003jff.3	+	49	7915	c.7909C>A	c.(7909-7911)Cgt>Agt	p.R2637S	TRIO_uc003jfg.3_Non-coding_Transcript	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2637					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CACAGCACTCCGTTTAAGGAA	0.448000														39			29		5.60225e-13	6.03798e-13	1	1	0
HMG20A	10363	broad.mit.edu	37	15	77759508	77759508	+	Silent	SNP	C	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr15:77759508C>A	uc002bcr.3	+	4	510	c.309C>A	c.(307-309)ccC>ccA	p.P103P	HMG20A_uc002bcs.3_Silent_p.P103P	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN	Homo sapiens high mobility group 20A (HMG20A), mRNA.	103					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GCAATGCACCCAAATCCCCCC	0.428000														38			21		1.22574e-08	1.29235e-08	1	1	0
HOXA3	3200	broad.mit.edu	37	7	27147884	27147884	+	Missense_Mutation	SNP	G	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr7:27147884G>A	uc011jzl.2	-	2	1182	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	HOXA3_uc003syk.3_Missense_Mutation_p.R328C	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	328					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GCCGTGTAGCGCTTCTGTGGG	0.726000														11			5		0	0	1	0	0
NHP2	55651	broad.mit.edu	37	5	177580732	177580732	+	Silent	SNP	G	T	T			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr5:177580732G>T	uc003mir.2	-	0	230	c.87C>A	c.(85-87)gtC>gtA	p.V29V	NHP2_uc003mis.2_Silent_p.V29V	NM_017838	NP_060308	Q9NX24	NHP2_HUMAN	Homo sapiens NHP2 ribonucleoprotein homolog (yeast) (NHP2), transcript variant 1, mRNA.	29					rRNA pseudouridine synthesis	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			endometrium(1)|kidney(1)|ovary(2)	4						GGTTCTGGTTGACCAGCAGCT	0.662000														18			20		8.28177e-16	9.12877e-16	1	1	0
CELSR3	1951	broad.mit.edu	37	3	48690562	48690562	+	Missense_Mutation	SNP	A	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr3:48690562A>C	uc003cuf.1	-	11	5717	c.5717T>G	c.(5716-5718)cTc>cGc	p.L1906R	CELSR3_uc010hkg.3_5'Flank|CELSR3_uc003cul.3_Missense_Mutation_p.L1836R	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1836	Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCCAGAAGGAGATGGGAAGC	0.622000														32			25		0	0	1	0	0
BC032026	0	broad.mit.edu	37	15	101098922	101098922	+	RNA	SNP	T	C	C	rs9920217	by1000genomes	TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr15:101098922T>C	uc002bwc.1	+	0		c.38T>C								Homo sapiens cDNA clone IMAGE:4822975.																		GGAATGCTCATCAACTTGAGG	0.607000														43			4		0	0	1	0	0
C1orf150	148823	broad.mit.edu	37	1	247737622	247737622	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr1:247737622T>C	uc001idf.3	+	4	493	c.346T>C	c.(346-348)Tct>Cct	p.S116P	C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	116										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TCTTAGGACTTCTGTTAGTAG	0.433000														49			32		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48411809	48411809	+	Silent	SNP	C	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr7:48411809C>A	uc003toq.2	+	32	10872	c.10848C>A	c.(10846-10848)gcC>gcA	p.A3616A	ABCA13_uc010kys.1_Silent_p.A690A|ABCA13_uc003tos.1_Silent_p.A442A	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3616					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATTTCCTGGCCTGGTTCCTGG	0.463000														47			29		4.59853e-10	4.90173e-10	1	1	0
USP39	10713	broad.mit.edu	37	2	85875075	85875075	+	Nonsense_Mutation	SNP	T	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr2:85875075T>G	uc002sqe.3	+	11	1622	c.1586T>G	c.(1585-1587)tTa>tGa	p.L529*	USP39_uc002sqb.3_Nonsense_Mutation_p.L260*|USP39_uc010ysu.2_Nonsense_Mutation_p.L451*|USP39_uc010ysv.2_Nonsense_Mutation_p.L426*|USP39_uc002sqg.3_Nonsense_Mutation_p.L529*|USP39_uc010fgo.3_Missense_Mutation_p.Y484D	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	Homo sapiens ubiquitin specific peptidase 39 (USP39), mRNA.	529					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						TGGTATGAATTACAAGACCTC	0.478000														47			36		0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135447853	135447853	+	Missense_Mutation	SNP	G	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr9:135447853G>A	uc004cbn.3	+	6	967	c.919G>A	c.(919-921)Gtg>Atg	p.V307M	C9orf171_uc004cbo.3_Missense_Mutation_p.V271M	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	307										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						AGAGTGTGCCGTGCGCCAGGG	0.602000														28			24		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39885784	39885784	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr15:39885784T>C	uc001zkh.3	+	18	3361	c.3182T>C	c.(3181-3183)cTt>cCt	p.L1061P	THBS1_uc010bbi.3_Missense_Mutation_p.L533P	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	1061	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TACTCGGGCCTTTCTGTGAAA	0.582000														104			62		0	0	1	0	0
GTPBP4	23560	broad.mit.edu	37	10	1061760	1061760	+	Missense_Mutation	SNP	C	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr10:1061760C>A	uc001ift.3	+	15	1747	c.1676C>A	c.(1675-1677)gCt>gAt	p.A559D	GTPBP4_uc010qad.2_Missense_Mutation_p.A443D|GTPBP4_uc010qae.2_Missense_Mutation_p.A512D	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	559					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GAAGACTCTGCTCCCCCGTCC	0.552000														99			52		1.07234e-20	1.22373e-20	1	1	0
RSC1A1	6248	broad.mit.edu	37	1	15987648	15987648	+	Silent	SNP	T	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr1:15987648T>C	uc010obn.2	+	0	1285	c.1285T>C	c.(1285-1287)Tta>Cta	p.L429L		NM_006511	NP_006502	Q92681	RSCA1_HUMAN	Homo sapiens regulatory solute carrier protein, family 1, member 1 (RSC1A1), mRNA.	429					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	Golgi apparatus|cell junction|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACAGAAAAATTAACAGGTAC	0.433000														37			30		0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110415933	110415933	+	Missense_Mutation	SNP	A	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr4:110415933A>G	uc003hzk.3	+	5	1464	c.1409A>G	c.(1408-1410)tAt>tGt	p.Y470C	SEC24B_uc003hzl.3_Missense_Mutation_p.Y435C|SEC24B_uc011cfp.2_Missense_Mutation_p.Y501C|SEC24B_uc011cfq.2_Missense_Mutation_p.Y470C|SEC24B_uc011cfr.2_Missense_Mutation_p.Y435C	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	470					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAGCCTGGTTATCAGAATGCT	0.473000														75			55		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325186	57325186	+	Missense_Mutation	SNP	A	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr19:57325186A>G	uc002qnu.2	-	6	4975	c.4624T>C	c.(4624-4626)Tgc>Cgc	p.C1542R	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.C1513R|PEG3_uc002qnv.2_Missense_Mutation_p.C1542R|PEG3_uc002qnw.2_Missense_Mutation_p.C1418R|PEG3_uc002qnx.2_Missense_Mutation_p.C1416R|PEG3_uc010etr.2_Missense_Mutation_p.C1542R	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1542					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TAGCCTGAGCACTCCCCAAAG	0.488000														73			28		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1219640	1219640	+	Missense_Mutation	SNP	T	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr5:1219640T>C	uc003jbw.4	+	9	1455	c.1399T>C	c.(1399-1401)Ttc>Ctc	p.F467L		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	467					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCTGGGGACATTCCTCATTGG	0.627000														27			20		0	0	1	0	0
C15orf42	90381	broad.mit.edu	37	15	90118913	90118913	+	Silent	SNP	C	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr15:90118913C>A	uc002boe.3	+	0	96	c.96C>A	c.(94-96)acC>acA	p.T32T	C15orf42_uc021sug.1_Silent_p.T32T	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	32					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GCCTCCTCACCTATCTGAGTT	0.687000														9			4		0.00909568	0.00909568	1	1	0
TBC1D19	55296	broad.mit.edu	37	4	26737100	26737100	+	Missense_Mutation	SNP	T	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr4:26737100T>A	uc003gsf.4	+	15	1378	c.1108T>A	c.(1108-1110)Tca>Aca	p.S370T	TBC1D19_uc010iew.3_Missense_Mutation_p.S370T|TBC1D19_uc011bxu.2_Missense_Mutation_p.S305T	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	Homo sapiens TBC1 domain family, member 19 (TBC1D19), mRNA.	370	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				TCATGGATTTTCAATGTATGG	0.264000														11			4		0	0	1	0	0
TBC1D7	51256	broad.mit.edu	37	6	13307966	13307966	+	Missense_Mutation	SNP	A	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr6:13307966A>C	uc003naj.3	-	5	639	c.531T>G	c.(529-531)ttT>ttG	p.F177L	TBC1D7_uc011dis.2_Intron|TBC1D7_uc003nal.3_Missense_Mutation_p.F177L|TBC1D7_uc003nan.3_Missense_Mutation_p.F177L|TBC1D7_uc003nam.3_Missense_Mutation_p.F177L|TBC1D7_uc003nao.3_Missense_Mutation_p.F150L|TBC1D7_uc010jpd.3_Missense_Mutation_p.F131L	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	Homo sapiens TBC1 domain family, member 7 (TBC1D7), transcript variant 1, mRNA.	177	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			AGTATTGTTCAAACGCTTTTG	0.398000														52			21		0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54080607	54080607	+	Silent	SNP	A	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr2:54080607A>G	uc021vhn.1	-	0	1287	c.1287T>C	c.(1285-1287)tcT>tcC	p.S429S	GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_Silent_p.S429S	NM_006794	NP_006785	O95800	GPR75_HUMAN	Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.	429						integral to plasma membrane	G-protein coupled receptor activity	p.S429F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACATGTAGGCAGAGTTTGTTT	0.448000														131			46		0	0	1	0	0
IL29	282618	broad.mit.edu	37	19	39787490	39787490	+	Missense_Mutation	SNP	T	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr19:39787490T>G	uc002okv.3	+	1	314	c.217T>G	c.(217-219)Ttc>Gtc	p.F73V		NM_172140	NP_742152	Q8IU54	IL29_HUMAN	Homo sapiens interleukin 29 (interferon, lambda 1) (IL29), mRNA.	73					defense response to virus|negative regulation of cell proliferation|negative regulation of interleukin-13 production|negative regulation of interleukin-5 production|negative regulation of memory T cell differentiation|negative regulation of transcription, DNA-dependent|negative regulation of type 2 immune response|positive regulation of MHC class I biosynthetic process|positive regulation of immune response|positive regulation of interferon-gamma production|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of STAT protein	extracellular space|interleukin-28 receptor complex	cytokine activity|interleukin-28 receptor binding			endometrium(2)|lung(2)	4	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CTCTCCTGTCTTCCCCGGGAA	0.572000														24			18		0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139273027	139273027	+	Silent	SNP	C	G	G			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr9:139273027C>G	uc004chh.3	-	20	3261	c.3252G>C	c.(3250-3252)ggG>ggC	p.G1084G		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	1084	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CAGGGAGAAGCCCCTGGGCTG	0.687000														10			3		0	0	1	0	0
IGH	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	C	C			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr16:32070612A>C	uc002ecv.1	+	0		c.65A>C								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H233.																		GGTCTCCTGCAAGGCTTCTGG	0.552000														101			8		0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248344277	248344277	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr1:248344277delA	uc010pzf.2	+	0	990	c.990delA	c.(988-990)atafs	p.I330fs		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	330					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTTTCTAATATCCATCTTTT	0.318													---	117	---	---	49	---					
DMXL1	1657	broad.mit.edu	37	5	118500212	118500213	+	Frame_Shift_Ins	INS	-	AGTCATTT	AGTCATTT			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr5:118500212_118500213insAGTCATTT	uc010jcl.1	+	19	4894_4895	c.4713_4714insAGTCATTT	c.(4711-4716)acaagtfs	p.T1571fs	DMXL1_uc003ksd.2_Frame_Shift_Ins_p.T1571fs|DMXL1_uc021ycw.1_Frame_Shift_Ins_p.T1398fs	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1571										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCCTGTCTACAAGTCATTTTGC	0.342													---	42	---	---	20	---					
ZNF292	23036	broad.mit.edu	37	6	87928395	87928395	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr6:87928395delA	uc003plm.4	+	3	525	c.484delA	c.(484-486)aaafs	p.K162fs	ZNF292_uc003pll.1_Frame_Shift_Del_p.K162fs	NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGGGGTGTGGAAAAACCCGGT	0.368													---	8	---	---	7	---					
AIM1	202	broad.mit.edu	37	6	106968989	106968991	+	In_Frame_Del	DEL	TCT	-	-			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr6:106968989_106968991delTCT	uc003prh.3	+	1	3594_3596	c.2682_2684delTCT	c.(2680-2685)aatctt>aat	p.L896del		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	896							sugar binding			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)		AACAGTCAAATCTTCTGCCCGAC	0.463													---	93	---	---	55	---					
GPT	2875	broad.mit.edu	37	8	145732311	145732312	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr8:145732311_145732312insA	uc003zdh.4	+	10	1642_1643	c.1419_1420insA	c.(1417-1422)cccttgfs	p.P473fs	MFSD3_uc003zdi.1_5'Flank	NM_005309	NP_005300	P24298	ALAT1_HUMAN	Homo sapiens glutamic-pyruvate transaminase (alanine aminotransferase) (GPT), mRNA.	473					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TTCTGCCCCCCTTGGAGAAACT	0.629													---	73	---	---	36	---					
EBLN1	340900	broad.mit.edu	37	10	22498484	22498485	+	In_Frame_Ins	INS	-	AGA	AGA	rs145490621	by1000genomes	TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr10:22498484_22498485insAGA	uc021pob.1	-	0	428_429	c.428_429insTCT	c.(427-429)ctg>ctTCTg	p.143_143L>LL		NM_001199938	NP_001186867			Homo sapiens endogenous Bornavirus-like nucleoprotein 1 (EBLN1), mRNA.																		CAATGCCTATCAGATCACAGCA	0.455													---	4	---	---	2	---					
ITFG1	81533	broad.mit.edu	37	16	47189669	47189669	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr16:47189669delT	uc002eet.3	-	17	1859	c.1800delA	c.(1798-1800)aaafs	p.K600fs	ITFG1_uc010vgg.2_Frame_Shift_Del_p.K345fs|ITFG1_uc010vgh.2_3'UTR	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 1 (ITFG1), mRNA.	600						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CTTCTTGTCGTTTTTCTCTAT	0.328													---	162	---	---	77	---					
FOXK2	3607	broad.mit.edu	37	17	80543893	80543893	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr17:80543893delC	uc002kfn.3	+	6	1564	c.1393delC	c.(1393-1395)ccafs	p.P465fs	FOXK2_uc002kfm.1_Frame_Shift_Del_p.P465fs|FOXK2_uc010diu.3_Intron	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	465					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			GACCTCCCAGCCACCCGTCGT	0.632													---	48	---	---	22	---					
ZNF814	730051	broad.mit.edu	37	19	58384658	58384660	+	In_Frame_Del	DEL	CTT	-	-			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	5d320b5a-a67a-4a11-908d-9c5e8c70e16a	g.chr19:58384658_58384660delCTT	uc002qqo.2	-	2	2370_2372	c.2098_2100delAAG	c.(2098-2100)aagdel	p.K700del	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	700					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						GGAGGTGAGACTTCTTCTTAAAT	0.384													---	10	---	---	8	---					
OR2M2	391194	broad.mit.edu	37	1	248344277	248344277	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr1:248344277delA	uc010pzf.2	+	0	990	c.990delA	c.(988-990)atafs	p.I330fs		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	330					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTTTCTAATATCCATCTTTT	0.318													---	117	---	---	49	---					
ANKRD36	375248	broad.mit.edu	37	2	97808574	97808575	+	Splice_Site	INS	-	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr2:97808574_97808575insA	uc010yva.2	+	8	1145	c.901_splice	c.e8+2	p.V301_splice	ANKRD36_uc021vlk.1_Intron|ANKRD36_uc010yuz.1_Splice_Site|ANKRD36_uc010fic.2_Intron|ANKRD36_uc002sxo.2_Intron|ANKRD36_uc002sxp.3_Splice_Site	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	301								p.?(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGGGACAGGTATTTTGGAATA	0.366													---	4	---	---	8	---					
DMXL1	1657	broad.mit.edu	37	5	118500212	118500213	+	Frame_Shift_Ins	INS	-	AGTCATTT	AGTCATTT			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr5:118500212_118500213insAGTCATTT	uc010jcl.1	+	19	4894_4895	c.4713_4714insAGTCATTT	c.(4711-4716)acaagtfs	p.T1571fs	DMXL1_uc003ksd.2_Frame_Shift_Ins_p.T1571fs|DMXL1_uc021ycw.1_Frame_Shift_Ins_p.T1398fs	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1571										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCCTGTCTACAAGTCATTTTGC	0.342													---	42	---	---	20	---					
ZNF292	23036	broad.mit.edu	37	6	87928395	87928395	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr6:87928395delA	uc003plm.4	+	3	525	c.484delA	c.(484-486)aaafs	p.K162fs	ZNF292_uc003pll.1_Frame_Shift_Del_p.K162fs	NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGGGGTGTGGAAAAACCCGGT	0.368													---	8	---	---	7	---					
AIM1	202	broad.mit.edu	37	6	106968989	106968991	+	In_Frame_Del	DEL	TCT	-	-			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr6:106968989_106968991delTCT	uc003prh.3	+	1	3594_3596	c.2682_2684delTCT	c.(2680-2685)aatctt>aat	p.L896del		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	896							sugar binding			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)		AACAGTCAAATCTTCTGCCCGAC	0.463													---	93	---	---	55	---					
PILRB	29990	broad.mit.edu	37	7	99943553	99943553	+	RNA	DEL	T	-	-			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr7:99943553delT	uc022ail.1	+	3		c.346delT						Q9UKJ0	PILRB_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 2, non-coding RNA.						activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGTGAAGGGATTTTTTTTTTT	0.413													---	4	---	---	2	---					
GPT	2875	broad.mit.edu	37	8	145732311	145732312	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr8:145732311_145732312insA	uc003zdh.4	+	10	1642_1643	c.1419_1420insA	c.(1417-1422)cccttgfs	p.P473fs	MFSD3_uc003zdi.1_5'Flank	NM_005309	NP_005300	P24298	ALAT1_HUMAN	Homo sapiens glutamic-pyruvate transaminase (alanine aminotransferase) (GPT), mRNA.	473					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TTCTGCCCCCCTTGGAGAAACT	0.629													---	73	---	---	36	---					
CNTNAP3B	728577	broad.mit.edu	37	9	43844265	43844265	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr9:43844265delG	uc004ada.2	+	9	2009	c.1599delG	c.(1597-1599)gcgfs	p.A533fs	CNTNAP3B_uc004acz.2_Intron	NM_001201380	NP_001188309	Q96NU0	CNT3B_HUMAN	Homo sapiens contactin associated protein-like 3B (CNTNAP3B), mRNA.	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCAGGGGGCGCTGGGGAGTT	0.542													---	3	---	---	4	---					
EBLN1	340900	broad.mit.edu	37	10	22498484	22498485	+	In_Frame_Ins	INS	-	AGA	AGA	rs145490621	by1000genomes	TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr10:22498484_22498485insAGA	uc021pob.1	-	0	428_429	c.428_429insTCT	c.(427-429)ctg>ctTCTg	p.143_143L>LL		NM_001199938	NP_001186867			Homo sapiens endogenous Bornavirus-like nucleoprotein 1 (EBLN1), mRNA.																		CAATGCCTATCAGATCACAGCA	0.455													---	4	---	---	2	---					
FOXK2	3607	broad.mit.edu	37	17	80543893	80543893	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr17:80543893delC	uc002kfn.3	+	6	1564	c.1393delC	c.(1393-1395)ccafs	p.P465fs	FOXK2_uc002kfm.1_Frame_Shift_Del_p.P465fs|FOXK2_uc010diu.3_Intron	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	465					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			GACCTCCCAGCCACCCGTCGT	0.632													---	48	---	---	22	---					
ZNF814	730051	broad.mit.edu	37	19	58384658	58384660	+	In_Frame_Del	DEL	CTT	-	-			TCGA-IZ-8195-01A-31D-2396-08	TCGA-IZ-8195-11A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcdb724c-08ad-42b7-9fef-e4d84edaf2fe	34ef600a-d0cc-4306-ac0f-aa096e55c63d	g.chr19:58384658_58384660delCTT	uc002qqo.2	-	2	2370_2372	c.2098_2100delAAG	c.(2098-2100)aagdel	p.K700del	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	700					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						GGAGGTGAGACTTCTTCTTAAAT	0.384													---	10	---	---	8	---					
