Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MGAT5	4249	broad.mit.edu	37	2	135206357	135206357	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr2:135206357G>A	uc002ttw.4	+	15	2310	c.2165G>A	c.(2164-2166)aGg>aAg	p.R722K		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.	722					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		AGGCACCAGAGGGTCTGCCCC	0.597000														66			33		0	0	0.012213	0	0
SATB1	6304	broad.mit.edu	37	3	18391172	18391172	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr3:18391172T>A	uc003cbh.3	-	10	3517	c.1782A>T	c.(1780-1782)caA>caT	p.Q594H	SATB1_uc003cbi.3_Missense_Mutation_p.Q626H|SATB1_uc003cbj.3_Missense_Mutation_p.Q594H	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	594	Poly-Gln.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						gctgctgctgttgctgcAAAG	0.582000														8			5		0	0	0.000602	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683316	140683316	+	Silent	SNP	C	T	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr5:140683316C>T	uc003ljf.3	-	0	297	c.117G>A	c.(115-117)acG>acA	p.T39T		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	39					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	p.T39M(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GGTCAGGGAACGTCTGCATCT	0.612000														60			29		0	0	0.008361	0	0
PROSER1	80209	broad.mit.edu	37	13	39596542	39596542	+	Nonsense_Mutation	SNP	A	T	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr13:39596542A>T	uc001uwy.3	-	8	1524	c.651T>A	c.(649-651)taT>taA	p.Y217*	PROSER1_uc001uwz.3_Nonsense_Mutation_p.Y195*	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	217	Pro-rich.																CTGCATTGTTATAAGCACCTA	0.378000														60			59		0	0	0.014410	0	0
RPL3	6122	broad.mit.edu	37	22	39714484	39714484	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr22:39714484C>A	uc003axi.3	-	1	185	c.117G>T	c.(115-117)aaG>aaT	p.K39N	RPL3_uc003axh.3_Missense_Mutation_p.K39N|RPL3_uc003axj.3_5'UTR|RPL3_uc011aoj.1_Missense_Mutation_p.K39N	NM_000967	NP_000958	P39023	RL3_HUMAN	Homo sapiens ribosomal protein L3 (RPL3), transcript variant 1, mRNA.	39					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					GGTGGACCGGCTTGGACGGGT	0.592000														35			12		0.00010058	0.000111633	0.013537	1	0
LPPR3	79948	broad.mit.edu	37	19	814747	814747	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr19:814747T>C	uc002lpw.1	-	5	666	c.602A>G	c.(601-603)aAg>aGg	p.K201R	LPPR3_uc021ulz.1_5'Flank|LPPR3_uc002lpx.1_Missense_Mutation_p.K201R|LPPR3_uc002lpy.1_5'UTR	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 3 (LPPR3), mRNA.	201						integral to membrane	phosphatidate phosphatase activity										CGGGAAGGTCTTCCTGTAAGA	0.667000														19			11		0	0	0.008291	0	0
ACADL	33	broad.mit.edu	37	2	211081192	211081192	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr2:211081192C>T	uc002vdz.4	-	3	643	c.415G>A	c.(415-417)Ggt>Agt	p.G139S		NM_001608	NP_001599	P28330	ACADL_HUMAN	Homo sapiens acyl-CoA dehydrogenase, long chain (ACADL), nuclear gene encoding mitochondrial protein, mRNA.	139					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		ATGACAATACCTGAATGAATA	0.338000														60			41		0	0	0.007835	0	0
IL16	3603	broad.mit.edu	37	15	81598328	81598328	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr15:81598328G>A	uc021ssh.1	+	15	3601	c.3500G>A	c.(3499-3501)gGc>gAc	p.G1167D	IL16_uc010blq.1_Missense_Mutation_p.G1121D|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.G1209D|IL16_uc002bgg.3_Missense_Mutation_p.G1167D|IL16_uc002bgi.1_Missense_Mutation_p.G557D|IL16_uc002bgj.3_Missense_Mutation_p.G661D|IL16_uc021ssi.1_Missense_Mutation_p.G466D|IL16_uc002bgl.1_Missense_Mutation_p.G466D|IL16_uc010unq.1_Missense_Mutation_p.G466D	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	1167	Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCCATCAACGGCAAGTCTCTC	0.542000														178			5		0	0	0.001168	0	0
PHF20L1	51105	broad.mit.edu	37	8	133816926	133816926	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr8:133816926G>C	uc003ytt.3	+	7	1113	c.788G>C	c.(787-789)aGg>aCg	p.R263T	PHF20L1_uc003ytr.3_Missense_Mutation_p.R237T|PHF20L1_uc010mdv.3_Missense_Mutation_p.R237T|PHF20L1_uc003yts.3_Missense_Mutation_p.R263T|PHF20L1_uc011lja.2_Missense_Mutation_p.R237T|PHF20L1_uc003ytu.1_Non-coding_Transcript|PHF20L1_uc003ytv.3_Missense_Mutation_p.R102T	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	263							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCAAACAAGAGGAAAAATAAT	0.378000														98			41		0	0	0.007835	0	0
TRIM9	114088	broad.mit.edu	37	14	51475908	51475908	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr14:51475908T>C	uc001wyx.4	-	4	1961	c.1196A>G	c.(1195-1197)cAg>cGg	p.Q399R	TRIM9_uc001wyy.2_Missense_Mutation_p.Q399R|TRIM9_uc001wyz.4_Missense_Mutation_p.Q399R	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	399	COS.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TTTACCCCACTGATCCTCAGT	0.488000														81			42		0	0	0.008740	0	0
CLN6	54982	broad.mit.edu	37	15	68510982	68510982	+	Silent	SNP	G	T	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr15:68510982G>T	uc010ujz.2	-	1	424	c.186C>A	c.(184-186)ggC>ggA	p.G62G	CLN6_uc002arf.3_Silent_p.G30G|CLN6_uc010ujy.2_5'UTR	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6), mRNA.	30			R -> H (in CLN6).		cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CGCTCACAGAGCCATGCCTGG	0.567000														62			6		8.12818e-05	9.12163e-05	0.001984	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79064138	79064138	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr15:79064138G>A	uc002bej.4	-	14	2376	c.2165C>T	c.(2164-2166)gCa>gTa	p.A722V	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.A722V	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	722	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GATCTCGCGTGCGCCCGCTGG	0.622000														17			15		0	0	0.007413	0	0
MED12L	116931	broad.mit.edu	37	3	151078359	151078359	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr3:151078359A>G	uc003eyp.3	+	18	2947	c.2818A>G	c.(2818-2820)Agc>Ggc	p.S940G	MED12L_uc011bnz.2_Missense_Mutation_p.S800G|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.S104G	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	940					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTGTCATGTAGCCACCTCAG	0.438000														94			101		0	0	0.014410	0	0
TAF4B	6875	broad.mit.edu	37	18	23865865	23865865	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr18:23865865G>A	uc002kvt.4	+	6	1481	c.992G>A	c.(991-993)cGa>cAa	p.R331Q	TAF4B_uc002kvu.4_Missense_Mutation_p.R331Q|TAF4B_uc002kvs.4_Non-coding_Transcript	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Homo sapiens TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa (TAF4B), mRNA.	331	TAFH.				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			GTTGCCTTACGACAACTTCTG	0.408000														77			86		0	0	0.014410	0	0
EPC1	80314	broad.mit.edu	37	10	32580239	32580239	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr10:32580239C>G	uc001iwg.1	-	5	1097	c.827G>C	c.(826-828)gGc>gCc	p.G276A	EPC1_uc001iwi.3_Missense_Mutation_p.G226A|EPC1_uc009xlt.2_Missense_Mutation_p.G226A|EPC1_uc001iwh.1_Missense_Mutation_p.G276A	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	Homo sapiens enhancer of polycomb homolog 1 (Drosophila) (EPC1), mRNA.	276					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nuclear membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				ATTGTAGTCGCCCAAATTATA	0.313000														125			23		0	0	0.003330	0	0
TERT	7015	broad.mit.edu	37	5	1255515	1255515	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr5:1255515C>A	uc003jcb.1	-	13	3102	c.3044G>T	c.(3043-3045)tGt>tTt	p.C1015F	TERT_uc003jbz.1_Missense_Mutation_p.C211F|TERT_uc003jcc.1_Missense_Mutation_p.C952F|TERT_uc003jca.1_Missense_Mutation_p.C1003F|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Non-coding_Transcript|TERT_uc021xwa.1_Missense_Mutation_p.M77I|TERT_uc021xwb.1_Missense_Mutation_p.C167F	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	1015	CTE.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGCAGCACACATGCGTGAAA	0.572000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					29			11		5.50884e-06	6.32264e-06	0.013537	1	0
RLF	6018	broad.mit.edu	37	1	40701983	40701983	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr1:40701983G>A	uc001cfc.4	+	7	1640	c.1609G>A	c.(1609-1611)Gac>Aac	p.D537N	RLF_uc001cfd.4_Missense_Mutation_p.D228N	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	537					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.R536G(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGAGAAAAGAGACAAAAAACC	0.358000														55			25		0	0	0.006320	0	0
TTN	7273	broad.mit.edu	37	2	179575504	179575504	+	Silent	SNP	G	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr2:179575504G>A	uc021vsy.1	-	94	24813	c.24588C>T	c.(24586-24588)ggC>ggT	p.G8196G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.G4857G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9123	Ig-like 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G8196G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTACTTTCCGCCACTTCGTA	0.488000														109			50		0	0	0.014410	0	0
OR5V1	81696	broad.mit.edu	37	6	29323498	29323498	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr6:29323498G>C	uc011dlo.2	-	0	557	c.475C>G	c.(475-477)Cat>Gat	p.H159D		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AACACTGTATGCACCACTGAG	0.438000														25			32		0	0	0.010818	0	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	C	C	rs145412486	by1000genomes	TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr20:29628236G>C	uc010ztl.1	+	2	180	c.148G>C	c.(148-150)Gct>Cct	p.A50P	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A2P					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A80P(8)|p.L50P(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000														143			4		0	0	0.000602	0	0
HPD	3242	broad.mit.edu	37	12	122292680	122292680	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr12:122292680C>T	uc001ubj.3	-	6	383	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	HPD_uc001ubk.3_Missense_Mutation_p.A76T	NM_002150	NP_001165464	P32754	HPPD_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	115					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	ATGATTTTGGCGCCCCGTTCC	0.602000														98			4		0	0	0.009096	0	0
NAF1	92345	broad.mit.edu	37	4	164050121	164050121	+	Silent	SNP	G	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr4:164050121G>A	uc003iqj.3	-	7	1607	c.1413C>T	c.(1411-1413)ccC>ccT	p.P471P	NAF1_uc010iqw.1_Intron	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	Homo sapiens nuclear assembly factor 1 homolog (S. cerevisiae) (NAF1), transcript variant 1, mRNA.	471	Pro-rich.				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				gagggggagggggtgggggta	0.517000														5			13		0	0	0.002450	0	0
CCNI2	645121	broad.mit.edu	37	5	132084160	132084160	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr5:132084160C>A	uc011cxg.1	+	1	602	c.551C>A	c.(550-552)tCa>tAa	p.S184*	CCNI2_uc011cxh.1_Nonsense_Mutation_p.S185*|CCNI2_uc003kxq.1_Nonsense_Mutation_p.S184*	NM_001039780	NP_001034869	Q6ZMN8	CCNI2_HUMAN	Homo sapiens cyclin I family, member 2 (CCNI2), mRNA.	184					regulation of cyclin-dependent protein kinase activity		protein kinase binding			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCCTGATTTCAGTGAAGGTA	0.542000														96			35		2.52637e-11	3.11175e-11	0.005524	1	0
CLPTM1	1209	broad.mit.edu	37	19	45495628	45495628	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr19:45495628G>A	uc002pai.3	+	12	1747	c.1693G>A	c.(1693-1695)Gtt>Att	p.V565I	CLPTM1_uc010xxf.2_Missense_Mutation_p.V463I|CLPTM1_uc010xxg.2_Missense_Mutation_p.V551I|CLPTM1_uc021uvo.1_Missense_Mutation_p.V43I	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	565					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		p.P564P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CAAGATGCCCGTTATGTACCG	0.627000														117			77		0	0	0.014410	0	0
ZNF607	84775	broad.mit.edu	37	19	38190209	38190209	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr19:38190209G>T	uc002ohc.2	-	4	1419	c.823C>A	c.(823-825)Cat>Aat	p.H275N	ZNF607_uc002ohb.2_Missense_Mutation_p.H274N	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA.	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TCTCCAGTATGAATACTCTGA	0.423000														63			43		2.24893e-16	2.83928e-16	0.009718	1	0
SPTLC2	9517	broad.mit.edu	37	14	77984506	77984506	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr14:77984506A>T	uc001xub.3	-	10	1632	c.1444T>A	c.(1444-1446)Ttt>Att	p.F482I		NM_004863	NP_004854	O15270	SPTC2_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 2 (SPTLC2), mRNA.	482						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCCCGTCCAAAGGCGCTGCAA	0.498000														60			3		0	0	0.004672	0	0
MED1	5469	broad.mit.edu	37	17	37579984	37579984	+	Silent	SNP	A	T	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr17:37579984A>T	uc002hrv.4	-	11	1154	c.942T>A	c.(940-942)tcT>tcA	p.S314S	MED1_uc010wee.2_Silent_p.S142S|MED1_uc002hru.2_Silent_p.S314S	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	314	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CAAATGCTCTAGATACTGGGA	0.413000										HNSCC(31;0.082)				54			34		0	0	0.013114	0	0
MLL5	55904	broad.mit.edu	37	7	104753240	104753240	+	Silent	SNP	A	C	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr7:104753240A>C	uc003vcm.3	+	26	5571	c.5037A>C	c.(5035-5037)ccA>ccC	p.P1679P	MLL5_uc010ljc.3_Silent_p.P1679P|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.3_Silent_p.P413P	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	1679	Pro-rich.				DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding	p.P1679P(2)		NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						ACTTACCCCCACCCCCACCCC	0.552000														15			4		0	0	0.003080	0	0
ZNF780B	163131	broad.mit.edu	37	19	40540344	40540344	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr19:40540344G>A	uc002omu.3	-	4	2487	c.2422C>T	c.(2422-2424)Cct>Tct	p.P808S	ZNF780B_uc002omv.3_Missense_Mutation_p.P660S	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	808					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACATTCAAAGGGTTTCTCACC	0.393000														52			31		0	0	0.003271	0	0
FMNL2	114793	broad.mit.edu	37	2	153471511	153471511	+	Silent	SNP	T	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr2:153471511T>A	uc002tye.3	+	11	1576	c.1209T>A	c.(1207-1209)tcT>tcA	p.S403S		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	403	GBD/FH3.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AAAACATTTCTCATGTAACTA	0.378000														56			28		0	0	0.009535	0	0
TTC35	9694	broad.mit.edu	37	8	109489022	109489022	+	Silent	SNP	C	T	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr8:109489022C>T	uc003ymw.1	+	8	638	c.603C>T	c.(601-603)acC>acT	p.T201T		NM_014673	NP_055488	Q15006	TTC35_HUMAN	Homo sapiens tetratricopeptide repeat domain 35 (TTC35), mRNA.	201						endoplasmic reticulum|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)			TTAAGTATACCCAAGGTGGAC	0.338000														54			26		0	0	0.003954	0	0
EPHB1	2047	broad.mit.edu	37	3	134670526	134670526	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr3:134670526T>A	uc003eqt.3	+	2	812	c.437T>A	c.(436-438)tTc>tAc	p.F146Y	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Missense_Mutation_p.F146Y	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	146						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GATGAGAGCTTCTCCCAGGTG	0.493000														96			99		0	0	0.014410	0	0
RNF166	115992	broad.mit.edu	37	16	88765421	88765421	+	Silent	SNP	C	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr16:88765421C>A	uc002flk.3	-	3	594	c.498G>T	c.(496-498)gtG>gtT	p.V166V	RNF166_uc021tmn.1_Silent_p.V57V|RNF166_uc021tmo.1_Silent_p.V85V	NM_178841	NP_001165287	Q96A37	RN166_HUMAN	Homo sapiens ring finger protein 166 (RNF166), transcript variant 1, mRNA.	166						intracellular	zinc ion binding			endometrium(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CACAGTGCTTCACCAGCTCCT	0.677000														4			6		2.0095e-06	2.35999e-06	0.001984	1	0
QRICH2	84074	broad.mit.edu	37	17	74288035	74288035	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr17:74288035G>A	uc002jrd.1	-	3	2455	c.2275C>T	c.(2275-2277)Cag>Tag	p.Q759*	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	759	Gln-rich.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GGATCTGCCTGAGGTTGCACC	0.522000														116			62		0	0	0.014410	0	0
TIPRL	261726	broad.mit.edu	37	1	168168189	168168189	+	Silent	SNP	G	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr1:168168189G>A	uc001gfg.3	+	5	790	c.645G>A	c.(643-645)acG>acA	p.T215T		NM_152902	NP_690866	O75663	TIPRL_HUMAN	Homo sapiens TIP41, TOR signaling pathway regulator-like (S. cerevisiae) (TIPRL), transcript variant 1, mRNA.	215	Interaction with PPP2CA.				DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					GAGAATATACGTCACGAGAAA	0.259000														30			8		0	0	0.008291	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714243	138714243	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr9:138714243T>C	uc004cgr.4	-	10	2264	c.2264A>G	c.(2263-2265)gAg>gGg	p.E755G	CAMSAP1_uc004cgq.4_Missense_Mutation_p.E645G|CAMSAP1_uc010nbg.3_Missense_Mutation_p.E477G	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	755						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AGGATGGGCCTCACCCATGAA	0.542000														89			3		0	0	0.004672	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118335	118335	+	RNA	SNP	G	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chrGL000205.1:118335G>A	uc002kgk.4	+	0		c.1713G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTGGCTCCAGGAGGACTTCTG	0.542000														47			6		0	0	0.001984	0	0
HEATR5B	54497	broad.mit.edu	37	2	37267620	37267620	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr2:37267620A>T	uc002rpp.1	-	19	2994	c.2898T>A	c.(2896-2898)agT>agA	p.S966R		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	966							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACATCGGACCACTAGAATCCA	0.373000														72			33		0	0	0.013726	0	0
ZBTB8OS	339487	broad.mit.edu	37	1	33099257	33099257	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr1:33099257A>C	uc001bvp.3	-	3	371	c.352T>G	c.(352-354)Ttc>Gtc	p.F118V	ZBTB8OS_uc001bvo.1_Intron|ZBTB8OS_uc001bvq.3_Missense_Mutation_p.F106V	NM_178547	NP_848642	Q8IWT0	ARCH_HUMAN	Homo sapiens zinc finger and BTB domain containing 8 opposite strand (ZBTB8OS), mRNA.	106										endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CGGGGTATGAAGAATTCATCA	0.313000														21			31		0	0	0.003271	0	0
YY2	404281	broad.mit.edu	37	X	21875588	21875588	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chrX:21875588G>A	uc011mjp.2	+	0	1484	c.986G>A	c.(985-987)cGc>cAc	p.R329H	MBTPS2_uc004dae.3_Intron|MBTPS2_uc010nfr.3_Intron|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	Homo sapiens YY2 transcription factor (YY2), mRNA.	329	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						TTCAATTTGCGCACACACTTG	0.532000														72			168		0	0	0.014410	0	0
STX4	6810	broad.mit.edu	37	16	31050905	31050905	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr16:31050905C>T	uc002eal.3	+	8	970	c.746C>T	c.(745-747)gCg>gTg	p.A249V	STX4_uc002eak.3_Missense_Mutation_p.A247V|STX4_uc002eam.3_Missense_Mutation_p.A171V|BC039500_uc002ean.1_5'Flank	NM_004604	NP_004595	Q12846	STX4_HUMAN	Homo sapiens syntaxin 4 (STX4), mRNA.	249	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology.				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CTGAGCTCAGCGGACTACGTG	0.622000														130			4		0	0	0.000602	0	0
BC107568	0	broad.mit.edu	37	GL000195.1	138103	138103	+	RNA	SNP	T	C	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chrGL000195.1:138103T>C	uc003won.1	+	0		c.137T>C								Homo sapiens cDNA clone IMAGE:3683736.																		TGGGGACGCATAGTTAAGGTG	0.597000														10			7		0	0	0.006214	0	0
LOC729513	729513	broad.mit.edu	37	16	70253871	70253871	+	RNA	SNP	A	G	G			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr16:70253871A>G	uc002eyl.1	-	4		c.1620T>C								Homo sapiens SMG1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) pseudogene (LOC729513), non-coding RNA.																		GTAAAGCTTCACCGAAGAGTG	0.388000														12			2		0	0	0.004672	0	0
FBXO10	26267	broad.mit.edu	37	9	37537307	37537307	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr9:37537307G>T	uc004aac.3	-	2	1347	c.1267C>A	c.(1267-1269)Ctg>Atg	p.L423M	FBXO10_uc004aab.3_Missense_Mutation_p.L407M|FBXO10_uc004aad.3_Intron	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	407						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		AGTGAGTTCAGCACTAGGCAG	0.612000														17			10		0.000442599	0.000485897	0.006214	1	0
CCDC13	152206	broad.mit.edu	37	3	42793447	42793447	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr3:42793447T>G	uc003cly.4	-	4	668	c.584A>C	c.(583-585)cAg>cCg	p.Q195P	CCDC13_uc003clz.2_Missense_Mutation_p.Q195P|CCDC13_uc011azq.1_Missense_Mutation_p.Q195P	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	195										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GTCTCCCATCTGGGCCCTCGG	0.592000														47			26		0	0	0.007291	0	0
ALG10B	144245	broad.mit.edu	37	12	38714192	38714192	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr12:38714192T>C	uc001rln.4	+	2	738	c.599T>C	c.(598-600)gTc>gCc	p.V200A		NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA.	200					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCAGGGAATGTCATTGCACAA	0.388000														265			129		0	0	0.014410	0	0
ZNF646	9726	broad.mit.edu	37	16	31089679	31089679	+	Silent	SNP	T	C	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr16:31089679T>C	uc002eap.3	+	1	2323	c.2034T>C	c.(2032-2034)gcT>gcC	p.A678A	ZNF646_uc021tgu.1_Silent_p.A678A	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	678					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GGAAGCGGGCTGGCGGTGCCA	0.647000														48			27		0	0	0.007291	0	0
CTLA4	1493	broad.mit.edu	37	2	204735458	204735458	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr2:204735458G>A	uc002vak.2	+	1	414	c.259G>A	c.(259-261)Gca>Aca	p.A87T	CTLA4_uc002val.2_Missense_Mutation_p.A87T|CTLA4_uc010fty.2_Intron|CTLA4_uc010ftz.2_Intron	NM_005214	NP_005205	P16410	CTLA4_HUMAN	Homo sapiens cytotoxic T-lymphocyte-associated protein 4 (CTLA4), transcript variant 1, mRNA.	87	Ig-like V-type.				B cell receptor signaling pathway|T cell costimulation|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus	Golgi apparatus|clathrin-coated endocytic vesicle|external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm		p.A86A(1)		large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	AGTCTGTGCGGCAACCTACAT	0.542000														107			4		0	0	0.009096	0	0
UNC13D	201294	broad.mit.edu	37	17	73837041	73837041	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr17:73837041A>T	uc002jpp.3	-	6	991	c.611T>A	c.(610-612)aTg>aAg	p.M204K	UNC13D_uc010wsk.1_Missense_Mutation_p.M204K|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_Missense_Mutation_p.M1K	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	204	C2 1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACTCACCACATGTCCAGATG	0.592000									Familial Hemophagocytic Lymphohistiocytosis					258			114		0	0	0.014410	0	0
ANLN	54443	broad.mit.edu	37	7	36445953	36445953	+	Silent	SNP	T	C	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr7:36445953T>C	uc003tff.3	+	3	855	c.651T>C	c.(649-651)aaT>aaC	p.N217N	ANLN_uc011kaz.2_Silent_p.N129N|ANLN_uc003tfg.3_Silent_p.N217N|ANLN_uc010kxe.3_Silent_p.N217N	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	217	Nuclear localization.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						ATGATGTAAATCACTCATTTG	0.468000														87			41		0	0	0.009718	0	0
GCN1L1	10985	broad.mit.edu	37	12	120582190	120582190	+	Silent	SNP	G	T	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr12:120582190G>T	uc001txo.3	-	41	5428	c.5415C>A	c.(5413-5415)atC>atA	p.I1805I		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1805					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGTACATGGAGATAACCCGCT	0.597000														57			21		1.96292e-10	2.38862e-10	0.010504	1	0
KIAA1217	56243	broad.mit.edu	37	10	24508666	24508666	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr10:24508666G>T	uc001iru.4	+	1	585	c.182G>T	c.(181-183)cGc>cTc	p.R61L	KIAA1217_uc001irs.3_5'UTR|KIAA1217_uc001irt.4_Missense_Mutation_p.R61L|KIAA1217_uc010qcy.2_Missense_Mutation_p.R61L|KIAA1217_uc010qcz.2_Missense_Mutation_p.R61L	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	61					embryonic skeletal system development	cytoplasm		p.R61C(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAGTCTTCCCGCAATATCCCA	0.498000														69			21		1.40151e-16	1.81478e-16	0.010504	1	0
GPR113	165082	broad.mit.edu	37	2	26534291	26534291	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr2:26534291C>A	uc002rhe.4	-	10	2305	c.2305G>T	c.(2305-2307)Gct>Tct	p.A769S	GPR113_uc010yky.1_Missense_Mutation_p.A700S|GPR113_uc002rhb.1_Missense_Mutation_p.A372S|GPR113_uc010eyk.1_Missense_Mutation_p.A570S|GPR113_uc002rhc.1_Missense_Mutation_p.A372S|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	769					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCGCCAGAGCGGGTTCTTCC	0.627000														93			6		0.00307968	0.00330902	0.003080	1	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86215	86215	+	RNA	SNP	C	T	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chrGL000211.1:86215C>T	uc003bnz.1	+	5		c.963C>T			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GTAGTTGACCCGCTGTTTGTT	0.423000														12			3		0	0	0.004672	0	0
DGKD	8527	broad.mit.edu	37	2	234363455	234363455	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr2:234363455G>T	uc002vui.1	+	18	2323	c.2311G>T	c.(2311-2313)Ggc>Tgc	p.G771C	DGKD_uc002vuj.1_Missense_Mutation_p.G727C|DGKD_uc010fyh.1_Missense_Mutation_p.G638C|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	771					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TTTTGGCATTGGCCTGGATGC	0.453000														82			29		1.61788e-16	2.06843e-16	0.012213	1	0
abParts	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	G	G			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr22:22664606A>G	uc021wml.1	+	32		c.2706A>G			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GTCTTCATGCAAACTTGGTAT	0.398000														25			3		0	0	0.004672	0	0
WRN	7486	broad.mit.edu	37	8	30938567	30938567	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr8:30938567G>A	uc003xio.4	+	8	1812	c.1024G>A	c.(1024-1026)Gtt>Att	p.V342I	WRN_uc011lbd.1_Missense_Mutation_p.V45I|WRN_uc011lbe.1_5'Flank	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	342					DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTTAATTCACGTTGAAGATGA	0.353000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					88			24		0	0	0.007291	0	0
USP50	373509	broad.mit.edu	37	15	50835960	50835960	+	Silent	SNP	G	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr15:50835960G>A	uc021sky.1	-	2	459	c.279C>T	c.(277-279)gcC>gcT	p.A93A	USP50_uc021skx.1_5'UTR	NM_203494	NP_987090	E9PP86	E9PP86_HUMAN	Homo sapiens ubiquitin specific peptidase 50 (USP50), mRNA.	93					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		TCATCAGATAGGCAAAAGCAG	0.453000														7			2		0	0	0.004672	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439185	14439185	+	RNA	SNP	C	A	A	rs112098339		TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr21:14439185C>A	uc002yja.4	+	9		c.2703C>A								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		TGACTTTAAACCAAGAAGAAG	0.269000														36			12		6.40141e-05	7.26452e-05	0.010729	1	0
OSBPL5	114879	broad.mit.edu	37	11	3141834	3141834	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr11:3141834G>C	uc001lxk.2	-	5	581	c.423C>G	c.(421-423)agC>agG	p.S141R	OSBPL5_uc010qxq.1_Missense_Mutation_p.S93R|OSBPL5_uc009ydw.2_Intron|OSBPL5_uc001lxl.2_Intron|OSBPL5_uc009ydx.3_Missense_Mutation_p.S165R	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA.	141	PH.				Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GCTTGGTCCAGCTCTTCAGGG	0.677000														23			31		0	0	0.010818	0	0
MET	4233	broad.mit.edu	37	7	116340025	116340025	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr7:116340025T>C	uc003vij.3	+	1	1074	c.887T>C	c.(886-888)cTg>cCg	p.L296P	MET_uc022akk.1_Missense_Mutation_p.L296P|MET_uc010lkh.3_Missense_Mutation_p.L296P|MET_uc011knc.1_Missense_Mutation_p.L296P|MET_uc011knd.2_Missense_Mutation_p.L296P|MET_uc011knf.2_Missense_Mutation_p.L296P|MET_uc011kne.2_Missense_Mutation_p.L296P|MET_uc011kng.1_Missense_Mutation_p.L296P|MET_uc011knh.1_Missense_Mutation_p.L296P|MET_uc011kni.2_Missense_Mutation_p.L296P|MET_uc003vii.1_Missense_Mutation_p.L315P|MET_uc010lkg.3_Missense_Mutation_p.L296P|MET_uc011kmz.1_Missense_Mutation_p.L296P|MET_uc011kna.1_Missense_Mutation_p.L296P|MET_uc011knb.1_Missense_Mutation_p.L296P	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	296	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GAAATGCCTCTGGAGTGTATT	0.428000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					127			52		0	0	0.014410	0	0
GATA4	2626	broad.mit.edu	37	8	11615887	11615887	+	Missense_Mutation	SNP	C	T	T	rs55633527	byFrequency	TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr8:11615887C>T	uc011kxc.1	+	5	1692	c.1235C>T	c.(1234-1236)gCg>gTg	p.A412V	GATA4_uc003wub.1_Missense_Mutation_p.A205V|GATA4_uc003wuc.2_Missense_Mutation_p.A411V|C8orf49_uc003wud.1_5'Flank	NM_002052	NP_002043	P43694	GATA4_HUMAN	Homo sapiens GATA binding protein 4 (GATA4), mRNA.	411					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CAAGGCTATGCGTCTCCCGTC	0.577000														143			4		0	0	0.009096	0	0
EARS2	124454	broad.mit.edu	37	16	23540828	23540828	+	Silent	SNP	C	T	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr16:23540828C>T	uc002dlu.3	-	6	1379	c.1347G>A	c.(1345-1347)gtG>gtA	p.V449V	EARS2_uc002dlr.4_Non-coding_Transcript|EARS2_uc002dls.4_Non-coding_Transcript|EARS2_uc002dlt.4_Silent_p.V449V	NM_001083614	NP_001077083	Q5JPH6	SYEM_HUMAN	Homo sapiens glutamyl-tRNA synthetase 2, mitochondrial (putative) (EARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	449					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|RNA binding|glutamate-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	CTCACCCCAGCACACGCTTGG	0.607000														30			12		0	0	0.013537	0	0
FAM49B	51571	broad.mit.edu	37	8	130883632	130883632	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr8:130883632C>A	uc003yss.3	-	6	733	c.184G>T	c.(184-186)Gaa>Taa	p.E62*	FAM49B_uc003yst.3_Nonsense_Mutation_p.E62*|FAM49B_uc003ysu.3_Nonsense_Mutation_p.E62*|FAM49B_uc003ysw.3_Nonsense_Mutation_p.E62*|FAM49B_uc003ysx.3_Nonsense_Mutation_p.E62*|FAM49B_uc003ysy.1_Nonsense_Mutation_p.E62*|SNORA25_uc022bbm.1_5'Flank	NM_016623	NP_057707	Q9NUQ9	FA49B_HUMAN	Homo sapiens family with sequence similarity 49, member B (FAM49B), mRNA.	62								p.E62K(2)		kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			TCTCGTATTTCGTGGCCAGCT	0.378000														79			46		4.10826e-27	5.45966e-27	0.014410	1	0
UGGT1	56886	broad.mit.edu	37	2	128918714	128918714	+	Silent	SNP	C	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr2:128918714C>A	uc002tps.3	+	24	2875	c.2697C>A	c.(2695-2697)atC>atA	p.I899I	UGGT1_uc010fme.1_Silent_p.I774I|UGGT1_uc002tpr.3_Silent_p.I875I	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	899					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTTCACAGATCATTGGGCCAC	0.478000														81			37		2.51541e-25	3.29943e-25	0.004878	1	0
PCDHB16	57717	broad.mit.edu	37	5	140563807	140563807	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr5:140563807C>A	uc003liv.3	+	0	2828	c.1673C>A	c.(1672-1674)tCg>tAg	p.S558*		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	558	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACGACAACTCGCCCTTCGTG	0.711000														20			28		2.36697e-06	2.74787e-06	0.007291	1	0
OR8H3	390152	broad.mit.edu	37	11	55890629	55890629	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr11:55890629A>G	uc001nii.1	+	0	781	c.781A>G	c.(781-783)Aag>Gag	p.K261E		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TACTTACTTAAAGCCAAGAAA	0.373000														53			51		0	0	0.014410	0	0
RIMS1	22999	broad.mit.edu	37	6	73108662	73108662	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr6:73108662T>G	uc003pga.3	+	32	4803	c.4726T>G	c.(4726-4728)Tat>Gat	p.Y1576D	RIMS1_uc011dyb.2_Missense_Mutation_p.Y973D|RIMS1_uc003pgc.3_Missense_Mutation_p.Y991D|RIMS1_uc010kaq.3_Missense_Mutation_p.Y896D|RIMS1_uc011dyc.2_Missense_Mutation_p.Y701D|RIMS1_uc010kar.3_Missense_Mutation_p.Y644D|RIMS1_uc011dyd.2_Missense_Mutation_p.Y710D|RIMS1_uc003pge.3_Missense_Mutation_p.Y616D|RIMS1_uc003pgf.3_Missense_Mutation_p.Y576D|RIMS1_uc003pgi.3_Missense_Mutation_p.Y392D|RIMS1_uc003pgg.3_Missense_Mutation_p.Y472D|RIMS1_uc003pgh.3_Missense_Mutation_p.Y443D|RIMS1_uc003pgd.3_Missense_Mutation_p.Y642D|RIMS1_uc011dye.2_Missense_Mutation_p.Y382D|RIMS1_uc011dyf.2_Missense_Mutation_p.Y200D|RIMS1_uc011dyg.2_Missense_Mutation_p.Y103D	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1576	C2 2.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TTTAGCTCCATATGTCAAAGT	0.318000														21			14		0	0	0.002450	0	0
GPD2	2820	broad.mit.edu	37	2	157367411	157367411	+	Silent	SNP	C	T	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr2:157367411C>T	uc002tzf.4	+	3	738	c.378C>T	c.(376-378)atC>atT	p.I126I	GPD2_uc010zch.2_Intron|GPD2_uc002tzd.4_Silent_p.I126I|GPD2_uc002tze.1_Non-coding_Transcript	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 2 (mitochondrial) (GPD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	126					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						AGAAGGCCATCATGAAGTTGG	0.378000														159			62		0	0	0.014410	0	0
IFLTD1	160492	broad.mit.edu	37	12	25702289	25702289	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr12:25702289C>A	uc010sji.1	-	2	526	c.281G>T	c.(280-282)gGt>gTt	p.G94V	IFLTD1_uc001rgt.1_5'UTR|IFLTD1_uc001rgs.2_Missense_Mutation_p.G73V|IFLTD1_uc010sjj.2_Intron|IFLTD1_uc009zjc.2_Missense_Mutation_p.G94V	NM_001145728	NP_001139200	Q8N9Z9	ILFT1_HUMAN	Homo sapiens intermediate filament tail domain containing 1 (IFLTD1), transcript variant 1, mRNA.	73						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GGAACAGCTACCTACAGTAGC	0.353000														42			17		1.99824e-07	2.40264e-07	0.004990	1	0
MUC17	140453	broad.mit.edu	37	7	100681165	100681165	+	Silent	SNP	T	C	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr7:100681165T>C	uc003uxp.1	+	2	6521	c.6468T>C	c.(6466-6468)taT>taC	p.Y2156Y	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2156	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTCAACTTATAGTGACAGAA	0.463000														224			86		0	0	0.014410	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205312513	205312513	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr1:205312513C>T	uc001hcf.1	-	1	788	c.220G>A	c.(220-222)Gtc>Atc	p.V74I	KLHDC8A_uc010prg.1_Intron|KLHDC8A_uc001hcg.1_Missense_Mutation_p.V74I	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA.	74								p.A73A(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGGGCGGTGACGGCCACCCCC	0.672000														101			47		0	0	0.014410	0	0
NLRP2	55655	broad.mit.edu	37	19	55493701	55493701	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr19:55493701A>T	uc021vbq.1	+	5	746	c.635A>T	c.(634-636)tAt>tTt	p.Y212F	NLRP2_uc010yfp.2_Missense_Mutation_p.Y189F|NLRP2_uc002qij.3_Missense_Mutation_p.Y212F|NLRP2_uc010esp.3_Missense_Mutation_p.Y190F|NLRP2_uc010esn.3_Missense_Mutation_p.Y188F|NLRP2_uc010eso.3_Missense_Mutation_p.Y209F	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	212	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTGGTGCTGTATGGTCCTGCA	0.527000														73			48		0	0	0.013114	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651531	121651531	+	Silent	SNP	C	T	T	rs143422308		TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr7:121651531C>T	uc003vjy.3	+	11	2826	c.2431C>T	c.(2431-2433)Ctg>Ttg	p.L811L	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	811					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGAATCCATCCTGTCTTCCTA	0.458000														230			103		0	0	0.014410	0	0
SDHAP1	255812	broad.mit.edu	37	3	195701304	195701304	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr3:195701304C>T	uc011btq.1	-	7	1189	c.560G>A	c.(559-561)gGc>gAc	p.G187D	SDHAP1_uc003fvx.3_Non-coding_Transcript|SDHAP1_uc011btp.1_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA.																		AGGGCACATGCCTGACCAGAC	0.572000														21			10		0	0	0.003163	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439208	14439208	+	RNA	SNP	A	G	G			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr21:14439208A>G	uc002yja.4	+	9		c.2726A>G								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAGAGAAGAAATGCCAATATA	0.299000														36			10		0	0	0.006214	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38621370	38621370	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr19:38621370A>C	uc002ohk.3	+	9	3610	c.3101A>C	c.(3100-3102)aAg>aCg	p.K1034T		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1034	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GTCACTGTGAAGGTGGTCATC	0.627000														58			25		0	0	0.003330	0	0
HTRA4	203100	broad.mit.edu	37	8	38831823	38831823	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr8:38831823G>A	uc003xmj.3	+	0	156	c.41G>A	c.(40-42)tGc>tAc	p.C14Y		NM_153692	NP_710159	P83105	HTRA4_HUMAN	Homo sapiens HtrA serine peptidase 4 (HTRA4), mRNA.	14					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CTGGGACGATGCCTCCTGCCG	0.642000														23			7		0	0	0.001984	0	0
STAB1	23166	broad.mit.edu	37	3	52544437	52544437	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr3:52544437G>A	uc003dej.3	+	24	2775	c.2701G>A	c.(2701-2703)Gtc>Atc	p.V901I		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	901	EGF-like 7.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGATGGCCGCGTCTGTGTGGC	0.612000														24			29		0	0	0.010818	0	0
TMEM53	79639	broad.mit.edu	37	1	45120714	45120714	+	Silent	SNP	G	T	T			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr1:45120714G>T	uc001cmc.3	-	2	387	c.351C>A	c.(349-351)gtC>gtA	p.V117V	TMEM53_uc001cmd.3_Silent_p.V44V|TMEM53_uc009vxh.1_5'UTR|TMEM53_uc010ola.1_5'UTR	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN	Homo sapiens transmembrane protein 53 (TMEM53), mRNA.	117						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					GGTACAGCATGACGCCACCGT	0.577000											OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		16			23		2.21704e-12	2.76445e-12	0.002780	1	0
DAP3	7818	broad.mit.edu	37	1	155695184	155695185	+	Frame_Shift_Ins	INS	-	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr1:155695184_155695185insA	uc001flq.3	+	4	439_440	c.282_283insA	c.(280-285)ttcagtfs	p.F94fs	GON4L_uc021paz.1_Intron|DAP3_uc010pgl.2_Frame_Shift_Ins_p.F53fs|DAP3_uc010pgm.2_Frame_Shift_Ins_p.F60fs|DAP3_uc001fls.3_Frame_Shift_Ins_p.F94fs|DAP3_uc001flr.3_Frame_Shift_Ins_p.F94fs	NM_033657	NP_387506	P51398	RT29_HUMAN	Homo sapiens death associated protein 3 (DAP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	94					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TGAAGACATTCAGTGAAGCTTG	0.450													---	114	---	---	63	---					
WNT6	7475	broad.mit.edu	37	2	219724790	219724792	+	In_Frame_Del	DEL	GCT	-	-			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr2:219724790_219724792delGCT	uc002vjc.1	+	0	245_247	c.30_32delGCT	c.(28-33)gggctg>ggg	p.L17del		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 6 (WNT6), mRNA.	17					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	p.L17delL(1)		large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCGCCTCGGGCTGCTGCTGCTG	0.773													---	6	---	---	3	---					
CCDC13	152206	broad.mit.edu	37	3	42793437	42793438	+	Frame_Shift_Ins	INS	-	TC	TC			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr3:42793437_42793438insTC	uc003cly.4	-	4	677_678	c.593_594insGA	c.(592-594)gacfs	p.D198fs	CCDC13_uc003clz.2_Frame_Shift_Ins_p.D198fs|CCDC13_uc011azq.1_Frame_Shift_Ins_p.D198fs	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	198										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CCAATGCTCTGTCTCCCATCTG	0.609													---	62	---	---	25	---					
TMEM60	85025	broad.mit.edu	37	7	77423460	77423460	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr7:77423460delT	uc003ugn.3	-	1	458	c.231delA	c.(229-231)aaafs	p.K77fs	TMEM60_uc022ago.1_Frame_Shift_Del_p.K77fs	NM_032936	NP_116325	Q9H2L4	TMM60_HUMAN	Homo sapiens transmembrane protein 60 (TMEM60), mRNA.	77						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)	4						GGTACCAGGCTTTTTTTTTAA	0.408													---	197	---	---	9	---					
RBM17	84991	broad.mit.edu	37	10	6157412	6157414	+	Splice_Site	DEL	TCA	-	-			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr10:6157412_6157414delTCA	uc001ijb.3	+	12	1329	c.1103_splice	c.e12-2	p.A368_splice	RBM17_uc010qav.2_Splice_Site_p.A368_splice|RBM17_uc001ijc.3_Splice_Site	NM_032905	NP_116294	Q96I25	SPF45_HUMAN	Homo sapiens RNA binding motif protein 17 (RBM17), transcript variant 1, mRNA.	368	RRM.				RNA splicing|mRNA processing	spliceosomal complex	RNA binding|nucleotide binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						TGTTTGCCTTTCAGCGGTTGTTG	0.355													---	145	---	---	123	---					
R3HDM2	22864	broad.mit.edu	37	12	57674205	57674207	+	In_Frame_Del	DEL	TGC	-	-			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr12:57674205_57674207delTGC	uc009zpm.1	-	11	1271_1273	c.1236_1238delGCA	c.(1234-1239)cagcaa>caa	p.412_413QQ>Q	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_uc001snr.2_In_Frame_Del_p.139_140QQ>Q|R3HDM2_uc001sns.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_uc001snt.2_In_Frame_Del_p.426_427QQ>Q	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	412	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCAGGAAGTtgctgctgctgct	0.576													---	112	---	---	7	---					
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr14:23845057_23845058delTG	uc001wjr.3	+	1	760_761	c.502_503delTG	c.(502-504)tgtfs	p.C168fs	IL25_uc001wjq.3_Frame_Shift_Del_p.C152fs|CMTM5_uc010akn.3_5'Flank|CMTM5_uc001wju.3_5'Flank|CMTM5_uc010ako.3_5'Flank|CMTM5_uc001wjs.3_5'Flank|CMTM5_uc001wjt.3_5'Flank|CMTM5_uc010akm.3_5'Flank	NM_022789	NP_073626	Q9H293	IL25_HUMAN	Homo sapiens interleukin 25 (IL25), transcript variant 1, mRNA.	168					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604													---	197	---	---	7	---					
RTL1	388015	broad.mit.edu	37	14	101348358	101348358	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr14:101348358delT	uc010txj.1	-	0	2827	c.2768delA	c.(2767-2769)aagfs	p.K923fs	MIR127_uc001yig.3_5'Flank|MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	923										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TGGAAGAATCTTCATCTCCGC	0.537													---	36	---	---	17	---					
EFCAB6	64800	broad.mit.edu	37	22	44107398	44107399	+	Frame_Shift_Ins	INS	-	A	A			TCGA-BQ-5882-01A-11D-1589-08	TCGA-BQ-5882-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65963b3-cd4d-4c08-afc0-15bce361cd03	b04cfca5-40a2-4035-b650-45bc55651c71	g.chr22:44107398_44107399insA	uc003bdy.2	-	9	1301_1302	c.987_988insT	c.(985-990)tttgtafs	p.F329fs	EFCAB6_uc003bdz.2_Frame_Shift_Ins_p.F177fs|EFCAB6_uc010gzi.2_Frame_Shift_Ins_p.F177fs|EFCAB6_uc010gzk.1_Non-coding_Transcript|EFCAB6_uc011aqa.2_Frame_Shift_Ins_p.F223fs|EFCAB6_uc003bea.2_Frame_Shift_Ins_p.F326fs	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	329	EF-hand 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATTTGGTATACAAAAGTGTCGA	0.381													---	62	---	---	25	---					
