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
AADACL4	343066	broad.mit.edu	37	1	12726232	12726232	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:12726232A>G	uc001auf.3	+	3	710	c.710A>G	c.(709-711)cAg>cGg	p.Q237R		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	237						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TCCTTTCAGCAGAACCAAAAT	0.517												
C1orf173	127254	broad.mit.edu	37	1	75038917	75038917	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:75038917G>C	uc001dgg.3	-	13	2696	c.2477C>G	c.(2476-2478)aCa>aGa	p.T826R		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	826	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTTTTTCTGTAAACTCTTC	0.582												
MAGI3	260425	broad.mit.edu	37	1	114215328	114215328	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:114215328G>A	uc001edk.3	+	17	3191	c.3010G>A	c.(3010-3012)Gca>Aca	p.A1004T	MAGI3_uc001edh.3_Missense_Mutation_p.A1029T|MAGI3_uc001edi.4_Missense_Mutation_p.A1004T|MAGI3_uc010owm.2_Missense_Mutation_p.A1029T|MAGI3_uc001edj.3_Missense_Mutation_p.A725T	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	1029					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	p.T1003T(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCTGACACCGCAGTAATTTC	0.458												
MTMR11	10903	broad.mit.edu	37	1	149906114	149906114	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:149906114G>A	uc001etl.4	-	6	904	c.653C>T	c.(652-654)aCg>aTg	p.T218M	MTMR11_uc001etm.2_Missense_Mutation_p.T146M|MTMR11_uc010pbm.1_Missense_Mutation_p.T190M|MTMR11_uc010pbn.1_Missense_Mutation_p.T60M	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	218	Myotubularin phosphatase.						phosphatase activity	p.T146M(1)|p.T218M(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CTCGTTGACCGTGCTGACCCT	0.572												
PLXNA2	5362	broad.mit.edu	37	1	208391207	208391207	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:208391207G>T	uc001hgz.3	-	1	819	c.61C>A	c.(61-63)Ctc>Atc	p.L21I	PLXNA2_uc001hha.4_Missense_Mutation_p.L75I	NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	21					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACCACTGAGAGCAGGACCACA	0.657												
PTEN	5728	broad.mit.edu	37	10	89720805	89720808	+	Frame_Shift_Del	DEL	CTTT	CTTT	-			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr10:89720805_89720808delCTTT	uc001kfb.3	+	7	1988_1991	c.956_959delCTTT	c.(955-960)actttafs	p.T319fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	319	C2 tensin-type.		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.T319fs*1(60)|p.L318fs*2(45)|p.0?(37)|p.T319fs*6(12)|p.T319fs*24(8)|p.L320*(6)|p.R55fs*1(5)|p.T319del(4)|p.L320V(2)|p.T319fs*4(2)|p.T319fs*5(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.T319_K332del(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L316fs*1(1)|p.L318fs*3(1)|p.L318F(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.T318fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTAGTACTTACTTTAACAAAAAAT	0.328		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
C10orf12	26148	broad.mit.edu	37	10	98743678	98743678	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr10:98743678G>T	uc001kmv.3	+	0	2638	c.2531G>T	c.(2530-2532)aGg>aTg	p.R844M		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	844										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGCAAGAAAAGGTCACGGAAA	0.393												
CTBP2	1488	broad.mit.edu	37	10	126727602	126727602	+	Nonsense_Mutation	SNP	T	T	A	rs76555439		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr10:126727602T>A	uc009yak.3	-	2	309	c.22A>T	c.(22-24)Aaa>Taa	p.K8*	CTBP2_uc009yal.3_Nonsense_Mutation_p.K8*|CTBP2_uc001lif.4_Nonsense_Mutation_p.K8*|CTBP2_uc001lih.4_Nonsense_Mutation_p.K8*	NM_001329	NP_001320	P56545	CTBP2_HUMAN	Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.	8					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTCTTGACTTTGTGCTTATCC	0.453												
CTBP2	1488	broad.mit.edu	37	10	126727604	126727604	+	Missense_Mutation	SNP	T	T	C	rs78849795		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr10:126727604T>C	uc009yak.3	-	2	307	c.20A>G	c.(19-21)cAc>cGc	p.H7R	CTBP2_uc009yal.3_Missense_Mutation_p.H7R|CTBP2_uc001lif.4_Missense_Mutation_p.H7R|CTBP2_uc001lih.4_Missense_Mutation_p.H7R	NM_001329	NP_001320	P56545	CTBP2_HUMAN	Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.	7					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTTGACTTTGTGCTTATCCAC	0.453												
AMPD3	272	broad.mit.edu	37	11	10514962	10514962	+	Missense_Mutation	SNP	A	A	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr11:10514962A>T	uc001min.1	+	6	1378	c.1033A>T	c.(1033-1035)Aca>Tca	p.T345S	AMPD3_uc010rbz.1_Missense_Mutation_p.T177S|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.T336S|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.T343S|AMPD3_uc009yfy.2_Missense_Mutation_p.T336S	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	336					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CATCAAGCACACATACCAGAC	0.612												
VWA5A	4013	broad.mit.edu	37	11	124007318	124007318	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr11:124007318C>G	uc001pzu.3	+	13	1771	c.1562C>G	c.(1561-1563)aCa>aGa	p.T521R	VWA5A_uc001pzt.3_Missense_Mutation_p.T521R	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	521										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTCAAATATACACTCCAGGGC	0.428												
DYRK4	8798	broad.mit.edu	37	12	4721722	4721722	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:4721722C>T	uc009zeh.1	+	13	1546	c.1504C>T	c.(1504-1506)Ctt>Ttt	p.L502F	DYRK4_uc001qmx.3_Missense_Mutation_p.L387F|DYRK4_uc001qmy.2_Missense_Mutation_p.L387F|DYRK4_uc021qtq.1_Missense_Mutation_p.L241F|DYRK4_uc001qmz.2_Missense_Mutation_p.L101F|DYRK4_uc001qna.2_Missense_Mutation_p.L24F|DYRK4_uc010ser.2_Missense_Mutation_p.L24F	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	387						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GGAACCTTCTCTTCGCATGAC	0.448												
ABCC9	10060	broad.mit.edu	37	12	21997717	21997717	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:21997717T>C	uc001rfh.3	-	24	3249	c.3229A>G	c.(3229-3231)Atc>Gtc	p.I1077V	ABCC9_uc001rfi.1_Missense_Mutation_p.I1077V	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1077	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GGTCCAAGGATTATCTTATTG	0.368												
HOXC11	3227	broad.mit.edu	37	12	54367099	54367099	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:54367099G>A	uc001sem.3	+	0	190	c.74G>A	c.(73-75)cGa>cAa	p.R25Q		NM_014212	NP_055027	O43248	HXC11_HUMAN	Homo sapiens homeobox C11 (HOXC11), mRNA.	25					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						TTCGGCGAGCGAGGGAGCTGC	0.617			T	NUP98	AML							
TMTC2	160335	broad.mit.edu	37	12	83289748	83289748	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:83289748G>A	uc001szt.3	+	2	1238	c.806G>A	c.(805-807)cGc>cAc	p.R269H	TMTC2_uc001szr.1_Missense_Mutation_p.R269H|TMTC2_uc001szs.1_Missense_Mutation_p.R269H|TMTC2_uc010suk.2_Missense_Mutation_p.R24H	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	269						endoplasmic reticulum|integral to membrane	binding	p.R269S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTCCTCACCCGCACTCTCACC	0.527												
HNF1A	6927	broad.mit.edu	37	12	121437175	121437175	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:121437175C>T	uc001tzg.3	+	7	1629	c.1606C>T	c.(1606-1608)Ctc>Ttc	p.L536F	HNF1A_uc010szn.2_Missense_Mutation_p.L536F|HNF1A_uc021rfa.1_Missense_Mutation_p.L536F|HNF1A_uc021rfb.1_Missense_Mutation_p.L408F|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	536					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTGGCCAGCCTCACGCCCAC	0.672									Hepatic Adenoma, Familial Clustering of			
DZIP1	22873	broad.mit.edu	37	13	96234520	96234520	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr13:96234520C>T	uc001vmk.3	-	22	3424	c.2572G>A	c.(2572-2574)Gtg>Atg	p.V858M	DZIP1_uc001vmj.3_Missense_Mutation_p.V334M|DZIP1_uc001vml.3_Missense_Mutation_p.V839M|DZIP1_uc001vmm.3_Non-coding_Transcript	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	858					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CAATCAGTCACAGTTACTAAG	0.408												
OR4K5	79317	broad.mit.edu	37	14	20388930	20388930	+	Silent	SNP	G	G	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr14:20388930G>T	uc010tkw.2	+	0	165	c.165G>T	c.(163-165)ctG>ctT	p.L55L		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATACCAGCCTGCACTCCCCTA	0.408												
ZFYVE26	23503	broad.mit.edu	37	14	68274502	68274502	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr14:68274502G>A	uc001xka.2	-	4	638	c.499C>T	c.(499-501)Cca>Tca	p.P167S	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.P167S|ZFYVE26_uc010tta.2_Missense_Mutation_p.P167S	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	167					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCCTGTGCTGGCTGGGGAGAC	0.607												
PSEN1	5663	broad.mit.edu	37	14	73678621	73678621	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr14:73678621G>C	uc001xnr.3	+	9	1384	c.1100G>C	c.(1099-1101)aGt>aCt	p.S367T	PSEN1_uc001xnv.3_Missense_Mutation_p.S363T|PSEN1_uc010ark.3_Missense_Mutation_p.S363T|PSEN1_uc001xnt.1_Non-coding_Transcript|PSEN1_uc001xnu.3_Non-coding_Transcript	NM_000021	NP_000012	P49768	PSN1_HUMAN	Homo sapiens presenilin 1 (PSEN1), transcript variant 1, mRNA.	367	Required for interaction with CTNNB1.				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CTTTCCAGCAGTATCCTCGCT	0.493												
OR4N3P	390539	broad.mit.edu	37	15	22414178	22414178	+	Silent	SNP	A	A	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr15:22414178A>G	uc001yuf.3	+	0	717	c.477A>G	c.(475-477)acA>acG	p.T159T	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		CCATGTCCACATGCACCACCC	0.488												
NOX5	79400	broad.mit.edu	37	15	69328195	69328195	+	Silent	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr15:69328195G>A	uc002ars.2	+	6	1148	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.P323P|NOX5_uc002arp.2_Silent_p.P351P|NOX5_uc010bid.2_Silent_p.P334P|NOX5_uc010bie.2_Silent_p.P169P|NOX5_uc002arr.2_Silent_p.P341P|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	369	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	p.P351P(1)|p.S369S(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CGGCCTCCCCGACAGGTGTCG	0.632												
OTOA	146183	broad.mit.edu	37	16	21726417	21726417	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr16:21726417G>A	uc002djh.3	+	12	1433	c.1432G>A	c.(1432-1434)Gtc>Atc	p.V478I	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.V399I|OTOA_uc002dji.3_Missense_Mutation_p.V154I|OTOA_uc010vbk.2_Missense_Mutation_p.V126I	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	492					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.V478I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GAGAAGTGCCGTCTCCCAGTA	0.577												
HERPUD1	9709	broad.mit.edu	37	16	56970643	56970643	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr16:56970643G>C	uc002eke.1	+	3	754	c.345G>C	c.(343-345)caG>caC	p.Q115H	HERPUD1_uc010vhj.1_Missense_Mutation_p.Q176H|HERPUD1_uc002ekf.1_Missense_Mutation_p.Q114H|HERPUD1_uc002ekg.1_Missense_Mutation_p.Q90H|HERPUD1_uc010cco.1_Missense_Mutation_p.Q176H|HERPUD1_uc010ccp.1_Missense_Mutation_p.Q175H|HERPUD1_uc002ekh.1_5'UTR	NM_014685	NP_055500	Q15011	HERP1_HUMAN	Homo sapiens homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 (HERPUD1), transcript variant 1, mRNA.	115						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						ATCGGGGACAGTATCCTGAGG	0.448			T	ERG	prostate							
ANKFY1	51479	broad.mit.edu	37	17	4084568	4084568	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:4084568C>T	uc002fxn.3	-	15	2464	c.2347G>A	c.(2347-2349)Gcc>Acc	p.A783T	ANKFY1_uc002fxo.3_Missense_Mutation_p.A742T|ANKFY1_uc002fxp.3_Missense_Mutation_p.A740T|ANKFY1_uc010ckp.3_Missense_Mutation_p.A683T|ANKFY1_uc002fxq.1_Missense_Mutation_p.A741T	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	Homo sapiens ankyrin repeat and FYVE domain containing 1 (ANKFY1), transcript variant 1, mRNA.	741						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						AGAAAGCAGGCGGTGGGCTCG	0.522												
USP6	9098	broad.mit.edu	37	17	5037255	5037255	+	Missense_Mutation	SNP	G	G	A	rs138849740	byFrequency	TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:5037255G>A	uc002gau.1	+	14	2688	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	USP6_uc002gav.1_Missense_Mutation_p.R153Q|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.3_Missense_Mutation_p.R214Q|DQ586040_uc002gay.1_5'Flank|DQ575687_uc021toi.1_5'Flank|DQ570124_uc002gba.3_5'Flank|DQ576627_uc002gbb.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	153	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACGACTCTCCGGAACCATGTC	0.562			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts							
MYH13	8735	broad.mit.edu	37	17	10250061	10250061	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:10250061C>T	uc002gmk.1	-	12	1289	c.1199G>A	c.(1198-1200)gGc>gAc	p.G400D	MYH13_uc010vvf.1_Missense_Mutation_p.G75D	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	400	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACAGCACAGGCCCTTCAGCAT	0.458												
KRTAP4-9	100132386	broad.mit.edu	37	17	39261809	39261809	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:39261809T>C	uc010wfp.2	+	0	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	57	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament		p.S57P(2)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GTGCTGCCAGTCTGTGTGCTG	0.652												
CDC27	996	broad.mit.edu	37	17	45219355	45219355	+	Frame_Shift_Del	DEL	C	C	-			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:45219355delC	uc002ile.4	-	11	1560	c.1433delG	c.(1432-1434)ggtfs	p.G478fs	CDC27_uc002ild.4_Frame_Shift_Del_p.G472fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.G471fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.G411fs|CDC27_uc010wkq.1_Intron	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	472					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGCTAAATAACCTTTCCCCAT	0.368												
KIF2B	84643	broad.mit.edu	37	17	51900577	51900577	+	Silent	SNP	G	G	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:51900577G>T	uc002iua.2	+	0	339	c.183G>T	c.(181-183)gtG>gtT	p.V61V		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	61					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.W60L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TAGAGTGGGTGGAGAAAGCAG	0.557												
KIF2B	84643	broad.mit.edu	37	17	51900579	51900579	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:51900579A>G	uc002iua.2	+	0	341	c.185A>G	c.(184-186)gAg>gGg	p.E62G		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	62					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGTGGGTGGAGAAAGCAGTC	0.552												
GRIN2C	2905	broad.mit.edu	37	17	72845978	72845978	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:72845978G>A	uc002jlt.1	-	6	1742	c.1586C>T	c.(1585-1587)aCg>aTg	p.T529M	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.T529M	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	529					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	ACTGATGCCCGTCTCCACAAA	0.627												
MC5R	4161	broad.mit.edu	37	18	13826125	13826125	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr18:13826125A>G	uc010xaf.2	+	0	583	c.361A>G	c.(361-363)Atg>Gtg	p.M121V		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	121					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GTTTGACTCCATGATCTGCAT	0.517												
CTIF	9811	broad.mit.edu	37	18	46284644	46284644	+	Silent	SNP	A	A	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr18:46284644A>C	uc002ldd.3	+	8	1298	c.939A>C	c.(937-939)ccA>ccC	p.P313P	CTIF_uc002ldc.3_Silent_p.P313P|CTIF_uc002lde.4_5'Flank	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	313					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	p.P313P(2)|p.P265P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GGCTGCCCCCACAGCAGTCAG	0.632												
MAN2B1	4125	broad.mit.edu	37	19	12769127	12769127	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr19:12769127C>T	uc002mub.2	-	8	1217	c.1141G>A	c.(1141-1143)Gcg>Acg	p.A381T	MAN2B1_uc010dyv.1_Missense_Mutation_p.A380T	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	381					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGGCCATCCGCGTAAGGGAAG	0.617												
NLRP5	126206	broad.mit.edu	37	19	56565093	56565093	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr19:56565093C>T	uc002qmj.3	+	12	3218	c.3218C>T	c.(3217-3219)aCg>aTg	p.T1073M	NLRP5_uc002qmi.3_Missense_Mutation_p.T1054M	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	1073						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGGATCTCACGGACAATGCC	0.587												
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr19:58385546G>T	uc002qqo.2	-	2	1484	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(20)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393												
CCDC164	92749	broad.mit.edu	37	2	26647184	26647184	+	Silent	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:26647184C>T	uc002rhg.2	+	3	476	c.402C>T	c.(400-402)ttC>ttT	p.F134F	CCDC164_uc010eym.1_Intron	NM_145038	NP_659475	Q96MC2	CC164_HUMAN	Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.	134										cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						AGGACAAATTCGATGAAATCA	0.498												
SRBD1	55133	broad.mit.edu	37	2	45801787	45801787	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:45801787G>A	uc002rus.3	-	7	1224	c.1148C>T	c.(1147-1149)aCg>aTg	p.T383M		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	383					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GAAGTCAAGCGTGTCTTTGTC	0.393												
GALNT5	11227	broad.mit.edu	37	2	158165186	158165186	+	Silent	SNP	A	A	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:158165186A>G	uc002tzg.3	+	8	2883	c.2628A>G	c.(2626-2628)agA>agG	p.R876R	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	876	Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GTGATAACAGAAACAAAGGGC	0.388												
LY75-CD302	4065	broad.mit.edu	37	2	160755282	160755282	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:160755282C>A	uc002ubb.4	-	1	457	c.383G>T	c.(382-384)gGa>gTa	p.G128V	LY75-CD302_uc010fos.3_Missense_Mutation_p.G128V|LY75-CD302_uc002ubc.4_Missense_Mutation_p.G128V|LY75-CD302_uc010fot.2_Missense_Mutation_p.G128V	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	128	Ricin B-type lectin.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	p.G128V(1)									TGTGCCATGTCCATCCTTCAG	0.522												
VIL1	7429	broad.mit.edu	37	2	219294359	219294359	+	Silent	SNP	C	C	T	rs148795202		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:219294359C>T	uc002vib.3	+	6	832	c.810C>T	c.(808-810)gtC>gtT	p.V270V	VIL1_uc010zke.2_5'UTR|VIL1_uc002via.3_Silent_p.V270V|VIL1_uc002vic.1_Silent_p.V270V	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	270	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGGGAAGTCGCCACACGGC	0.622												
SPEG	10290	broad.mit.edu	37	2	220344732	220344732	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:220344732C>T	uc010fwg.3	+	24	5212	c.5212C>T	c.(5212-5214)Cgg>Tgg	p.R1738W		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1738	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCAGCAGGTGCGGATCTGTGA	0.572												
D2HGDH	728294	broad.mit.edu	37	2	242681957	242681957	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:242681957T>C	uc002wce.1	+	3	631	c.458T>C	c.(457-459)aTg>aCg	p.M153T	D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Missense_Mutation_p.M19T|D2HGDH_uc002wcg.1_Non-coding_Transcript	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	153	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		ACTGCCCGCATGAACCGGGTC	0.642												
TNNC2	7125	broad.mit.edu	37	20	44453472	44453472	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr20:44453472G>A	uc002xpr.3	-	2	70	c.4_splice	c.e2-1	p.T2_splice		NM_003279	NP_003270	P02585	TNNC2_HUMAN	Homo sapiens troponin C type 2 (fast) (TNNC2), mRNA.	2				TD -> DT (in Ref. 6; AA sequence).	muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)				CTGCTGGTCCGTCTGCAGGAG	0.612												
GOLGA4	2803	broad.mit.edu	37	3	37366849	37366849	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr3:37366849G>A	uc003cgv.3	+	13	3832	c.3472G>A	c.(3472-3474)Gtt>Att	p.V1158I	GOLGA4_uc010hgr.2_Missense_Mutation_p.V719I|GOLGA4_uc003cgw.3_Missense_Mutation_p.V1180I|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.V1039I	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	1158	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGAGCAGCTAGTTGAACTGAA	0.383												
FAM86DP	692099	broad.mit.edu	37	3	75475655	75475655	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr3:75475655C>T	uc003dpp.4	-	6	942	c.583G>A	c.(583-585)Gtg>Atg	p.V195M	FAM86DP_uc003dps.4_Non-coding_Transcript|FAM86DP_uc003dpq.4_Missense_Mutation_p.V103M|FAM86DP_uc003dpr.4_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member D, pseudogene (FAM86DP), non-coding RNA.																		GTAAAGGCCACGTAGACCTCA	0.647												
CEP63	80254	broad.mit.edu	37	3	134225989	134225989	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr3:134225989T>C	uc003eqo.1	+	3	532	c.83T>C	c.(82-84)cTc>cCc	p.L28P	CEP63_uc003eql.1_Missense_Mutation_p.L28P|CEP63_uc003eqm.3_Missense_Mutation_p.L28P|CEP63_uc003eqn.1_Missense_Mutation_p.L28P	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	28					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTACAGGAGCTCATGAAACAG	0.363												
HTR3D	200909	broad.mit.edu	37	3	183756271	183756271	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr3:183756271C>A	uc011bqv.2	+	6	994	c.994C>A	c.(994-996)Cac>Aac	p.H332N	HTR3D_uc003fmj.3_Missense_Mutation_p.H157N|HTR3D_uc011bqu.2_Missense_Mutation_p.H282N|HTR3D_uc010hxp.3_Missense_Mutation_p.H111N	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3 family member D (HTR3D), transcript variant 3, mRNA.	332						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCACCTGCTGCACGTGGCCAC	0.652												
TRIML2	205860	broad.mit.edu	37	4	189018255	189018255	+	Silent	SNP	G	G	A	rs144128750		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr4:189018255G>A	uc011cle.1	-	6	1002	c.780C>T	c.(778-780)tgC>tgT	p.C260C	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Silent_p.C185C	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	185	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTCTTATGTGGCATAAACTCA	0.493												
HCN1	348980	broad.mit.edu	37	5	45262592	45262592	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr5:45262592C>T	uc003jok.3	-	7	2129	c.2104G>A	c.(2104-2106)Gcg>Acg	p.A702T		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	702						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.A702A(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGCAGACCGCGGTGGTGTAG	0.642												
RGNEF	64283	broad.mit.edu	37	5	73048878	73048878	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr5:73048878G>A	uc010izf.3	+	3	502	c.326G>A	c.(325-327)cGc>cAc	p.R109H	RGNEF_uc011csq.2_Missense_Mutation_p.R109H|RGNEF_uc003kcy.1_Missense_Mutation_p.R109H|RGNEF_uc021yam.1_Missense_Mutation_p.R109H	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	109					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		CAGGCCAATCGCCTCACAGCC	0.617												
FBXO38	81545	broad.mit.edu	37	5	147807459	147807459	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr5:147807459C>A	uc003lpf.1	+	14	2722	c.2602C>A	c.(2602-2604)Cta>Ata	p.L868I	FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	868						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGAGGCCCCTAACCAGGGC	0.562												
FOXI1	2299	broad.mit.edu	37	5	169535162	169535162	+	Silent	SNP	C	C	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr5:169535162C>A	uc003mai.4	+	1	729	c.684C>A	c.(682-684)tcC>tcA	p.S228S	FOXI1_uc003maj.4_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	228					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCACAGCCTCCTTGGCCTTAG	0.532									Pendred syndrome			
DAXX	1616	broad.mit.edu	37	6	33286946	33286946	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr6:33286946C>A	uc003oec.3	-	6	2195	c.1991G>T	c.(1990-1992)tGt>tTt	p.C664F	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|ZBTB22_uc021ywm.1_5'Flank|DAXX_uc021ywn.1_Intron|DAXX_uc021ywo.1_Intron|DAXX_uc011dre.2_Missense_Mutation_p.C676F|DAXX_uc003oed.3_Missense_Mutation_p.C664F|DAXX_uc011drd.2_Missense_Mutation_p.C589F	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	664	Interaction with SPOP.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GGGCAGGGTACATATCTTTTT	0.542			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM							
IP6K3	117283	broad.mit.edu	37	6	33690701	33690701	+	Silent	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr6:33690701C>T	uc010jvf.2	-	6	1565	c.1029G>A	c.(1027-1029)ccG>ccA	p.P343P	IP6K3_uc003ofb.2_Silent_p.P343P	NM_001142883	NP_473452	Q96PC2	IP6K3_HUMAN	Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA.	343					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						CGTGAGGATGCGGGCTGCCTG	0.552												
ABCB5	340273	broad.mit.edu	37	7	20782599	20782599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr7:20782599C>T	uc010kuh.3	+	24	3361	c.3124C>T	c.(3124-3126)Cga>Tga	p.R1042*	ABCB5_uc003suw.4_Nonsense_Mutation_p.R597*	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	597					regulation of membrane potential	apical plasma membrane|Golgi 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						CAGTATTGAGCGAGGAAAGAC	0.483												
C7orf60	154743	broad.mit.edu	37	7	112461814	112461814	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr7:112461814T>C	uc011kms.1	-	5	1408	c.1281A>G	c.(1279-1281)atA>atG	p.I427M	C7orf60_uc003vgo.1_Missense_Mutation_p.I401M	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	Homo sapiens chromosome 7 open reading frame 60 (C7orf60), mRNA.	401										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TTAAAAGTAATATGGGGTCTT	0.398												
PPP1R3A	5506	broad.mit.edu	37	7	113518832	113518832	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr7:113518832G>A	uc010ljy.1	-	3	2346	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	772					glycogen metabolic process	integral to membrane		p.A772A(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGGATCAAACGCTGTTTCCTT	0.403												
OR2A1	346528	broad.mit.edu	37	7	144015510	144015510	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr7:144015510C>T	uc011kud.2	+	0	293	c.293C>T	c.(292-294)aCg>aTg	p.T98M	OR2A9P_uc003wec.1_Intron	NM_001005287	NP_001005287	Q8NGT9	OR2A1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 1 (OR2A1), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					GGCTGCATGACGCAGACCTTT	0.577												
GIMAP1-GIMAP5	170575	broad.mit.edu	37	7	150417468	150417468	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr7:150417468G>A	uc003whq.3	+	2	516	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	GIMAP1-GIMAP5_uc022apw.1_Missense_Mutation_p.A126T	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.									p.A126T(1)									TCGGTTCACCGCCCAGGACCA	0.637												
FAM110B	90362	broad.mit.edu	37	8	59059573	59059573	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr8:59059573G>C	uc022auu.1	+	0	784	c.784G>C	c.(784-786)Gac>Cac	p.D262H	FAM110B_uc003xtj.1_Missense_Mutation_p.D262H	NM_147189	NP_671722	Q8TC76	F110B_HUMAN	Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.	262						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GTCTAAGTCAGACTTGAGTGA	0.562												
ZFHX4	79776	broad.mit.edu	37	8	77768255	77768255	+	Nonsense_Mutation	SNP	C	C	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr8:77768255C>G	uc003yau.2	+	9	9485	c.9098C>G	c.(9097-9099)tCa>tGa	p.S3033*	ZFHX4_uc003yaw.1_Nonsense_Mutation_p.S2988*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2988			V -> G (in dbSNP:rs16939380).			nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCACATTTCAAAAGTGAGG	0.537										HNSCC(33;0.089)		
FAM83H	286077	broad.mit.edu	37	8	144808629	144808629	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr8:144808629C>T	uc003yzk.3	-	4	3071	c.3002G>A	c.(3001-3003)cGt>cAt	p.R1001H		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	1001					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGTGACAGACGCCGCGGGCT	0.697												
PIP5K1B	8395	broad.mit.edu	37	9	71509330	71509330	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr9:71509330A>G	uc004agu.3	+	7	852	c.547A>G	c.(547-549)Atc>Gtc	p.I183V	PIP5K1B_uc011lrq.2_Missense_Mutation_p.I183V|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	183	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AGGCATTAATATCAGGATTGT	0.373												
FAM75E1	286234	broad.mit.edu	37	9	90501883	90501883	+	Silent	SNP	C	C	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr9:90501883C>G	uc004app.4	+	3	2516	c.2481C>G	c.(2479-2481)ctC>ctG	p.L827L	FAM75E1_uc004apo.1_Silent_p.L639L	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	827						integral to membrane											TTTCCTTCCTCCATCCCTGCA	0.562												
MXRA5	25878	broad.mit.edu	37	X	3240193	3240193	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:3240193T>C	uc004crg.4	-	4	3690	c.3533A>G	c.(3532-3534)gAg>gGg	p.E1178G		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1178						extracellular region		p.E1178D(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGAAAAAGTCTCTGATGGGGC	0.488												
RAI2	10742	broad.mit.edu	37	X	17818870	17818870	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:17818870C>T	uc022btm.1	-	0	1261	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	RAI2_uc004cyf.3_Missense_Mutation_p.E421K|RAI2_uc004cyg.3_Missense_Mutation_p.E421K|RAI2_uc011miy.2_Missense_Mutation_p.E371K|RAI2_uc022btl.1_Missense_Mutation_p.E421K|RAI2_uc004cyh.4_Missense_Mutation_p.E421K|RAI2_uc010nfa.3_Missense_Mutation_p.E421K	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	421					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GCCTTGACTTCGCCGCTGGGG	0.567												
KLHL34	257240	broad.mit.edu	37	X	21675213	21675213	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:21675213C>G	uc004czz.1	-	0	1236	c.694G>C	c.(694-696)Gta>Cta	p.V232L		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.	232	BACK.							p.D231D(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CGCCGCAGTACGTCGGCGGGA	0.667												
DUSP21	63904	broad.mit.edu	37	X	44703624	44703624	+	Silent	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:44703624C>T	uc004dgd.3	+	0	376	c.246C>T	c.(244-246)taC>taT	p.Y82Y		NM_022076	NP_071359	Q9H596	DUS21_HUMAN	Homo sapiens dual specificity phosphatase 21 (DUSP21), mRNA.	82	Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.Y82Y(4)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						CGCGTCTCTACGACTTTTTTG	0.542												
EDA2R	60401	broad.mit.edu	37	X	65819404	65819404	+	Silent	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:65819404C>T	uc004dwt.2	-	5	889	c.879G>A	c.(877-879)gaG>gaA	p.E293E	EDA2R_uc004dwr.3_Intron|EDA2R_uc004dws.3_Silent_p.E272E|EDA2R_uc011mpb.2_Non-coding_Transcript|EDA2R_uc011mpc.2_Silent_p.E148E|EDA2R_uc004dwq.3_Silent_p.E272E|EDA2R_uc022byh.1_Silent_p.E274E	NM_001242310	NP_001229239	Q9HAV5	TNR27_HUMAN	Homo sapiens ectodysplasin A2 receptor (EDA2R), transcript variant 3, mRNA.	272					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	p.E293E(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CCCCCAAGGTCTCAGCTCCAG	0.547												
PCDH11X	27328	broad.mit.edu	37	X	91873723	91873723	+	Silent	SNP	C	C	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:91873723C>A	uc004efk.2	+	6	4673	c.3828C>A	c.(3826-3828)gtC>gtA	p.V1276V	PCDH11X_uc004efl.2_Silent_p.V1266V|PCDH11X_uc010nmv.2_3'UTR|PCDH11X_uc004efm.2_Silent_p.V1268V|PCDH11X_uc004efn.2_Silent_p.V1258V|PCDH11X_uc004efo.2_Silent_p.V1239V	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	1276					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.V1276V(2)|p.S1275*(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AATCATCAGTCAGTTTGCAGC	0.517												
CSTF2	1478	broad.mit.edu	37	X	100075435	100075435	+	Silent	SNP	G	G	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:100075435G>T	uc004egh.3	+	0	88	c.30G>T	c.(28-30)gcG>gcT	p.A10A	CSTF2_uc010nnd.3_Silent_p.A10A|CSTF2_uc004egi.3_Silent_p.A10A	NM_001325	NP_001316	P33240	CSTF2_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa (CSTF2), mRNA.	10					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GAGACCCAGCGGTGGATCGTT	0.562												
TEX13B	56156	broad.mit.edu	37	X	107224498	107224498	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:107224498C>G	uc004enn.1	-	2	844	c.751G>C	c.(751-753)Gtc>Ctc	p.V251L		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	Homo sapiens testis expressed 13B (TEX13B), mRNA.	251										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						AGAAGACAGACATGGCTGTTT	0.552												
TRPC5	7224	broad.mit.edu	37	X	111020072	111020072	+	Silent	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:111020072G>A	uc004epl.1	-	10	3310	c.2391C>T	c.(2389-2391)gtC>gtT	p.V797V		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	797					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AATTAAAAGAGACACTCTTGG	0.483												
AFF2	2334	broad.mit.edu	37	X	148059892	148059892	+	Silent	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:148059892C>T	uc004fcp.3	+	18	3956	c.3477_splice	c.e18-1	p.C1159_splice	AFF2_uc004fcq.3_Splice_Site_p.C1149_splice|AFF2_uc004fcr.3_Splice_Site_p.C1120_splice|AFF2_uc011mxb.2_Splice_Site_p.C1124_splice|AFF2_uc004fcs.3_Splice_Site_p.C1124_splice|AFF2_uc011mxc.2_Splice_Site_p.C800_splice	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1159					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ATCACCACAGCTACCGATGTT	0.378												
MTMR1	8776	broad.mit.edu	37	X	149931076	149931076	+	Silent	SNP	C	C	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:149931076C>A	uc004feh.1	+	15	2031	c.1896C>A	c.(1894-1896)gtC>gtA	p.V632V	MTMR1_uc011mya.1_Silent_p.V530V|MTMR1_uc004fei.3_Silent_p.V624V|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Intron	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.	624						plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGGCCGTCAGGGCGGAGC	0.627												
ABCD1	215	broad.mit.edu	37	X	153008746	153008746	+	Missense_Mutation	SNP	C	C	T	rs74315282		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:153008746C>T	uc004fif.2	+	8	2336	c.1937C>T	c.(1936-1938)gCg>gTg	p.A646V		NM_000033	NP_000024	P33897	ABCD1_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA.	646	ABC transporter.		A -> P (in X-ALD).		fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	p.Q645Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCTTCCAGGCGGCCAAGGAC	0.672												
