Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SOCS7	30837	broad.mit.edu	37	17	36508826	36508826	+	Silent	SNP	C	C	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr17:36508826C>A	uc002hqa.3	+	0	820	c.699C>A	c.(697-699)acC>acA	p.T233T	SOCS7_uc010cvl.3_Silent_p.T233T|SOCS7_uc002hqb.3_Non-coding_Transcript	NM_014598	NP_055413	O14512	SOCS7_HUMAN	Homo sapiens suppressor of cytokine signaling 7 (SOCS7), mRNA.	233	Mediates interaction with SORBS3.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	SH3 domain binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					GGGATGGGACCGGCAAGAGGC	0.667000													7	25					2.52707e-12	2.91215e-12	1	1	0
AMFR	267	broad.mit.edu	37	16	56396896	56396896	+	Silent	SNP	A	A	G			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr16:56396896A>G	uc002eiy.3	-	13	2062	c.1857T>C	c.(1855-1857)tcT>tcC	p.S619S	AMFR_uc002eix.3_Silent_p.S253S	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	Homo sapiens autocrine motility factor receptor (AMFR), mRNA.	619					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TCACGGGGTCAGAGGACGCAC	0.567000													3	50					0	0	1	0	0
ETNK2	55224	broad.mit.edu	37	1	204103755	204103755	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr1:204103755C>G	uc001han.4	-	6	1409	c.1082G>C	c.(1081-1083)gGg>gCg	p.G361A	ETNK2_uc010pqr.2_Intron|ETNK2_uc001hao.4_Intron|ETNK2_uc010pqs.2_Intron|ETNK2_uc010pqt.2_Intron			Q9NVF9	EKI2_HUMAN	Homo sapiens ethanolamine kinase 2 (ETNK2), mRNA.	0							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GGCAATCTCCCCATGCCTGTT	0.562000													27	102					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30734928	30734928	+	Silent	SNP	T	T	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr16:30734928T>C	uc002dze.1	+	24	4568	c.4183T>C	c.(4183-4185)Ttg>Ctg	p.L1395L	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.L1190L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1395	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGCTGCCCCCTTGACCATCTC	0.567000													24	79					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	132002781	132002781	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr8:132002781G>A	uc003ytd.4	-	1	1224	c.968C>T	c.(967-969)gCc>gTc	p.A323V	ADCY8_uc010mds.3_Missense_Mutation_p.A323V	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	323					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CACTGCCTGGGCCACAACCTA	0.428000										HNSCC(32;0.087)			4	59					0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122664157	122664157	+	Splice_Site	SNP	G	G	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr10:122664157G>A	uc021pzt.1	+	25	3274	c.3028_splice	c.e25-1	p.T1010_splice	WDR11_uc010qte.2_Splice_Site_p.T612_splice|WDR11_uc001lfd.1_Splice_Site_p.T528_splice|AX747838_uc001lfe.1_5'Flank	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	1010						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TCTCTTACTAGACAGACAGAG	0.358000													11	64					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131362363	131362363	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr9:131362363A>T	uc004bvl.4	+	26	3690	c.3548A>T	c.(3547-3549)gAa>gTa	p.E1183V	SPTAN1_uc011mbh.2_Missense_Mutation_p.E1195V|SPTAN1_uc004bvm.4_Missense_Mutation_p.E1183V|SPTAN1_uc004bvn.4_Missense_Mutation_p.E1163V	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	1183					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GAATAGGATGAAACTGATTCC	0.433000													8	61					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	T	G	rs10796418	by1000genomes	TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr1:16946407T>G	uc010ocf.2	-	2		c.491A>C			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		AGCAATCTCCTCACTCAGCTG	0.672000													6	48					0	0	1	0	0
SYDE2	84144	broad.mit.edu	37	1	85648463	85648463	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr1:85648463A>T	uc009wcm.3	-	2	1911	c.1862T>A	c.(1861-1863)cTt>cAt	p.L621H	SYDE2_uc001dku.4_Missense_Mutation_p.L621H	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	621					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TCCATCACTAAGGTAACCACC	0.378000													9	53					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr2:207025366G>A	uc002vbg.1	+	2	247	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Silent_p.P45P|EEF1B2_uc002vbh.1_Silent_p.P45P|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(10)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													6	154					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16941145	16941145	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr10:16941145G>C	uc001ioo.3	-	53	8500	c.8448C>G	c.(8446-8448)atC>atG	p.I2816M	CUBN_uc009xjq.1_Non-coding_Transcript|CUBN_uc009xjr.1_Missense_Mutation_p.I172M	NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2816	CUB 21.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGGGGATCTGATTGTACCAT	0.403000													3	76					0	0	1	0	0
PNPLA5	150379	broad.mit.edu	37	22	44280193	44280193	+	Missense_Mutation	SNP	G	G	A	rs149836456	byFrequency	TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr22:44280193G>A	uc003beg.3	-	6	1115	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W	PNPLA5_uc003beh.3_Missense_Mutation_p.R214W|PNPLA5_uc021wqw.1_Missense_Mutation_p.R328W|PNPLA5_uc021wqx.1_Missense_Mutation_p.R214W|PNPLA5_uc011aqc.2_Missense_Mutation_p.R188W	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	Homo sapiens patatin-like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA.	328					lipid catabolic process		hydrolase activity	p.R328W(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CGGGCCCACCGGCTGGGATCC	0.627000											OREG0026622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	62					0	0	1	0	0
AMOTL1	154810	broad.mit.edu	37	11	94533391	94533391	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr11:94533391G>T	uc001pfb.3	+	2	1205	c.1035G>T	c.(1033-1035)atG>atT	p.M345I	AMOTL1_uc001pfc.3_Missense_Mutation_p.M295I	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	345						cytoplasm|tight junction	identical protein binding	p.E344D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TCCACGAGATGGTCAAGCCCT	0.562000													17	80					1.96292e-10	2.21975e-10	1	1	0
PKD1	5310	broad.mit.edu	37	16	2152129	2152129	+	Silent	SNP	A	A	G	rs144582212	by1000genomes	TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr16:2152129A>G	uc002cos.1	-	25	9539	c.9330T>C	c.(9328-9330)ccT>ccC	p.P3110P	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.P3110P|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	3110					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCCACAGAAAGGGATGGCGC	0.667000													5	95					0	0	1	0	0
CA13	377677	broad.mit.edu	37	8	86162972	86162972	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr8:86162972C>T	uc003ydg.2	+	1	383	c.41C>T	c.(40-42)cCt>cTt	p.P14L	CA13_uc003ydf.1_Non-coding_Transcript	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	Homo sapiens carbonic anhydrase XIII (CA13), mRNA.	14					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						ATTTAAGGTCCTATTCACTGG	0.338000													9	64					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	C	rs28392876	by1000genomes	TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr1:16946438G>C	uc010ocf.2	-	2		c.460C>G			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		GCCTTCCGCCGGGCCAGCAGC	0.672000													6	46					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54648053	54648053	+	Silent	SNP	G	G	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr19:54648053G>A	uc002qdj.2	+	6	792	c.468G>A	c.(466-468)aaG>aaA	p.K156K	CNOT3_uc010yel.2_Silent_p.K156K|CNOT3_uc002qdi.3_Silent_p.K69K|CNOT3_uc002qdk.2_Silent_p.K156K|CNOT3_uc010ere.2_Non-coding_Transcript	NM_014516	NP_055331	O75175	CNOT3_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA.	156					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CACGCAAGAAGAAGGGCGACA	0.557000													53	274					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643075	1643075	+	Silent	SNP	A	A	G	rs1715357		TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr11:1643075A>G	uc009ycy.1	-	1	231	c.144T>C	c.(142-144)tcT>tcC	p.S48S	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	143						keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACCCCCACAAGAGCCATAGC	0.662000													5	66					0	0	1	0	0
CXorf30	645090	broad.mit.edu	37	X	36403047	36403047	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chrX:36403047C>T	uc011mkc.2	+	17	2476	c.1828C>T	c.(1828-1830)Cgt>Tgt	p.R610C		NM_001098843	NP_001092313	A6PW82	CX030_HUMAN	Homo sapiens chromosome X open reading frame 30 (CXorf30), mRNA.	610										breast(1)|lung(2)|stomach(1)	4						TAATTTTGTCCGTGAAAATAC	0.383000													40	105					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100231924	100231924	+	Silent	SNP	T	T	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr4:100231924T>C	uc003hus.4	-	7	1185	c.1101A>G	c.(1099-1101)aaA>aaG	p.K367K	ADH1B_uc003hut.4_Silent_p.K327K|ADH1B_uc011ceh.2_Silent_p.K212K|ADH1B_uc011cei.1_Silent_p.K327K	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	367					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	AAATCTACCTTTTCCCAGAGT	0.333000													9	54					0	0	1	0	0
TBC1D20	128637	broad.mit.edu	37	20	419299	419299	+	Silent	SNP	C	C	T	rs141648576		TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr20:419299C>T	uc002wds.3	-	7	1281	c.1143G>A	c.(1141-1143)gcG>gcA	p.A381A	TBC1D20_uc002wdt.3_Non-coding_Transcript|TBC1D20_uc002wdv.3_Silent_p.A204A|TBC1D20_uc021vzm.1_5'Flank	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN	Homo sapiens TBC1 domain family, member 20 (TBC1D20), mRNA.	381					interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				CCAGTGCAGCCGCTCCAAGTG	0.532000													3	101					0	0	1	0	0
UBE2K	3093	broad.mit.edu	37	4	39757353	39757353	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr4:39757353A>G	uc003guu.4	+	3	577	c.293A>G	c.(292-294)gAt>gGt	p.D98G	UBE2K_uc003gus.4_Missense_Mutation_p.D98G|UBE2K_uc003gut.4_Missense_Mutation_p.D47G|UBE2K_uc010ifn.3_Non-coding_Transcript|UBE2K_uc011byq.2_Intron|UBE2K_uc003guq.4_5'UTR	NM_005339	NP_005330	P61086	UBE2K_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2K (UBE2K), transcript variant 1, mRNA.	98					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|ubiquitin protein ligase binding|ubiquitin-ubiquitin ligase activity			large_intestine(1)|lung(1)|ovary(2)	4						ATCCTGAAAGATCAATGGTAA	0.343000													5	32					0	0	1	0	0
MED10	84246	broad.mit.edu	37	5	6378594	6378594	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr5:6378594C>A	uc003jdo.3	-	0	46	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_032286	NP_115662	Q9BTT4	MED10_HUMAN	Homo sapiens mediator complex subunit 10 (MED10), mRNA.	1					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						ACTTCTCCGCCATCGCCTCGG	0.637000													6	25					2.17888e-05	2.33313e-05	1	1	0
SHBG	6462	broad.mit.edu	37	17	7534128	7534128	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr17:7534128C>G	uc002gie.2	+	2	372	c.334C>G	c.(334-336)Cac>Gac	p.H112D	SHBG_uc010cmu.2_Missense_Mutation_p.H54D|SHBG_uc010cmo.2_Missense_Mutation_p.H54D|SHBG_uc010cmp.2_Missense_Mutation_p.H54D|SHBG_uc010cmq.2_Missense_Mutation_p.H54D|SHBG_uc010cmr.2_Missense_Mutation_p.H54D|SHBG_uc010cms.2_Missense_Mutation_p.H54D|SHBG_uc010cmt.2_Missense_Mutation_p.H54D|SAT2_uc002gib.1_5'Flank|SAT2_uc002gic.2_5'Flank|SHBG_uc010cmz.2_Missense_Mutation_p.H54D|SHBG_uc010cmv.2_Missense_Mutation_p.H54D|SHBG_uc010cmw.2_Missense_Mutation_p.H54D|SHBG_uc010cmx.2_Missense_Mutation_p.H54D|SHBG_uc010cmy.2_Missense_Mutation_p.H54D|SHBG_uc002gid.3_Missense_Mutation_p.H54D|SHBG_uc010cnd.2_Missense_Mutation_p.H112D|SHBG_uc010cna.2_Missense_Mutation_p.H112D|SHBG_uc010vue.1_Missense_Mutation_p.H112D|SHBG_uc010vuf.1_Missense_Mutation_p.H112D|SHBG_uc010cnb.2_Missense_Mutation_p.H112D|SHBG_uc010cnc.2_Missense_Mutation_p.H112D	NM_001040	NP_001031	P04278	SHBG_HUMAN	Homo sapiens sex hormone-binding globulin (SHBG), transcript variant 1, mRNA.	112	Laminin G-like 1.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	ACTGCACAATCACTGGGCCCA	0.567000													44	115					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070690	114070690	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr3:114070690G>A	uc003ebi.3	-	3	415	c.235C>T	c.(235-237)Cac>Tac	p.H79Y	ZBTB20_uc003ebj.3_Missense_Mutation_p.H6Y|ZBTB20_uc010hqp.3_Missense_Mutation_p.H6Y|ZBTB20_uc003ebk.3_Missense_Mutation_p.H6Y|ZBTB20_uc003ebl.3_Missense_Mutation_p.H6Y|ZBTB20_uc003ebm.3_Missense_Mutation_p.H6Y|ZBTB20_uc003ebn.3_Missense_Mutation_p.H6Y|ZBTB20-AS1_uc003ebo.2_Non-coding_Transcript	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V78G(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TTGATGCTGTGAATGCGCTCG	0.547000													17	178					0	0	1	0	0
OCIAD2	132299	broad.mit.edu	37	4	48887522	48887522	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr4:48887522G>T	uc003gyt.3	-	6	647	c.444C>A	c.(442-444)gaC>gaA	p.D148E	OCIAD2_uc003gyu.3_3'UTR	NM_001014446	NP_001014446	Q56VL3	OCAD2_HUMAN	Homo sapiens OCIA domain containing 2 (OCIAD2), transcript variant 1, mRNA.	148						endosome				kidney(1)|lung(3)|skin(1)|urinary_tract(1)	6						AAGGCTGAGAGTCTCCCTTCT	0.368000													26	105					9.85521e-28	1.19248e-27	1	1	0
ABCA8	10351	broad.mit.edu	37	17	66878037	66878037	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr17:66878037C>A	uc002jhq.3	-	30	4253	c.3913G>T	c.(3913-3915)Gcc>Tcc	p.A1305S	ABCA8_uc002jhp.3_Missense_Mutation_p.A1265S|ABCA8_uc010wqq.2_Missense_Mutation_p.A1300S	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1265	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTTCTCGTGGCTATCTTATTC	0.473000													22	71					5.61819e-17	6.66471e-17	1	1	0
TEP1	7011	broad.mit.edu	37	14	20845648	20845648	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr14:20845648G>T	uc001vxe.3	-	40	5919	c.5879C>A	c.(5878-5880)tCc>tAc	p.S1960Y	TEP1_uc010ahk.3_Missense_Mutation_p.S1303Y|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.S1852Y|TEP1_uc010tlh.1_Missense_Mutation_p.S298Y	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1960					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGCCCCCTGGGAACCTAGAGA	0.582000													14	51					2.23348e-06	2.45683e-06	1	1	0
MCM3AP	8888	broad.mit.edu	37	21	47664760	47664760	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr21:47664760C>T	uc002zir.1	-	22	5035	c.4999G>A	c.(4999-5001)Ggg>Agg	p.G1667R	MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Missense_Mutation_p.G162R|MCM3AP_uc002zip.1_Missense_Mutation_p.G408R|MCM3AP_uc002ziq.1_Missense_Mutation_p.G594R|MCM3AP-AS1_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1667					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AGCTGGAACCCGAGCACAGCC	0.642000													32	79					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	242026825	242026825	+	Silent	SNP	A	A	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr2:242026825A>T	uc002wah.1	+	29	4140	c.4140A>T	c.(4138-4140)cgA>cgT	p.R1380R	SNED1_uc002wai.1_Silent_p.R582R|SNED1_uc002waj.1_Intron	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	1380					cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GAGTCTACCGAGTTCACCAAG	0.488000													57	101					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95719352	95719352	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr10:95719352G>A	uc009xuj.2	-	0	2321	c.1802C>T	c.(1801-1803)cCg>cTg	p.P601L						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		GTCCTCCACCGGGTTTCCCAC	0.478000													4	175					0	0	1	0	0
LCN10	414332	broad.mit.edu	37	9	139633991	139633991	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr9:139633991T>C	uc004civ.3	-	5	648	c.589A>G	c.(589-591)Acc>Gcc	p.T197A	LCN10_uc010nbq.3_Missense_Mutation_p.T184A|LCN10_uc011mee.2_Missense_Mutation_p.T161A|LCN10_uc011mef.2_Non-coding_Transcript|LCN10_uc011med.2_Non-coding_Transcript|LCN10_uc004ciw.3_Non-coding_Transcript|LCN10_uc022bpt.1_3'UTR	NM_001001712	NP_001001712	Q6JVE6	LCN10_HUMAN	Homo sapiens lipocalin 10 (LCN10), mRNA.	184					transport	extracellular region	binding			breast(2)|cervix(1)|large_intestine(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		GGCAGGATGGTGTGTGTACGG	0.617000													18	126					0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6646473	6646473	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr11:6646473C>G	uc001mem.1	-	18	7503	c.7102G>C	c.(7102-7104)Gat>Cat	p.D2368H	DCHS1_uc021qdb.1_5'Flank	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	2368	Cadherin 22.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATTGACATCCTCCACAAGC	0.587000													15	98					0	0	1	0	0
EFCAB1	79645	broad.mit.edu	37	8	49647656	49647656	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr8:49647656G>A	uc003xqo.2	-	0	215	c.55C>T	c.(55-57)Cat>Tat	p.H19Y	EFCAB1_uc003xqn.3_Non-coding_Transcript|EFCAB1_uc011ldj.1_Missense_Mutation_p.H19Y|EFCAB1_uc010lxx.2_Non-coding_Transcript|EFCAB1_uc011ldk.1_Non-coding_Transcript	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	Homo sapiens EF-hand calcium binding domain 1 (EFCAB1), transcript variant 1, mRNA.	19							calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TACTTACAATGCTTGCAATTT	0.602000													5	58					0	0	1	0	0
TLE3	7090	broad.mit.edu	37	15	70368460	70368460	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr15:70368460T>A	uc002asl.2	-	3	591	c.290A>T	c.(289-291)cAg>cTg	p.Q97L	TLE3_uc002ask.2_Missense_Mutation_p.Q25L|TLE3_uc010ukd.1_Missense_Mutation_p.Q84L|TLE3_uc010bil.1_Missense_Mutation_p.Q91L|TLE3_uc002asn.2_Missense_Mutation_p.Q91L|TLE3_uc002asm.2_Missense_Mutation_p.Q91L|TLE3_uc002asp.2_Missense_Mutation_p.Q91L|TLE3_uc002aso.2_Missense_Mutation_p.Q91L|TLE3_uc010bim.1_5'Flank	NM_001105192	NP_001098662	Q04726	TLE3_HUMAN	Homo sapiens transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) (TLE3), transcript variant 2, mRNA.	91	Gln-rich.				Wnt receptor signaling pathway|organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGGCATGATCTGTGCTAAAAT	0.438000													5	36					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21119517	21119517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr22:21119517C>T	uc002zsz.4	-	20	2532	c.2271G>A	c.(2269-2271)tgG>tgA	p.W757*		NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	757					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ATTCTTCTGGCCAGAGTCCTG	0.493000													20	94					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93480801	93480801	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr15:93480801C>T	uc002bsp.3	+	5	1072	c.497C>T	c.(496-498)gCa>gTa	p.A166V	CHD2_uc002bsm.2_Missense_Mutation_p.A166V|CHD2_uc002bsn.3_Missense_Mutation_p.A166V|CHD2_uc002bso.1_Missense_Mutation_p.A166V|CHD2_uc010urb.2_Missense_Mutation_p.A179V	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	166					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGCACCAGTGCAGAGAGTGAG	0.403000													3	64					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156851384	156851384	+	Silent	SNP	C	C	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr1:156851384C>T	uc001fqh.1	+	16	2397	c.2341C>T	c.(2341-2343)Ctg>Ttg	p.L781L	NTRK1_uc001fqf.1_Silent_p.L745L|NTRK1_uc009wsi.1_Silent_p.L480L|NTRK1_uc001fqi.1_Silent_p.L775L|NTRK1_uc009wsk.1_Silent_p.L778L	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	781	Protein kinase.			QQRHSIKDVHARLQALAQAPPVYLDVLG -> SNATASRMC TPGCKPWPRHLLSTWMSWARGPAQGLGVVSRNTGACPQHPP (in Ref. 9; CAA27243).	Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.R780G(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GCACGCCCGGCTGCAAGCCCT	0.697000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			3	12					0	0	1	0	0
SETD4	54093	broad.mit.edu	37	21	37408418	37408418	+	Silent	SNP	G	G	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr21:37408418G>C	uc002yuw.2	-	9	2693	c.1320C>G	c.(1318-1320)acC>acG	p.T440T	SETD4_uc021wiy.1_Silent_p.T440T|SETD4_uc002yuu.3_Non-coding_Transcript|SETD4_uc002yux.2_Silent_p.T416T	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	Homo sapiens SET domain containing 4 (SETD4), transcript variant 1, mRNA.	440				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898).						autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						GGTGAAATCAGGTAAAAGCTG	0.433000													11	41					0	0	1	0	0
POM121C	100101267	broad.mit.edu	37	7	75054953	75054953	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr7:75054953G>A	uc003udk.4	-	8	1496	c.611C>T	c.(610-612)cCa>cTa	p.P204L		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	446	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TGCTGCCAATGGAGTTGAAGA	0.453000													25	155					0	0	1	0	0
RMI1	80010	broad.mit.edu	37	9	86617525	86617525	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr9:86617525G>T	uc022bjb.1	+	0	1624	c.1624G>T	c.(1624-1626)Gat>Tat	p.D542Y	RMI1_uc004anq.4_Missense_Mutation_p.D542Y|RMI1_uc004anr.4_Missense_Mutation_p.D542Y|RMI1_uc004anp.4_Missense_Mutation_p.D542Y|RMI1_uc004ans.4_Missense_Mutation_p.D542Y	NM_024945	NP_079221	Q9H9A7	RMI1_HUMAN	Homo sapiens RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae) (RMI1), mRNA.	542					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TGCATATCTAGATGTAGACTT	0.368000													14	60					2.35188e-11	2.68469e-11	1	1	0
FABP5P3	220832	broad.mit.edu	37	7	152139645	152139645	+	RNA	SNP	G	G	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr7:152139645G>T	uc003wlb.3	+	1		c.400G>T								Homo sapiens fatty acid binding protein 5 pseudogene 3 (FABP5P3), non-coding RNA.																		CAGTTCAGCAGCTAGAAGGAA	0.542000													4	68					0.150653	0.151909	1	1	0
NUDT13	25961	broad.mit.edu	37	10	74879794	74879794	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr10:74879794G>T	uc001jtj.3	+	2	227	c.102G>T	c.(100-102)aaG>aaT	p.K34N	NUDT13_uc010qkc.2_5'UTR|NUDT13_uc010qkd.2_5'UTR|NUDT13_uc009xqw.3_Non-coding_Transcript|NUDT13_uc001jtk.3_Missense_Mutation_p.K34N|NUDT13_uc010qke.2_5'UTR|NUDT13_uc001jtl.3_Missense_Mutation_p.K34N	NM_015901	NP_056985	Q86X67	NUD13_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 13 (NUDT13), mRNA.	34							hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					TTGAACTGAAGGAAGATGATG	0.403000													10	21					1.49906e-05	1.61952e-05	1	1	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	202341	202341	+	Silent	SNP	C	C	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chrGL000192.1:202341C>T	uc010yii.1	-	5	884	c.663G>A	c.(661-663)gcG>gcA	p.A221A	HYDIN_uc010yih.1_Non-coding_Transcript			Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.	1919										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCAGATATTTCGCCCTCATCT	0.522000													8	23					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46898795	46898795	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr11:46898795T>C	uc001ndn.4	-	22	3475	c.3232A>G	c.(3232-3234)Att>Gtt	p.I1078V		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1078					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TTCATGGTAATGTTGATTGGT	0.507000													21	111					0	0	1	0	0
ZNF140	7699	broad.mit.edu	37	12	133683062	133683062	+	Missense_Mutation	SNP	T	T	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr12:133683062T>C	uc001ulo.3	+	4	1869	c.1199T>C	c.(1198-1200)cTc>cCc	p.L400P	ZNF140_uc001ulp.3_Missense_Mutation_p.L297P|ZNF140_uc010tbu.2_Missense_Mutation_p.L297P	NM_003440	NP_003431	P52738	ZN140_HUMAN	Homo sapiens zinc finger protein 140 (ZNF140), mRNA.	400						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AGCTTTTCCCTCATTCTACAT	0.448000													6	38					0	0	1	0	0
KIAA0753	9851	broad.mit.edu	37	17	6526336	6526336	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr17:6526336G>C	uc002gde.4	-	5	1329	c.970C>G	c.(970-972)Cga>Gga	p.R324G	KIAA0753_uc010vtd.2_5'Flank|KIAA0753_uc010clo.3_Missense_Mutation_p.R25G|KIAA0753_uc010vte.2_Missense_Mutation_p.R25G	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	324						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TGCTCCCCTCGGTCAGTAAAC	0.517000													53	143					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156908922	156908922	+	Missense_Mutation	SNP	C	C	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr5:156908922C>A	uc003lwz.3	-	21	2659	c.2580G>T	c.(2578-2580)aaG>aaT	p.K860N	ADAM19_uc003lww.2_Intron|ADAM19_uc003lwy.3_Missense_Mutation_p.K459N|ADAM19_uc021ygq.1_5'Flank|ADAM19_uc011ddr.1_Missense_Mutation_p.K791N	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	860					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCGGGAGTGCCTTCTGGGGCG	0.622000													10	33					2.32078e-09	2.60014e-09	1	1	0
OBSL1	23363	broad.mit.edu	37	2	220416332	220416332	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr2:220416332G>T	uc010fwk.3	-	19	5916	c.5602C>A	c.(5602-5604)Cat>Aat	p.H1868N	MIR3132_uc021vxc.1_5'Flank	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	1868	Ig-like 14.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CGAACGTCATGGATGACCAGG	0.657000													39	117					8.78508e-14	1.03203e-13	1	1	0
TAF1C	9013	broad.mit.edu	37	16	84214979	84214979	+	Silent	SNP	C	C	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr16:84214979C>A	uc002fhn.3	-	9	1439	c.1197G>T	c.(1195-1197)gtG>gtT	p.V399V	TAF1C_uc010vnz.2_Silent_p.V67V|TAF1C_uc002fho.3_5'UTR|TAF1C_uc010voa.2_Silent_p.V67V|TAF1C_uc002fhm.3_Silent_p.V306V|TAF1C_uc010vnx.2_Silent_p.V373V|TAF1C_uc010vny.2_5'UTR|TAF1C_uc010vob.2_3'UTR	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	399					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CCACGGTCAGCACCCGAGGGT	0.667000													7	101					0.00448238	0.00459634	1	1	0
SERINC1	57515	broad.mit.edu	37	6	122766258	122766258	+	Missense_Mutation	SNP	C	C	G			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr6:122766258C>G	uc003pyy.1	-	9	1363	c.1293G>C	c.(1291-1293)tgG>tgC	p.W431C		NM_020755	NP_065806	Q9NRX5	SERC1_HUMAN	Homo sapiens serine incorporator 1 (SERINC1), mRNA.	431					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		CGATGCCAATCCAACTGGAAG	0.428000													13	49					0	0	1	0	0
PRKRIP1	79706	broad.mit.edu	37	7	102065565	102065565	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr7:102065565T>A	uc011kkr.1	+	4	552	c.497T>A	c.(496-498)tTt>tAt	p.F166Y	PRKRIP1_uc011kkq.1_3'UTR|PRKRIP1_uc003uzh.2_3'UTR|AK097289_uc003uzi.1_3'UTR			Q9H875	PKRI1_HUMAN	Homo sapiens PRKR interacting protein 1 (IL11 inducible) (PRKRIP1), mRNA.	0						nucleolus				endometrium(1)|lung(4)|ovary(1)	6						ATGACAATGTTTGCCACAGCC	0.622000													3	20					0	0	1	0	0
DEFB110	245913	broad.mit.edu	37	6	49986835	49986835	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr6:49986835T>G	uc003pac.3	-	1	105	c.59A>C	c.(58-60)aAa>aCa	p.K20T	DEFB110_uc011dwr.2_Intron	NM_001037497	NP_001032586	Q30KQ9	DB110_HUMAN	Homo sapiens defensin, beta 110 locus (DEFB110), transcript variant 1, mRNA.	20					defense response to bacterium	extracellular region		p.A19P(1)		endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					ATATTTCTTTTTGGCTGTAAG	0.353000													4	70					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74640247	74640247	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr15:74640247A>T	uc002axt.2	-	1	574	c.419T>A	c.(418-420)cTg>cAg	p.L140Q	CYP11A1_uc002axs.2_5'UTR|CYP11A1_uc010bjm.1_Intron|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.3_Missense_Mutation_p.L140Q	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	140					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TCACTTCAACAGGACTCCTAT	0.622000													11	71					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1394869	1394869	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr5:1394869C>T	uc003jck.3	-	14	1970	c.1844G>A	c.(1843-1845)cGc>cAc	p.R615H		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	615					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		p.R615P(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GAGCCAGTGGCGGAGCTGGAA	0.522000													3	54					0	0	1	0	0
DUSP26	78986	broad.mit.edu	37	8	33454873	33454873	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr8:33454873G>T	uc003xjp.3	-	1	494	c.161C>A	c.(160-162)aCa>aAa	p.T54K	DUSP26_uc003xjq.3_Missense_Mutation_p.T54K	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	Homo sapiens dual specificity phosphatase 26 (putative) (DUSP26), mRNA.	54						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		TGTCTTGCCTGTGTAGAGGAG	0.572000													14	61					0.00316338	0.00327153	1	1	0
LZTS2	84445	broad.mit.edu	37	10	102763858	102763858	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr10:102763858G>C	uc001ksj.3	+	2	1173	c.1003G>C	c.(1003-1005)Gac>Cac	p.D335H	LZTS2_uc010qpw.2_Missense_Mutation_p.D335H|LZTS2_uc001ksk.3_Missense_Mutation_p.D335H|LZTS2_uc001ksl.3_Missense_Mutation_p.D335H|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	335					Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		AAAGCTCCGAGACCGGGAGGC	0.637000													25	99					0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17550057	17550057	+	Silent	SNP	A	A	G			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr3:17550057A>G	uc010hev.3	-	3	270	c.6T>C	c.(4-6)taT>taC	p.Y2Y	TBC1D5_uc003cbf.3_Silent_p.Y2Y|TBC1D5_uc003cbe.3_Silent_p.Y2Y	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	2						intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						ATAAGGAATGATACATTGTGG	0.403000													26	61					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56919183	56919183	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr16:56919183A>C	uc002ekd.4	+	14	1861	c.1832A>C	c.(1831-1833)aAt>aCt	p.N611T	SLC12A3_uc010ccm.3_Missense_Mutation_p.N611T|SLC12A3_uc010ccn.3_Missense_Mutation_p.N610T	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	611					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CCAGAGGTAAATTGGGGCTCC	0.567000													27	43					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9100033	9100033	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr3:9100033G>T	uc003brf.1	-	6	1601	c.925C>A	c.(925-927)Ctg>Atg	p.L309M	SRGAP3_uc003brg.1_Missense_Mutation_p.L309M|SRGAP3_uc003bri.1_Non-coding_Transcript|SRGAP3_uc003brj.1_Missense_Mutation_p.L169M	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	309					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CGGGAATCCAGGTTGTCCACT	0.552000			T	RAF1	pilocytic astrocytoma								22	119					7.41945e-09	8.23627e-09	1	1	0
RPL24	6152	broad.mit.edu	37	3	101404668	101404668	+	Silent	SNP	T	T	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr3:101404668T>C	uc003dvh.1	-	2	229	c.186A>G	c.(184-186)ggA>ggG	p.G62G		NM_000986	NP_000977	P83731	RL24_HUMAN	Homo sapiens ribosomal protein L24 (RPL24), mRNA.	62					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome			large_intestine(1)|lung(2)|urinary_tract(1)	4						TTACCGACTGTCCCTTTTTGT	0.443000													32	84					0	0	1	0	0
TOMM40	10452	broad.mit.edu	37	19	45397281	45397281	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr19:45397281G>A	uc002paa.4	+	4	797	c.601G>A	c.(601-603)Gca>Aca	p.A201T	TOMM40_uc002ozz.3_Missense_Mutation_p.A201T|TOMM40_uc002ozx.4_Missense_Mutation_p.A201T|TOMM40_uc002ozy.4_Missense_Mutation_p.A201T	NM_001128917	NP_006105	O96008	TOM40_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast) (TOMM40), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	201					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		TGACTTCACAGCAGCCGTCAC	0.617000													9	75					0	0	1	0	0
C11orf40	143501	broad.mit.edu	37	11	4592781	4592781	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr11:4592781G>C	uc010qyg.2	-	3	526	c.526C>G	c.(526-528)Cgc>Ggc	p.R176G		NM_144663	NP_653264	Q8WZ69	CK040_HUMAN	Homo sapiens chromosome 11 open reading frame 40 (C11orf40), mRNA.	176										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		taatcagtgcggtccaattca	0.433000													10	60					0	0	1	0	0
KPNA7	402569	broad.mit.edu	37	7	98785927	98785927	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr7:98785927A>G	uc010lft.2	-	5	896	c.896T>C	c.(895-897)gTc>gCc	p.V299A		NM_001145715	NP_001139187	A9QM74	IMA8_HUMAN	Homo sapiens karyopherin alpha 7 (importin alpha 8) (KPNA7), mRNA.	299					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(3)|endometrium(2)|kidney(1)|prostate(1)|skin(1)	8						ATTTACCAAGACATTGAGTTC	0.552000													14	112					0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113704022	113704022	+	Missense_Mutation	SNP	G	G	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr9:113704022G>A	uc011lwo.2	-	1	477	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W	LPAR1_uc004bfa.3_Missense_Mutation_p.R158W|LPAR1_uc011lwm.2_Missense_Mutation_p.R159W|LPAR1_uc004bfc.3_Missense_Mutation_p.R158W|LPAR1_uc011lwn.2_Missense_Mutation_p.R140W|LPAR1_uc004bfb.3_Missense_Mutation_p.R158W|LPAR1_uc010mub.3_Missense_Mutation_p.R158W	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	158					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		p.R158W(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TTGCTCATCCGTGTGTGGAGC	0.542000													22	124					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96643871	96643871	+	Splice_Site	SNP	T	T	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr2:96643871T>C	uc010yug.1	-	6		c.884_splice	c.e6+1							Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.									p.P266P(2)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAATCTTACCTGGATTGCTAT	0.239000													2	5					0	0	1	0	0
UBR3	130507	broad.mit.edu	37	2	170762609	170762609	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr2:170762609T>A	uc010zdi.2	+	9	1714	c.1714T>A	c.(1714-1716)Ttt>Att	p.F572I		NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	572					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						CTATGCTGCCTTTGCTGCTGA	0.388000													23	47					0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492814	21492814	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr20:21492814T>G	uc002wsi.3	-	1	926	c.569A>C	c.(568-570)aAa>aCa	p.K190T		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	190					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CTCCATACCTTTCTCGGCCCG	0.667000													4	32					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885037	24885037	+	Missense_Mutation	SNP	G	G	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr14:24885037G>T	uc001wpf.4	+	8	4400	c.4082G>T	c.(4081-4083)gGc>gTc	p.G1361V		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1361					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GTGGCCTGCGGCCTGGAGCGC	0.627000													23	49					3.28513e-13	3.82212e-13	1	1	0
EBPL	84650	broad.mit.edu	37	13	50235160	50235160	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr13:50235160G>C	uc001vdg.3	-	3	628	c.565C>G	c.(565-567)Cta>Gta	p.L189V	EBPL_uc001vdh.3_Non-coding_Transcript|EBPL_uc001vdi.3_3'UTR	NM_032565	NP_115954	Q9BY08	EBPL_HUMAN	Homo sapiens emopamil binding protein-like (EBPL), mRNA.	189					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	p.L189V(18)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTGAGTTCTAGCCATGACTGC	0.418000													3	120					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739262	62739262	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr1:62739262C>T	uc001dah.4	-	2	1891	c.1514G>A	c.(1513-1515)gGc>gAc	p.G505D	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	505										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTGTTCAGTGCCTGCTTCTTC	0.602000													15	92					0	0	1	0	0
ERMN	57471	broad.mit.edu	37	2	158178038	158178038	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr2:158178038T>A	uc002tzi.3	-	3	794	c.639A>T	c.(637-639)gaA>gaT	p.E213D	ERMN_uc010zcj.2_Missense_Mutation_p.E94D|ERMN_uc002tzh.3_Missense_Mutation_p.E200D|ERMN_uc010zck.2_Missense_Mutation_p.E180D	NM_001009959	NP_065762	Q8TAM6	ERMIN_HUMAN	Homo sapiens ermin, ERM-like protein (ERMN), transcript variant 1, mRNA.	200						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TCACTCGAACTtcatcttcat	0.383000													12	52					0	0	1	0	0
UNC5CL	222643	broad.mit.edu	37	6	41000635	41000635	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr6:41000635A>G	uc003opi.3	-	3	1036	c.937T>C	c.(937-939)Tac>Cac	p.Y313H		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	313	Interaction with RELA and NFKB1.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCTGAGATGTACGTGAGCTTC	0.632000													8	48					0	0	1	0	0
CDH24	64403	broad.mit.edu	37	14	23524349	23524349	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr14:23524349T>A	uc001wil.3	-	2	675	c.415A>T	c.(415-417)Aaa>Taa	p.K139*	CDH24_uc010akf.3_Nonsense_Mutation_p.K139*|CDH24_uc001win.3_Nonsense_Mutation_p.K139*	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	139	Cadherin 1.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TCTTGCACTTTGATGATGAAC	0.587000											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	86					0	0	1	0	0
TOB1	10140	broad.mit.edu	37	17	48940734	48940734	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr17:48940734G>C	uc002isw.3	-	1	1088	c.645C>G	c.(643-645)gaC>gaG	p.D215E	TOB1_uc021uac.1_Missense_Mutation_p.D76E|TOB1_uc010wmz.2_Missense_Mutation_p.D215E|TOB1_uc021uad.1_Missense_Mutation_p.D215E	NM_005749	NP_005740	P50616	TOB1_HUMAN	Homo sapiens transducer of ERBB2, 1 (TOB1), transcript variant 1, mRNA.	215					negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GCTTCAAGAGGTCATTCACAT	0.527000													50	136					0	0	1	0	0
OTUD3	23252	broad.mit.edu	37	1	20233031	20233031	+	Silent	SNP	T	T	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr1:20233031T>C	uc001bcs.4	+	6	1061	c.942T>C	c.(940-942)aaT>aaC	p.N314N		NM_015207	NP_056022	Q5T2D3	OTUD3_HUMAN	Homo sapiens OTU domain containing 3 (OTUD3), mRNA.	314										breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGCTTAAATGAAGGCAGGA	0.488000													17	85					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr2:207025358A>G	uc002vbg.1	+	2	239	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Missense_Mutation_p.S43G|EEF1B2_uc002vbh.1_Missense_Mutation_p.S43G|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(8)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													4	149					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136060303	136060303	+	Missense_Mutation	SNP	T	T	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr3:136060303T>A	uc003era.1	-	30	3829	c.3537A>T	c.(3535-3537)agA>agT	p.R1179S	STAG1_uc003erb.1_Intron	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	1179					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TCACTCCAGTTCTCACTTTCA	0.423000													21	59					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	957703	957703	+	Silent	SNP	C	C	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr1:957703C>A	uc001ack.2	+	1	374	c.324C>A	c.(322-324)tcC>tcA	p.S108S		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	108	NtA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ACCAGGTGTCCACTGGGGACA	0.602000													25	138					1.836e-18	2.19957e-18	1	1	0
ASPG	374569	broad.mit.edu	37	14	104565246	104565246	+	Silent	SNP	C	C	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr14:104565246C>T	uc001yop.2	+	5	655	c.570C>T	c.(568-570)gaC>gaT	p.D190D	ASPG_uc001yoo.2_Silent_p.D218D|ASPG_uc001yoq.2_Silent_p.D190D|ASPG_uc001yor.2_Silent_p.D190D	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA.	190	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						CCAAGGTAGACGCTCGGAGGT	0.622000													12	43					0	0	1	0	0
TMBIM4	51643	broad.mit.edu	37	12	66546147	66546147	+	Silent	SNP	T	T	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr12:66546147T>C	uc009zqr.3	-	3	433	c.357A>G	c.(355-357)ttA>ttG	p.L119L	LLPH_uc010ssx.2_Non-coding_Transcript|TMBIM4_uc001stc.3_Silent_p.L72L|TMBIM4_uc001std.3_Silent_p.L41L|TMBIM4_uc001stf.3_Silent_p.L72L|TMBIM4_uc009zqs.3_Silent_p.L72L	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	Homo sapiens transmembrane BAX inhibitor motif containing 4 (TMBIM4), mRNA.	72						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		ACAGCAAAATTAAGGCAGGAC	0.303000													14	75					0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161495204	161495204	+	Silent	SNP	G	G	A			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr1:161495204G>A	uc001gaq.3	+	0	1169	c.756G>A	c.(754-756)ggG>ggA	p.G252G	TRNA_Gly_uc021pdc.1_5'Flank	NM_002155	NP_002146	P17066	HSP76_HUMAN	Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA.	252					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGAAGCATGGGAAGGACCTGA	0.627000													11	95					0	0	1	0	0
SPINK13	153218	broad.mit.edu	37	5	147661756	147661756	+	Silent	SNP	C	C	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr5:147661756C>T	uc003lpc.3	+	3	401	c.198C>T	c.(196-198)caC>caT	p.H66H	AK054753_uc003lpb.1_Intron|SPINK13_uc010jgt.3_Non-coding_Transcript	NM_001040129	NP_001035218	Q1W4C9	ISK13_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 13 (putative) (SPINK13), mRNA.	66	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity	p.H66P(1)		breast(2)|lung(3)	5						CAAATGGCCACACTTTCCAGA	0.403000													15	97					0	0	1	0	0
HPD	3242	broad.mit.edu	37	12	122281677	122281677	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr12:122281677T>G	uc001ubj.3	-	11	933	c.893A>C	c.(892-894)cAa>cCa	p.Q298P	HPD_uc001ubk.3_Missense_Mutation_p.Q259P	NM_002150	NP_001165464	P32754	HPPD_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	298					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)	CTCCCGCAGTTGTTTGTAGTA	0.557000													40	107					0	0	1	0	0
VWA5B2	90113	broad.mit.edu	37	3	183955086	183955086	+	Missense_Mutation	SNP	A	A	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr3:183955086A>T	uc011bra.2	+	10	1606	c.1606A>T	c.(1606-1608)Act>Tct	p.T536S	VWA5B2_uc011brb.2_Missense_Mutation_p.T317S|VWA5B2_uc003fnd.3_Missense_Mutation_p.T256S	NM_138345	NP_612354	B9EGN7	B9EGN7_HUMAN	Homo sapiens von Willebrand factor A domain containing 5B2 (VWA5B2), mRNA.	536										breast(3)|endometrium(4)|kidney(1)|lung(1)|prostate(1)|skin(5)	15						TGTGCCCGACACTGTGGAGGC	0.612000													15	90					0	0	1	0	0
ATXN3	4287	broad.mit.edu	37	14	92549507	92549507	+	Missense_Mutation	SNP	G	G	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr14:92549507G>C	uc021rzo.1	-	6	640	c.571C>G	c.(571-573)Ctt>Gtt	p.L191V	ATXN3_uc021ryv.1_Non-coding_Transcript|ATXN3_uc010twl.2_Missense_Mutation_p.L12V|ATXN3_uc021ryw.1_Non-coding_Transcript|ATXN3_uc021ryx.1_Missense_Mutation_p.L121V|ATXN3_uc021ryy.1_Missense_Mutation_p.L70V|ATXN3_uc021ryz.1_Intron|ATXN3_uc021rza.1_Intron|ATXN3_uc021rzb.1_Intron|ATXN3_uc021rzc.1_Non-coding_Transcript|ATXN3_uc021rzd.1_Intron|ATXN3_uc021rze.1_Missense_Mutation_p.L12V|ATXN3_uc021rzf.1_Intron|ATXN3_uc021rzg.1_Intron|ATXN3_uc021rzh.1_Non-coding_Transcript|ATXN3_uc021rzi.1_Intron|ATXN3_uc021rzj.1_Intron|ATXN3_uc021rzk.1_Non-coding_Transcript|ATXN3_uc021rzl.1_Non-coding_Transcript|ATXN3_uc001yac.4_Missense_Mutation_p.L191V|ATXN3_uc021rzm.1_Non-coding_Transcript|ATXN3_uc001yae.4_Missense_Mutation_p.L93V|ATXN3_uc021rzn.1_Non-coding_Transcript|ATXN3_uc021ryo.1_Non-coding_Transcript|ATXN3_uc021ryp.1_Non-coding_Transcript|ATXN3_uc021ryq.1_Non-coding_Transcript|ATXN3_uc001yad.4_Missense_Mutation_p.L136V|ATXN3_uc021ryr.1_Non-coding_Transcript|ATXN3_uc021rys.1_Missense_Mutation_p.L93V|ATXN3_uc021ryt.1_Non-coding_Transcript|ATXN3_uc021ryu.1_Missense_Mutation_p.L140V|ATXN3_uc010aug.3_Missense_Mutation_p.L176V|ATXN3_uc021rzp.1_Missense_Mutation_p.L93V|ATXN3_uc021rzz.1_Non-coding_Transcript|ATXN3_uc021saa.1_Non-coding_Transcript|ATXN3_uc021sab.1_Missense_Mutation_p.L191V|ATXN3_uc021sac.1_Non-coding_Transcript|ATXN3_uc021sad.1_Non-coding_Transcript|ATXN3_uc021sae.1_Missense_Mutation_p.L190V|ATXN3_uc021saf.1_Missense_Mutation_p.L93V|ATXN3_uc021sag.1_Missense_Mutation_p.L85V|ATXN3_uc021sah.1_Missense_Mutation_p.L136V|ATXN3_uc021sai.1_Missense_Mutation_p.L93V|ATXN3_uc021saj.1_Non-coding_Transcript|ATXN3_uc021sak.1_Missense_Mutation_p.L140V|ATXN3_uc021sal.1_Missense_Mutation_p.L93V|ATXN3_uc021sam.1_Non-coding_Transcript|ATXN3_uc021san.1_Missense_Mutation_p.L139V|ATXN3_uc021sao.1_Missense_Mutation_p.L125V|ATXN3_uc021sap.1_Non-coding_Transcript|ATXN3_uc021saq.1_Non-coding_Transcript|ATXN3_uc021sar.1_Missense_Mutation_p.L33V|ATXN3_uc021sas.1_Non-coding_Transcript|ATXN3_uc021sat.1_Intron|ATXN3_uc021sau.1_Intron|ATXN3_uc021rzq.1_Non-coding_Transcript|ATXN3_uc021rzr.1_Non-coding_Transcript|ATXN3_uc021rzs.1_Non-coding_Transcript|ATXN3_uc021rzt.1_Non-coding_Transcript|ATXN3_uc021rzu.1_Non-coding_Transcript|ATXN3_uc021rzv.1_Missense_Mutation_p.L146V|ATXN3_uc021rzw.1_Non-coding_Transcript|ATXN3_uc021rzx.1_Non-coding_Transcript|ATXN3_uc021rzy.1_Non-coding_Transcript|ATXN3_uc021sav.1_Non-coding_Transcript	NM_004993	NP_004984	P54252	ATX3_HUMAN	Homo sapiens ataxin 3 (ATXN3), transcript variant reference, mRNA.	191					cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		TCTCCAATAAGTTTTGGTCGA	0.368000													5	26					0	0	1	0	0
TIAL1	7073	broad.mit.edu	37	10	121338280	121338280	+	Missense_Mutation	SNP	A	A	C			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr10:121338280A>C	uc001lei.1	-	6	1078	c.514T>G	c.(514-516)Tgg>Ggg	p.W172G	TIAL1_uc001leh.1_Missense_Mutation_p.W150G|TIAL1_uc001lej.1_Missense_Mutation_p.W189G|TIAL1_uc001lek.1_Missense_Mutation_p.W49G|TIAL1_uc010qtb.1_Missense_Mutation_p.W49G	NM_003252	NP_003243	Q01085	TIAR_HUMAN	Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein-like 1 (TIAL1), transcript variant 1, mRNA.	172	RRM 2.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CGAGTGGCCCAATTGGTTCGG	0.398000													26	104					0	0	1	0	0
KCNG1	3755	broad.mit.edu	37	20	49621336	49621336	+	Missense_Mutation	SNP	C	C	T			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr20:49621336C>T	uc002xwa.4	-	2	1077	c.782G>A	c.(781-783)tGt>tAt	p.C261Y		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	261						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CATCTGGGAACAGTGGCCCTG	0.652000													24	91					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180055903	180055903	+	Missense_Mutation	SNP	T	T	G			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr5:180055903T>G	uc003mlz.4	-	7	1161	c.1082A>C	c.(1081-1083)tAc>tCc	p.Y361S	FLT4_uc003mma.4_Missense_Mutation_p.Y361S|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.2_Missense_Mutation_p.Y361S|FLT4_uc011dgz.1_3'UTR	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	361	Ig-like C2-type 4.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGGCGGGGGGTACGCTGCCAG	0.632000													4	26					0	0	1	0	0
LHX9	56956	broad.mit.edu	37	1	197901207	197901207	+	RNA	DEL	A	A	-	rs139959391		TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr1:197901207delA	uc021pgw.1	+	1		c.362delA						Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 2, mRNA.						motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TTATTAAGCCAAAAAAAAAGA	0.313													2	4	---	---	---	---					
ARHGEF4	50649	broad.mit.edu	37	2	131801154	131801154	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr2:131801154delA	uc002tsa.1	+	10	2116	c.1597delA	c.(1597-1599)aagfs	p.K533fs	ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Frame_Shift_Del_p.K533fs|ARHGEF4_uc010fmx.1_Frame_Shift_Del_p.K473fs|ARHGEF4_uc002tsc.1_Frame_Shift_Del_p.K76fs	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.	533	PH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CTACTGTAAGAAGGTACCAGA	0.572													54	149	---	---	---	---					
MST1	4485	broad.mit.edu	37	3	49723112	49723112	+	Frame_Shift_Del	DEL	T	T	-	rs11288337		TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr3:49723112delT	uc003cxg.3	-	10	1376	c.1304delA	c.(1303-1305)aacfs	p.N435fs	MST1_uc011bcs.1_Frame_Shift_Del_p.T474fs	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	421	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCATCTGGGTTCCGGCAGAA	0.587													8	389	---	---	---	---					
DSPP	1834	broad.mit.edu	37	4	88536929	88536937	+	In_Frame_Del	DEL	AGCAGCGAT	AGCAGCGAT	-	rs140478071	by1000genomes	TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr4:88536929_88536937delAGCAGCGAT	uc003hqu.3	+	4	3235_3243	c.3115_3123delAGCAGCGAT	c.(3115-3123)agcagcgatdel	p.SSD1051del		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	1051	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		tagcagtgacagcagcgatagcagtgaca	0.522													31	155	---	---	---	---					
FAT4	79633	broad.mit.edu	37	4	126408614	126408614	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr4:126408614delA	uc003ifj.4	+	15	12931	c.12931delA	c.(12931-12933)aaafs	p.K4311fs	FAT4_uc011cgp.2_Frame_Shift_Del_p.K2552fs|FAT4_uc003ifi.1_Frame_Shift_Del_p.K1789fs	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4311	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTAATTGGGAAAAATGGAAC	0.403													15	50	---	---	---	---					
CTNNA1	1495	broad.mit.edu	37	5	138118896	138118897	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr5:138118896_138118897delGG	uc003ldh.3	+	2	231_232	c.136_137delGG	c.(136-138)gggfs	p.G46fs	CTNNA1_uc011cyx.2_Intron|CTNNA1_uc011cyy.2_5'UTR|CTNNA1_uc003ldi.3_5'UTR|CTNNA1_uc003ldj.3_Frame_Shift_Del_p.G46fs	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	46	Involved in homodimerization.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAATAGTAAAGGGCCCTCTAAT	0.356													18	86	---	---	---	---					
ATXN1	6310	broad.mit.edu	37	6	16327907	16327909	+	In_Frame_Del	DEL	TGA	TGA	-	rs59310777	by1000genomes	TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr6:16327907_16327909delTGA	uc003nbt.3	-	7	1604_1606	c.633_635delTCA	c.(631-636)catcag>cag	p.H211del	ATXN1_uc010jpi.3_In_Frame_Del_p.H211del|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	211	Poly-Gln.			H -> HQ (in Ref. 1; CAA55793).	RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association	p.H209_H211delHQH(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ctgctgctgctgatgctgatgct	0.670													3	5	---	---	---	---					
TBP	6908	broad.mit.edu	37	6	170871038	170871040	+	In_Frame_Del	DEL	CAA	CAA	-	rs10592950		TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr6:170871038_170871040delCAA	uc003qxu.3	+	2	493_495	c.214_216delCAA	c.(214-216)caadel	p.Q95del	TBP_uc011ehf.2_In_Frame_Del_p.Q75del|TBP_uc003qxt.3_In_Frame_Del_p.Q95del|TBP_uc011ehg.1_In_Frame_Del_p.Q95del	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	95	Poly-Gln.		Missing.		cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q72del(3)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		gcagcagcagcaacagcaacagc	0.567													13	46	---	---	---	---					
AEBP1	165	broad.mit.edu	37	7	44150535	44150535	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr7:44150535delG	uc003tkb.3	+	12	1814	c.1509delG	c.(1507-1509)aagfs	p.K503fs	AEBP1_uc003tkc.4_Frame_Shift_Del_p.K46fs|AEBP1_uc003tkd.3_5'Flank	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	503	F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for DNA-binding and interaction with NFKBIA (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						ACGTGGACAAGGACACACCCG	0.627													29	75	---	---	---	---					
TG	7038	broad.mit.edu	37	8	133899726	133899727	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr8:133899726_133899727insTA	uc003ytw.3	+	8	2150_2151	c.2109_2110insTA	c.(2107-2112)tgctacfs	p.C703fs		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	703	Thyroglobulin type-1 6.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACTCAGAGTGCTACTGTGTTGA	0.515													92	409	---	---	---	---					
MLH3	27030	broad.mit.edu	37	14	75516201	75516205	+	Frame_Shift_Del	DEL	TGAAC	TGAAC	-			TCGA-HE-A5NF-01A-11D-A26P-10	TCGA-HE-A5NF-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c14407ad-670e-4d1e-9417-2b76f4810fff	fcfc53c2-52b3-44d1-ae32-76375e3a0836	g.chr14:75516201_75516205delTGAAC	uc001xrd.1	-	1	370_374	c.154_158delGTTCA	c.(154-159)gttcaafs	p.V52fs	MLH3_uc001xre.1_Frame_Shift_Del_p.V52fs|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	52					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GTCTATCACTTGAACTTGGAAGGTT	0.444								Mismatch excision repair (MMR)					27	147	---	---	---	---					
