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
MIB2	142678	broad.mit.edu	37	1	1563429	1563429	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:1563429G>A	uc001agg.3	+	13	2101	c.2056G>A	c.(2056-2058)Gcc>Acc	p.A686T	MIB2_uc001agh.3_Missense_Mutation_p.A672T|MIB2_uc001agi.3_Missense_Mutation_p.A682T|MIB2_uc001agj.3_Missense_Mutation_p.A470T|MIB2_uc001agk.3_Missense_Mutation_p.A621T|MIB2_uc001agl.2_Missense_Mutation_p.A585T|MIB2_uc001agm.3_Missense_Mutation_p.A506T|MIB2_uc010nyq.2_Missense_Mutation_p.A585T|MIB2_uc009vkh.3_Missense_Mutation_p.A435T|MIB2_uc001agn.3_Missense_Mutation_p.A261T|MIB2_uc001ago.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	629					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTGCACTCCGCCATCTCGGC	0.652												
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	Frame_Shift_Ins	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:17034125_17034126insAGCT	uc001azn.1	-	2	478_479	c.364_365insAGCT	c.(364-366)tggfs	p.W122fs	ESPNP_uc010ocj.1_Frame_Shift_Ins_p.W52fs					Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		CAGCAGCAGCCAGCTGAGCACC	0.718												
RCC1	1104	broad.mit.edu	37	1	28858379	28858379	+	Frame_Shift_Del	DEL	C	C	-			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:28858379delC	uc001bqb.2	+	5	537	c.138delC	c.(136-138)ggcfs	p.G46fs	RCC1_uc001bqa.2_Frame_Shift_Del_p.G46fs|RCC1_uc001bqc.2_Frame_Shift_Del_p.G46fs|RCC1_uc001bqe.2_Frame_Shift_Del_p.G63fs|RCC1_uc001bqf.2_Frame_Shift_Del_p.G77fs|RCC1_uc001bqg.2_Frame_Shift_Del_p.G46fs	NM_001269	NP_001260	P18754	RCC1_HUMAN	Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 3, mRNA.	46					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GCGACGTGGGCCAGCTGGGGC	0.607												
BARHL2	343472	broad.mit.edu	37	1	91182732	91182732	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:91182732G>A	uc001dns.3	-	0	63	c.21C>T	c.(19-21)agC>agT	p.S7S		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA.	7						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		AACTCGACCCGCTGGCCCCTT	0.562												
NBPF10	400818	broad.mit.edu	37	1	144828704	144828704	+	Missense_Mutation	SNP	T	T	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:144828704T>G	uc009wig.1	+	21	2937	c.2743T>G	c.(2743-2745)Tac>Gac	p.Y915D	NBPF10_uc010oxo.1_Missense_Mutation_p.Y842D|NBPF10_uc010oxn.1_Missense_Mutation_p.Y815D|NBPF10_uc021oth.1_Missense_Mutation_p.Y577D|NBPF10_uc021otj.1_Missense_Mutation_p.Y944D|NBPF10_uc021oto.1_Missense_Mutation_p.Y732D|NBPF10_uc021otr.1_Missense_Mutation_p.Y244D|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Missense_Mutation_p.Y488D|NBPF10_uc010oyd.1_Missense_Mutation_p.Y244D|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	917								p.L657L(3)|p.Y584D(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTTCGCCCTTTACGTGGACAA	0.438												
FLG2	388698	broad.mit.edu	37	1	152325929	152325929	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:152325929G>A	uc001ezw.4	-	2	4406	c.4333C>T	c.(4333-4335)Caa>Taa	p.Q1445*	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1445							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGAGTTTGTTCTTGTGAT	0.522												
SPTA1	6708	broad.mit.edu	37	1	158632643	158632643	+	Missense_Mutation	SNP	C	C	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:158632643C>G	uc001fst.1	-	16	2512	c.2313G>C	c.(2311-2313)ttG>ttC	p.L771F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	771					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCGGCATACCAAGGACTCTT	0.468												
ABL2	27	broad.mit.edu	37	1	179084044	179084044	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:179084044G>A	uc001gmj.4	-	8	1817	c.1530C>T	c.(1528-1530)tgC>tgT	p.C510C	ABL2_uc010pnf.2_Silent_p.C510C|ABL2_uc010png.2_Silent_p.C489C|ABL2_uc010pnh.2_Silent_p.C489C|ABL2_uc009wxe.3_Silent_p.C489C|ABL2_uc001gmg.4_Silent_p.C495C|ABL2_uc001gmi.4_Silent_p.C495C|ABL2_uc010pne.2_Silent_p.C474C	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	510	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.P476fs*7(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCTTAGGGGGGCATCCCTCAG	0.383			T	ETV6	AML							
USH2A	7399	broad.mit.edu	37	1	216256823	216256823	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:216256823T>C	uc001hku.1	-	25	5660	c.5273A>G	c.(5272-5274)aAc>aGc	p.N1758S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1758	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.N1758T(2)|p.N1758N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCATCTTTGTTATAAACGAA	0.303										HNSCC(13;0.011)		
PTEN	5728	broad.mit.edu	37	10	89692902	89692902	+	Missense_Mutation	SNP	G	G	A	rs121909218		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr10:89692902G>A	uc001kfb.3	+	4	1418	c.386G>A	c.(385-387)gGa>gAa	p.G129E	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	129	Phosphatase tensin-type.		G -> E (in CD; no lipid phosphatase activity but retains protein phosphatase activity; retains ability to inhibit focal adhesion formation).|G -> R (in glioblastoma; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).		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.0?(37)|p.K128_R130del(8)|p.K128N(7)|p.G129R(7)|p.G129V(6)|p.?(5)|p.R55fs*1(5)|p.G129E(4)|p.G129*(4)|p.A121_F145del(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.K128fs*47(2)|p.G129fs*51(1)|p.G129fs*5(1)|p.G127fs*5(1)|p.G129fs*50(1)|p.K128Q(1)|p.F56fs*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)		GCTGGAAAGGGACGAACTGGT	0.413		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)		
UBQLN3	50613	broad.mit.edu	37	11	5529018	5529018	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:5529018G>A	uc021qcw.1	-	0	1771	c.1771C>T	c.(1771-1773)Ctt>Ttt	p.L591F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.L591F	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	591										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGGGGAAAGGAAGCCCAGC	0.527												
PAMR1	25891	broad.mit.edu	37	11	35454046	35454046	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:35454046G>A	uc001mwf.3	-	11	2115	c.2072C>T	c.(2071-2073)cCg>cTg	p.P691L	PAMR1_uc001mwg.3_Missense_Mutation_p.P674L|PAMR1_uc010rew.2_Missense_Mutation_p.P563L|PAMR1_uc010rex.2_Missense_Mutation_p.P634L	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	674	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGCTCGTCCCGGGAAGGACAC	0.567												
ALX4	60529	broad.mit.edu	37	11	44331575	44331575	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:44331575G>A	uc001myb.3	-	0	142	c.38C>T	c.(37-39)cCg>cTg	p.P13L		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	Homo sapiens ALX homeobox 4 (ALX4), mRNA.	13					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GGCAGCGGCCGGCGACTCGCA	0.682												
SLC22A11	55867	broad.mit.edu	37	11	64335161	64335161	+	Silent	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:64335161C>T	uc001oai.3	+	6	1523	c.1149C>T	c.(1147-1149)gcC>gcT	p.A383A	SLC22A11_uc009ypq.3_Intron	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	383					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	p.G382R(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TCTTCGGGGCCGTGGACTTCC	0.642												
PIH1D2	120379	broad.mit.edu	37	11	111943820	111943820	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:111943820G>A	uc001pmp.4	-	1	302	c.79C>T	c.(79-81)Cct>Tct	p.P27S	PIH1D2_uc009yyl.3_Missense_Mutation_p.P27S|PIH1D2_uc010rws.1_Missense_Mutation_p.P27S|C11orf57_uc001pmu.2_5'Flank|C11orf57_uc001pmw.4_5'Flank|C11orf57_uc001pmr.4_5'Flank|C11orf57_uc001pmt.4_5'Flank|C11orf57_uc001pmv.4_5'Flank|C11orf57_uc001pms.4_5'Flank	NM_138789	NP_620144	Q8WWB5	PIHD2_HUMAN	Homo sapiens PIH1 domain containing 2 (PIH1D2), transcript variant 1, mRNA.	27										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		TAGCCCTCAGGGTCACTCTGA	0.463												
ST14	6768	broad.mit.edu	37	11	130064098	130064098	+	Missense_Mutation	SNP	C	C	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:130064098C>A	uc001qfw.3	+	7	1123	c.930C>A	c.(928-930)aaC>aaA	p.N310K	ST14_uc010sca.1_Missense_Mutation_p.N120K	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	310	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CCTCCCAGAACGTCCTGCTCA	0.587												
C3AR1	719	broad.mit.edu	37	12	8212173	8212173	+	Silent	SNP	C	C	T	rs138822577		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:8212173C>T	uc001qtv.1	-	1	701	c.609G>A	c.(607-609)ccG>ccA	p.P203P	C3AR1_uc021quj.1_Silent_p.P203P	NM_004054	NP_004045	Q16581	C3AR_HUMAN	Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.	203				P -> R (in Ref. 1; AAC50374).	blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TTTCTCCAGGCGGCTGAACAA	0.408												
KRT8	3856	broad.mit.edu	37	12	53292563	53292563	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:53292563C>T	uc009zmk.1	-	6	1206	c.1186G>A	c.(1186-1188)Gcg>Acg	p.A396T	KRT8_uc001sbd.2_Missense_Mutation_p.A368T|KRT8_uc009zml.1_Missense_Mutation_p.A368T|KRT8_uc009zmm.1_Missense_Mutation_p.A368T	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	368	Coil 2.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCTGCCGCGCCATGTCCTGC	0.637												
RPS26	6231	broad.mit.edu	37	12	56436346	56436346	+	Silent	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:56436346C>T	uc001sjf.3	+	1	406	c.141C>T	c.(139-141)gcC>gcT	p.A47A		NM_001029	NP_001020	P62854	RS26_HUMAN	Homo sapiens ribosomal protein S26 (RPS26), mRNA.	47					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TAGTGGAGGCCGCAGCAGTCA	0.557												
TSPAN8	7103	broad.mit.edu	37	12	71523126	71523126	+	Silent	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:71523126T>C	uc009zrt.1	-	6	807	c.645A>G	c.(643-645)ggA>ggG	p.G215G	TSPAN8_uc001swk.1_Silent_p.G215G|TSPAN8_uc001swj.1_Silent_p.G215G	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	215					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TAACTGCCAGTCCAAATGATA	0.274												
CCDC63	160762	broad.mit.edu	37	12	111336859	111336859	+	Silent	SNP	C	C	T	rs115748204	by1000genomes	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:111336859C>T	uc001trv.1	+	9	1467	c.1272C>T	c.(1270-1272)gaC>gaT	p.D424D	CCDC63_uc010sye.1_Silent_p.D384D|CCDC63_uc001trw.1_Silent_p.D339D	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	424										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TAAACTGTGACGCCACCAAGA	0.498												
USP12	219333	broad.mit.edu	37	13	27664021	27664021	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr13:27664021G>A	uc001uqy.3	-	6	991	c.734_splice	c.e6+1	p.R245_splice		NM_182488	NP_872294	O75317	UBP12_HUMAN	Homo sapiens ubiquitin specific peptidase 12 (USP12), mRNA.	245					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R245W(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TAAAATTACCGTTTGTGTGCT	0.353												
CCDC169-SOHLH2	54937	broad.mit.edu	37	13	36748890	36748890	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr13:36748890C>T	uc010tei.2	-	11	1304	c.989G>A	c.(988-990)cGg>cAg	p.R330Q	CCDC169-SOHLH2_uc001uvj.3_Missense_Mutation_p.R253Q	NM_001198910	NP_001185839	B4DX90	B4DX90_HUMAN	Homo sapiens CCDC169-SOHLH2 readthrough (CCDC169-SOHLH2), mRNA.	330					regulation of transcription, DNA-dependent	nucleus											GATTTTCTCCCGGATATATTT	0.403												
RCBTB2	1102	broad.mit.edu	37	13	49070369	49070369	+	Missense_Mutation	SNP	A	A	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr13:49070369A>T	uc010tgg.2	-	12	1779	c.1488T>A	c.(1486-1488)aaT>aaA	p.N496K	RCBTB2_uc001vci.3_Missense_Mutation_p.N467K|RCBTB2_uc010tgh.2_Missense_Mutation_p.N217K|RCBTB2_uc001vch.3_Missense_Mutation_p.N491K|RCBTB2_uc001vcj.3_Missense_Mutation_p.N443K	NM_001268	NP_001259	O95199	RCBT2_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 (RCBTB2), mRNA.	491	BTB 2.						Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		GAGCGATGGCATTCTCCTCGC	0.502												
PCDH17	27253	broad.mit.edu	37	13	58207833	58207833	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr13:58207833G>A	uc001vhq.1	+	0	2045	c.1153G>A	c.(1153-1155)Gga>Aga	p.G385R	PCDH17_uc010aec.1_Missense_Mutation_p.G385R	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	385	Cadherin 4.|Gly-rich.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGGCAAGAACGGACAGCTGCA	0.721												
PCDH17	27253	broad.mit.edu	37	13	58208729	58208729	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr13:58208729G>A	uc001vhq.1	+	0	2941	c.2049G>A	c.(2047-2049)tcG>tcA	p.S683S	PCDH17_uc010aec.1_Silent_p.S683S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	683	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCATCCGCTCGGTGAGCGGAT	0.632												
AHNAK2	113146	broad.mit.edu	37	14	105417209	105417209	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr14:105417209C>T	uc010axc.1	-	6	4699	c.4579G>A	c.(4579-4581)Gtg>Atg	p.V1527M	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.V1427M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1527						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGAGGCTCACGTCGGCCTCC	0.622												
AHNAK2	113146	broad.mit.edu	37	14	105418199	105418199	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr14:105418199C>T	uc010axc.1	-	6	3709	c.3589G>A	c.(3589-3591)Gtg>Atg	p.V1197M	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.V1097M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1197						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGAGACTCACGTCGGCCTCC	0.617												
MAP1A	4130	broad.mit.edu	37	15	43818898	43818898	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr15:43818898C>T	uc001zrt.3	+	3	5694	c.5227C>T	c.(5227-5229)Cgg>Tgg	p.R1743W		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1743						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGTACCCCTGCGGGAACACGC	0.597												
BNC1	646	broad.mit.edu	37	15	83935703	83935703	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr15:83935703C>T	uc002bjt.1	-	2	408	c.320G>A	c.(319-321)cGc>cAc	p.R107H	BNC1_uc010uos.1_Missense_Mutation_p.R95H	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	107					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R107C(2)|p.V106I(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GATTTTTAGGCGAACGGGGAT	0.507												
PCSK6	5046	broad.mit.edu	37	15	101929721	101929721	+	Missense_Mutation	SNP	A	A	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr15:101929721A>G	uc002bxa.2	-	9	1569	c.1255T>C	c.(1255-1257)Tca>Cca	p.S419P	PCSK6_uc010bpd.3_Missense_Mutation_p.S290P|PCSK6_uc002bwy.3_Missense_Mutation_p.S419P|PCSK6_uc010bpe.3_Missense_Mutation_p.S416P|PCSK6_uc002bxb.2_Missense_Mutation_p.S419P|PCSK6_uc002bxc.1_Missense_Mutation_p.S419P|PCSK6_uc002bxd.1_Missense_Mutation_p.S419P|PCSK6_uc002bxe.3_Missense_Mutation_p.S419P|PCSK6_uc002bxg.1_Missense_Mutation_p.S419P	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	420	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	p.T418T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCAGAGACTGAGGTCCCAGTG	0.517												
TBL3	10607	broad.mit.edu	37	16	2025082	2025082	+	Silent	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr16:2025082C>T	uc002cnu.1	+	6	720	c.618C>T	c.(616-618)gaC>gaT	p.D206D	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Silent_p.D92D|TBL3_uc010bsc.1_Silent_p.D92D|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	206					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						TCAGCGCCGACGGCCACACCA	0.652												
CCDC113	29070	broad.mit.edu	37	16	58287944	58287944	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr16:58287944C>T	uc002ene.3	+	2	350	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	CCDC113_uc010vid.2_Intron	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	Homo sapiens coiled-coil domain containing 113 (CCDC113), transcript variant 1, mRNA.	91						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						AGGTATGGACCGTGGGGTAGG	0.507												
FLCN	201163	broad.mit.edu	37	17	17119805	17119805	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:17119805C>T	uc002gra.4	-	10	1693	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M	PLD6_uc010cpn.3_Non-coding_Transcript	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	Homo sapiens folliculin (FLCN), transcript variant 1, mRNA.	397					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACGCAGCCCACGGGAAGCATG	0.637									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome			
KRT37	8688	broad.mit.edu	37	17	39578590	39578590	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:39578590G>A	uc002hwp.1	-	3	876	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	277	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TACTGAGCCCGCATCTCCCCC	0.582												
G6PC	2538	broad.mit.edu	37	17	41063121	41063121	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:41063121T>C	uc002icb.1	+	4	831	c.752T>C	c.(751-753)gTc>gCc	p.V251A	G6PC_uc010whf.1_3'UTR	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	251					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	p.W250*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCAGAATGGGTCCACATTGAC	0.582												
C17orf57	124989	broad.mit.edu	37	17	45471419	45471419	+	Silent	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:45471419C>T	uc002iln.3	+	15	2186	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F	C17orf57_uc002ilm.3_Silent_p.F489F	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	585							calcium ion binding	p.F585L(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						TTAAAGAATTCATTGATACTA	0.269												
GPR142	350383	broad.mit.edu	37	17	72368116	72368116	+	Missense_Mutation	SNP	C	C	T	rs149042051	byFrequency	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:72368116C>T	uc021ucp.1	+	3	766	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	GPR142_uc010wqy.2_Missense_Mutation_p.R256C	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	256						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.R256C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CACGGTTGACCGCTACACTGC	0.687												
CDH7	1005	broad.mit.edu	37	18	63547824	63547824	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr18:63547824G>A	uc002lkb.3	+	11	2478	c.2052G>A	c.(2050-2052)agG>agA	p.R684R	CDH7_uc002ljz.3_Silent_p.R684R	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	684					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGACCCGGAGGGATGTGACTC	0.473												
MED16	10025	broad.mit.edu	37	19	868170	868170	+	Silent	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:868170C>T	uc002lqd.1	-	15	2716	c.2565G>A	c.(2563-2565)ccG>ccA	p.P855P	MED16_uc010drw.2_3'UTR|MED16_uc002lqe.3_3'UTR|MED16_uc002lqf.3_3'UTR|MED16_uc021umc.1_Non-coding_Transcript	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	Homo sapiens mediator complex subunit 16 (MED16), mRNA.	855					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGTGGACTGCGGGCCCAGCT	0.677												
CCDC124	115098	broad.mit.edu	37	19	18054397	18054397	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:18054397C>T	uc010xpz.2	+	4	590	c.545C>T	c.(544-546)cCg>cTg	p.P182L	CCDC124_uc002nhs.3_Missense_Mutation_p.P182L	NM_001136203	NP_612451	Q96CT7	CC124_HUMAN	Homo sapiens coiled-coil domain containing 124 (CCDC124), transcript variant 2, mRNA.	182							DNA binding			central_nervous_system(1)|kidney(2)	3						GCCCAGCTGCCGCGGCTCAAA	0.637												
UPF1	5976	broad.mit.edu	37	19	18961017	18961017	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:18961017G>A	uc002nkg.3	+	3	870	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	UPF1_uc002nkf.3_Missense_Mutation_p.A199T	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	199	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CTTCATCCCGGCCAAAGCTGA	0.612												
PRODH2	58510	broad.mit.edu	37	19	36303168	36303168	+	Silent	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:36303168C>T	uc002obx.1	-	3	624	c.606G>A	c.(604-606)gcG>gcA	p.A202A		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	202					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTCATACCACGCCTCACTGC	0.672												
RYR1	6261	broad.mit.edu	37	19	38991601	38991601	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:38991601G>A	uc002oit.3	+	46	7715	c.7585G>A	c.(7585-7587)Gac>Aac	p.D2529N	RYR1_uc002oiu.3_Missense_Mutation_p.D2529N|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2529	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.D2529E(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTTCCTGCCCGACATGAGGGC	0.642												
FCGBP	8857	broad.mit.edu	37	19	40384053	40384053	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:40384053T>C	uc002omp.4	-	20	9565	c.9557A>G	c.(9556-9558)gAg>gGg	p.E3186G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	3186	TIL 7.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGGCAGCCCTCCACACAGGG	0.652												
CNTD2	79935	broad.mit.edu	37	19	40730663	40730663	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:40730663C>T	uc010xvi.2	-	1	372	c.323G>A	c.(322-324)cGc>cAc	p.R108H	CNTD2_uc002ond.3_Intron	NM_024877	NP_079153	B4DX65	B4DX65_HUMAN	Homo sapiens cyclin N-terminal domain containing 2 (CNTD2), transcript variant 2, mRNA.	108					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						CACCAGGGCGCGCATCTCCGG	0.682												
LYPD4	147719	broad.mit.edu	37	19	42342041	42342041	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:42342041G>A	uc002orp.1	-	3	1490	c.506C>T	c.(505-507)aCg>aTg	p.T169M	LYPD4_uc002orq.1_Missense_Mutation_p.T134M	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	169	UPAR/Ly6.					anchored to membrane|plasma membrane		p.T169T(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						ACTGTAACACGTAGAAGCAGC	0.488												
PHLDB3	653583	broad.mit.edu	37	19	44008217	44008217	+	Missense_Mutation	SNP	T	T	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:44008217T>G	uc002own.4	-	1	313	c.54A>C	c.(52-54)gaA>gaC	p.E18D	PHLDB3_uc002owo.3_Missense_Mutation_p.E18D	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 3 (PHLDB3), mRNA.	18										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CCACGTCGCATTCCGGGACCA	0.736												
KLK15	55554	broad.mit.edu	37	19	51330300	51330300	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:51330300G>A	uc002ptl.3	-	2	346	c.315C>T	c.(313-315)aaC>aaT	p.N105N	KLK15_uc002ptm.3_Silent_p.N105N|KLK15_uc002ptn.3_Silent_p.N105N|KLK15_uc002pto.3_Silent_p.N104N|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Silent_p.N104N|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	105	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACATGATGTCGTTGCGGTGGC	0.687												
SIGLEC6	946	broad.mit.edu	37	19	52034114	52034114	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:52034114G>A	uc002pwy.3	-	2	735	c.527C>T	c.(526-528)aCg>aTg	p.T176M	SIGLEC6_uc002pwz.3_Missense_Mutation_p.T176M|SIGLEC6_uc010ydb.2_Missense_Mutation_p.T140M|SIGLEC6_uc010ydc.2_Missense_Mutation_p.T176M|SIGLEC6_uc002pxa.3_Missense_Mutation_p.T176M|SIGLEC6_uc010eoz.2_Missense_Mutation_p.T165M|SIGLEC6_uc010epa.2_Missense_Mutation_p.T165M|SIGLEC6_uc010epb.2_Missense_Mutation_p.T129M	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	176	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GATGGGGGGCGTCCCCTGCTC	0.667												
LILRB1	10859	broad.mit.edu	37	19	55143056	55143056	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:55143056G>A	uc002qgj.3	+	4	516	c.176G>A	c.(175-177)cGt>cAt	p.R59H	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.R59H|LILRB1_uc002qgk.3_Missense_Mutation_p.R59H|LILRB1_uc002qgm.3_Missense_Mutation_p.R59H|LILRB1_uc010erq.3_Missense_Mutation_p.R59H|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	59	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.R59C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAGGAGTACCGTCTATATAGA	0.572										HNSCC(37;0.09)		
CEP68	23177	broad.mit.edu	37	2	65296813	65296813	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:65296813C>T	uc002sdl.4	+	1	449	c.235C>T	c.(235-237)Cac>Tac	p.H79Y	CEP68_uc002sdj.2_Missense_Mutation_p.H79Y|CEP68_uc010yqb.1_Missense_Mutation_p.H79Y|CEP68_uc002sdk.4_Missense_Mutation_p.H79Y|CEP68_uc010yqc.2_Missense_Mutation_p.H79Y|CEP68_uc010yqd.1_Missense_Mutation_p.H79Y	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	79					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTCTAGAGCCCACCAGCCACA	0.637												
SUCLG1	8802	broad.mit.edu	37	2	84652596	84652596	+	Missense_Mutation	SNP	C	C	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:84652596C>A	uc002son.3	-	7	1150	c.957G>T	c.(955-957)caG>caT	p.Q319H		NM_003849	NP_003840	P53597	SUCA_HUMAN	Homo sapiens succinate-CoA ligase, alpha subunit (SUCLG1), nuclear gene encoding mitochondrial protein, mRNA.	319					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	CTCCTGCACTCTGAAGGGCAG	0.532												
CD8B	926	broad.mit.edu	37	2	87073862	87073862	+	Silent	SNP	C	C	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:87073862C>G	uc002srw.3	-	3	587	c.528G>C	c.(526-528)ctG>ctC	p.L176L	RMND5A_uc002srs.4_Intron|CD8B_uc002srx.3_Silent_p.L176L|CD8B_uc002sry.3_Intron|CD8B_uc010fgt.3_Intron|CD8B_uc002srz.3_Silent_p.L176L|CD8B_uc010yto.2_Silent_p.L176L	NM_172213	NP_757362	P10966	CD8B_HUMAN	Homo sapiens CD8b molecule (CD8B), transcript variant 2, mRNA.	176					immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						CGCCAGCCACCAGCAGGCCAA	0.532												
TBC1D8	11138	broad.mit.edu	37	2	101670635	101670635	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:101670635C>T	uc010fiv.3	-	3	652	c.521G>A	c.(520-522)cGc>cAc	p.R174H	TBC1D8_uc010yvw.2_Missense_Mutation_p.R189H|TBC1D8_uc002tau.4_5'UTR	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	174	GRAM 1.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CCAGCCCTGGCGGGGCACCCT	0.587												
IL1R2	7850	broad.mit.edu	37	2	102644815	102644815	+	Silent	SNP	A	A	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:102644815A>G	uc002tbm.3	+	8	1387	c.1158A>G	c.(1156-1158)ctA>ctG	p.L386L	IL1R2_uc002tbn.3_Silent_p.L386L	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	386					immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TGACTGTGCTATGGCCTCATC	0.448												
IL18RAP	8807	broad.mit.edu	37	2	103040874	103040874	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:103040874G>A	uc002tbx.3	+	5	1063	c.579_splice	c.e5+1	p.K193_splice	IL18RAP_uc010fiz.3_Splice_Site_p.K51_splice	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	193	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CCTGGTACAAGGTAAGAGTGA	0.413												
IRS1	3667	broad.mit.edu	37	2	227660008	227660008	+	Silent	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:227660008C>T	uc021vxn.1	-	0	3447	c.3447G>A	c.(3445-3447)gtG>gtA	p.V1149V	IRS1_uc002voh.4_Silent_p.V1149V	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	1149					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCCTCAGCCACACATTCTCAA	0.617												
C20orf94	128710	broad.mit.edu	37	20	10603963	10603963	+	Missense_Mutation	SNP	A	A	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:10603963A>G	uc010zre.2	+	7	1343	c.1163A>G	c.(1162-1164)gAa>gGa	p.E388G		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	Homo sapiens chromosome 20 open reading frame 94 (C20orf94), mRNA.	388							protein binding	p.T387S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	14						ACAAACACTGAAAGATTATCT	0.428												
PYGB	5834	broad.mit.edu	37	20	25255279	25255279	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:25255279C>T	uc002wup.3	+	4	689	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	194					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GGAGAAAGCGCGGCCTGAGTA	0.622												
TGM2	7052	broad.mit.edu	37	20	36760804	36760804	+	Missense_Mutation	SNP	T	T	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:36760804T>A	uc002xhr.3	-	10	1814	c.1714A>T	c.(1714-1716)Atc>Ttc	p.I572F	TGM2_uc002xhq.3_Missense_Mutation_p.I173F|TGM2_uc010zvx.2_Missense_Mutation_p.I491F|TGM2_uc010zvy.2_Missense_Mutation_p.I512F|TGM2_uc002xhs.1_Missense_Mutation_p.I548F	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	572					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TAGCTGTTGATAACTGGCTCC	0.567												
ARFGEF2	10564	broad.mit.edu	37	20	47585807	47585807	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:47585807G>A	uc002xtx.4	+	8	1335	c.1183G>A	c.(1183-1185)Gac>Aac	p.D395N		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	395					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGGCCCTCCAGACCCAAAGTA	0.527												
ARFGEF2	10564	broad.mit.edu	37	20	47591341	47591341	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:47591341G>A	uc002xtx.4	+	12	1856	c.1704G>A	c.(1702-1704)gtG>gtA	p.V568V		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	568					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGTGCCTCGTGTCCATTCTCA	0.517												
ZFP64	55734	broad.mit.edu	37	20	50769893	50769893	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:50769893C>T	uc002xwl.3	-	5	1187	c.838G>A	c.(838-840)Gtg>Atg	p.V280M	ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Missense_Mutation_p.V278M|ZFP64_uc002xwn.3_Missense_Mutation_p.V226M	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCCGAGTGCACCCGCATGTGC	0.552												
SLC17A9	63910	broad.mit.edu	37	20	61596500	61596500	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:61596500G>A	uc002yea.4	+	8	1111	c.927G>A	c.(925-927)acG>acA	p.T309T	SLC17A9_uc002ydz.4_Silent_p.T303T|SLC17A9_uc011aap.1_Silent_p.T329T	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	309					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GAGCCATCACGGTGCGGAAGC	0.587												
ZNF280A	129025	broad.mit.edu	37	22	22868791	22868791	+	Missense_Mutation	SNP	C	C	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr22:22868791C>A	uc002zwe.3	-	1	1417	c.1164G>T	c.(1162-1164)aaG>aaT	p.K388N	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.K388N	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTTCGCCAGGCTTATGATGGT	0.458												
PPP6R2	9701	broad.mit.edu	37	22	50860803	50860803	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr22:50860803G>A	uc003blb.2	+	9	1388	c.966G>A	c.(964-966)ccG>ccA	p.P322P	PPP6R2_uc003blc.3_Silent_p.P322P|PPP6R2_uc003bky.2_Silent_p.P322P|PPP6R2_uc003bla.2_Silent_p.P323P|PPP6R2_uc003bkz.2_Silent_p.P322P|AB372727_uc011arw.2_5'Flank	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	322						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TGCTCAACCCGCCCAAGGTAA	0.582												
CAMK1	8536	broad.mit.edu	37	3	9802446	9802446	+	Silent	SNP	G	G	A	rs138951531		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:9802446G>A	uc003bst.3	-	7	824	c.639C>T	c.(637-639)tgC>tgT	p.C213C	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_5'Flank|AX748417_uc003bsv.1_Non-coding_Transcript	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	213	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GAGGGTAACCGCAGAGCCTGG	0.557												
ENTPD3	956	broad.mit.edu	37	3	40457378	40457378	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:40457378G>A	uc003ckd.4	+	6	737	c.645G>A	c.(643-645)acG>acA	p.T215T	ENTPD3_uc010hhy.3_Silent_p.T215T|ENTPD3-AS1_uc003cke.4_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.	215						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TGGAAACCACGGGTGCCCTGG	0.537												
TRAK1	22906	broad.mit.edu	37	3	42261046	42261046	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:42261046G>A	uc003cky.3	+	14	2240	c.2024G>A	c.(2023-2025)cGc>cAc	p.R675H	TRAK1_uc011azi.2_Missense_Mutation_p.R654H|U4_uc021wwj.1_5'Flank	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	675					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ACCACCTGTCGCATCCTGCAT	0.552												
DOCK3	1795	broad.mit.edu	37	3	51418534	51418534	+	Silent	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:51418534C>T	uc011bds.2	+	52	5660	c.5637C>T	c.(5635-5637)gaC>gaT	p.D1879D		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1879						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGGTCTGGACGGCAGCAACT	0.617												
POLQ	10721	broad.mit.edu	37	3	121208947	121208947	+	Missense_Mutation	SNP	A	A	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:121208947A>C	uc003eee.4	-	15	2960	c.2831T>G	c.(2830-2832)tTt>tGt	p.F944C	POLQ_uc003eed.3_Missense_Mutation_p.F116C	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	944					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGAATCACTAAATATTGTGTT	0.289								DNA polymerases (catalytic subunits)				
COL6A5	256076	broad.mit.edu	37	3	130174391	130174391	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:130174391C>T	uc010htj.1	+	36	7165	c.6671C>T	c.(6670-6672)aCg>aTg	p.T2224M	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.T263M|COL6A5_uc010htk.1_Missense_Mutation_p.T263M	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2224	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTGTAAAGACGGAAGACAAT	0.353												
ARMC8	25852	broad.mit.edu	37	3	137964018	137964018	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:137964018G>A	uc003esa.1	+	12	1452	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	ARMC8_uc003erw.3_Missense_Mutation_p.R362Q|ARMC8_uc003erx.3_Missense_Mutation_p.R362Q|ARMC8_uc003ery.3_Missense_Mutation_p.R334Q|ARMC8_uc011bmf.1_Missense_Mutation_p.R345Q|ARMC8_uc011bmg.1_Missense_Mutation_p.R309Q|ARMC8_uc011bmh.1_Missense_Mutation_p.R303Q|ARMC8_uc003esb.1_Missense_Mutation_p.R334Q|ARMC8_uc003esc.1_Missense_Mutation_p.R134Q	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.	376							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GAAGACATCCGGAAGAAGGTG	0.522												
SERPINI1	5274	broad.mit.edu	37	3	167508226	167508226	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:167508226T>C	uc003ffa.4	+	2	515	c.317T>C	c.(316-318)aTg>aCg	p.M106T	SERPINI1_uc003ffb.4_Missense_Mutation_p.M106T	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	106					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.V105V(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						CAATATGTGATGAAAATTGCC	0.318												
MUC4	4585	broad.mit.edu	37	3	195515449	195515449	+	Missense_Mutation	SNP	A	A	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:195515449A>T	uc021xjp.1	-	1	3158	c.3002T>A	c.(3001-3003)gTa>gAa	p.V1001E	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1006	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.V1001A(1)|p.V1001E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGC	0.587												
ZNF330	27309	broad.mit.edu	37	4	142155058	142155058	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr4:142155058C>T	uc003iiq.4	+	9	1098	c.878C>T	c.(877-879)aCt>aTt	p.T293I	ZNF330_uc011chl.2_Missense_Mutation_p.T233I	NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN	Homo sapiens zinc finger protein 330 (ZNF330), mRNA.	293						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					GATTCAGATACTGAGTCATCA	0.433												
SPOCK3	50859	broad.mit.edu	37	4	167656162	167656162	+	Silent	SNP	A	A	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr4:167656162A>G	uc011cjq.1	-	9	1305	c.1248T>C	c.(1246-1248)gaT>gaC	p.D416D	SPOCK3_uc021xuf.1_Silent_p.D407D|SPOCK3_uc011cjr.1_Silent_p.D287D|SPOCK3_uc003iri.1_Silent_p.D407D|SPOCK3_uc011cjs.1_Silent_p.D356D|SPOCK3_uc003irj.1_Silent_p.D404D|SPOCK3_uc011cjt.1_Silent_p.D315D|SPOCK3_uc011cjp.2_Silent_p.D364D|SPOCK3_uc011cju.1_Silent_p.D311D|SPOCK3_uc011cjv.1_Silent_p.D309D	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	407	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.D415V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		cattcataatatcgtcttcat	0.358												
DNAH5	1767	broad.mit.edu	37	5	13766102	13766102	+	Missense_Mutation	SNP	A	A	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr5:13766102A>T	uc003jfd.2	-	58	10126	c.10084T>A	c.(10084-10086)Ttt>Att	p.F3362I	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3362	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTGTAAAAAGTTCCCTGCA	0.418									Kartagener syndrome			
PCDHAC2	56136	broad.mit.edu	37	5	140263516	140263516	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr5:140263516G>A	uc003lif.2	+	0	1663	c.1663G>A	c.(1663-1665)Gtg>Atg	p.V555M	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.V555M|PCDHAC2_uc003lid.3_Missense_Mutation_p.V555M	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	569	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGTGTTCGTGCTGGACGA	0.697												
PCDHGC5	9708	broad.mit.edu	37	5	140774370	140774370	+	Missense_Mutation	SNP	G	G	A	rs143444747	by1000genomes	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr5:140774370G>A	uc003lkd.2	+	0	2888	c.1990G>A	c.(1990-1992)Gtg>Atg	p.V664M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.V664M|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	666	Cadherin 6.				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)			CACCGTAGCCGTGGCTGACAG	0.627												
OR10C1	442194	broad.mit.edu	37	6	29408448	29408448	+	Missense_Mutation	SNP	G	G	T	rs74711365		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:29408448G>T	uc011dlp.2	+	0	733	c.656G>T	c.(655-657)cGt>cTt	p.R219L	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R219C(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCCTACGGGCGTATCCTCGTT	0.582												
KIF6	221458	broad.mit.edu	37	6	39513399	39513399	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:39513399G>A	uc003oot.2	-	10	1342	c.1247C>T	c.(1246-1248)gCg>gTg	p.A416V	KIF6_uc010jxa.1_Missense_Mutation_p.A207V|KIF6_uc011dua.1_Missense_Mutation_p.A416V|KIF6_uc010jxb.1_Missense_Mutation_p.A416V	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	416					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	p.G415G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACGCATATCCGCGCCAACCTC	0.363												
TMEM63B	55362	broad.mit.edu	37	6	44122464	44122464	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:44122464G>A	uc003owr.3	+	23	2407	c.2343G>A	c.(2341-2343)gtG>gtA	p.V781V	TMEM63B_uc003ows.3_Silent_p.V684V|TMEM63B_uc010jyz.3_Non-coding_Transcript	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	781						integral to membrane	nucleotide binding|protein binding	p.E780fs*28(1)|p.V781fs*27(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			ACTCAGAGGTGGACGGGGATG	0.607												
TDRD6	221400	broad.mit.edu	37	6	46656737	46656737	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:46656737C>T	uc003oyj.3	+	0	1126	c.872C>T	c.(871-873)aCg>aTg	p.T291M	TDRD6_uc010jze.3_Missense_Mutation_p.T291M	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	291					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CGGGGTTCCACGGGGACAGGG	0.637												
GSTA1	2938	broad.mit.edu	37	6	52659006	52659006	+	Missense_Mutation	SNP	C	C	T	rs1051733		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:52659006C>T	uc003paz.3	-	4	443	c.331G>A	c.(331-333)Gta>Ata	p.V111I	GSTA1_uc021zan.1_Missense_Mutation_p.V111I	NM_145740	NP_665683	P08263	GSTA1_HUMAN	Homo sapiens glutathione S-transferase alpha 1 (GSTA1), mRNA.	111	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.P110P(1)		large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	GGTGGACATACGGGCAGAAGG	0.393												
DPPA5	340168	broad.mit.edu	37	6	74063914	74063914	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:74063914G>A	uc003pgs.2	-	0	86	c.35C>T	c.(34-36)cCg>cTg	p.P12L		NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN	Homo sapiens developmental pluripotency associated 5 (DPPA5), mRNA.	12					multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						TTTCACCCACGGCGGGATATG	0.582												
KIAA1009	22832	broad.mit.edu	37	6	84911454	84911454	+	Splice_Site	SNP	C	C	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:84911454C>G	uc010kbp.3	-	8	815	c.718_splice	c.e8+1	p.V240_splice	KIAA1009_uc003pkj.4_Splice_Site_p.V164_splice|KIAA1009_uc003pkk.2_Splice_Site_p.V240_splice	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	240					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		ATAATATTTACCATTAGCAAG	0.264												
RAET1G	353091	broad.mit.edu	37	6	150240886	150240886	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:150240886G>A	uc010kii.1	-	1	220	c.152C>T	c.(151-153)gCg>gTg	p.A51V	RAET1G_uc003qnm.2_Non-coding_Transcript	NM_001001788	NP_001001788	Q6H3X3	RET1G_HUMAN	Homo sapiens retinoic acid early transcript 1G (RAET1G), mRNA.	51	MHC class I alpha-1 like.				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding	p.A51A(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		GCCTTGAACCGCACACCACCG	0.532												
HECW1	23072	broad.mit.edu	37	7	43484403	43484403	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr7:43484403G>A	uc003tid.1	+	10	2237	c.1632G>A	c.(1630-1632)acG>acA	p.T544T	HECW1_uc011kbi.1_Silent_p.T544T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	544					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGCTGGAGACGGTGATCGCGT	0.672												
SEMA3C	10512	broad.mit.edu	37	7	80433421	80433421	+	Splice_Site	SNP	C	C	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr7:80433421C>G	uc011kgw.2	-	8	934	c.855_splice	c.e8+1	p.P285_splice	SEMA3C_uc003uhj.3_Splice_Site_p.P267_splice|SEMA3C_uc011kgx.1_Splice_Site_p.P119_splice	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	267	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTAATACTTACAGGACATATT	0.323												
PCLO	27445	broad.mit.edu	37	7	82585982	82585982	+	Silent	SNP	A	A	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr7:82585982A>G	uc003uhx.2	-	4	4576	c.4287T>C	c.(4285-4287)gaT>gaC	p.D1429D	PCLO_uc003uhv.2_Silent_p.D1429D	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1360					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.D1429N(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGACTTTTCATCAGCAAGTG	0.398												
ADAM28	10863	broad.mit.edu	37	8	24178776	24178776	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr8:24178776T>C	uc003xdy.3	+	7	777	c.694T>C	c.(694-696)Ttt>Ctt	p.F232L	ADAM28_uc003xdx.3_Missense_Mutation_p.F232L|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Intron	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	232	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAAGAGGGTATTTGAGATGGC	0.323												
ST18	9705	broad.mit.edu	37	8	53044717	53044717	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr8:53044717C>T	uc003xqz.2	-	16	2623	c.2467G>A	c.(2467-2469)Ggc>Agc	p.G823S	ST18_uc011ldq.1_Missense_Mutation_p.G470S|ST18_uc011ldr.1_Missense_Mutation_p.G788S|ST18_uc011lds.1_Missense_Mutation_p.G728S|ST18_uc003xra.2_Missense_Mutation_p.G823S	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	823						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGACCTTGGCCATCACACCCT	0.498												
ZNF623	9831	broad.mit.edu	37	8	144732707	144732707	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr8:144732707T>C	uc003yzd.2	+	0	754	c.665T>C	c.(664-666)cTg>cCg	p.L222P	ZNF623_uc011lkp.1_Missense_Mutation_p.L182P|ZNF623_uc003yzc.2_Missense_Mutation_p.L182P	NM_014789	NP_055604	O75123	ZN623_HUMAN	Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	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;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGTTCAGACCTGATTAGGCAC	0.478												
PLEC	5339	broad.mit.edu	37	8	144994985	144994985	+	Nonsense_Mutation	SNP	G	G	A	rs137853161		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr8:144994985G>A	uc003zaf.1	-	31	9585	c.9415C>T	c.(9415-9417)Cga>Tga	p.R3139*	PLEC_uc003zab.1_Nonsense_Mutation_p.R3002*|PLEC_uc003zac.1_Nonsense_Mutation_p.R3006*|PLEC_uc003zad.2_Nonsense_Mutation_p.R3002*|PLEC_uc003zae.1_Nonsense_Mutation_p.R2970*|PLEC_uc003zag.1_Nonsense_Mutation_p.R2980*|PLEC_uc003zah.2_Nonsense_Mutation_p.R2988*|PLEC_uc003zaj.2_Nonsense_Mutation_p.R3029*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3139	Globular 2.				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						CGCTCACCTCGCTGCAGCTGC	0.687												
HEMGN	55363	broad.mit.edu	37	9	100692686	100692686	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr9:100692686C>T	uc004axy.3	-	2	1099	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	HEMGN_uc004axz.3_Missense_Mutation_p.E331K	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	331					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ACAATAATTTCGTTACATGTT	0.358												
OR13C3	138803	broad.mit.edu	37	9	107298286	107298286	+	Missense_Mutation	SNP	G	G	A	rs145157195		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr9:107298286G>A	uc004bcb.1	-	0	809	c.809C>T	c.(808-810)aCg>aTg	p.T270M		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AGCTGAGCACGTGGAAAATGC	0.428												
OR13C8	138802	broad.mit.edu	37	9	107331551	107331551	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr9:107331551T>C	uc011lvo.2	+	0	103	c.103T>C	c.(103-105)Tac>Cac	p.Y35H		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TTTGTGGATGTACCTGATGAT	0.443												
FAM48B1	100130302	broad.mit.edu	37	X	24381779	24381779	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:24381779C>T	uc011mjx.2	+	0	902	c.902C>T	c.(901-903)gCc>gTc	p.A301V		NM_001136234	NP_001129706			Homo sapiens family with sequence similarity 48, member B1 (FAM48B1), mRNA.											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(1)|skin(1)	26						TGTGATTTGGCCGTGCCTTCA	0.512												
DMD	1756	broad.mit.edu	37	X	32380981	32380981	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:32380981C>T	uc004dda.1	-	36	5493	c.5249G>A	c.(5248-5250)aGg>aAg	p.R1750K	DMD_uc004dcw.2_Missense_Mutation_p.R406K|DMD_uc004dcx.2_Missense_Mutation_p.R409K|DMD_uc004dcz.2_Missense_Mutation_p.R1627K|DMD_uc004dcy.1_Missense_Mutation_p.R1746K|DMD_uc004ddb.1_Missense_Mutation_p.R1742K|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1750	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TACTAATTTCCTGCAGTGGTC	0.468												
PCDH19	57526	broad.mit.edu	37	X	99661954	99661954	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:99661954T>C	uc010nmz.3	-	0	3318	c.1642A>G	c.(1642-1644)Acg>Gcg	p.T548A	PCDH19_uc004efw.4_Missense_Mutation_p.T548A|PCDH19_uc004efx.4_Missense_Mutation_p.T548A	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	548	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ACCCGCACCGTAGCGTTGCTT	0.587												
STAG2	10735	broad.mit.edu	37	X	123202507	123202507	+	Splice_Site	SNP	G	G	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:123202507G>T	uc004eua.3	+	24	2762	c.2358_splice	c.e24+1	p.Q786_splice	STAG2_uc004etz.4_Splice_Site_p.Q786_splice|STAG2_uc004eub.3_Splice_Site_p.Q786_splice|STAG2_uc004euc.3_Splice_Site_p.Q786_splice|STAG2_uc004eud.3_Splice_Site_p.Q786_splice|STAG2_uc004eue.3_Splice_Site_p.Q786_splice	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	786					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TAAGGAACAGGTTAGTAATTA	0.313												
GABRA3	2556	broad.mit.edu	37	X	151533006	151533006	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:151533006T>C	uc010ntk.1	-	1	277	c.37A>G	c.(37-39)Agc>Ggc	p.S13G		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	13					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATCCCAAGGCTGGTCATGTAA	0.443												
