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
MFN2	9927	broad.mit.edu	37	1	12052619	12052619	+	Nonsense_Mutation	SNP	C	C	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:12052619C>G	uc001atn.4	+	3	636	c.183C>G	c.(181-183)taC>taG	p.Y61*	MFN2_uc009vni.3_Nonsense_Mutation_p.Y61*	NM_014874	NP_055689	O95140	MFN2_HUMAN	Homo sapiens mitofusin 2 (MFN2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	61					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CAGACACGTACAGGAATGCAG	0.562												
JAK1	3716	broad.mit.edu	37	1	65313353	65313353	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:65313353C>A	uc001dbu.1	-	12	2010	c.1761G>T	c.(1759-1761)gaG>gaT	p.E587D	JAK1_uc009wam.1_Missense_Mutation_p.E587D|JAK1_uc009wal.1_5'Flank	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	587	Protein kinase 1.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCCCAAGGTGCTCGCCCTGAG	0.507			Mis		ALL							
EPHX4	253152	broad.mit.edu	37	1	92515977	92515977	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:92515977G>C	uc001don.2	+	5	812	c.708_splice	c.e5+1	p.K236_splice		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.	236						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						ATGATTTCAAGGTAAGCCAAA	0.269												
EXTL2	2135	broad.mit.edu	37	1	101339636	101339636	+	Silent	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:101339636A>G	uc001dtk.1	-	4	1192	c.855T>C	c.(853-855)caT>caC	p.H285H	EXTL2_uc001dtl.1_Silent_p.H285H|EXTL2_uc010ouk.1_Silent_p.H272H|EXTL2_uc001dtm.1_Silent_p.H284H	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN	Homo sapiens exostoses (multiple)-like 2 (EXTL2), transcript variant 1, mRNA.	285					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	p.W284*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		GCTCAGCTCGATGCCACATTC	0.398												
NUP210L	91181	broad.mit.edu	37	1	154125256	154125256	+	Missense_Mutation	SNP	G	G	C	rs150389273	by1000genomes	TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:154125256G>C	uc001fdw.3	-	1	368	c.296C>G	c.(295-297)aCg>aGg	p.T99R	NUP210L_uc010peh.2_Missense_Mutation_p.T99R	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	99						integral to membrane		p.T99T(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TATCGGTTGCGTAGATTCAGC	0.423												
HMCN1	83872	broad.mit.edu	37	1	185878606	185878606	+	Silent	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:185878606G>A	uc001grq.1	+	4	988	c.759G>A	c.(757-759)ggG>ggA	p.G253G		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	253					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTTGAGTGGGCCTTCTCCAA	0.363												
CACNA1S	779	broad.mit.edu	37	1	201029914	201029914	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:201029914G>T	uc001gvv.3	-	25	3513	c.3286C>A	c.(3286-3288)Cgc>Agc	p.R1096S		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1096					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.R1096H(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTCAGTGGGCGGGCCTTCAGG	0.532												
EPRS	2058	broad.mit.edu	37	1	220146600	220146600	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:220146600G>C	uc001hly.1	-	28	4494	c.4224C>G	c.(4222-4224)atC>atG	p.I1408M	RNU5F-1_uc021pjd.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	1408	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	GGGTGACCTGGATGTCTTCCA	0.423												
ANKRD16	54522	broad.mit.edu	37	10	5929963	5929963	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr10:5929963C>T	uc010qat.2	-	1	925	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	ANKRD16_uc009xie.3_Missense_Mutation_p.A128T|ANKRD16_uc009xif.3_Missense_Mutation_p.A128T|ANKRD16_uc001iiq.3_Missense_Mutation_p.A128T|FBXO18_uc001iir.3_5'Flank|FBXO18_uc001iis.3_5'Flank|FBXO18_uc009xig.3_5'Flank	NM_019046	NP_061919	Q6P6B7	ANR16_HUMAN	Homo sapiens ankyrin repeat domain 16 (ANKRD16), transcript variant 1, mRNA.	128			A -> G (in dbSNP:rs2296136).					p.A128G(1)|p.G127G(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						AGTGGATTGGCGCCATGTTCC	0.552												
ERCC6	2074	broad.mit.edu	37	10	50690763	50690763	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr10:50690763C>T	uc001jhs.4	-	9	2293	c.2139G>A	c.(2137-2139)atG>atA	p.M713I	ERCC6_uc010qgr.2_Missense_Mutation_p.M83I|ERCC6_uc001jhr.4_Missense_Mutation_p.M113I	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	713					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	p.M713T(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AATATCCCCCCATGGTGATGG	0.408								Direct reversal of damage;Nucleotide excision repair (NER)				
HECTD2	143279	broad.mit.edu	37	10	93244394	93244394	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr10:93244394A>G	uc010qnm.1	+	9	1064	c.964A>G	c.(964-966)Aaa>Gaa	p.K322E	LOC100188947_uc010qnl.2_Intron|HECTD2_uc001khl.2_Missense_Mutation_p.K318E|HECTD2_uc001khm.2_Non-coding_Transcript|HECTD2_uc009xty.1_5'UTR|HECTD2_uc001khn.1_5'UTR	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	Homo sapiens HECT domain containing 2 (HECTD2), transcript variant 1, mRNA.	318					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ATCAGCCGCTAAAGTGTTGGC	0.333												
NUP98	4928	broad.mit.edu	37	11	3744479	3744479	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr11:3744479T>C	uc001lyh.3	-	15	2475	c.2054A>G	c.(2053-2055)gAa>gGa	p.E685G	NUP98_uc001lyi.3_Missense_Mutation_p.E685G|NUP98_uc001lyj.2_Missense_Mutation_p.E685G|NUP98_uc001lyk.2_Missense_Mutation_p.E702G	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	702					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ACTGCTTCCTTCCAGCCCATT	0.433			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML							
GALNTL4	374378	broad.mit.edu	37	11	11470460	11470460	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr11:11470460C>T	uc001mjo.2	-	1	680	c.259G>A	c.(259-261)Gca>Aca	p.A87T		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	87						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		TCGGCCTCTGCCTCCTCAGGC	0.602												
CDC42BPG	55561	broad.mit.edu	37	11	64602005	64602005	+	Silent	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr11:64602005C>T	uc001obs.4	-	18	2220	c.2220G>A	c.(2218-2220)tcG>tcA	p.S740S		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	740					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CCAGCCTGGCCGAGGCCTCCA	0.672												
CREBZF	58487	broad.mit.edu	37	11	85375510	85375510	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr11:85375510G>C	uc001pas.2	-	0	673	c.410C>G	c.(409-411)tCg>tGg	p.S137W	CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.	137					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				GCCGCTATCCGAGCCTCCGCC	0.657												
RPL13AP20	387841	broad.mit.edu	37	12	13028826	13028826	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr12:13028826G>A	uc010sho.2	+	0	416	c.394G>A	c.(394-396)Gca>Aca	p.A132T						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		TCTGAAGCCTGCAAGAAAGTT	0.567												
C12orf60	144608	broad.mit.edu	37	12	14975979	14975979	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr12:14975979T>G	uc001rcj.4	+	1	314	c.110T>G	c.(109-111)tTt>tGt	p.F37C	C12orf60_uc021qvq.1_Missense_Mutation_p.F37C	NM_175874	NP_787070	Q5U649	CL060_HUMAN	Homo sapiens chromosome 12 open reading frame 60 (C12orf60), mRNA.	37										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						ACTGAATTGTTTAGCCGCAGT	0.343												
LEMD3	23592	broad.mit.edu	37	12	65632357	65632357	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr12:65632357A>G	uc001ssl.2	+	4	1797	c.1771A>G	c.(1771-1773)Ata>Gta	p.I591V	LEMD3_uc009zqo.2_Missense_Mutation_p.I590V	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	591					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		AGATGTTGGAATAAGGTAAAG	0.313												
ANO4	121601	broad.mit.edu	37	12	101480543	101480543	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr12:101480543G>C	uc010svm.1	+	16	2214	c.1642G>C	c.(1642-1644)Gtt>Ctt	p.V548L	ANO4_uc001thw.2_Missense_Mutation_p.V513L|ANO4_uc001thx.2_Missense_Mutation_p.V548L|ANO4_uc001thy.2_Missense_Mutation_p.V68L	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	548						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TAACTCTCAGGTTGCAACCAC	0.493										HNSCC(74;0.22)		
MPHOSPH8	54737	broad.mit.edu	37	13	20233374	20233374	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr13:20233374A>G	uc001umh.3	+	6	1837	c.1736A>G	c.(1735-1737)tAt>tGt	p.Y579C	MPHOSPH8_uc001umg.3_Missense_Mutation_p.Y579C	NM_017520	NP_059990	Q99549	MPP8_HUMAN	Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA.	579					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		AATGGGGATTATATTACTGTA	0.284												
PAN3	255967	broad.mit.edu	37	13	28794497	28794497	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr13:28794497A>G	uc001urz.3	+	5	1134	c.982A>G	c.(982-984)Act>Gct	p.T328A	PAN3_uc010tdo.1_Missense_Mutation_p.T328A|PAN3_uc001ury.3_5'UTR|PAN3_uc001urx.3_Missense_Mutation_p.T128A	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	328	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	p.R327C(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AAGCCCTGCTACTGCTGGATT	0.438												
FRY	10129	broad.mit.edu	37	13	32808846	32808846	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr13:32808846A>G	uc001utx.3	+	41	6159	c.5663A>G	c.(5662-5664)gAc>gGc	p.D1888G	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1888					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCCTTATCTGACCTTCTCTCA	0.517												
RAP2A	5911	broad.mit.edu	37	13	98086962	98086962	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr13:98086962C>G	uc001vnd.3	+	0	488	c.238C>G	c.(238-240)Ctc>Gtc	p.L80V		NM_021033	NP_066361	P10114	RAP2A_HUMAN	Homo sapiens RAP2A, member of RAS oncogene family (RAP2A), mRNA.	80					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			GGGCTTCATCCTCGTCTACAG	0.632												
OSGEP	55644	broad.mit.edu	37	14	20922812	20922812	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr14:20922812C>T	uc001vxf.3	-	0	456	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	APEX1_uc001vxg.3_5'Flank|APEX1_uc001vxh.3_5'Flank|APEX1_uc001vxi.3_5'Flank|APEX1_uc021rnr.1_5'Flank	NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	Homo sapiens O-sialoglycoprotein endopeptidase (OSGEP), mRNA.	11					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		ATCTTATTGGCGCTGCCTTCA	0.632												
C14orf166B	145497	broad.mit.edu	37	14	77292858	77292858	+	Nonsense_Mutation	SNP	C	C	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr14:77292858C>G	uc001xsx.2	+	0	134	c.20C>G	c.(19-21)tCa>tGa	p.S7*	C14orf166B_uc010asn.1_5'UTR|C14orf166B_uc001xsw.2_Non-coding_Transcript|C14orf166B_uc010aso.1_Non-coding_Transcript|C14orf166B_uc010tvg.1_Non-coding_Transcript	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA.	7										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CAATTCCCATCAAAGCCTACT	0.547												
HERC2	8924	broad.mit.edu	37	15	28474893	28474893	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr15:28474893C>A	uc001zbj.3	-	31	5016	c.4910G>T	c.(4909-4911)aGt>aTt	p.S1637I		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1637					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGCAATTGTACTGAGGAGTGG	0.428												
MYO1E	4643	broad.mit.edu	37	15	59502739	59502739	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr15:59502739C>G	uc002aga.3	-	12	1708	c.1336G>C	c.(1336-1338)Gta>Cta	p.V446L		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	Homo sapiens myosin IE (MYO1E), mRNA.	446	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	p.I445I(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		AGGTCACATACGATTTTATTA	0.348												
WASH3P	374666	broad.mit.edu	37	15	102516424	102516424	+	Silent	SNP	G	G	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr15:102516424G>T	uc002cdi.3	+	10	2170	c.750G>T	c.(748-750)ccG>ccT	p.P250P	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.P449P(4)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGCCGCCACCGCAGCAGCCAC	0.647												
C16orf59	80178	broad.mit.edu	37	16	2512205	2512205	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr16:2512205G>A	uc002cqh.3	+	5	746	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	C16orf59_uc002cqg.2_Missense_Mutation_p.A72T|C16orf59_uc002cqi.3_Missense_Mutation_p.A72T|C16orf59_uc010uwb.2_Missense_Mutation_p.A72T	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	239										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				TGCCGCCGCTGCCAAAACCCA	0.612												
TMC5	79838	broad.mit.edu	37	16	19477522	19477522	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr16:19477522G>A	uc002dgc.4	+	8	2353	c.1604G>A	c.(1603-1605)tGc>tAc	p.C535Y	TMC5_uc010vaq.2_Missense_Mutation_p.C535Y|TMC5_uc002dgb.4_Missense_Mutation_p.C535Y|TMC5_uc010var.2_Missense_Mutation_p.C535Y|TMC5_uc002dgd.1_Missense_Mutation_p.C289Y|TMC5_uc002dge.4_Missense_Mutation_p.C289Y|TMC5_uc002dgf.4_Missense_Mutation_p.C218Y|TMC5_uc002dgg.4_Missense_Mutation_p.C176Y	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	535						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ATCGGAGCATGCTTGACCACC	0.458												
SCNN1B	6338	broad.mit.edu	37	16	23360058	23360058	+	Silent	SNP	C	C	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr16:23360058C>A	uc002dln.3	+	1	314	c.138C>A	c.(136-138)ccC>ccA	p.P46P		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	46					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GTGAGGGGCCCAAGAAGAAAG	0.612												
OR1A2	26189	broad.mit.edu	37	17	3101531	3101531	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:3101531G>C	uc002fvd.1	+	0	719	c.719G>C	c.(718-720)tGt>tCt	p.C240S		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 2 (OR1A2), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TTCTGCACCTGTGGCTCCCAC	0.438												
DLG4	1742	broad.mit.edu	37	17	7099833	7099833	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:7099833G>A	uc010vtn.2	-	8	1225	c.965C>T	c.(964-966)gCg>gTg	p.A322V	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Missense_Mutation_p.A379V|DLG4_uc002get.4_Missense_Mutation_p.A425V|DLG4_uc010vto.2_Missense_Mutation_p.A422V	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	382	PDZ 3.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CGTCTGACCCGCATTCTTCAG	0.542												
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:7578406C>T	uc002gim.2	-	4	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
SRSF1	6426	broad.mit.edu	37	17	56083327	56083327	+	Silent	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:56083327A>G	uc002ivi.3	-	2	596	c.387T>C	c.(385-387)ccT>ccC	p.P129P	SRSF1_uc002ivj.3_Silent_p.P129P	NM_006924	NP_008855	Q07955	SRSF1_HUMAN	Homo sapiens serine/arginine-rich splicing factor 1 (SRSF1), transcript variant 1, mRNA.	129	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTCCACTTGGAGGCAGTCCTG	0.388												
KCNH6	81033	broad.mit.edu	37	17	61613357	61613357	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:61613357G>A	uc002jay.3	+	5	1509	c.1429G>A	c.(1429-1431)Gtg>Atg	p.V477M	KCNH6_uc002jax.1_Missense_Mutation_p.V477M|KCNH6_uc010wpl.2_Missense_Mutation_p.V354M|KCNH6_uc010wpm.2_Missense_Mutation_p.V477M|KCNH6_uc002jaz.1_Missense_Mutation_p.V424M	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	477					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CCTCACCAGCGTGGGCTTCGG	0.602												
FAM20A	54757	broad.mit.edu	37	17	66551780	66551780	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:66551780C>T	uc002jho.3	-	1	797	c.509G>A	c.(508-510)cGc>cAc	p.R170H	FAM20A_uc010wqp.2_Missense_Mutation_p.R32H|FAM20A_uc002jhn.3_5'UTR	NM_017565	NP_001230675	Q96MK3	FA20A_HUMAN	Homo sapiens family with sequence similarity 20, member A (FAM20A), transcript variant 1, mRNA.	170						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GAGCCCATGGCGGTTAATACC	0.562												
DSC2	1824	broad.mit.edu	37	18	28654745	28654745	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr18:28654745C>G	uc002kwl.4	-	11	2246	c.1792G>C	c.(1792-1794)Gat>Cat	p.D598H	DSC2_uc002kwk.4_Missense_Mutation_p.D598H	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	598	Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCATCAGGATCAACCGCAACA	0.428												
GALNT1	2589	broad.mit.edu	37	18	33234759	33234759	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr18:33234759G>A	uc010dmu.3	+	1	186	c.133G>A	c.(133-135)Gga>Aga	p.G45R	GALNT1_uc002kyz.4_5'UTR|GALNT1_uc002kza.2_Missense_Mutation_p.G45R|GALNT1_uc002kzb.3_Missense_Mutation_p.G45R	NM_020474	NP_065207	Q10472	GALT1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA.	45					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						ACTTCCTGCTGGAGATGGTGA	0.338												
APC2	10297	broad.mit.edu	37	19	1468647	1468647	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr19:1468647G>A	uc002lsr.1	+	14	5555	c.5347G>A	c.(5347-5349)Ggg>Agg	p.G1783R	APC2_uc002lss.1_Missense_Mutation_p.G1365R|APC2_uc002lst.1_Missense_Mutation_p.G1783R|APC2_uc002lsu.1_Missense_Mutation_p.G1782R|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	1783	Pro-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GACCACGCCCGGGGTGCCAGC	0.721												
CDC37	11140	broad.mit.edu	37	19	10505756	10505756	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr19:10505756C>T	uc002mof.1	-	4	783	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_007065	NP_008996	Q16543	CDC37_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae) (CDC37), mRNA.	223					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		AGGCTCTTGGCCAGCTCCAGG	0.592												
FAM129C	199786	broad.mit.edu	37	19	17649991	17649991	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr19:17649991G>A	uc021uqj.1	+	6	859	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	FAM129C_uc021uqi.1_Missense_Mutation_p.A241T|FAM129C_uc002ngy.4_5'UTR|FAM129C_uc010xpu.2_5'UTR|FAM129C_uc002ngz.4_Non-coding_Transcript|FAM129C_uc010eaw.3_5'UTR|FAM129C_uc002nhb.3_5'Flank	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.	241										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TGCTGCCCGGGCCTTCCTGGA	0.697												
CD177	57126	broad.mit.edu	37	19	43865711	43865711	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr19:43865711G>T	uc002owi.3	+	8	1100	c.1058G>T	c.(1057-1059)gGg>gTg	p.G353V	CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	354	UPAR/Ly6 2.				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TGTTATGATGGGTACATTCAT	0.622												
IFT172	26160	broad.mit.edu	37	2	27688614	27688614	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:27688614G>A	uc002rku.3	-	17	1880	c.1829_splice	c.e17+1	p.R610_splice		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	610					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GCCTCTCACCGGATGTAGTTG	0.537												
GCC2	9648	broad.mit.edu	37	2	109103075	109103075	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:109103075G>A	uc002tec.3	+	15	4055	c.3901G>A	c.(3901-3903)Gca>Aca	p.A1301T	GCC2_uc002ted.3_Missense_Mutation_p.A1200T	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	1301					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	p.A1301V(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GAGAGTGACAGCACTACAGGA	0.512												
LRP2	4036	broad.mit.edu	37	2	170026272	170026272	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:170026272T>C	uc002ues.3	-	59	11650	c.11437A>G	c.(11437-11439)Agt>Ggt	p.S3813G		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3813	LDL-receptor class A 33.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTCAGTTCACTGTGTACACAA	0.438												
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma							
RHBDD1	84236	broad.mit.edu	37	2	227729644	227729644	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:227729644T>C	uc021vxo.1	+	3	759	c.235T>C	c.(235-237)Tgg>Cgg	p.W79R	RHBDD1_uc002voi.3_Missense_Mutation_p.W79R|RHBDD1_uc010fxc.3_Missense_Mutation_p.W79R	NM_001167608	NP_115652	Q8TEB9	RHBD1_HUMAN	Homo sapiens rhomboid domain containing 1 (RHBDD1), transcript variant 2, mRNA.	79						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TGCTGATGATTGGCATTTGTA	0.438												
BOK	666	broad.mit.edu	37	2	242509549	242509549	+	Frame_Shift_Del	DEL	G	G	-			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:242509549delG	uc002wbq.3	+	3	651	c.359delG	c.(358-360)tggfs	p.W120fs	BOK_uc002wbr.3_5'Flank	NM_032515	NP_115904	Q9UMX3	BOK_HUMAN	Homo sapiens BCL2-related ovarian killer (BOK), mRNA.	120					activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis	mitochondrial membrane|nucleus				large_intestine(1)|lung(3)|ovary(1)	5		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)		GGCATCACGTGGGGCAAGGTG	0.657												
CRYBA4	1413	broad.mit.edu	37	22	27018564	27018564	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr22:27018564A>G	uc003acz.4	+	1	39	c.4A>G	c.(4-6)Acc>Gcc	p.T2A		NM_001886	NP_001877	P53673	CRBA4_HUMAN	Homo sapiens crystallin, beta A4 (CRYBA4), mRNA.	2	N-terminal arm.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GGCCACAATGACCCTGCAATG	0.562												
APOBEC3F	200316	broad.mit.edu	37	22	39436982	39436982	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr22:39436982G>A	uc021wpr.1	+	1	310	c.17_splice	c.e1+1	p.R6_splice	APOBEC3F_uc003awv.3_Splice_Site_p.R6_splice|APOBEC3F_uc011aog.1_Splice_Site_p.R6_splice|APOBEC3F_uc003aww.3_Splice_Site_p.R6_splice	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.	6					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					CCTCACTTCAGGTACCGCTGC	0.647												
TATDN2	9797	broad.mit.edu	37	3	10312062	10312064	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr3:10312062_10312064delGCA	uc011atr.2	+	3	1777_1779	c.1196_1198delGCA	c.(1195-1200)ggcagc>ggc	p.S402del	TATDN2_uc003bvg.2_In_Frame_Del_p.S402del|TATDN2_uc003bvf.3_In_Frame_Del_p.S402del|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	402						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CCCTCCACAGGCAGCAGCAGCAA	0.552												
DOCK3	1795	broad.mit.edu	37	3	51387773	51387773	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr3:51387773G>C	uc011bds.2	+	39	4080	c.4057G>C	c.(4057-4059)Gag>Cag	p.E1353Q		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1353	DHR-2.					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)		CCTGGAGCCTGAGTTCTTTCG	0.448												
TNFSF10	8743	broad.mit.edu	37	3	172232698	172232698	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr3:172232698T>C	uc003fid.3	-	1	346	c.223A>G	c.(223-225)Agc>Ggc	p.S75G	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_Missense_Mutation_p.S75G	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	75					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CAGCAGGGGCTGTTCATACTC	0.498												
SPATA16	83893	broad.mit.edu	37	3	172835032	172835032	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr3:172835032G>C	uc003fin.4	-	1	674	c.490C>G	c.(490-492)Cat>Gat	p.H164D		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	164					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTGAAATTATGTACACTCAAA	0.448												
MUC4	4585	broad.mit.edu	37	3	195511959	195511959	+	Silent	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr3:195511959G>A	uc021xjp.1	-	1	6648	c.6492C>T	c.(6490-6492)acC>acT	p.T2164T	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.	943					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			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)		AGGAAGTGTCGGTGACAGGAA	0.577												
GABRA2	2555	broad.mit.edu	37	4	46252347	46252347	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr4:46252347G>A	uc011bzc.1	-	9	1761	c.1349C>T	c.(1348-1350)cCt>cTt	p.P450L	GABRA2_uc003gxc.3_Missense_Mutation_p.P445L|GABRA2_uc010igc.2_Missense_Mutation_p.P445L			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	445					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.V449V(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCCTAATACAGGTTCTCTGTT	0.338												
FAM175A	84142	broad.mit.edu	37	4	84388619	84388641	+	Frame_Shift_Del	DEL	TTGTAATGAAGCATACATTTCAT	TTGTAATGAAGCATACATTTCAT	-			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr4:84388619_84388641delTTGTAATGAAGCATACATTTCAT	uc003hou.2	-	6	712_734	c.647_669delATGAAATGTATGCTTCATTACAA	c.(646-669)aatgaaatgtatgcttcattacaafs	p.N216fs	FAM175A_uc003hot.2_Frame_Shift_Del_p.N44fs|FAM175A_uc003hov.2_Frame_Shift_Del_p.N107fs	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN	Homo sapiens family with sequence similarity 175, member A (FAM175A), mRNA.	216					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TTAATTCCTCTTGTAATGAAGCATACATTTCATTTATCTTATG	0.309												
SEC24B	10427	broad.mit.edu	37	4	110442579	110442579	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr4:110442579A>G	uc003hzk.3	+	13	2360	c.2305A>G	c.(2305-2307)Ata>Gta	p.I769V	SEC24B_uc003hzl.3_Missense_Mutation_p.I734V|SEC24B_uc011cfp.2_Missense_Mutation_p.I799V|SEC24B_uc011cfq.2_Missense_Mutation_p.I768V|SEC24B_uc011cfr.2_Missense_Mutation_p.I733V	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	769					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTCTCAGCTTATAAAAGACTT	0.343												
MYOZ2	51778	broad.mit.edu	37	4	120085521	120085521	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr4:120085521G>C	uc003icp.4	+	4	745	c.532G>C	c.(532-534)Gaa>Caa	p.E178Q		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	Homo sapiens myozenin 2 (MYOZ2), mRNA.	178							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AGGAAAGGCAGAACTGCCTGA	0.418												
PCDHAC2	56144	broad.mit.edu	37	5	140189035	140189035	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr5:140189035A>G	uc003lhi.2	+	0	2364	c.2263A>G	c.(2263-2265)Agg>Ggg	p.R755G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.R755G|PCDHAC2_uc011daa.2_Missense_Mutation_p.R755G	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	792					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)			GCAGCAGAGGAGGCCGAGGGT	0.662												
CLK4	57396	broad.mit.edu	37	5	178040532	178040532	+	Silent	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr5:178040532C>T	uc003mjf.1	-	6	876	c.768G>A	c.(766-768)ctG>ctA	p.L256L	CLK4_uc003mjg.1_Silent_p.L220L|CLK4_uc010jku.1_Silent_p.L76L|CLK4_uc003mjh.1_Silent_p.L76L|CLK4_uc010jkv.1_Non-coding_Transcript|CLK4_uc011dgg.1_Silent_p.L256L|CLK4_uc011dgh.1_Silent_p.L76L	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	Homo sapiens CDC-like kinase 4 (CLK4), mRNA.	256	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TTTGAAATGGCAGAAAGCTGT	0.328												
KIF13A	63971	broad.mit.edu	37	6	17831467	17831467	+	Splice_Site	SNP	C	C	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:17831467C>A	uc003ncg.4	-	13	1427	c.1267_splice	c.e13-1	p.E423_splice	KIF13A_uc003ncf.3_Splice_Site_p.E423_splice|KIF13A_uc003nch.4_Splice_Site_p.E423_splice|KIF13A_uc003nci.4_Splice_Site_p.E423_splice|KIF13A_uc003ncj.3_Splice_Site_p.E99_splice	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	423					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTTGTCTTTCCTGTGCACAAA	0.438												
BTNL2	56244	broad.mit.edu	37	6	32370963	32370963	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:32370963T>C	uc003obg.1	-	2	458	c.458A>G	c.(457-459)gAg>gGg	p.E153G	BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	153	Ig-like V-type 2.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCCAGGTCCCTCCATGTGGAT	0.607												
DEF6	50619	broad.mit.edu	37	6	35280172	35280172	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:35280172G>A	uc003okk.3	+	3	556	c.517G>A	c.(517-519)Gcc>Acc	p.A173T	DEF6_uc010jvs.3_Missense_Mutation_p.A173T|DEF6_uc010jvt.3_Intron	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.	173						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GGCCCAGGTGGCCCAGACCAC	0.647												
PKHD1	5314	broad.mit.edu	37	6	51799070	51799070	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:51799070C>T	uc003pah.1	-	36	6235	c.5959G>A	c.(5959-5961)Gcc>Acc	p.A1987T	PKHD1_uc010jzn.1_Missense_Mutation_p.A12T|PKHD1_uc003pai.3_Missense_Mutation_p.A1987T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1987	G8 1.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.A1987T(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACAAGGATGGCGTGTGCCCTG	0.542											OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MTHFD1L	25902	broad.mit.edu	37	6	151336802	151336802	+	Silent	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:151336802C>T	uc021zgs.1	+	23	2706	c.2562C>T	c.(2560-2562)agC>agT	p.S854S	MTHFD1L_uc011een.2_Non-coding_Transcript|MTHFD1L_uc003qob.3_Silent_p.S853S|MTHFD1L_uc021zgt.1_Silent_p.S788S|MTHFD1L_uc003qoc.3_Silent_p.S801S	NM_001242767	NP_001229696	Q6UB35	C1TM_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like (MTHFD1L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	853	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GTAAAAGAAGCCGATTCCAGT	0.493												
ADAP1	11033	broad.mit.edu	37	7	943765	943765	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:943765T>C	uc003sjo.4	-	5	839	c.646A>G	c.(646-648)Aag>Gag	p.K216E	ADAP1_uc003sjm.4_Missense_Mutation_p.K42E|ADAP1_uc011jvs.2_Missense_Mutation_p.K121E|ADAP1_uc003sjn.4_Missense_Mutation_p.K144E|ADAP1_uc010ksc.3_Missense_Mutation_p.K144E	NM_006869	NP_006860	O75689	ADAP1_HUMAN	Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.	216	PH 1.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GCACCCACCTTCCCGTCCTCA	0.672												
ZMIZ2	83637	broad.mit.edu	37	7	44798997	44798997	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:44798997C>T	uc003tlr.3	+	6	1054	c.931C>T	c.(931-933)Ccc>Tcc	p.P311S	ZMIZ2_uc003tlq.3_Missense_Mutation_p.P279S|ZMIZ2_uc003tls.3_Missense_Mutation_p.P311S|ZMIZ2_uc003tlt.3_5'Flank|ZMIZ2_uc010kyj.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	311	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCACAGGCTGCCCCTGCAGCA	0.687												
CLIP2	7461	broad.mit.edu	37	7	73790959	73790959	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:73790959G>C	uc003uam.3	+	9	2555	c.2228G>C	c.(2227-2229)cGg>cCg	p.R743P	CLIP2_uc003uan.3_Missense_Mutation_p.R708P|CLIP2_uc003uao.3_Missense_Mutation_p.R137P	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	743						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GTGGAGTACCGGGGCCAGGCG	0.657												
DPY19L2P2	349152	broad.mit.edu	37	7	102825946	102825946	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:102825946C>T	uc003vbh.4	-	19	3240	c.1049G>A	c.(1048-1050)tGt>tAt	p.C350Y	DPY19L2P2_uc003vbg.4_Non-coding_Transcript|DPY19L2P2_uc010lit.3_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 2 (C. elegans) (DPY19L2P2), transcript variant 2, non-coding RNA.																		GACAGCTTGACACTTGCCATT	0.373												
OPN1SW	611	broad.mit.edu	37	7	128415066	128415066	+	Silent	SNP	G	G	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:128415066G>T	uc003vnt.4	-	1	495	c.495C>A	c.(493-495)tcC>tcA	p.S165S		NM_001708	NP_001699	P03999	OPSB_HUMAN	Homo sapiens opsin 1 (cone pigments), short-wave-sensitive (OPN1SW), mRNA.	165					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						AGGGTGGGATGGAGACGCCAA	0.552												
ABCF2	10061	broad.mit.edu	37	7	150915908	150915908	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:150915908G>A	uc003wjo.1	-	8	1180	c.1069C>T	c.(1069-1071)Cag>Tag	p.Q357*	ABCF2_uc003wjp.3_Nonsense_Mutation_p.Q357*	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	357						ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTTGCTCTGGGCCTGCCGG	0.527												
RAB11FIP1	80223	broad.mit.edu	37	8	37730590	37730590	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr8:37730590G>T	uc003xkm.2	-	3	1786	c.1730C>A	c.(1729-1731)cCc>cAc	p.P577H	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	577	Ser-rich.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CAATTCAGAGGGGACAGATGC	0.557												
RALYL	138046	broad.mit.edu	37	8	85774532	85774532	+	Silent	SNP	T	T	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr8:85774532T>C	uc003yct.4	+	6	587	c.453_splice	c.e6-1	p.R151_splice	RALYL_uc003ycq.4_Splice_Site_p.R138_splice|RALYL_uc003ycr.4_Splice_Site_p.R138_splice|RALYL_uc003ycs.4_Splice_Site_p.R138_splice|RALYL_uc010lzy.3_Splice_Site_p.R127_splice|RALYL_uc003ycu.4_Splice_Site_p.R65_splice	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	138							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TTTGTAAAGGTTATTTGATTA	0.473												
PLEC	5339	broad.mit.edu	37	8	144991998	144991998	+	Silent	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr8:144991998G>C	uc003zaf.1	-	31	12572	c.12402C>G	c.(12400-12402)ggC>ggG	p.G4134G	PLEC_uc003zab.1_Silent_p.G3997G|PLEC_uc003zac.1_Silent_p.G4001G|PLEC_uc003zad.2_Silent_p.G3997G|PLEC_uc003zae.1_Silent_p.G3965G|PLEC_uc003zag.1_Silent_p.G3975G|PLEC_uc003zah.2_Silent_p.G3983G|PLEC_uc003zaj.2_Silent_p.G4024G	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4134	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						TGAACTCGGGGCCCACAATGC	0.622												
UNC13B	10497	broad.mit.edu	37	9	35386179	35386179	+	Silent	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr9:35386179C>T	uc003zwr.3	+	22	3028	c.2736C>T	c.(2734-2736)agC>agT	p.S912S	UNC13B_uc003zwq.3_Silent_p.S912S	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	912					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AACTGCAAAGCCCTCCAAGAG	0.483												
ZNF658	26149	broad.mit.edu	37	9	40772547	40772547	+	Missense_Mutation	SNP	A	A	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr9:40772547A>C	uc004abs.2	-	4	2880	c.2728T>G	c.(2728-2730)Tat>Gat	p.Y910D	ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.Y910D	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	910					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTGCATTCATAGGGTTTCTCC	0.448												
PTPDC1	138639	broad.mit.edu	37	9	96859671	96859671	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr9:96859671C>T	uc010mrj.2	+	5	925	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	PTPDC1_uc004auf.2_Missense_Mutation_p.R221W|PTPDC1_uc004aug.2_Missense_Mutation_p.R221W|PTPDC1_uc004auh.2_Missense_Mutation_p.R273W|PTPDC1_uc010mri.2_Missense_Mutation_p.R273W	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	221							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R273W(1)|p.R221W(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TATATTTGTGCGGGCAAAGCG	0.418												
CLCN4	1183	broad.mit.edu	37	X	10181901	10181901	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:10181901T>C	uc004csy.4	+	10	2187	c.1757T>C	c.(1756-1758)gTg>gCg	p.V586A	CLCN4_uc011mid.2_Missense_Mutation_p.V492A	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	586						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	p.V586M(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTCCTTGACGTGAAGGACGAG	0.597												
NHS	4810	broad.mit.edu	37	X	17743937	17743937	+	Missense_Mutation	SNP	A	A	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:17743937A>T	uc011mix.2	+	6	2049	c.1711A>T	c.(1711-1713)Agc>Tgc	p.S571C	NHS_uc004cxx.3_Missense_Mutation_p.S550C|NHS_uc004cxy.3_Missense_Mutation_p.S394C|NHS_uc004cxz.3_Missense_Mutation_p.S373C|NHS_uc004cya.3_Missense_Mutation_p.S273C	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	550						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ACATCTTCACAGCCCCCAGCA	0.557												
SMC1A	8243	broad.mit.edu	37	X	53409449	53409449	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:53409449A>G	uc004dsg.3	-	20	3332	c.3263T>C	c.(3262-3264)cTg>cCg	p.L1088P	SMC1A_uc011moe.2_Missense_Mutation_p.L1066P	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	1088					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	p.L1088L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						ATTGCGGGACAGGGCCTTATA	0.527												
ATRX	546	broad.mit.edu	37	X	76938029	76938029	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:76938029G>A	uc004ecp.4	-	8	2951	c.2719C>T	c.(2719-2721)Cga>Tga	p.R907*	ATRX_uc004ecq.4_Nonsense_Mutation_p.R869*|ATRX_uc004eco.4_Nonsense_Mutation_p.R692*|ATRX_uc004ecr.2_Nonsense_Mutation_p.R839*|ATRX_uc010nlx.1_Nonsense_Mutation_p.R878*|ATRX_uc010nly.1_Nonsense_Mutation_p.R852*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	907					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.R907*(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTAGGAAGTCGATCTCTTAAT	0.418			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome					
PGK1	5230	broad.mit.edu	37	X	77372859	77372860	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:77372859_77372860GC>CT	uc004ecz.4	+	4	640_641	c.468_469GC>CT	c.(466-471)aagcta>aaCTta	p.K156N	PGK1_uc011mqq.2_Missense_Mutation_p.K128N	NM_000291	NP_000282	P00558	PGK1_HUMAN	Homo sapiens phosphoglycerate kinase 1 (PGK1), mRNA.	156					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						CACTTTCCAAGCTAGGGGATGT	0.426												
CXorf57	55086	broad.mit.edu	37	X	105882786	105882786	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:105882786G>C	uc004emi.4	+	8	1754	c.1603G>C	c.(1603-1605)Gtc>Ctc	p.V535L	CXorf57_uc004emj.4_Intron|Mir_548_uc022ccb.1_5'Flank	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	535										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TATAAGTGAAGTCAGGAAGGA	0.363												
CXorf57	55086	broad.mit.edu	37	X	105882797	105882797	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:105882797G>C	uc004emi.4	+	8	1765	c.1614G>C	c.(1612-1614)gaG>gaC	p.E538D	CXorf57_uc004emj.4_Intron|Mir_548_uc022ccb.1_5'Flank	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	538										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TCAGGAAGGAGATTGAAGACT	0.373												
SLITRK2	84631	broad.mit.edu	37	X	144906297	144906297	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:144906297C>T	uc022cfn.1	+	0	2354	c.2354C>T	c.(2353-2355)gCc>gTc	p.A785V	SLITRK2_uc004fcd.3_Missense_Mutation_p.A785V|SLITRK2_uc010nsp.3_Missense_Mutation_p.A785V|SLITRK2_uc010nso.3_Missense_Mutation_p.A785V|SLITRK2_uc011mwq.2_Missense_Mutation_p.A785V|SLITRK2_uc011mwr.2_Missense_Mutation_p.A785V|SLITRK2_uc011mws.2_Missense_Mutation_p.A785V|SLITRK2_uc004fcg.3_Missense_Mutation_p.A785V|SLITRK2_uc011mwt.2_Missense_Mutation_p.A785V|CXorf1_uc004fch.3_5'Flank	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	785						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AGGCAGTTTGCCCCTTCCTAT	0.453												
