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
IPO8	10526	broad.mit.edu	37	12	30787080	30787080	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr12:30787080T>C	uc001rjd.3	-	22	3184	c.2836A>G	c.(2836-2838)Agt>Ggt	p.S946G	IPO8_uc010sjt.2_Missense_Mutation_p.S741G|IPO8_uc001rje.1_Missense_Mutation_p.S435G	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	946					intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AGTGGAGTACTGAACCCCTCA	0.403000														57			5		0	0	0.014758	0	0
KIAA1984	84960	broad.mit.edu	37	9	139694856	139694856	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr9:139694856G>A	uc004cjf.3	+	4	514	c.454G>A	c.(454-456)Gag>Aag	p.E152K		NM_001039374	NP_001034463	Q5T5S1	K1984_HUMAN	Homo sapiens KIAA1984 (KIAA1984), mRNA.	152										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCGCCAGCTGGAGAACAACAT	0.602000														11			6		0	0	0.021553	0	0
ICA1L	130026	broad.mit.edu	37	2	203693626	203693626	+	Missense_Mutation	SNP	T	G	G			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr2:203693626T>G	uc002uzh.1	-	2	271	c.107A>C	c.(106-108)aAa>aCa	p.K36T	ICA1L_uc002uzi.1_Missense_Mutation_p.K36T|ICA1L_uc021vvi.1_Non-coding_Transcript|ICA1L_uc002uzj.3_Missense_Mutation_p.K36T|ICA1L_uc002uzk.1_Missense_Mutation_p.K36T	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA.	36										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCCTCTTTTTTTCCTGTTGC	0.388000														136			4		0	0	0.009096	0	0
SESTD1	91404	broad.mit.edu	37	2	179986590	179986590	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr2:179986590G>A	uc002uni.4	-	12	1499	c.1349C>T	c.(1348-1350)tCc>tTc	p.S450F	SESTD1_uc002unh.4_5'UTR	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.	450					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATAGGCCCAGGATGCCTGATT	0.393000														54			23		0	0	0.076483	0	0
CNOT10	25904	broad.mit.edu	37	3	32766999	32766999	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr3:32766999G>A	uc011axj.1	+	8	1177	c.1100G>A	c.(1099-1101)aGc>aAc	p.S367N	CNOT10_uc011axi.1_Missense_Mutation_p.S79N|CNOT10_uc003cfc.1_Missense_Mutation_p.S307N|CNOT10_uc003cfd.1_Missense_Mutation_p.S306N|CNOT10_uc003cfe.1_Missense_Mutation_p.S307N|CNOT10_uc010hfv.1_Non-coding_Transcript|CNOT10_uc010hfw.1_Missense_Mutation_p.S2N	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 10 (CNOT10), mRNA.	307					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TTTGCCATGAGCAAGCACAAT	0.393000														107			6		0	0	0.029380	0	0
KIAA0753	9851	broad.mit.edu	37	17	6531560	6531560	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr17:6531560G>A	uc002gde.4	-	2	954	c.595C>T	c.(595-597)Cag>Tag	p.Q199*	KIAA0753_uc010clo.3_5'UTR|KIAA0753_uc010vte.2_5'UTR	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	199						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GGATGAGGCTGAAGTCCCGGA	0.483000														122			9		0	0	0.047766	0	0
SNRPN	6638	broad.mit.edu	37	15	25207297	25207297	+	Silent	SNP	C	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr15:25207297C>T	uc001ywu.3	+	1	177	c.51C>T	c.(49-51)caC>caT	p.H17H	SNRPN_uc001ywp.1_5'UTR|SNRPN_uc001ywq.1_5'UTR|SNRPN_uc001ywr.1_5'UTR|SNRPN_uc001yws.1_5'UTR|SNRPN_uc001ywt.1_5'UTR|SNRPN_uc001ywy.1_5'UTR|SNRPN_uc001ywz.1_Non-coding_Transcript|SNRPN_uc001yxa.1_Non-coding_Transcript|SNRPN_uc021sga.1_5'UTR	NM_022804	NP_073715	P63162	RSMN_HUMAN	Homo sapiens SNRPN upstream reading frame (SNURF), transcript variant 2, mRNA.	0					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CAGAACAGCACGTACCAGAGG	0.448000									Prader-Willi syndrome					58			5		0	0	0.014758	0	0
MYBPC2	4606	broad.mit.edu	37	19	50939282	50939282	+	Silent	SNP	G	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr19:50939282G>T	uc002psf.2	+	3	261	c.210G>T	c.(208-210)gtG>gtT	p.V70V		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	70	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGGACGCAGTGGTCGTGGCCA	0.607000														4			5		0.00116845	0.00141095	0.021553	1	0
ULK1	8408	broad.mit.edu	37	12	132395297	132395297	+	Silent	SNP	C	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr12:132395297C>T	uc001uje.3	+	11	1168	c.900C>T	c.(898-900)tcC>tcT	p.S300S		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	300	Interaction with GABARAP and GABARAPL2.|Poly-Ser.				autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCTCGGGGTCCGGCAGCAGCT	0.662000														39			24		0	0	0.108266	0	0
EVI5	7813	broad.mit.edu	37	1	93160869	93160869	+	Missense_Mutation	SNP	C	G	G			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr1:93160869C>G	uc010otf.2	-	6	1049	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q	EVI5_uc001dox.3_Missense_Mutation_p.E347Q|EVI5_uc001doy.1_5'Flank	NM_005665	NP_005656	O60447	EVI5_HUMAN	Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA.	347	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TAGCTTACCTCAGACATAAAG	0.423000														52			5		0	0	0.029380	0	0
ENPP7	339221	broad.mit.edu	37	17	77710872	77710872	+	Silent	SNP	C	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr17:77710872C>T	uc002jxa.3	+	3	1079	c.1059C>T	c.(1057-1059)caC>caT	p.H353H		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	353					negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ATGGGGAGCACGGCTTTGACA	0.607000														78			4		0	0	0.014758	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941242	13941242	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr19:13941242C>T	uc002mxh.1	+	12	2537	c.2348C>T	c.(2347-2349)tCg>tTg	p.S783L	ZSWIM4_uc010xng.1_Missense_Mutation_p.S706L	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	783							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			AAGAACCACTCGGCCTTCGAG	0.697000														130			5		0	0	0.029380	0	0
LSS	4047	broad.mit.edu	37	21	47615617	47615617	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr21:47615617G>A	uc002zij.3	-	18	1869	c.1790C>T	c.(1789-1791)gCc>gTc	p.A597V	LSS_uc002zil.2_Missense_Mutation_p.A597V|LSS_uc011afv.1_Missense_Mutation_p.A586V|LSS_uc002zik.2_Missense_Mutation_p.A517V	NM_001001438	NP_002331	P48449	ERG7_HUMAN	Homo sapiens lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) (LSS), transcript variant 2, mRNA.	597					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	p.A597V(2)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CCCCATACAGGCGAAGGCCTC	0.582000														16			41		0	0	0.045515	0	0
SCN2A	6326	broad.mit.edu	37	2	166201262	166201262	+	Silent	SNP	C	G	G			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr2:166201262C>G	uc002udc.3	+	15	3050	c.2760C>G	c.(2758-2760)ctC>ctG	p.L920L	SCN2A_uc002udd.3_Silent_p.L920L|SCN2A_uc002ude.3_Silent_p.L920L	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	920					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATTGTGAACTCCCACGCTGGC	0.488000														141			24		0	0	0.083992	0	0
XIRP2	129446	broad.mit.edu	37	2	168105759	168105759	+	Silent	SNP	G	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr2:168105759G>A	uc002udx.3	+	8	7946	c.7857G>A	c.(7855-7857)cgG>cgA	p.R2619R	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.R2444R|XIRP2_uc010fpq.3_Silent_p.R2397R|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2444					actin cytoskeleton organization	cell junction	actin binding	p.R2619W(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTAATGCTCGGATACTAGGAG	0.458000														91			31		0	0	0.069456	0	0
GLB1L2	89944	broad.mit.edu	37	11	134241359	134241359	+	Silent	SNP	A	G	G			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr11:134241359A>G	uc001qhp.3	+	13	1589	c.1401A>G	c.(1399-1401)acA>acG	p.T467T	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	467					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		ACTACAAGACAACGAAGATTG	0.542000														112			65		0	0	0.048971	0	0
USH2A	7399	broad.mit.edu	37	1	216138718	216138718	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr1:216138718C>T	uc001hku.1	-	36	7448	c.7061G>A	c.(7060-7062)cGc>cAc	p.R2354H		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2354	Fibronectin type-III 10.		R -> H (in USH2A).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.R2354H(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCATTAGGGCGAAAAGGTGC	0.403000										HNSCC(13;0.011)				86			43		0	0	0.048971	0	0
LOC728613	728613	broad.mit.edu	37	5	1632962	1632962	+	RNA	SNP	T	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr5:1632962T>A	uc003jcq.4	-	1		c.258A>T			LOC728613_uc003jcp.4_Non-coding_Transcript|LOC728613_uc003jcr.3_Non-coding_Transcript|LOC728613_uc003jcs.3_Non-coding_Transcript|LOC728613_uc010ith.1_Non-coding_Transcript|LOC728613_uc003jct.3_Non-coding_Transcript|LOC728613_uc003jcu.3_Non-coding_Transcript|LOC728613_uc003jcv.3_Non-coding_Transcript|LOC728613_uc010iti.1_Non-coding_Transcript|LOC728613_uc003jcw.2_Non-coding_Transcript					Homo sapiens programmed cell death 6 pseudogene (LOC728613), non-coding RNA.																		CCACTCACCGTTGGAGAGAGC	0.498000														39			5		0	0	0.029380	0	0
NKPD1	284353	broad.mit.edu	37	19	45656458	45656458	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr19:45656458G>A	uc010xxi.2	-	3	1237	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W	NKPD1_uc021uvt.1_Missense_Mutation_p.R191W	NM_198478	NP_940880			Homo sapiens NTPase, KAP family P-loop domain containing 1 (NKPD1), mRNA.											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GACACCAGCCGCTCGATCTTC	0.617000														0			3		0	0	0.009096	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107462	107462	+	RNA	SNP	A	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chrGL000211.1:107462A>T	uc003boa.3	+	4		c.1002A>T								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAAGGGTCAATTTTTTATAT	0.294000														65			4		0	0	0.021553	0	0
FH	2271	broad.mit.edu	37	1	241663812	241663812	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr1:241663812G>A	uc001hyx.3	-	8	1378	c.1315C>T	c.(1315-1317)Cag>Tag	p.Q439*		NM_000143	NP_000134	P07954	FUMH_HUMAN	Homo sapiens fumarate hydratase (FH), nuclear gene encoding mitochondrial protein, mRNA.	439					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		GTATTGGCCTGGATTCCCACC	0.413000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer					99			74		0	0	0.048971	0	0
TTN	7273	broad.mit.edu	37	2	179598482	179598482	+	Nonsense_Mutation	SNP	C	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr2:179598482C>A	uc021vsy.1	-	49	12127	c.11902G>T	c.(11902-11904)Gga>Tga	p.G3968*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.G629*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4895							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGATTTTTCCGTCTTCTCTG	0.453000														150			11		3.07112e-06	3.85395e-06	0.080935	1	0
C11orf80	79703	broad.mit.edu	37	11	66555634	66555634	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr11:66555634T>C	uc021qmd.1	+	4	534	c.527T>C	c.(526-528)aTa>aCa	p.I176T	C11orf80_uc010rpk.2_Missense_Mutation_p.I10T	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	Homo sapiens chromosome 11 open reading frame 80 (C11orf80), mRNA.	21										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						CACACAGAAATACAGTCCATA	0.433000														37			3		0	0	0.004672	0	0
ABCB6	10058	broad.mit.edu	37	2	220074990	220074990	+	Silent	SNP	G	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr2:220074990G>A	uc002vkc.2	-	17	4161	c.2382C>T	c.(2380-2382)atC>atT	p.I794I	ABCB6_uc010fwe.2_Silent_p.I748I	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA.	794	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGATGACGAGGATCTGGTCAG	0.562000														92			7		0	0	0.038147	0	0
ASH1L	55870	broad.mit.edu	37	1	155451419	155451419	+	Silent	SNP	T	C	C			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr1:155451419T>C	uc009wqq.3	-	2	1722	c.1242A>G	c.(1240-1242)gcA>gcG	p.A414A	ASH1L_uc001fkt.3_Silent_p.A414A|ASH1L_uc009wqr.1_Silent_p.A414A	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	414					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGATCAGACCTGCCAAAGGAC	0.438000														134			3		0	0	0.004672	0	0
SERPINB2	5055	broad.mit.edu	37	18	61585305	61585305	+	Missense_Mutation	SNP	T	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr18:61585305T>A	uc010xev.2	+	3	431	c.341T>A	c.(340-342)aTa>aAa	p.I114K	SERPINB2_uc010xew.2_Missense_Mutation_p.I114K	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	129					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCCAATGCGATATATGGAGAG	0.363000														35			5		0	0	0.021553	0	0
UACA	55075	broad.mit.edu	37	15	70987423	70987423	+	Silent	SNP	C	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr15:70987423C>T	uc002asr.3	-	2	338	c.234G>A	c.(232-234)aaG>aaA	p.K78K	UACA_uc010uke.2_Silent_p.K78K|UACA_uc002asq.3_Silent_p.K65K|UACA_uc010bin.1_Silent_p.K64K	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	78						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CAAGATTCCCCTTTGAGGTCA	0.353000														6			17		0	0	0.033300	0	0
SHROOM1	134549	broad.mit.edu	37	5	132161119	132161119	+	Silent	SNP	C	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr5:132161119C>T	uc003kxx.3	-	3	1519	c.714G>A	c.(712-714)ccG>ccA	p.P238P	SHROOM1_uc003kxy.2_Silent_p.P238P	NM_001172700	NP_001166171	Q2M3G4	SHRM1_HUMAN	Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.	238					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTCCCGCGCCGGCCCACCGC	0.682000														2			7		0	0	0.038147	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88890366	88890366	+	Silent	SNP	C	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr2:88890366C>T	uc002stc.4	-	4	1274	c.972G>A	c.(970-972)aaG>aaA	p.K324K		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	324					ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GTCCTCCCTTCTTACTGAATG	0.423000														136			9		0	0	0.069234	0	0
C1orf55	163859	broad.mit.edu	37	1	226180666	226180666	+	Missense_Mutation	SNP	A	C	C			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr1:226180666A>C	uc001hpu.4	-	2	329	c.276T>G	c.(274-276)atT>atG	p.I92M		NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	Homo sapiens chromosome 1 open reading frame 55 (C1orf55), mRNA.	92										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(13)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(184;0.197)					TTGTCTTCTCAATCTGAGCAC	0.428000														36			23		0	0	0.076483	0	0
NUAK2	81788	broad.mit.edu	37	1	205274389	205274389	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr1:205274389T>C	uc001hce.3	-	5	888	c.761A>G	c.(760-762)gAc>gGc	p.D254G		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	254	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GATCTTATGGTCATGCCCATC	0.572000														48			15		0	0	0.028581	0	0
PRG4	10216	broad.mit.edu	37	1	186276100	186276100	+	Missense_Mutation	SNP	A	C	C			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr1:186276100A>C	uc001gru.4	+	6	1300	c.1249A>C	c.(1249-1251)Acc>Ccc	p.T417P	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.T376P|PRG4_uc009wyl.3_Missense_Mutation_p.T324P|PRG4_uc009wym.3_Missense_Mutation_p.T283P|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	417	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T417P(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGGAGCC	0.652000														67			8		0	0	0.024245	0	0
TRPV2	51393	broad.mit.edu	37	17	16340169	16340169	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr17:16340169A>G	uc002gpy.3	+	14	2660	c.2261A>G	c.(2260-2262)aAc>aGc	p.N754S	TRPV2_uc002gpz.3_Missense_Mutation_p.N324S|C17orf76-AS1_uc021tqt.1_5'Flank|C17orf76-AS1_uc021tqu.1_5'Flank|C17orf76-AS1_uc010vwf.2_5'Flank|C17orf76-AS1_uc021tqv.1_5'Flank|C17orf76-AS1_uc021tqw.1_5'Flank|C17orf76-AS1_uc002gqb.4_5'Flank|C17orf76-AS1_uc010vwk.2_5'Flank|C17orf76-AS1_uc010vwh.2_5'Flank|C17orf76-AS1_uc021tqx.1_5'Flank|C17orf76-AS1_uc010vwi.2_5'Flank|C17orf76-AS1_uc010cpd.3_5'Flank|C17orf76-AS1_uc021tqy.1_5'Flank|C17orf76-AS1_uc002gqc.3_5'Flank|C17orf76-AS1_uc021tqz.1_5'Flank|C17orf76-AS1_uc010vwg.2_5'Flank|C17orf76-AS1_uc010vwj.2_5'Flank|C17orf76-AS1_uc002gqa.4_5'Flank|C17orf76-AS1_uc010vwo.1_5'Flank|C17orf76-AS1_uc010vwp.1_5'Flank|C17orf76-AS1_uc010vwl.1_5'Flank|C17orf76-AS1_uc010vwm.1_5'Flank|C17orf76-AS1_uc010vwn.1_5'Flank|C17orf76-AS1_uc021tra.1_5'Flank|C17orf76-AS1_uc021trb.1_5'Flank|C17orf76-AS1_uc021trc.1_5'Flank|C17orf76-AS1_uc010cpe.2_5'Flank|SNORD49B_uc010cpf.3_5'Flank	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	754					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCTGAGGAAAACTATGTGCCC	0.562000														73			48		0	0	0.048971	0	0
KXD1	79036	broad.mit.edu	37	19	18679377	18679377	+	Missense_Mutation	SNP	A	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr19:18679377A>T	uc021uqq.1	+	5	772	c.467A>T	c.(466-468)cAg>cTg	p.Q156L	KXD1_uc021uqr.1_Missense_Mutation_p.Q156L|KXD1_uc002njo.3_Missense_Mutation_p.Q156L|KXD1_uc002njq.3_Missense_Mutation_p.Q156L	NM_001171948	NP_076974	Q9BQD3	CS050_HUMAN	Homo sapiens KxDL motif containing 1 (KXD1), transcript variant 1, mRNA.	156							protein binding										TCCCATGTCCAGCCTGGCTCC	0.657000														117			8		0	0	0.047766	0	0
ATP2B3	492	broad.mit.edu	37	X	152823737	152823737	+	Silent	SNP	C	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chrX:152823737C>T	uc004fht.1	+	14	2727	c.2601C>T	c.(2599-2601)gcC>gcT	p.A867A	ATP2B3_uc004fhs.1_Silent_p.A867A|ATP2B3_uc010nuf.1_5'Flank	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	867					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGATCGTGGCCTTCACAGGTG	0.582000														102			4		0	0	0.021553	0	0
SYT4	6860	broad.mit.edu	37	18	40853736	40853736	+	Missense_Mutation	SNP	C	G	G			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr18:40853736C>G	uc002law.3	-	1	1027	c.658G>C	c.(658-660)Gat>Cat	p.D220H	SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Missense_Mutation_p.D202H	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	220	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AAGGTCTCATCAAAAGCTGGA	0.403000														30			28		0	0	0.030593	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517503	158517503	+	Silent	SNP	A	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr1:158517503A>T	uc010pil.2	-	0	393	c.393T>A	c.(391-393)atT>atA	p.I131I		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GTGGATTACAAATGGCTACAT	0.473000														82			8		0	0	0.038147	0	0
TTC25	83538	broad.mit.edu	37	17	40101470	40101470	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr17:40101470T>C	uc002hyj.4	+	7	1228	c.1139T>C	c.(1138-1140)aTt>aCt	p.I380T	TTC25_uc021txp.1_Silent_p.L236L	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	Homo sapiens tetratricopeptide repeat domain 25 (TTC25), mRNA.	380						cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				CAGCAAGCCATTGACACGTGA	0.458000														10			10		0	0	0.093190	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629374	9629374	+	Silent	SNP	G	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr5:9629374G>A	uc003jem.1	-	0	1090	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	257					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						ACAGAAAGATGAACCTTCTGA	0.378000														68			5		0	0	0.021553	0	0
FAM86DP	692099	broad.mit.edu	37	3	75476630	75476630	+	Silent	SNP	T	G	G			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr3:75476630T>G	uc003dpp.4	-	5	794	c.435A>C	c.(433-435)gtA>gtC	p.V145V	FAM86DP_uc003dps.4_Intron|FAM86DP_uc003dpq.4_Silent_p.V53V|FAM86DP_uc003dpr.4_Intron					Homo sapiens family with sequence similarity 86, member D, pseudogene (FAM86DP), non-coding RNA.									p.V229V(2)									GGACCGTCGCTACGTCCCAGT	0.582000														29			6		0	0	0.029380	0	0
EPHB6	2051	broad.mit.edu	37	7	142561393	142561393	+	Silent	SNP	A	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr7:142561393A>T	uc011kst.2	+	5	892	c.105A>T	c.(103-105)gtA>gtT	p.V35V	EPHB6_uc011ksu.2_Silent_p.V35V|EPHB6_uc003wbs.3_Intron|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Intron	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	35						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGGCAGAGGTATTGCTGGACA	0.582000														36			30		0	0	0.050027	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720783	140720783	+	Missense_Mutation	SNP	T	G	G			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr5:140720783T>G	uc003ljk.2	+	0	2430	c.2245T>G	c.(2245-2247)Ttc>Gtc	p.F749V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dao.2_Missense_Mutation_p.F749V|PCDHGC5_uc011dap.2_5'Flank	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	759					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTCGGGCTTTCCTGCAGAC	0.627000														100			3		0	0	0.004672	0	0
IPO8	10526	broad.mit.edu	37	12	30787080	30787080	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr12:30787080T>C	uc001rjd.3	-	22	3184	c.2836A>G	c.(2836-2838)Agt>Ggt	p.S946G	IPO8_uc010sjt.2_Missense_Mutation_p.S741G|IPO8_uc001rje.1_Missense_Mutation_p.S435G	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	946					intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AGTGGAGTACTGAACCCCTCA	0.403000														57			5		0	0	0.014758	0	0
KIAA1984	84960	broad.mit.edu	37	9	139694856	139694856	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr9:139694856G>A	uc004cjf.3	+	4	514	c.454G>A	c.(454-456)Gag>Aag	p.E152K		NM_001039374	NP_001034463	Q5T5S1	K1984_HUMAN	Homo sapiens KIAA1984 (KIAA1984), mRNA.	152										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCGCCAGCTGGAGAACAACAT	0.602000														11			6		0	0	0.021553	0	0
ICA1L	130026	broad.mit.edu	37	2	203693626	203693626	+	Missense_Mutation	SNP	T	G	G			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr2:203693626T>G	uc002uzh.1	-	2	271	c.107A>C	c.(106-108)aAa>aCa	p.K36T	ICA1L_uc002uzi.1_Missense_Mutation_p.K36T|ICA1L_uc021vvi.1_Non-coding_Transcript|ICA1L_uc002uzj.3_Missense_Mutation_p.K36T|ICA1L_uc002uzk.1_Missense_Mutation_p.K36T	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA.	36										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCCTCTTTTTTTCCTGTTGC	0.388000														136			4		0	0	0.009096	0	0
SESTD1	91404	broad.mit.edu	37	2	179986590	179986590	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr2:179986590G>A	uc002uni.4	-	12	1499	c.1349C>T	c.(1348-1350)tCc>tTc	p.S450F	SESTD1_uc002unh.4_5'UTR	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.	450					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATAGGCCCAGGATGCCTGATT	0.393000														54			23		0	0	0.076483	0	0
SYT4	6860	broad.mit.edu	37	18	40853736	40853736	+	Missense_Mutation	SNP	C	G	G			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr18:40853736C>G	uc002law.3	-	1	1027	c.658G>C	c.(658-660)Gat>Cat	p.D220H	SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Missense_Mutation_p.D202H	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	220	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AAGGTCTCATCAAAAGCTGGA	0.403000														30			28		0	0	0.030593	0	0
AK310441	0	broad.mit.edu	37	1	148889678	148889678	+	RNA	SNP	C	T	T	rs4950650		TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr1:148889678C>T	uc009wkv.1	+	6		c.765C>T								Homo sapiens cDNA, FLJ17483.																		ACCCTATATGCCTGCGTCTAA	0.398000														56			16		0	0	0.055883	0	0
CNOT10	25904	broad.mit.edu	37	3	32766999	32766999	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr3:32766999G>A	uc011axj.1	+	8	1177	c.1100G>A	c.(1099-1101)aGc>aAc	p.S367N	CNOT10_uc011axi.1_Missense_Mutation_p.S79N|CNOT10_uc003cfc.1_Missense_Mutation_p.S307N|CNOT10_uc003cfd.1_Missense_Mutation_p.S306N|CNOT10_uc003cfe.1_Missense_Mutation_p.S307N|CNOT10_uc010hfv.1_Non-coding_Transcript|CNOT10_uc010hfw.1_Missense_Mutation_p.S2N	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 10 (CNOT10), mRNA.	307					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TTTGCCATGAGCAAGCACAAT	0.393000														107			6		0	0	0.029380	0	0
KIAA0753	9851	broad.mit.edu	37	17	6531560	6531560	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr17:6531560G>A	uc002gde.4	-	2	954	c.595C>T	c.(595-597)Cag>Tag	p.Q199*	KIAA0753_uc010clo.3_5'UTR|KIAA0753_uc010vte.2_5'UTR	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	199						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GGATGAGGCTGAAGTCCCGGA	0.483000														122			9		0	0	0.047766	0	0
SNRPN	6638	broad.mit.edu	37	15	25207297	25207297	+	Silent	SNP	C	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr15:25207297C>T	uc001ywu.3	+	1	177	c.51C>T	c.(49-51)caC>caT	p.H17H	SNRPN_uc001ywp.1_5'UTR|SNRPN_uc001ywq.1_5'UTR|SNRPN_uc001ywr.1_5'UTR|SNRPN_uc001yws.1_5'UTR|SNRPN_uc001ywt.1_5'UTR|SNRPN_uc001ywy.1_5'UTR|SNRPN_uc001ywz.1_Non-coding_Transcript|SNRPN_uc001yxa.1_Non-coding_Transcript|SNRPN_uc021sga.1_5'UTR	NM_022804	NP_073715	P63162	RSMN_HUMAN	Homo sapiens SNRPN upstream reading frame (SNURF), transcript variant 2, mRNA.	0					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CAGAACAGCACGTACCAGAGG	0.448000									Prader-Willi syndrome					58			5		0	0	0.014758	0	0
MYBPC2	4606	broad.mit.edu	37	19	50939282	50939282	+	Silent	SNP	G	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr19:50939282G>T	uc002psf.2	+	3	261	c.210G>T	c.(208-210)gtG>gtT	p.V70V		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	70	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGGACGCAGTGGTCGTGGCCA	0.607000														4			5		0.00116845	0.00140646	0.021553	1	0
ULK1	8408	broad.mit.edu	37	12	132395297	132395297	+	Silent	SNP	C	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr12:132395297C>T	uc001uje.3	+	11	1168	c.900C>T	c.(898-900)tcC>tcT	p.S300S		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	300	Interaction with GABARAP and GABARAPL2.|Poly-Ser.				autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCTCGGGGTCCGGCAGCAGCT	0.662000														39			24		0	0	0.108266	0	0
EVI5	7813	broad.mit.edu	37	1	93160869	93160869	+	Missense_Mutation	SNP	C	G	G			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr1:93160869C>G	uc010otf.2	-	6	1049	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q	EVI5_uc001dox.3_Missense_Mutation_p.E347Q|EVI5_uc001doy.1_5'Flank	NM_005665	NP_005656	O60447	EVI5_HUMAN	Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA.	347	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TAGCTTACCTCAGACATAAAG	0.423000														52			5		0	0	0.029380	0	0
ENPP7	339221	broad.mit.edu	37	17	77710872	77710872	+	Silent	SNP	C	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr17:77710872C>T	uc002jxa.3	+	3	1079	c.1059C>T	c.(1057-1059)caC>caT	p.H353H		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	353					negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ATGGGGAGCACGGCTTTGACA	0.607000														78			4		0	0	0.014758	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941242	13941242	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr19:13941242C>T	uc002mxh.1	+	12	2537	c.2348C>T	c.(2347-2349)tCg>tTg	p.S783L	ZSWIM4_uc010xng.1_Missense_Mutation_p.S706L	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	783							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			AAGAACCACTCGGCCTTCGAG	0.697000														130			5		0	0	0.029380	0	0
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr19:54754843A>G	uc010yer.1	-	12	1903	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607000														41			7		0	0	0.047766	0	0
SCN2A	6326	broad.mit.edu	37	2	166201262	166201262	+	Silent	SNP	C	G	G			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr2:166201262C>G	uc002udc.3	+	15	3050	c.2760C>G	c.(2758-2760)ctC>ctG	p.L920L	SCN2A_uc002udd.3_Silent_p.L920L|SCN2A_uc002ude.3_Silent_p.L920L	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	920					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATTGTGAACTCCCACGCTGGC	0.488000														141			24		0	0	0.083992	0	0
XIRP2	129446	broad.mit.edu	37	2	168105759	168105759	+	Silent	SNP	G	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr2:168105759G>A	uc002udx.3	+	8	7946	c.7857G>A	c.(7855-7857)cgG>cgA	p.R2619R	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.R2444R|XIRP2_uc010fpq.3_Silent_p.R2397R|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2444					actin cytoskeleton organization	cell junction	actin binding	p.R2619W(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTAATGCTCGGATACTAGGAG	0.458000														91			31		0	0	0.069456	0	0
UACA	55075	broad.mit.edu	37	15	70987423	70987423	+	Silent	SNP	C	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr15:70987423C>T	uc002asr.3	-	2	338	c.234G>A	c.(232-234)aaG>aaA	p.K78K	UACA_uc010uke.2_Silent_p.K78K|UACA_uc002asq.3_Silent_p.K65K|UACA_uc010bin.1_Silent_p.K64K	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	78						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CAAGATTCCCCTTTGAGGTCA	0.353000														6			17		0	0	0.033300	0	0
USH2A	7399	broad.mit.edu	37	1	216138718	216138718	+	Missense_Mutation	SNP	C	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr1:216138718C>T	uc001hku.1	-	36	7448	c.7061G>A	c.(7060-7062)cGc>cAc	p.R2354H		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2354	Fibronectin type-III 10.		R -> H (in USH2A).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.R2354H(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCATTAGGGCGAAAAGGTGC	0.403000										HNSCC(13;0.011)				86			43		0	0	0.048971	0	0
LOC728613	728613	broad.mit.edu	37	5	1632962	1632962	+	RNA	SNP	T	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr5:1632962T>A	uc003jcq.4	-	1		c.258A>T			LOC728613_uc003jcp.4_Non-coding_Transcript|LOC728613_uc003jcr.3_Non-coding_Transcript|LOC728613_uc003jcs.3_Non-coding_Transcript|LOC728613_uc010ith.1_Non-coding_Transcript|LOC728613_uc003jct.3_Non-coding_Transcript|LOC728613_uc003jcu.3_Non-coding_Transcript|LOC728613_uc003jcv.3_Non-coding_Transcript|LOC728613_uc010iti.1_Non-coding_Transcript|LOC728613_uc003jcw.2_Non-coding_Transcript					Homo sapiens programmed cell death 6 pseudogene (LOC728613), non-coding RNA.																		CCACTCACCGTTGGAGAGAGC	0.498000														39			5		0	0	0.029380	0	0
NKPD1	284353	broad.mit.edu	37	19	45656458	45656458	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr19:45656458G>A	uc010xxi.2	-	3	1237	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W	NKPD1_uc021uvt.1_Missense_Mutation_p.R191W	NM_198478	NP_940880			Homo sapiens NTPase, KAP family P-loop domain containing 1 (NKPD1), mRNA.											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GACACCAGCCGCTCGATCTTC	0.617000														0			3		0	0	0.009096	0	0
FH	2271	broad.mit.edu	37	1	241663812	241663812	+	Nonsense_Mutation	SNP	G	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr1:241663812G>A	uc001hyx.3	-	8	1378	c.1315C>T	c.(1315-1317)Cag>Tag	p.Q439*		NM_000143	NP_000134	P07954	FUMH_HUMAN	Homo sapiens fumarate hydratase (FH), nuclear gene encoding mitochondrial protein, mRNA.	439					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		GTATTGGCCTGGATTCCCACC	0.413000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer					99			74		0	0	0.048971	0	0
TTN	7273	broad.mit.edu	37	2	179598482	179598482	+	Nonsense_Mutation	SNP	C	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr2:179598482C>A	uc021vsy.1	-	49	12127	c.11902G>T	c.(11902-11904)Gga>Tga	p.G3968*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.G629*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4895							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGATTTTTCCGTCTTCTCTG	0.453000														150			11		3.07112e-06	3.76646e-06	0.080935	1	0
C11orf80	79703	broad.mit.edu	37	11	66555634	66555634	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr11:66555634T>C	uc021qmd.1	+	4	534	c.527T>C	c.(526-528)aTa>aCa	p.I176T	C11orf80_uc010rpk.2_Missense_Mutation_p.I10T	NM_024650	NP_078926	Q8N6T0	CK080_HUMAN	Homo sapiens chromosome 11 open reading frame 80 (C11orf80), mRNA.	21										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						CACACAGAAATACAGTCCATA	0.433000														37			3		0	0	0.004672	0	0
ABCB6	10058	broad.mit.edu	37	2	220074990	220074990	+	Silent	SNP	G	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr2:220074990G>A	uc002vkc.2	-	17	4161	c.2382C>T	c.(2380-2382)atC>atT	p.I794I	ABCB6_uc010fwe.2_Silent_p.I748I	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA.	794	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGATGACGAGGATCTGGTCAG	0.562000														92			7		0	0	0.038147	0	0
ASH1L	55870	broad.mit.edu	37	1	155451419	155451419	+	Silent	SNP	T	C	C			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr1:155451419T>C	uc009wqq.3	-	2	1722	c.1242A>G	c.(1240-1242)gcA>gcG	p.A414A	ASH1L_uc001fkt.3_Silent_p.A414A|ASH1L_uc009wqr.1_Silent_p.A414A	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	414					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGATCAGACCTGCCAAAGGAC	0.438000														134			3		0	0	0.004672	0	0
SERPINB2	5055	broad.mit.edu	37	18	61585305	61585305	+	Missense_Mutation	SNP	T	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr18:61585305T>A	uc010xev.2	+	3	431	c.341T>A	c.(340-342)aTa>aAa	p.I114K	SERPINB2_uc010xew.2_Missense_Mutation_p.I114K	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	129					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCCAATGCGATATATGGAGAG	0.363000														35			5		0	0	0.021553	0	0
SHROOM1	134549	broad.mit.edu	37	5	132161119	132161119	+	Silent	SNP	C	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr5:132161119C>T	uc003kxx.3	-	3	1519	c.714G>A	c.(712-714)ccG>ccA	p.P238P	SHROOM1_uc003kxy.2_Silent_p.P238P	NM_001172700	NP_001166171	Q2M3G4	SHRM1_HUMAN	Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.	238					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTCCCGCGCCGGCCCACCGC	0.682000														2			7		0	0	0.038147	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88890366	88890366	+	Silent	SNP	C	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr2:88890366C>T	uc002stc.4	-	4	1274	c.972G>A	c.(970-972)aaG>aaA	p.K324K		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	324					ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GTCCTCCCTTCTTACTGAATG	0.423000														136			9		0	0	0.069234	0	0
C1orf55	163859	broad.mit.edu	37	1	226180666	226180666	+	Missense_Mutation	SNP	A	C	C			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr1:226180666A>C	uc001hpu.4	-	2	329	c.276T>G	c.(274-276)atT>atG	p.I92M		NM_152608	NP_689821	Q6IQ49	CA055_HUMAN	Homo sapiens chromosome 1 open reading frame 55 (C1orf55), mRNA.	92										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(13)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(184;0.197)					TTGTCTTCTCAATCTGAGCAC	0.428000														36			23		0	0	0.076483	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118544	118544	+	RNA	SNP	A	G	G			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chrGL000205.1:118544A>G	uc002kgk.4	+	0		c.1922A>G								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGATAATCTAAGAGAAAAAGA	0.408000														52			7		0	0	0.029380	0	0
NUAK2	81788	broad.mit.edu	37	1	205274389	205274389	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr1:205274389T>C	uc001hce.3	-	5	888	c.761A>G	c.(760-762)gAc>gGc	p.D254G		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	254	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GATCTTATGGTCATGCCCATC	0.572000														48			15		0	0	0.028581	0	0
TRPV2	51393	broad.mit.edu	37	17	16340169	16340169	+	Missense_Mutation	SNP	A	G	G			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr17:16340169A>G	uc002gpy.3	+	14	2660	c.2261A>G	c.(2260-2262)aAc>aGc	p.N754S	TRPV2_uc002gpz.3_Missense_Mutation_p.N324S|C17orf76-AS1_uc021tqt.1_5'Flank|C17orf76-AS1_uc021tqu.1_5'Flank|C17orf76-AS1_uc010vwf.2_5'Flank|C17orf76-AS1_uc021tqv.1_5'Flank|C17orf76-AS1_uc021tqw.1_5'Flank|C17orf76-AS1_uc002gqb.4_5'Flank|C17orf76-AS1_uc010vwk.2_5'Flank|C17orf76-AS1_uc010vwh.2_5'Flank|C17orf76-AS1_uc021tqx.1_5'Flank|C17orf76-AS1_uc010vwi.2_5'Flank|C17orf76-AS1_uc010cpd.3_5'Flank|C17orf76-AS1_uc021tqy.1_5'Flank|C17orf76-AS1_uc002gqc.3_5'Flank|C17orf76-AS1_uc021tqz.1_5'Flank|C17orf76-AS1_uc010vwg.2_5'Flank|C17orf76-AS1_uc010vwj.2_5'Flank|C17orf76-AS1_uc002gqa.4_5'Flank|C17orf76-AS1_uc010vwo.1_5'Flank|C17orf76-AS1_uc010vwp.1_5'Flank|C17orf76-AS1_uc010vwl.1_5'Flank|C17orf76-AS1_uc010vwm.1_5'Flank|C17orf76-AS1_uc010vwn.1_5'Flank|C17orf76-AS1_uc021tra.1_5'Flank|C17orf76-AS1_uc021trb.1_5'Flank|C17orf76-AS1_uc021trc.1_5'Flank|C17orf76-AS1_uc010cpe.2_5'Flank|SNORD49B_uc010cpf.3_5'Flank	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	754					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCTGAGGAAAACTATGTGCCC	0.562000														73			48		0	0	0.048971	0	0
KXD1	79036	broad.mit.edu	37	19	18679377	18679377	+	Missense_Mutation	SNP	A	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr19:18679377A>T	uc021uqq.1	+	5	772	c.467A>T	c.(466-468)cAg>cTg	p.Q156L	KXD1_uc021uqr.1_Missense_Mutation_p.Q156L|KXD1_uc002njo.3_Missense_Mutation_p.Q156L|KXD1_uc002njq.3_Missense_Mutation_p.Q156L	NM_001171948	NP_076974	Q9BQD3	CS050_HUMAN	Homo sapiens KxDL motif containing 1 (KXD1), transcript variant 1, mRNA.	156							protein binding										TCCCATGTCCAGCCTGGCTCC	0.657000														117			8		0	0	0.047766	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	G	G	rs10796418	by1000genomes	TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr1:16946407T>G	uc010ocf.2	-	2		c.491A>C			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		AGCAATCTCCTCACTCAGCTG	0.672000														8			4		0	0	0.014758	0	0
BC101079	0	broad.mit.edu	37	15	102292770	102292770	+	Nonsense_Mutation	SNP	C	T	T	rs149751844	by1000genomes	TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr15:102292770C>T	uc010usj.2	+	3	417	c.358C>T	c.(358-360)Cga>Tga	p.R120*	DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.																		AGCGGCGCGACGAGATGCTGC	0.597000														7			3		0	0	0.014758	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517503	158517503	+	Silent	SNP	A	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr1:158517503A>T	uc010pil.2	-	0	393	c.393T>A	c.(391-393)atT>atA	p.I131I		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GTGGATTACAAATGGCTACAT	0.473000														82			8		0	0	0.038147	0	0
TTC25	83538	broad.mit.edu	37	17	40101470	40101470	+	Missense_Mutation	SNP	T	C	C			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr17:40101470T>C	uc002hyj.4	+	7	1228	c.1139T>C	c.(1138-1140)aTt>aCt	p.I380T	TTC25_uc021txp.1_Silent_p.L236L	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	Homo sapiens tetratricopeptide repeat domain 25 (TTC25), mRNA.	380						cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				CAGCAAGCCATTGACACGTGA	0.458000														10			10		0	0	0.093190	0	0
LSS	4047	broad.mit.edu	37	21	47615617	47615617	+	Missense_Mutation	SNP	G	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr21:47615617G>A	uc002zij.3	-	18	1869	c.1790C>T	c.(1789-1791)gCc>gTc	p.A597V	LSS_uc002zil.2_Missense_Mutation_p.A597V|LSS_uc011afv.1_Missense_Mutation_p.A586V|LSS_uc002zik.2_Missense_Mutation_p.A517V	NM_001001438	NP_002331	P48449	ERG7_HUMAN	Homo sapiens lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) (LSS), transcript variant 2, mRNA.	597					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	p.A597V(2)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CCCCATACAGGCGAAGGCCTC	0.582000														16			41		0	0	0.045515	0	0
GLB1L2	89944	broad.mit.edu	37	11	134241359	134241359	+	Silent	SNP	A	G	G			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr11:134241359A>G	uc001qhp.3	+	13	1589	c.1401A>G	c.(1399-1401)acA>acG	p.T467T	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	467					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		ACTACAAGACAACGAAGATTG	0.542000														112			65		0	0	0.048971	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629374	9629374	+	Silent	SNP	G	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr5:9629374G>A	uc003jem.1	-	0	1090	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	257					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						ACAGAAAGATGAACCTTCTGA	0.378000														68			5		0	0	0.021553	0	0
ATP2B3	492	broad.mit.edu	37	X	152823737	152823737	+	Silent	SNP	C	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chrX:152823737C>T	uc004fht.1	+	14	2727	c.2601C>T	c.(2599-2601)gcC>gcT	p.A867A	ATP2B3_uc004fhs.1_Silent_p.A867A|ATP2B3_uc010nuf.1_5'Flank	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	867					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGATCGTGGCCTTCACAGGTG	0.582000														102			4		0	0	0.021553	0	0
FAM86DP	692099	broad.mit.edu	37	3	75476630	75476630	+	Silent	SNP	T	G	G			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr3:75476630T>G	uc003dpp.4	-	5	794	c.435A>C	c.(433-435)gtA>gtC	p.V145V	FAM86DP_uc003dps.4_Intron|FAM86DP_uc003dpq.4_Silent_p.V53V|FAM86DP_uc003dpr.4_Intron					Homo sapiens family with sequence similarity 86, member D, pseudogene (FAM86DP), non-coding RNA.									p.V229V(2)									GGACCGTCGCTACGTCCCAGT	0.582000														29			6		0	0	0.029380	0	0
EPHB6	2051	broad.mit.edu	37	7	142561393	142561393	+	Silent	SNP	A	T	T			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr7:142561393A>T	uc011kst.2	+	5	892	c.105A>T	c.(103-105)gtA>gtT	p.V35V	EPHB6_uc011ksu.2_Silent_p.V35V|EPHB6_uc003wbs.3_Intron|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Intron	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	35						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGGCAGAGGTATTGCTGGACA	0.582000														36			30		0	0	0.050027	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720783	140720783	+	Missense_Mutation	SNP	T	G	G			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr5:140720783T>G	uc003ljk.2	+	0	2430	c.2245T>G	c.(2245-2247)Ttc>Gtc	p.F749V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dao.2_Missense_Mutation_p.F749V|PCDHGC5_uc011dap.2_5'Flank	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	759					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTCGGGCTTTCCTGCAGAC	0.627000														100			3		0	0	0.004672	0	0
TAF1B	9014	broad.mit.edu	37	2	10059757	10059763	+	Frame_Shift_Del	DEL	GCACACT	-	-	rs59159809		TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr2:10059757_10059763delGCACACT	uc002qzz.3	+	13	1473_1479	c.1373_1379delGCACACT	c.(1372-1380)agcacactgfs	p.S458fs	TAF1B_uc002qzy.4_Frame_Shift_Del_p.S458fs|TAF1B_uc010yja.2_Frame_Shift_Del_p.S203fs|TAF1B_uc010exd.3_Frame_Shift_Del_p.S203fs	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA.	458					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAACAATTTAGCACACTGGTCGAGTCA	0.391													---	84	---	---	17	---					
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	-	-	rs3045983		TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr5:79950742_79950750delCCCCCAGCT	uc003kgz.3	+	0	449_457	c.196_204delCCCCCAGCT	c.(196-204)cccccagctdel	p.PPA66del	DHFR_uc003kgy.1_5'UTR|DHFR_uc011ctl.2_In_Frame_Del_p.11_14GAGG>G|DHFR_uc011ctm.2_Non-coding_Transcript|DHFR_uc010jap.2_Non-coding_Transcript	NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	66					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			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)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)					---	2	---	---	7	---					
KLHL35	283212	broad.mit.edu	37	11	75140917	75140917	+	Frame_Shift_Del	DEL	A	-	-			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr11:75140917delA	uc001owm.2	-	0	758	c.758delT	c.(757-759)ctgfs	p.L253fs		NM_001039548	NP_001034637	Q6PF15	KLH35_HUMAN	Homo sapiens kelch-like 35 (Drosophila) (KLHL35), mRNA.	33										lung(2)|stomach(1)	3						CACCTTCTCCAGGAAGTAAGC	0.751													---	4	---	---	2	---					
PUS3	83480	broad.mit.edu	37	11	125766029	125766029	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr11:125766029delT	uc001qcy.2	-	1	249	c.151delA	c.(151-153)actfs	p.T51fs	HYLS1_uc009zbv.3_Intron|HYLS1_uc001qcx.4_Intron	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN	Homo sapiens pseudouridylate synthase 3 (PUS3), mRNA.	51						nucleus	RNA binding			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		GCACGCTTAGTTTTTCCAGCT	0.448													---	227	---	---	18	---					
KANSL2	54934	broad.mit.edu	37	12	49062988	49062988	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr12:49062988delT	uc001rrz.2	-	4	1370	c.1326delA	c.(1324-1326)aaafs	p.K442fs	KANSL2_uc001rrw.2_Frame_Shift_Del_p.K64fs|KANSL2_uc001rrx.2_Frame_Shift_Del_p.K259fs|KANSL2_uc001rry.2_Non-coding_Transcript|SNORA2B_uc001rsc.1_5'Flank	NM_017822	NP_060292	Q9H9L4	CL041_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 2 (KANSL2), mRNA.	259																	GTCGCAGACATTTTAATCGCT	0.502													---	4	---	---	2	---					
B2M	567	broad.mit.edu	37	15	45003781	45003782	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr15:45003781_45003782delCT	uc001zuc.3	+	0	97_98	c.37_38delCT	c.(37-39)ctcfs	p.L13fs	B2M_uc010uek.1_Frame_Shift_Del_p.L13fs|B2M_uc010bdx.1_Frame_Shift_Del_p.L13fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	13					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.L15fs*41(4)|p.L13F(2)|p.L12Q(1)|p.A11fs*42(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GCTCGCGCTACTCTCTCTTTCT	0.614													---	50	---	---	10	---					
B2M	567	broad.mit.edu	37	15	45007645	45007646	+	Frame_Shift_Ins	INS	-	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr15:45007645_45007646insA	uc001zuc.3	+	1	152_153	c.92_93insA	c.(91-93)tcafs	p.S31fs	B2M_uc010uek.1_Frame_Shift_Ins_p.S31fs|B2M_uc010bdx.1_Frame_Shift_Ins_p.S31fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	31	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.Y30H(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		CAGGTTTACTCACGTCATCCAG	0.411													---	108	---	---	8	---					
STARD3	10948	broad.mit.edu	37	17	37809843	37809854	+	In_Frame_Del	DEL	CCTCCCTGGGCT	-	-			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr17:37809843_37809854delCCTCCCTGGGCT	uc002hsd.3	+	1	262_273	c.59_70delCCTCCCTGGGCT	c.(58-72)gcctccctgggctcc>gcc	p.SLGS21del	STARD3_uc010weg.2_In_Frame_Del_p.SLGS21del|STARD3_uc010wei.2_In_Frame_Del_p.SLGS21del|STARD3_uc002hse.3_In_Frame_Del_p.SLGS21del|STARD3_uc010weh.2_Non-coding_Transcript|STARD3_uc002hsf.3_5'UTR	NM_006804	NP_006795	Q14849	STAR3_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 3 (STARD3), transcript variant 1, mRNA.	21					cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCTGCCGTGGCCTCCCTGGGCTCCTCACTGTC	0.684											OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	40	---	---	20	---					
TCFL5	10732	broad.mit.edu	37	20	61490803	61490806	+	Frame_Shift_Del	DEL	AGAA	-	-			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr20:61490803_61490806delAGAA	uc002ydp.3	-	2	997_1000	c.904_907delTTCT	c.(904-909)ttctgtfs	p.F302fs	TCFL5_uc002ydo.3_Frame_Shift_Del_p.F75fs|TCFL5_uc002ydq.3_Frame_Shift_Del_p.F302fs	NM_006602	NP_006593	Q9UL49	TCFL5_HUMAN	Homo sapiens transcription factor-like 5 (basic helix-loop-helix) (TCFL5), mRNA.	302					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TGCTGATAACAGAAAGAAAATGCT	0.387													---	140	---	---	74	---					
NF2	4771	broad.mit.edu	37	22	30061052	30061052	+	Splice_Site	DEL	T	-	-			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr22:30061052delT	uc003age.4	+	9	1328	c.885_splice	c.e9+1	p.L295_splice	NF2_uc003afy.4_Splice_Site_p.L295_splice|NF2_uc003afz.4_Splice_Site_p.L212_splice|NF2_uc003agf.4_Splice_Site_p.L295_splice|NF2_uc003agb.4_Splice_Site_p.L218_splice|NF2_uc003agc.4_Splice_Site_p.L257_splice|NF2_uc003agd.4_Splice_Site|NF2_uc003agg.4_Splice_Site_p.L295_splice|NF2_uc003aga.4_Splice_Site_p.L253_splice|NF2_uc003agh.4_Splice_Site_p.L254_splice|NF2_uc003agi.4_Splice_Site_p.L212_splice|NF2_uc003agj.4_Intron|NF2_uc010gvp.3_Splice_Site	NM_000268	NP_000259	P35240	MERL_HUMAN	Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.	295	FERM.				Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.F271_L295del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GTTAATAAGCTGGTAAGTTGA	0.333			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				---	6	---	---	18	---					
CACNG2	10369	broad.mit.edu	37	22	37098492	37098492	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	b720a727-863a-4225-99b2-bb5cd03e11bd	g.chr22:37098492delT	uc003aps.2	-	0	199	c.130delA	c.(130-132)agtfs	p.S44fs	AK123632_uc003apt.1_5'Flank	NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	44					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TCACTGACACTTTTGGTCTTG	0.488													---	55	---	---	120	---					
TAF1B	9014	broad.mit.edu	37	2	10059757	10059763	+	Frame_Shift_Del	DEL	GCACACT	-	-	rs59159809		TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr2:10059757_10059763delGCACACT	uc002qzz.3	+	13	1473_1479	c.1373_1379delGCACACT	c.(1372-1380)agcacactgfs	p.S458fs	TAF1B_uc002qzy.4_Frame_Shift_Del_p.S458fs|TAF1B_uc010yja.2_Frame_Shift_Del_p.S203fs|TAF1B_uc010exd.3_Frame_Shift_Del_p.S203fs	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA.	458					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAACAATTTAGCACACTGGTCGAGTCA	0.391													---	84	---	---	17	---					
KLHL35	283212	broad.mit.edu	37	11	75140917	75140917	+	Frame_Shift_Del	DEL	A	-	-			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr11:75140917delA	uc001owm.2	-	0	758	c.758delT	c.(757-759)ctgfs	p.L253fs		NM_001039548	NP_001034637	Q6PF15	KLH35_HUMAN	Homo sapiens kelch-like 35 (Drosophila) (KLHL35), mRNA.	33										lung(2)|stomach(1)	3						CACCTTCTCCAGGAAGTAAGC	0.751													---	4	---	---	2	---					
PUS3	83480	broad.mit.edu	37	11	125766029	125766029	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr11:125766029delT	uc001qcy.2	-	1	249	c.151delA	c.(151-153)actfs	p.T51fs	HYLS1_uc009zbv.3_Intron|HYLS1_uc001qcx.4_Intron	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN	Homo sapiens pseudouridylate synthase 3 (PUS3), mRNA.	51						nucleus	RNA binding			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		GCACGCTTAGTTTTTCCAGCT	0.448													---	227	---	---	18	---					
KANSL2	54934	broad.mit.edu	37	12	49062988	49062988	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr12:49062988delT	uc001rrz.2	-	4	1370	c.1326delA	c.(1324-1326)aaafs	p.K442fs	KANSL2_uc001rrw.2_Frame_Shift_Del_p.K64fs|KANSL2_uc001rrx.2_Frame_Shift_Del_p.K259fs|KANSL2_uc001rry.2_Non-coding_Transcript|SNORA2B_uc001rsc.1_5'Flank	NM_017822	NP_060292	Q9H9L4	CL041_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 2 (KANSL2), mRNA.	259																	GTCGCAGACATTTTAATCGCT	0.502													---	4	---	---	2	---					
B2M	567	broad.mit.edu	37	15	45003781	45003782	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr15:45003781_45003782delCT	uc001zuc.3	+	0	97_98	c.37_38delCT	c.(37-39)ctcfs	p.L13fs	B2M_uc010uek.1_Frame_Shift_Del_p.L13fs|B2M_uc010bdx.1_Frame_Shift_Del_p.L13fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	13					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.L15fs*41(4)|p.L13F(2)|p.L12Q(1)|p.A11fs*42(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GCTCGCGCTACTCTCTCTTTCT	0.614													---	50	---	---	10	---					
B2M	567	broad.mit.edu	37	15	45007645	45007646	+	Frame_Shift_Ins	INS	-	A	A			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr15:45007645_45007646insA	uc001zuc.3	+	1	152_153	c.92_93insA	c.(91-93)tcafs	p.S31fs	B2M_uc010uek.1_Frame_Shift_Ins_p.S31fs|B2M_uc010bdx.1_Frame_Shift_Ins_p.S31fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	31	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.Y30H(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		CAGGTTTACTCACGTCATCCAG	0.411													---	108	---	---	8	---					
STARD3	10948	broad.mit.edu	37	17	37809843	37809854	+	In_Frame_Del	DEL	CCTCCCTGGGCT	-	-			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr17:37809843_37809854delCCTCCCTGGGCT	uc002hsd.3	+	1	262_273	c.59_70delCCTCCCTGGGCT	c.(58-72)gcctccctgggctcc>gcc	p.SLGS21del	STARD3_uc010weg.2_In_Frame_Del_p.SLGS21del|STARD3_uc010wei.2_In_Frame_Del_p.SLGS21del|STARD3_uc002hse.3_In_Frame_Del_p.SLGS21del|STARD3_uc010weh.2_Non-coding_Transcript|STARD3_uc002hsf.3_5'UTR	NM_006804	NP_006795	Q14849	STAR3_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 3 (STARD3), transcript variant 1, mRNA.	21					cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCTGCCGTGGCCTCCCTGGGCTCCTCACTGTC	0.684											OREG0024381	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	40	---	---	20	---					
TCFL5	10732	broad.mit.edu	37	20	61490803	61490806	+	Frame_Shift_Del	DEL	AGAA	-	-			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr20:61490803_61490806delAGAA	uc002ydp.3	-	2	997_1000	c.904_907delTTCT	c.(904-909)ttctgtfs	p.F302fs	TCFL5_uc002ydo.3_Frame_Shift_Del_p.F75fs|TCFL5_uc002ydq.3_Frame_Shift_Del_p.F302fs	NM_006602	NP_006593	Q9UL49	TCFL5_HUMAN	Homo sapiens transcription factor-like 5 (basic helix-loop-helix) (TCFL5), mRNA.	302					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TGCTGATAACAGAAAGAAAATGCT	0.387													---	140	---	---	74	---					
NF2	4771	broad.mit.edu	37	22	30061052	30061052	+	Splice_Site	DEL	T	-	-			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr22:30061052delT	uc003age.4	+	9	1328	c.885_splice	c.e9+1	p.L295_splice	NF2_uc003afy.4_Splice_Site_p.L295_splice|NF2_uc003afz.4_Splice_Site_p.L212_splice|NF2_uc003agf.4_Splice_Site_p.L295_splice|NF2_uc003agb.4_Splice_Site_p.L218_splice|NF2_uc003agc.4_Splice_Site_p.L257_splice|NF2_uc003agd.4_Splice_Site|NF2_uc003agg.4_Splice_Site_p.L295_splice|NF2_uc003aga.4_Splice_Site_p.L253_splice|NF2_uc003agh.4_Splice_Site_p.L254_splice|NF2_uc003agi.4_Splice_Site_p.L212_splice|NF2_uc003agj.4_Intron|NF2_uc010gvp.3_Splice_Site	NM_000268	NP_000259	P35240	MERL_HUMAN	Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.	295	FERM.				Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.F271_L295del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GTTAATAAGCTGGTAAGTTGA	0.333			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				---	6	---	---	18	---					
CACNG2	10369	broad.mit.edu	37	22	37098492	37098492	+	Frame_Shift_Del	DEL	T	-	-			TCGA-GL-7966-01A-11D-2201-08	TCGA-GL-7966-11A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458fa5d9-d07d-4869-8e72-52b7318d7810	f8526df7-b6fd-49f9-8a28-4803a8ad87e2	g.chr22:37098492delT	uc003aps.2	-	0	199	c.130delA	c.(130-132)agtfs	p.S44fs	AK123632_uc003apt.1_5'Flank	NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	44					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TCACTGACACTTTTGGTCTTG	0.488													---	55	---	---	120	---					
