Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FRG1B	284802	broad.mit.edu	37	20	29628282	29628282	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:29628282G>A	uc010ztl.1	+	2	226	c.194G>A	c.(193-195)gGg>gAg	p.G65E	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.G17E					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I64T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATGAAGCAGGGGACATAGAA	0.373000													4	70					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121238999	121238999	+	Silent	SNP	T	T	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:121238999T>A	uc003yox.3	+	15	2263	c.1998T>A	c.(1996-1998)acT>acA	p.T666T	COL14A1_uc003yoy.3_Silent_p.T344T	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	666	Fibronectin type-III 5.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGGGGAAGACTGAGGAGGTGA	0.438000													6	48					0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127721495	127721495	+	Silent	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:127721495C>T	uc003vmi.3	+	17	2278	c.2052C>T	c.(2050-2052)ccC>ccT	p.P684P	SND1_uc010lle.3_Silent_p.P337P|MIR593_uc022akw.1_5'Flank	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	684					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GCTACAAGCCCGTGTTTGTGA	0.597000													17	19					0	0	1	0	0
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	Missense_Mutation	SNP	G	G	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr12:13028751G>C	uc010sho.2	+	0	341	c.319G>C	c.(319-321)Ggc>Cgc	p.G107R						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		GGTGTTTGACGGCATCCCACC	0.612000													6	32					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14552718	14552718	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:14552718C>T	uc021wtn.1	-	17	2176	c.2176G>A	c.(2176-2178)Gag>Aag	p.E726K	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	630	PDZ 6.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						ACCAGGTCCTCGCACTGCCGC	0.617000													12	28					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145006361	145006361	+	Missense_Mutation	SNP	C	C	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:145006361C>G	uc003zaf.1	-	16	2600	c.2430G>C	c.(2428-2430)aaG>aaC	p.K810N	PLEC_uc003zab.1_Missense_Mutation_p.K673N|PLEC_uc003zac.1_Missense_Mutation_p.K677N|PLEC_uc003zad.2_Missense_Mutation_p.K673N|PLEC_uc003zae.1_Missense_Mutation_p.K641N|PLEC_uc003zag.1_Missense_Mutation_p.K651N|PLEC_uc003zah.2_Missense_Mutation_p.K659N|PLEC_uc003zaj.2_Missense_Mutation_p.K700N	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	810	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTTGGAGCTCCTTGATCTTCT	0.711000													44	29					0	0	1	0	0
SPATS2	65244	broad.mit.edu	37	12	49912901	49912901	+	Missense_Mutation	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr12:49912901A>G	uc001rud.2	+	10	1933	c.944A>G	c.(943-945)aAg>aGg	p.K315R	SPATS2_uc001rue.2_Non-coding_Transcript|SPATS2_uc009zli.1_Missense_Mutation_p.K315R|SPATS2_uc001ruf.2_Missense_Mutation_p.K315R	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2 (SPATS2), mRNA.	315						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CTTCTAAAGAAGATGACTCAT	0.398000													14	15					0	0	1	0	0
STMN4	81551	broad.mit.edu	37	8	27099994	27099994	+	Missense_Mutation	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:27099994A>G	uc011lak.2	-	2	143	c.29T>C	c.(28-30)aTg>aCg	p.M10T	STMN4_uc003xfj.3_Missense_Mutation_p.M10T|STMN4_uc011lai.2_Missense_Mutation_p.M10T|STMN4_uc011laj.2_Missense_Mutation_p.M1T|STMN4_uc003xfk.3_Missense_Mutation_p.M10T|STMN4_uc010luo.3_Missense_Mutation_p.M10T	NM_030795	NP_110422	Q9H169	STMN4_HUMAN	Homo sapiens stathmin-like 4 (STMN4), mRNA.	10					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		GAGCTCCTTCATCTTCTCTTT	0.572000													15	14					0	0	1	0	0
OMP	4975	broad.mit.edu	37	11	76813927	76813927	+	Silent	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:76813927G>A	uc010rsk.2	+	0	42	c.42G>A	c.(40-42)ccG>ccA	p.P14P	CAPN5_uc001oxx.3_Intron|CAPN5_uc009yup.3_Intron|CAPN5_uc009yuq.3_Intron|CAPN5_uc001oxy.3_Intron	NM_006189	NP_006180	P47874	OMP_HUMAN	Homo sapiens olfactory marker protein (OMP), mRNA.	14					sensory perception of smell|synaptic transmission					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TGGACATGCCGCTGGTCCTGG	0.692000													21	14					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85972083	85972083	+	Missense_Mutation	SNP	G	G	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr10:85972083G>T	uc001kcv.3	+	14	1807	c.1702G>T	c.(1702-1704)Gat>Tat	p.D568Y	CDHR1_uc001kcw.3_Missense_Mutation_p.D568Y|CDHR1_uc009xst.3_Missense_Mutation_p.D272Y|CDHR1_uc001kcx.3_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	568	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CACACTGCTGGATGTCAATGA	0.517000													46	95					0	0	1	0	0
FCHO2	115548	broad.mit.edu	37	5	72364497	72364497	+	Silent	SNP	T	T	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:72364497T>G	uc003kcl.3	+	18	1586	c.1470T>G	c.(1468-1470)ccT>ccG	p.P490P	FCHO2_uc011csl.2_Silent_p.P457P|FCHO2_uc010izb.3_5'UTR|FCHO2_uc011csn.2_5'UTR	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	Homo sapiens FCH domain only 2 (FCHO2), transcript variant 1, mRNA.	490	Ser-rich.									cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TCAGCCCACCTGTAACTTCCA	0.413000													38	23					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13663415	13663415	+	Splice_Site	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:13663415G>A	uc011avc.2	+	9	2678	c.2296_splice	c.e9+1	p.D766_splice	FBLN2_uc011auz.2_Intron|FBLN2_uc011avb.2_Intron|FBLN2_uc011ava.2_Splice_Site_p.D766_splice	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	764	EGF-like 4; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GAAGTGCGTGGGTAAGCCAGG	0.617000													9	14					0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28618359	28618359	+	Missense_Mutation	SNP	A	A	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:28618359A>T	uc002dqn.3	-	7	1277	c.685T>A	c.(685-687)Tcc>Acc	p.S229T	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Missense_Mutation_p.S138T|SULT1A1_uc002dqi.3_Missense_Mutation_p.S138T|SULT1A1_uc002dqk.3_Missense_Mutation_p.S138T|SULT1A1_uc002dql.3_Missense_Mutation_p.S138T|SULT1A1_uc002dqm.3_Missense_Mutation_p.S60T|SULT1A1_uc002dqp.3_Missense_Mutation_p.S138T	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	138					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						TGGTAGTAGGAAACTGCCACA	0.582000													36	119					0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45556036	45556036	+	Silent	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr18:45556036C>T	uc010dnv.3	-	3	1957	c.1521G>A	c.(1519-1521)gcG>gcA	p.A507A	ZBTB7C_uc002ldb.3_Silent_p.A485A|ZBTB7C_uc010dnu.3_Silent_p.A494A|ZBTB7C_uc010dnw.3_Silent_p.A485A	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	485						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CGGCCCTCCACGCAGCAGGCT	0.736000													6	1					0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102661492	102661492	+	Missense_Mutation	SNP	C	C	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:102661492C>G	uc001phi.2	-	8	1385	c.1242G>C	c.(1240-1242)atG>atC	p.M414I	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.M348I	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	414	Hemopexin-like 3.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		CATGTGCTATCATTTTGGGAT	0.383000													28	19					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:29628243T>C	uc010ztl.1	+	2	187	c.155T>C	c.(154-156)tTg>tCg	p.L52S	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.L4S					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													4	99					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692036	20692036	+	Silent	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr14:20692036A>G	uc010tlc.2	+	0	168	c.168A>G	c.(166-168)acA>acG	p.T56T		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		ATCTCCTGACACTGCTAGGGA	0.478000													15	60					0	0	1	0	0
DOC2A	8448	broad.mit.edu	37	16	30021385	30021385	+	Silent	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:30021385G>A	uc002dvn.3	-	1	350	c.159C>T	c.(157-159)ccC>ccT	p.P53P	BOLA2_uc010bzb.1_Intron|DOC2A_uc010vef.2_Intron|DOC2A_uc002dvo.3_Silent_p.P53P|DOC2A_uc002dvp.3_Silent_p.P53P|DOC2A_uc002dvq.3_Silent_p.P53P	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	Homo sapiens double C2-like domains, alpha (DOC2A), mRNA.	53	Interaction with UNC13D and DYNLT1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						CCAGATgggcgggggcctccc	0.721000													31	22					0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184071184	184071184	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:184071184C>T	uc003foi.3	-	16	2006	c.1882G>A	c.(1882-1884)Gag>Aag	p.E628K	CLCN2_uc003foh.3_Missense_Mutation_p.E152K|CLCN2_uc010hya.2_Missense_Mutation_p.E611K|CLCN2_uc011brl.2_Missense_Mutation_p.E628K|CLCN2_uc011brm.2_Missense_Mutation_p.E584K	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	628	CBS 1.					chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TGTGAACGCTCGATGGAGCCC	0.632000													14	36					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16149958	16149958	+	Missense_Mutation	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:16149958A>G	uc010bvi.3	+	11	1658	c.1483A>G	c.(1483-1485)Atg>Gtg	p.M495V	ABCC1_uc010bvj.3_Missense_Mutation_p.M495V|ABCC1_uc010bvk.3_Missense_Mutation_p.M495V|ABCC1_uc010bvl.3_Missense_Mutation_p.M495V|ABCC1_uc010bvm.3_Missense_Mutation_p.M495V|ABCC1_uc002del.4_Missense_Mutation_p.M379V|ABCC1_uc010bvn.3_Missense_Mutation_p.M358V|ABCC1_uc021tdq.1_Missense_Mutation_p.M23V|ABCC1_uc021tdr.1_Missense_Mutation_p.M1V	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	495	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.M495T(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGTGGCCCACATGAAGAGCAA	0.473000													11	41					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20682948	20682948	+	Silent	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:20682948C>T	uc010kuh.3	+	5	693	c.456C>T	c.(454-456)atC>atT	p.I152I		NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	336	ABC transporter 1.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CACAGGACATCGGCTGGTTTG	0.398000													5	37					0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	34494	34494	+	Splice_Site	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chrGL000241.1:34494C>T	uc011mgv.2	-	3		c.389_splice	c.e3+1							Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		AACTGACTCACCAACATATCA	0.279000													6	89					0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5141029	5141029	+	Silent	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr10:5141029A>G	uc001ihr.3	+	3	588	c.405A>G	c.(403-405)ggA>ggG	p.G135G	AKR1C3_uc021pml.1_Silent_p.G135G|AKR1C3_uc010qap.2_Silent_p.G112G|AKR1C3_uc001ihu.3_Silent_p.G135G	NM_003739	NP_003730	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA.	135					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	ATGAAAATGGAAAAGTAATAT	0.413000													8	13					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52366244	52366244	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:52366244C>T	uc011bef.2	+	7	1381	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C	DNAH1_uc003ddt.1_Missense_Mutation_p.R374C	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	374	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTTCGCACAACGTGTGGTCCA	0.602000													12	14					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234541826	234541826	+	Missense_Mutation	SNP	G	G	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:234541826G>C	uc001hwd.3	-	23	3812	c.3812C>G	c.(3811-3813)gCc>gGc	p.A1271G		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	1271					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AACTATAAGGGCTTGCTTCAG	0.363000													13	46					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77171011	77171011	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr18:77171011G>A	uc010xfg.2	+	1	1189	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	NFATC1_uc002lnc.1_Missense_Mutation_p.V246I|NFATC1_uc010xff.1_Missense_Mutation_p.V246I|NFATC1_uc002lnd.3_Missense_Mutation_p.V246I|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Missense_Mutation_p.V246I|NFATC1_uc010xfi.1_Missense_Mutation_p.V233I|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Missense_Mutation_p.V233I|NFATC1_uc002lng.3_Missense_Mutation_p.V233I|NFATC1_uc010xfk.2_Missense_Mutation_p.V233I	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	246	3 X SP repeats.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.V233I(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCGCGCCAGCGTCACTGAGGA	0.711000													25	8					0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75265354	75265354	+	Silent	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr14:75265354C>T	uc001xqj.4	+	4	3478	c.3354C>T	c.(3352-3354)ggC>ggT	p.G1118G	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	923	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGAGGGCTGGCAGTCAGGAGA	0.642000													29	23					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24537572	24537572	+	Missense_Mutation	SNP	A	A	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:24537572A>C	uc003jgr.2	-	2	949	c.443T>G	c.(442-444)aTc>aGc	p.I148S	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	148	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATGAATTTTGATCACAAACTC	0.418000										HNSCC(23;0.051)			27	108					0	0	1	0	0
OR14I1	401994	broad.mit.edu	37	1	248844931	248844931	+	Missense_Mutation	SNP	T	T	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:248844931T>G	uc001ieu.1	-	0	675	c.675A>C	c.(673-675)agA>agC	p.R225S		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CTGAAGGGATTCTGAGCACCG	0.488000													16	44					0	0	1	0	0
CCDC22	28952	broad.mit.edu	37	X	49098537	49098537	+	Missense_Mutation	SNP	C	C	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chrX:49098537C>G	uc004dnd.2	+	2	454	c.284C>G	c.(283-285)cCt>cGt	p.P95R	CCDC22_uc011mna.2_Missense_Mutation_p.P95R	NM_014008	NP_054727	O60826	CCD22_HUMAN	Homo sapiens coiled-coil domain containing 22 (CCDC22), mRNA.	95										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CCCAGTGAGCCTGACCTCCGA	0.607000													31	8					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6228223	6228223	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:6228223C>T	uc001amb.2	-	1	305	c.194G>A	c.(193-195)cGg>cAg	p.R65Q		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	65	Lys-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTTCTTCTTCCGCTTCCCTTT	0.592000													18	80					0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703549	55703549	+	Missense_Mutation	SNP	C	C	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:55703549C>A	uc010ris.2	-	0	328	c.328G>T	c.(328-330)Gca>Tca	p.A110S		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCTGTATCTGCAAAAGTACAG	0.438000													9	22					0	0	1	0	0
CTSZ	1522	broad.mit.edu	37	20	57571752	57571752	+	Missense_Mutation	SNP	C	C	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:57571752C>A	uc002yai.2	-	4	869	c.743G>T	c.(742-744)tGg>tTg	p.W248L	CTSZ_uc002yaj.4_Missense_Mutation_p.W248L	NM_001336	NP_001327	Q9UBR2	CATZ_HUMAN	Homo sapiens cathepsin Z (CTSZ), mRNA.	248					proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			ACTGATGCCCCACCCAGCCAC	0.448000													26	52					0	0	1	0	0
BAGE	574	broad.mit.edu	37	21	11058322	11058322	+	Splice_Site	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr21:11058322C>T	uc002yiu.1	-	3	317	c.117_splice	c.e3-1	p.L39_splice	BAGE_uc002yit.1_Splice_Site_p.L39_splice|BAGE_uc002yiv.1_Splice_Site|BAGE_uc002yiw.1_Non-coding_Transcript	NM_182484	NP_872290	Q13072	BAGE1_HUMAN	Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA.	39						extracellular region								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383000													4	104					0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39597212	39597212	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr13:39597212C>T	uc001uwy.3	-	7	1493	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	PROSER1_uc001uwz.3_Missense_Mutation_p.R185Q	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	207	Pro-rich.																TGCATGTGGTCGGCATGGAGG	0.348000													24	11					0	0	1	0	0
CRISP1	167	broad.mit.edu	37	6	49814267	49814267	+	Missense_Mutation	SNP	G	G	A	rs139194307	byFrequency	TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr6:49814267G>A	uc003ozw.2	-	4	480	c.401C>T	c.(400-402)aCg>aTg	p.T134M	CRISP1_uc003ozx.2_Missense_Mutation_p.T134M|CRISP1_uc021zaj.1_Missense_Mutation_p.T134M	NM_001131	NP_001192149	P54107	CRIS1_HUMAN	Homo sapiens cysteine-rich secretory protein 1 (CRISP1), transcript variant 1, mRNA.	134					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GTCATCATCCGTTGTTGTCCA	0.398000													14	68					0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18929042	18929042	+	Missense_Mutation	SNP	G	G	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chrX:18929042G>C	uc004cyv.4	-	19	2604	c.2174C>G	c.(2173-2175)gCc>gGc	p.A725G		NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	725					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TTTACGGTGGGCACTTAGAAC	0.358000													62	20					0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150558050	150558050	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:150558050C>T	uc003why.1	+	5	6227	c.2009C>T	c.(2008-2010)aCg>aTg	p.T670M	ABP1_uc003whz.1_Missense_Mutation_p.T670M|ABP1_uc003wia.1_Missense_Mutation_p.T689M	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	670					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	p.T670T(1)|p.V669V(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GCCTGGGTGACGGTGGGCTTC	0.602000													33	36					0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133174753	133174753	+	Silent	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr2:133174753G>A	uc002ttl.3	+	0	607	c.138G>A	c.(136-138)ctG>ctA	p.L46L		NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	46						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGGCCTTCTGGGGAACAGCG	0.517000													60	11					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2962374	2962374	+	Silent	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:2962374G>A	uc003smv.3	-	16	2497	c.2163C>T	c.(2161-2163)ggC>ggT	p.G721G		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	721	PDZ.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCTGCCTCTCGCCTCGGATGC	0.617000			Mis		DLBCL								21	45					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24771770	24771770	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:24771770G>A	uc003xed.4	+	0	497	c.464G>A	c.(463-465)cGc>cAc	p.R155H	NEFM_uc011lac.1_Missense_Mutation_p.R155H|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_3'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	155	Coil 1B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CAGGAGATCCGCGAGCTGCGC	0.652000													20	9					0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18845998	18845998	+	RNA	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr22:18845998G>A	uc002zoe.3	+	4		c.2360G>A			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		CCCGTCCTGCGCAGGCCGACA	0.607000													8	43					0	0	1	0	0
AL117485	0	broad.mit.edu	37	22	18845990	18845990	+	RNA	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr22:18845990C>T	uc002zoe.3	+	4		c.2352C>T			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		ACCTCCATCCCGTCCTGCGCA	0.582000													9	32					0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54955077	54955077	+	Silent	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chrX:54955077C>T	uc004dtq.3	+	11	2027	c.1920C>T	c.(1918-1920)cgC>cgT	p.R640R	TRO_uc004dts.3_Silent_p.R640R|TRO_uc004dtr.3_Silent_p.R640R|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Non-coding_Transcript|TRO_uc004dtv.3_Silent_p.R243R|TRO_uc011mok.2_Silent_p.R171R|TRO_uc004dtw.3_Silent_p.R243R|TRO_uc004dtx.3_Silent_p.R23R	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	640	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGCAGTACCGCGAGGCAGTGG	0.512000													37	5					0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32610504	32610504	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr6:32610504G>A	uc003obr.3	+	3	784	c.731G>A	c.(730-732)cGt>cAt	p.R244H	HLA-DQA1_uc003obs.3_Non-coding_Transcript|HLA-DQA1_uc003obt.1_3'UTR|HLA-DQA1_uc003obu.3_Non-coding_Transcript|HLA-DQA1_uc021yvy.1_5'UTR	NM_002122	NP_002113	P01909	DQA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 1 (HLA-DQA1), mRNA.	243					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CAAGGCCTGCGTTCAGTTGGT	0.537000													65	122					0	0	1	0	0
TMCO5A	145942	broad.mit.edu	37	15	38229143	38229143	+	Missense_Mutation	SNP	A	A	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr15:38229143A>C	uc001zjw.3	+	2	338	c.236A>C	c.(235-237)cAg>cCg	p.Q79P	TMCO5A_uc001zjv.1_Missense_Mutation_p.Q79P|TMCO5A_uc010bbc.1_Missense_Mutation_p.Q79P	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	79						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						AGAGCCTTGCAGGAGCTGGAG	0.488000													24	6					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20331092	20331092	+	Splice_Site	SNP	T	T	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:20331092T>C	uc002dgv.3	-	7	951	c.868_splice	c.e7-1	p.R290_splice	GP2_uc002dgw.3_Splice_Site_p.R287_splice|GP2_uc002dgx.3_Splice_Site_p.R143_splice|GP2_uc002dgy.3_Splice_Site_p.R140_splice	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	290	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTGATTTCTCTTTGGCAAAAA	0.388000													56	56					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23232558	23232558	+	Missense_Mutation	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:23232558A>G	uc009vqj.1	+	9	1989	c.1844A>G	c.(1843-1845)gAa>gGa	p.E615G	EPHB2_uc001bge.3_Missense_Mutation_p.E616G|EPHB2_uc001bgf.3_Missense_Mutation_p.E615G|EPHB2_uc010odu.2_Missense_Mutation_p.E557G	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	615					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	p.E615K(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TTTGCCAAGGAAATTGACATC	0.532000													18	15					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2541172	2541172	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:2541172C>T	uc001ajy.2	-	4	605	c.391G>A	c.(391-393)Gag>Aag	p.E131K	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	131					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GAGTTGGTCTCAGGGATCACG	0.617000													14	41					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109801533	109801533	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:109801533C>T	uc001dxa.4	+	1	3851	c.3790C>T	c.(3790-3792)Cgg>Tgg	p.R1264W		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1264	EGF-like 1; calcium-binding.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGTGCTCTTCCGGCCCATCCA	0.697000													9	18					0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247337	56247337	+	Missense_Mutation	SNP	G	G	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr17:56247337G>T	uc010wnp.2	+	0	321	c.321G>T	c.(319-321)ttG>ttT	p.L107F		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L107V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TCCACTTTTTGGGAGGTGCCA	0.527000													61	15					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122361824	122361824	+	Silent	SNP	G	G	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr12:122361824G>T	uc009zxk.3	+	2	834	c.675G>T	c.(673-675)cgG>cgT	p.R225R	WDR66_uc021rfh.1_Silent_p.R225R	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	225							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GGATCTCCCGGGAGTCACTGG	0.493000													25	52					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8684426	8684426	+	Missense_Mutation	SNP	G	G	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:8684426G>C	uc001ape.3	-	3	1149	c.339C>G	c.(337-339)atC>atG	p.I113M	RERE_uc001apf.3_Missense_Mutation_p.I113M|RERE_uc001aph.1_Missense_Mutation_p.I113M	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	113	BAH.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TCCGACTCTCGATATACACAC	0.368000													17	61					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53957934	53957934	+	Silent	SNP	T	T	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr15:53957934T>C	uc002acj.2	-	13	1839	c.1797A>G	c.(1795-1797)agA>agG	p.R599R	WDR72_uc010bfi.1_Silent_p.R599R	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	599								p.E598*(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TAATTCGTGCTCTTTCTCCTG	0.373000													23	8					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130220396	130220396	+	Missense_Mutation	SNP	A	A	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chrX:130220396A>T	uc004evz.3	+	9	1720	c.1375A>T	c.(1375-1377)Atc>Ttc	p.I459F	ARHGAP36_uc004ewa.3_Missense_Mutation_p.I447F|ARHGAP36_uc004ewb.3_Missense_Mutation_p.I428F|ARHGAP36_uc004ewc.3_Missense_Mutation_p.I323F	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	459					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTTGAGGAAGATCCAGTGAGT	0.473000													11	31					0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140630989	140630989	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:140630989C>T	uc003yvf.1	-	1	701	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	KCNK9_uc003yvg.1_Missense_Mutation_p.A213T|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	213						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TTCTGCAGGGCACCCTTGGTC	0.567000													26	159					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60927360	60927360	+	Missense_Mutation	SNP	G	G	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:60927360G>C	uc002ycq.3	-	3	692	c.625C>G	c.(625-627)Cgg>Ggg	p.R209G	LAMA5_uc021wfw.1_Missense_Mutation_p.R209G	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	209	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGTCGTCCCGTGTGATGCGC	0.687000													6	17					0	0	1	0	0
PDZD7	79955	broad.mit.edu	37	10	102783751	102783751	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr10:102783751C>T	uc001ksn.3	-	2	551	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	PDZD7_uc021pxc.1_Missense_Mutation_p.V101M|PDZD7_uc001kso.2_Missense_Mutation_p.V101M	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA.	101	PDZ 1.					cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCCCCGCGCACGCTGAAGCCC	0.582000													6	92					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60901785	60901785	+	Missense_Mutation	SNP	G	G	A	rs149220558	byFrequency	TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:60901785G>A	uc002ycq.3	-	39	5313	c.5246C>T	c.(5245-5247)cCg>cTg	p.P1749L	LAMA5_uc021wfw.1_Missense_Mutation_p.P1749L	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1749	Laminin IV type A.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGGTATGCCGGCTCCAGGAA	0.672000													26	48					0	0	1	0	0
AK311167	0	broad.mit.edu	37	9	69067873	69067873	+	RNA	SNP	A	A	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr9:69067873A>C	uc010mnq.2	+	1		c.471A>C								Homo sapiens cDNA, FLJ18209.																		aagaagaaaaagagcaaagat	0.284000													7	15					0	0	1	0	0
ARL15	54622	broad.mit.edu	37	5	53467719	53467719	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:53467719G>A	uc003jpg.1	-	1	182	c.88C>T	c.(88-90)Cga>Tga	p.R30*	ARL15_uc010ivs.1_Intron	NM_019087	NP_061960	Q9NXU5	ARL15_HUMAN	Homo sapiens ADP-ribosylation factor-like 15 (ARL15), mRNA.	30							GTP binding			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				TATTCTGGTCGTGCAGGTGGT	0.463000													25	14					0	0	1	0	0
GOLGA6L2	283685	broad.mit.edu	37	15	23690478	23690478	+	Missense_Mutation	SNP	C	C	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr15:23690478C>A	uc021sfy.1	-	1	254	c.156G>T	c.(154-156)gaG>gaT	p.E52D	GOLGA6L2_uc010ayh.2_Non-coding_Transcript					RecName: Full=Golgin subfamily A member 6-like protein 2;											breast(1)|endometrium(7)	8						AATGGCAACCCTCCGAAGTGG	0.502000													45	3					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29528441	29528441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr17:29528441C>T	uc002hgg.3	+	10	1581	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	NF1_uc002hge.2_Nonsense_Mutation_p.Q400*|NF1_uc002hgf.2_Nonsense_Mutation_p.Q400*|NF1_uc002hgh.3_Nonsense_Mutation_p.Q400*|NF1_uc010csn.2_Nonsense_Mutation_p.Q260*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	400					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(6)|p.Q400*(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGCCTGGCTCAGAATTCACC	0.308000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			43	13					0	0	1	0	0
SLC45A2	51151	broad.mit.edu	37	5	33947401	33947401	+	Missense_Mutation	SNP	G	G	A	rs149980670		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:33947401G>A	uc003jid.3	-	5	1327	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M	SLC45A2_uc003jie.3_Missense_Mutation_p.T412M	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA.	412					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.T412M(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AATAAATCCCGTCCCCAGGCC	0.488000													8	182					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50834308	50834308	+	Missense_Mutation	SNP	C	C	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr12:50834308C>G	uc001rwp.2	+	6	928	c.726C>G	c.(724-726)ttC>ttG	p.F242L	LARP4_uc001rwq.2_Missense_Mutation_p.F242L|LARP4_uc001rwt.2_Missense_Mutation_p.F242L|LARP4_uc001rws.2_Missense_Mutation_p.F241L|LARP4_uc001rwr.2_Missense_Mutation_p.F242L|LARP4_uc021qxv.1_Missense_Mutation_p.F172L|LARP4_uc009zlr.1_Missense_Mutation_p.F61L|LARP4_uc001rwm.3_Missense_Mutation_p.F242L|LARP4_uc001rwn.3_Missense_Mutation_p.F172L	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	242	RRM.						RNA binding|nucleotide binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATATCACTTTCCAGTCAGACA	0.353000													12	14					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54410111	54410111	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr19:54410111C>T	uc002qcq.1	+	17	2338	c.2056C>T	c.(2056-2058)Cgc>Tgc	p.R686C	PRKCG_uc010yeg.1_Missense_Mutation_p.R686C|PRKCG_uc010yeh.1_Missense_Mutation_p.R537C	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	686					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCCGGATGCCCGCAGCCCCAC	0.682000											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	82					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86025226	86025226	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:86025226C>T	uc003ycw.3	+	3	644	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	LRRCC1_uc010lzz.2_Non-coding_Transcript|LRRCC1_uc022awx.1_Missense_Mutation_p.R53C|LRRCC1_uc010maa.2_5'UTR|LRRCC1_uc003ycy.3_Missense_Mutation_p.R126C	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	146					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ACATAGTAATCGTATAGATAG	0.358000													33	25					0	0	1	0	0
DAK	26007	broad.mit.edu	37	11	61105561	61105561	+	Missense_Mutation	SNP	T	T	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:61105561T>G	uc001nre.3	+	2	409	c.152T>G	c.(151-153)cTg>cGg	p.L51R	DDB1_uc010rlf.1_Intron|DAK_uc009ynm.1_5'UTR	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	Homo sapiens dihydroxyacetone kinase 2 homolog (S. cerevisiae) (DAK), mRNA.	51	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CGGGTGGCACTGCTGTCGGGT	0.687000													42	32					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76712656	76712656	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr6:76712656C>T	uc003pik.1	-	11	1400	c.1270G>A	c.(1270-1272)Gga>Aga	p.G424R		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	424					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGCTCTGCTCCGTCCACTGTC	0.438000													9	8					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1616711	1616711	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:1616711C>T	uc003wpl.3	+	5	1884	c.1787C>T	c.(1786-1788)gCg>gTg	p.A596V	DLGAP2_uc003wpm.3_Missense_Mutation_p.A596V	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	675					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ATGAACCTCGCGCTGGAAACG	0.672000													11	10					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140718978	140718978	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:140718978C>T	uc003ljk.2	+	0	625	c.440C>T	c.(439-441)aCg>aTg	p.T147M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.T147M	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	147	Cadherin 2.				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)			GAAACCACTACGCCAGGATTC	0.453000													72	57					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149557897	149557897	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:149557897G>A	uc010lpn.3	+	6	1840	c.1648G>A	c.(1648-1650)Gac>Aac	p.D550N		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GATCTCCAGCGACCTCATGGC	0.512000													34	43					0	0	1	0	0
RNF121	55298	broad.mit.edu	37	11	71693851	71693851	+	Silent	SNP	A	A	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:71693851A>C	uc001ora.3	+	3	628	c.288A>C	c.(286-288)acA>acC	p.T96T	RNF121_uc001ord.3_Silent_p.T15T|RNF121_uc001orb.3_Silent_p.T64T|RNF121_uc009yst.3_Silent_p.T64T	NM_018320	NP_060790	Q9H920	RN121_HUMAN	Homo sapiens ring finger protein 121 (RNF121), transcript variant 1, mRNA.	96						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						TCTATTTCACAGTGAAGCTGC	0.512000													25	78					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121535576	121535576	+	Nonstop_Mutation	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:121535576A>G	uc003ypc.1	+	21	2760	c.2715A>G	c.(2713-2715)tgA>tgG	p.*905W		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.	0					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GCAAGAAATGATACATAATCA	0.269000													21	110					0	0	1	0	0
GOLGA6L5	374650	broad.mit.edu	37	15	85055580	85055580	+	RNA	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr15:85055580C>T	uc002bkm.2	-	5		c.980G>A								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		CCTGTTCACACAGCCTCTCCT	0.557000													4	9					0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C	rs79096325		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr17:60342186T>C	uc010woz.2	-	13		c.1943A>G								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498000													3	27					0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135745372	135745372	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr2:135745372C>T	uc002tue.1	-	6	1101	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.R244Q|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.R85Q|YSK4_uc002tui.4_Missense_Mutation_p.R374Q	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	357							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTCAGGTTTTCGCGTTTTACT	0.373000													18	11					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6643541	6643541	+	Silent	SNP	G	G	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:6643541G>T	uc001mem.1	-	20	9767	c.9366C>A	c.(9364-9366)ggC>ggA	p.G3122G	TPP1_uc001mek.1_5'Flank|TPP1_uc001mel.1_5'Flank|TPP1_uc010rar.1_5'Flank|DCHS1_uc021qdb.1_Silent_p.G77G	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	3122					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGGCCACAGCCCCCCAGGA	0.662000													6	5					0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2842328	2842328	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:2842328G>A	uc002whe.3	+	8	925	c.877G>A	c.(877-879)Ggc>Agc	p.G293S	PTPRA_uc002whj.3_5'Flank|VPS16_uc002whf.3_Missense_Mutation_p.G293S|VPS16_uc002whg.3_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	293					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GATGGTGGTGGGCGATGCACC	0.622000													6	13					0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6304157	6304157	+	Missense_Mutation	SNP	T	T	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr4:6304157T>C	uc003giy.3	+	7	2801	c.2635T>C	c.(2635-2637)Ttc>Ctc	p.F879L	WFS1_uc003gix.3_Missense_Mutation_p.F879L|WFS1_uc003giz.3_Missense_Mutation_p.F697L	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	879	Poly-Phe.				ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GAAGTTCGCCTTCGACTTCTT	0.622000													33	12					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103352425	103352425	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:103352425G>A	uc001dum.3	-	62	5150	c.4832C>T	c.(4831-4833)aCt>aTt	p.T1611I	COL11A1_uc001duk.3_Missense_Mutation_p.T795I|COL11A1_uc001dul.3_Missense_Mutation_p.T1599I|COL11A1_uc001dun.3_Missense_Mutation_p.T1560I|COL11A1_uc009weh.3_Missense_Mutation_p.T1483I	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1599	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATTGGTCTGAGTACCCATTGG	0.403000													12	38					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	rs28934573		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr17:7577559G>T	uc002gim.2	-	6	916	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_uc002gig.1_Missense_Mutation_p.S241Y|TP53_uc002gih.3_Missense_Mutation_p.S241Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.S109Y|TP53_uc010cnf.1_Missense_Mutation_p.S109Y|TP53_uc002gii.1_Missense_Mutation_p.S109Y|TP53_uc010cni.1_Missense_Mutation_p.S241Y|TP53_uc010cnh.1_Missense_Mutation_p.S241Y|TP53_uc002gij.2_Missense_Mutation_p.S241Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.S148Y|TP53_uc002gio.2_Missense_Mutation_p.S109Y|DL476309_uc021tpg.1_Splice_Site|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(163)|p.S241C(50)|p.S241Y(16)|p.S240G(14)|p.S241del(10)|p.S241A(9)|p.S240R(9)|p.S241fs*6(9)|p.0?(8)|p.N239_C242delNSSC(6)|p.S240I(6)|p.S241T(6)|p.C242fs*5(6)|p.?(5)|p.S148F(4)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.S241fs*22(3)|p.N239_S240insX(2)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.H233_C242del10(2)|p.N239_C242>S(2)|p.N239_S240delNS(2)|p.S241_G245delSCMGG(2)|p.N239_C242del(2)|p.N239_S240insN(1)|p.S148C(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.S240P(1)|p.S241_C242insX(1)|p.S240fs*23(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.S240fs*26(1)|p.S241fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCCATGCAGGAACTGTTACA	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			34	6					0	0	1	0	0
ECSIT	51295	broad.mit.edu	37	19	11624812	11624812	+	Missense_Mutation	SNP	A	A	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr19:11624812A>C	uc002msb.3	-	2	455	c.321T>G	c.(319-321)atT>atG	p.I107M	ECSIT_uc010dyc.2_Missense_Mutation_p.I107M|ECSIT_uc010dyd.3_Missense_Mutation_p.I107M|ECSIT_uc010xma.2_Intron	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	Homo sapiens ECSIT homolog (Drosophila) (ECSIT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	107					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						AGATGAAGTCAATGTGGCCCC	0.602000													66	17					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102054719	102054719	+	Silent	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr10:102054719A>G	uc001kqx.1	-	7	1901	c.1518T>C	c.(1516-1518)ttT>ttC	p.F506F	PKD2L1_uc009xwm.1_Silent_p.F459F	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	506					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGAAAGTGCTAAAGTTTTCCA	0.542000													13	32					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28264666	28264666	+	Missense_Mutation	SNP	G	G	C	rs115946459	by1000genomes	TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr6:28264666G>C	uc003nky.3	+	4	1136	c.716G>C	c.(715-717)cGg>cCg	p.R239P	PGBD1_uc003nkz.3_Missense_Mutation_p.R239P	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	239					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	p.R239Q(2)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AGTCTGACTCGGAGGAACCTC	0.507000													15	83					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117686852	117686852	+	Silent	SNP	T	T	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr6:117686852T>A	uc003pxp.1	-	18	3064	c.2865A>T	c.(2863-2865)tcA>tcT	p.S955S	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	955	Fibronectin type-III 4.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CAATCCTAAATGAAGACTCTT	0.388000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								21	4					0	0	1	0	0
FRRS1	391059	broad.mit.edu	37	1	100181217	100181217	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:100181217C>T	uc001dsh.1	-	11	1850	c.1248G>A	c.(1246-1248)atG>atA	p.M416I	MIR548D1_uc021oqn.1_5'Flank	NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA.	416	Cytochrome b561.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TGAACATGAGCATCCGATGCA	0.418000													16	16					0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122247220	122247220	+	Silent	SNP	A	A	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:122247220A>T	uc010hri.3	-	10	2701	c.2556T>A	c.(2554-2556)ccT>ccA	p.P852P	PARP9_uc003eff.4_Silent_p.P817P|PARP9_uc011bjs.2_Silent_p.P817P|PARP9_uc003efg.3_Silent_p.P397P|PARP9_uc003efi.3_Silent_p.P817P|PARP9_uc003efh.3_Silent_p.P852P	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	852					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		ATTAATCAACAGGGCTGCCAC	0.453000													28	48					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974141	16974141	+	RNA	DEL	G	G	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:16974141delG	uc009vow.2	+	4		c.951delG			CROCCP2_uc001azg.1_5'Flank|CROCCP2_uc001azi.1_5'Flank|MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TGGCTTGGCCGGGGAGGTCAG	0.667													3	5	---	---	---	---					
KCNN3	3782	broad.mit.edu	37	1	154680586	154680588	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:154680586_154680588delGCT	uc021pah.1	-	8	2419_2421	c.2105_2107delAGC	c.(2104-2109)cagctc>ctc	p.Q702del	KCNN3_uc001ffo.3_In_Frame_Del_p.Q382del|KCNN3_uc001ffp.3_In_Frame_Del_p.Q687del	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	692						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GCAGACAGGAGCTGCTGCTGCTG	0.640													9	325	---	---	---	---					
ZBTB7B	51043	broad.mit.edu	37	1	154987310	154987312	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:154987310_154987312delCTT	uc001fgj.4	+	4	561_563	c.276_278delCTT	c.(274-279)tacttc>tac	p.F93del	ZBTB7B_uc009wpa.3_In_Frame_Del_p.F59del|ZBTB7B_uc001fgk.4_In_Frame_Del_p.F59del|ZBTB7B_uc010peq.2_In_Frame_Del_p.F93del|ZBTB7B_uc001fgl.4_In_Frame_Del_p.F59del	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	59	BTB.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTAGCCACTACTTCAAGAAGCTT	0.650													233	51	---	---	---	---					
KIF14	9928	broad.mit.edu	37	1	200522651	200522653	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:200522651_200522653delTTC	uc010ppk.1	-	29	5249_5251	c.4810_4812delGAA	c.(4810-4812)gaadel	p.E1604del	KIF14_uc010ppj.1_In_Frame_Del_p.E1113del	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	1604	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATTGTTGGTGTTCTTCTTTGGTA	0.419													13	29	---	---	---	---					
GNAI2	2771	broad.mit.edu	37	3	50290582	50290582	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:50290582delT	uc003cyq.1	+	3	551	c.430delT	c.(430-432)tcafs	p.S144fs	GNAI2_uc003cyo.1_Frame_Shift_Del_p.S128fs|GNAI2_uc003cyp.1_Frame_Shift_Del_p.S128fs|GNAI2_uc010hlg.1_Frame_Shift_Del_p.S63fs|GNAI2_uc011bdn.2_Frame_Shift_Del_p.S107fs|GNAI2_uc003cyr.1_Frame_Shift_Del_p.S63fs	NM_002070	NP_002061	P04899	GNAI2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 (GNAI2), transcript variant 1, mRNA.	144					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.R143H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CTTTGGCCGCTCAAGGGAATA	0.657													13	232	---	---	---	---					
PIK3R1	5295	broad.mit.edu	37	5	67589632	67589643	+	In_Frame_Del	DEL	ATTATATGAAGA	ATTATATGAAGA	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:67589632_67589643delATTATATGAAGA	uc003jva.3	+	10	1975_1986	c.1395_1406delATTATATGAAGA	c.(1393-1407)agattatatgaagaa>aga	p.LYEE466del	PIK3R1_uc003jvc.3_In_Frame_Del_p.LYEE166del|PIK3R1_uc003jvd.3_In_Frame_Del_p.LYEE196del|PIK3R1_uc003jve.3_In_Frame_Del_p.LYEE145del|PIK3R1_uc021xzn.1_In_Frame_Del_p.LYEE103del|PIK3R1_uc011crb.2_In_Frame_Del_p.LYEE136del	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	466					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D434_Q475del(3)|p.Y463_L466del(2)|p.0?(1)|p.?(1)|p.E462_R465delEYDR(1)|p.Y467_E468insGEYDRLYE(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AATATGATAGATTATATGAAGAATATACCCGC	0.288			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			19	26	---	---	---	---					
ARAP1	116985	broad.mit.edu	37	11	72425328	72425328	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:72425328delA	uc001osu.3	-	3	737	c.548delT	c.(547-549)ttafs	p.L183fs	ARAP1_uc001osv.3_Frame_Shift_Del_p.L183fs|ARAP1_uc001osr.3_5'Flank|ARAP1_uc001oss.3_5'UTR|ARAP1_uc009yth.3_5'UTR|ARAP1_uc010rre.2_5'UTR	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	183					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						AGGGGATGATAATGATGGCAG	0.592													2	4	---	---	---	---					
ACSS3	79611	broad.mit.edu	37	12	81471942	81471942	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr12:81471942delG	uc001szl.1	+	0	134	c.43delG	c.(43-45)gggfs	p.G15fs	ACSS3_uc001szm.1_Frame_Shift_Del_p.G15fs	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	15						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CACCAGCGCCGGGGGGCTCGG	0.697													2	4	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs3832971		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr14:71275774_71275776delCCT	uc001xmm.3	-	0	113_115	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	MAP3K9_uc001xml.3_In_Frame_Del_p.E38del	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E38delE(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773													4	4	---	---	---	---					
SNRPN	6638	broad.mit.edu	37	15	25438450	25438451	+	RNA	INS	-	-	TGG			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr15:25438450_25438451insTGG	uc001yzf.1	+	2		c.328_329insTGG			SNRPN_uc001yzh.2_5'Flank|SNORD115-14_uc001yzj.1_5'Flank			P63162	RSMN_HUMAN	Homo sapiens clone Rt-11 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.						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)		ATGCGCCGGGAAGGACGTGCCC	0.545									Prader-Willi syndrome				16	493	---	---	---	---					
DQ586822	0	broad.mit.edu	37	15	84946556	84946557	+	RNA	DEL	TT	TT	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr15:84946556_84946557delTT	uc002bke.2	-	0		c.693_694delAA								Homo sapiens cDNA FLJ34196 fis, clone FCBBF3019437.																		GAAGGGAGGAtttttttttttt	0.520													2	4	---	---	---	---					
ANKRD11	29123	broad.mit.edu	37	16	89351717	89351728	+	In_Frame_Del	DEL	CGACGTGTCTGA	CGACGTGTCTGA	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:89351717_89351728delCGACGTGTCTGA	uc002fmx.1	-	8	1683_1694	c.1222_1233delTCAGACACGTCG	c.(1222-1233)tcagacacgtcgdel	p.SDTS408del	ANKRD11_uc002fmy.1_In_Frame_Del_p.SDTS408del|ANKRD11_uc002fnc.1_In_Frame_Del_p.SDTS408del|ANKRD11_uc002fnb.1_In_Frame_Del_p.SDTS365del	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	408						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCTCCTCGTCCGACGTGTCTGACAGGATACGA	0.462													22	33	---	---	---	---					
ATF5	22809	broad.mit.edu	37	19	50436066	50436068	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr19:50436066_50436068delCTT	uc010enq.2	+	3	1148_1150	c.566_568delCTT	c.(565-570)ccttct>cct	p.S190del	ATF5_uc002prd.3_In_Frame_Del_p.S190del|ATF5_uc021uyb.1_5'Flank	NM_012068	NP_036200	Q9Y2D1	ATF5_HUMAN	Homo sapiens activating transcription factor 5 (ATF5), transcript variant 1, mRNA.	190	Interaction with PTP4A1 (By similarity).|Poly-Pro.				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCCCCTCCTCCTTCTCCACCTCA	0.640													11	18	---	---	---	---					
BRSK1	84446	broad.mit.edu	37	19	55816083	55816083	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr19:55816083delC	uc002qkf.3	+	15	1687	c.1560delC	c.(1558-1560)ggcfs	p.G520fs	BRSK1_uc002qkg.3_Frame_Shift_Del_p.G504fs|BRSK1_uc002qkh.3_Frame_Shift_Del_p.G199fs	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	504	Pro-rich.				G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCCTGCCCGGCCCCCCAGGCT	0.771													3	3	---	---	---	---					
