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
DNAH14	127602	broad.mit.edu	37	1	225546329	225546329	+	Silent	SNP	T	T	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr1:225546329T>C	uc001how.2	+	71	11687	c.11472T>C	c.(11470-11472)acT>acC	p.T3824T	DNAH14_uc001hox.2_Non-coding_Transcript	NM_001373	NP_001364	Q0VDD8	DYH14_HUMAN	Homo sapiens dynein, axonemal, heavy chain 14 (DNAH14), transcript variant 1, mRNA.	3060					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						ATGCCAGAACTCCGCTGATAC	0.348000													25	28					0	0	1	0	0
PLK4	10733	broad.mit.edu	37	4	128813596	128813596	+	Silent	SNP	T	T	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr4:128813596T>C	uc003ifo.3	+	9	2389	c.2115T>C	c.(2113-2115)taT>taC	p.Y705Y	PLK4_uc011cgs.2_Silent_p.Y673Y|PLK4_uc011cgt.2_Silent_p.Y664Y	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	705					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AAATCACTTATTTTACAAGAT	0.313000													23	57					0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100811853	100811853	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr12:100811853T>G	uc010svi.2	+	10	1657	c.1344T>G	c.(1342-1344)atT>atG	p.I448M	SLC17A8_uc009ztx.3_Missense_Mutation_p.I398M	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	448					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ATGCCAGCATTCTCATGGGGA	0.478000													58	26					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17086849	17086849	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr19:17086849T>C	uc002nfb.3	-	15	2044	c.2012A>G	c.(2011-2013)tAc>tGc	p.Y671C		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	624	Poly-Arg.	Cleavage; by furin-like protease (Probable).				extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCTGAGCAGGTAGACACTCTT	0.597000													3	108					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57566959	57566959	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr12:57566959C>A	uc001snd.3	+	20	3638	c.3172C>A	c.(3172-3174)Ccc>Acc	p.P1058T		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1058					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.P1058T(6)|p.R1057R(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGCCACGAGGCCCCCTGGTGG	0.672000											OREG0021936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	31					0.00024832	0.000264565	1	1	0
TRIM71	131405	broad.mit.edu	37	3	32932124	32932124	+	Silent	SNP	C	C	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr3:32932124C>T	uc003cff.3	+	3	1491	c.1428C>T	c.(1426-1428)ggC>ggT	p.G476G		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	476					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGTCTTTTGGCTTTGTTAGCA	0.597000													3	88					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121881832	121881832	+	Silent	SNP	G	G	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr12:121881832G>A	uc001uat.3	-	15	2538	c.2434C>T	c.(2434-2436)Ctg>Ttg	p.L812L	KDM2B_uc010szy.2_Silent_p.L252L|KDM2B_uc001uaq.3_Silent_p.L252L|KDM2B_uc001uar.3_Silent_p.L403L|KDM2B_uc001uas.3_Silent_p.L781L|KDM2B_uc021rfd.1_Silent_p.L781L|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Silent_p.L812L|KDM2B_uc001uao.3_Silent_p.L60L|KDM2B_uc010szx.2_Silent_p.L60L|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	812					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CGTCCACTCAGCTCCTGGGGC	0.647000											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	29					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121881833	121881833	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr12:121881833C>A	uc001uat.3	-	15	2537	c.2433G>T	c.(2431-2433)gaG>gaT	p.E811D	KDM2B_uc010szy.2_Missense_Mutation_p.E251D|KDM2B_uc001uaq.3_Missense_Mutation_p.E251D|KDM2B_uc001uar.3_Missense_Mutation_p.E402D|KDM2B_uc001uas.3_Missense_Mutation_p.E780D|KDM2B_uc021rfd.1_Missense_Mutation_p.E780D|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.E811D|KDM2B_uc001uao.3_Missense_Mutation_p.E59D|KDM2B_uc010szx.2_Missense_Mutation_p.E59D|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	811					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GTCCACTCAGCTCCTGGGGCT	0.647000											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	30					0.000978159	0.00101373	1	1	0
TNFRSF21	27242	broad.mit.edu	37	6	47254097	47254097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr6:47254097G>A	uc003oyv.3	-	1	764	c.331C>T	c.(331-333)Cag>Tag	p.Q111*		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	111					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GGGCATGGCTGACTACAGTCA	0.522000													51	65					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42166194	42166194	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr15:42166194A>C	uc001zos.3	-	24	4967	c.4634T>G	c.(4633-4635)cTg>cGg	p.L1545R		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1580					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCCAGAACTCAGCACCCGTTG	0.652000													6	14					0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74468065	74468065	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr15:74468065G>T	uc002axg.1	+	1	1148	c.866G>T	c.(865-867)gGg>gTg	p.G289V	ISLR_uc002axh.1_Missense_Mutation_p.G289V|ISLR_uc021sqf.1_Missense_Mutation_p.G289V	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	289	Ig-like.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GGCACTGATGGGCGTGCCCTG	0.637000													56	42					8.77104e-35	1.05253e-34	1	1	0
GALNS	2588	broad.mit.edu	37	16	88889080	88889080	+	Silent	SNP	G	G	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr16:88889080G>A	uc010cid.3	-	12	1540	c.1299C>T	c.(1297-1299)gtC>gtT	p.V433V	GALNS_uc002fly.4_Silent_p.V427V|GALNS_uc002flz.4_Silent_p.V110V			P34059	GALNS_HUMAN	Homo sapiens galactosamine (N-acetyl)-6-sulfate sulfatase (GALNS), mRNA.	427						lysosome	N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity|metal ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	TGTGAGTTGTGACCCCTGAAA	0.622000													55	133					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18058522	18058522	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr17:18058522C>T	uc021trm.1	+	44	8542	c.8323C>T	c.(8323-8325)Cgc>Tgc	p.R2775C	MYO15A_uc021trl.1_Missense_Mutation_p.R2773C|MYO15A_uc010vxi.2_Missense_Mutation_p.R39C|MYO15A_uc010vxj.1_5'UTR|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2775	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTACTTCTCCCGCATCTTCCC	0.607000													10	75					0	0	1	0	0
LOC388242	388242	broad.mit.edu	37	16	30217465	30217465	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr16:30217465T>C	uc002dxl.3	-	1	695	c.355A>G	c.(355-357)Agc>Ggc	p.S119G						Homo sapiens coiled-coil domain containing 101 pseudogene (LOC388242), non-coding RNA.																		CGTGCACGGCTTCCCATCCGC	0.697000													6	17					0	0	1	0	0
SHROOM1	134549	broad.mit.edu	37	5	132160935	132160935	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr5:132160935G>T	uc003kxx.3	-	3	1703	c.898C>A	c.(898-900)Ccc>Acc	p.P300T	SHROOM1_uc003kxy.2_Missense_Mutation_p.P300T	NM_001172700	NP_001166171	Q2M3G4	SHRM1_HUMAN	Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.	300					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGACTGGCGGGCCTGAAGGCA	0.592000													6	61					1.26484e-09	1.44192e-09	1	1	0
HFM1	164045	broad.mit.edu	37	1	91742587	91742587	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr1:91742587C>G	uc001doa.4	-	30	3523	c.3424G>C	c.(3424-3426)Gaa>Caa	p.E1142Q	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Missense_Mutation_p.E821Q|HFM1_uc001dob.4_Missense_Mutation_p.E330Q|HFM1_uc010osv.1_Missense_Mutation_p.E826Q	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	1142							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TGATTGCATTCTCGGTTCCCA	0.289000													21	39					0	0	1	0	0
GREB1L	80000	broad.mit.edu	37	18	19020247	19020247	+	Missense_Mutation	SNP	G	G	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr18:19020247G>C	uc010xam.2	+	8	1238	c.967G>C	c.(967-969)Ggg>Cgg	p.G323R	GREB1L_uc002ktf.1_Missense_Mutation_p.G323R|GREB1L_uc010dlp.1_Missense_Mutation_p.G323R	NM_001142966	NP_001136438	Q9C091	GRB1L_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer-like (GREB1L), mRNA.	323						integral to membrane				breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						GTTCATTTCTGGGCCACCAAA	0.458000													18	31					0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133331389	133331389	+	Silent	SNP	C	C	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr3:133331389C>T	uc003eps.3	-	23	4011	c.3879G>A	c.(3877-3879)ttG>ttA	p.L1293L		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	1293	BRCT 7.				DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTTCTATCACCAATCCACCTT	0.383000								Other conserved DNA damage response genes					17	23					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229085	39229085	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr3:39229085T>A	uc003cjk.2	-	1	2081	c.1852A>T	c.(1852-1854)Aca>Tca	p.T618S	XIRP1_uc003cji.3_Missense_Mutation_p.T618S|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.T618S	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	618	Interaction with CTNNB1 (By similarity).						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCCTTGGCTGTGGGATCTGTG	0.607000													3	41					0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138656258	138656258	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr6:138656258G>A	uc003qhu.3	+	32	6446	c.6275G>A	c.(6274-6276)aGg>aAg	p.R2092K		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	2092					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGGACAAGAGGCCCCGCTCA	0.647000													7	10					0	0	1	0	0
FAM13B	51306	broad.mit.edu	37	5	137289150	137289150	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr5:137289150G>A	uc003lbz.2	-	14	2191	c.1657C>T	c.(1657-1659)Cga>Tga	p.R553*	FAM13B_uc003lcb.2_Nonsense_Mutation_p.R457*|FAM13B_uc003lca.2_Nonsense_Mutation_p.R553*	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA.	553					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						GATGATCTTCGAATTCTGAAT	0.353000													3	58					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77714983	77714983	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr13:77714983T>C	uc021rks.1	-	49	7666	c.7399A>G	c.(7399-7401)Aag>Gag	p.K2467E	MYCBP2_uc010aev.3_Missense_Mutation_p.K1833E	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	2429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCCCTAACCTTATTAGGCTGA	0.403000													3	69					0	0	1	0	0
P4HB	5034	broad.mit.edu	37	17	79813349	79813349	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr17:79813349C>A	uc002kbn.1	-	2	663	c.466G>T	c.(466-468)Gct>Tct	p.A156S	P4HB_uc002kbm.1_5'UTR	NM_000918	NP_000909	P07237	PDIA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA.	156					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum lumen|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CCGATGACAGCCACCTCGCTG	0.602000													4	73					0.184627	0.184627	1	1	0
EPAS1	2034	broad.mit.edu	37	2	46608860	46608860	+	Splice_Site	SNP	G	G	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr2:46608860G>A	uc002ruv.3	+	13	2682	c.2172_splice	c.e13+1	p.G724_splice	EPAS1_uc002ruw.3_Splice_Site_p.G190_splice	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	724					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GACCTGAGCGGGGTGAGTCAT	0.622000													76	95					0	0	1	0	0
LRRC25	126364	broad.mit.edu	37	19	18507658	18507658	+	Missense_Mutation	SNP	C	C	G			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr19:18507658C>G	uc002niw.3	-	0	758	c.116G>C	c.(115-117)aGt>aCt	p.S39T	LRRC25_uc002nix.3_Missense_Mutation_p.S39T	NM_145256	NP_660299	Q8N386	LRC25_HUMAN	Homo sapiens leucine rich repeat containing 25 (LRRC25), mRNA.	39						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GCACGTGGCACTGAACTCCGC	0.622000													62	89					0	0	1	0	0
PI4K2A	55361	broad.mit.edu	37	10	99358955	99358955	+	Silent	SNP	C	C	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr10:99358955C>T	uc001kny.3	+	2	809	c.450C>T	c.(448-450)ctC>ctT	p.L150L	PI4K2A_uc001knx.2_Silent_p.L150L|PI4K2A_uc001knz.3_Intron|PI4K2A_uc010qoy.1_Intron	NM_138413	NP_612422	Q9BTU6	P4K2A_HUMAN	Homo sapiens 4-hydroxy-2-oxoglutarate aldolase 1 (HOGA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		GTGCGGCCCTCATTCACCACT	0.612000													25	41					0	0	1	0	0
APPL2	55198	broad.mit.edu	37	12	105629785	105629785	+	Silent	SNP	G	G	A	rs139867855	by1000genomes	TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr12:105629785G>A	uc010swu.1	-	0	224	c.6C>T	c.(4-6)ccC>ccT	p.P2P	APPL2_uc010swt.2_5'Flank|APPL2_uc001tlf.1_Silent_p.P2P|APPL2_uc001tlg.1_5'UTR|APPL2_uc009zuq.3_5'Flank	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.	2	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGTCCACGGCGGGCATGGTGC	0.736000													3	87					0	0	1	0	0
DOHH	83475	broad.mit.edu	37	19	3496745	3496745	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr19:3496745G>T	uc002lxs.3	-	1	231	c.68C>A	c.(67-69)gCc>gAc	p.A23D	DOHH_uc010xhl.2_Missense_Mutation_p.A23D	NM_031304	NP_112594	Q9BU89	DOHH_HUMAN	Homo sapiens deoxyhypusine hydroxylase/monooxygenase (DOHH), transcript variant 2, mRNA.	23					peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGAAGCGGGCCTGCAGGGG	0.672000													5	61					5.9392e-07	6.57348e-07	1	1	0
CLEC18B	497190	broad.mit.edu	37	16	74444869	74444869	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr16:74444869G>T	uc002fct.3	-	8	1248	c.1048C>A	c.(1048-1050)Ctg>Atg	p.L350M	CLEC18B_uc002fcu.3_Missense_Mutation_p.L350M|CLEC18B_uc010vmu.1_3'UTR	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	Homo sapiens C-type lectin domain family 18, member B (CLEC18B), mRNA.	350	C-type lectin.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGGCGGCCCAGATAGAAGGCG	0.587000													61	215					1.71345e-61	2.07801e-61	1	1	0
HTR6	3362	broad.mit.edu	37	1	20005583	20005583	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr1:20005583G>T	uc001bcl.3	+	2	1512	c.1045G>T	c.(1045-1047)Gcc>Tcc	p.A349S		NM_000871	NP_000862	P50406	5HT6R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 6 (HTR6), mRNA.	349					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	GGCCAGCCTGGCCTCGCCATC	0.687000													10	54					9.70103e-10	1.11709e-09	1	1	0
VPS13C	54832	broad.mit.edu	37	15	62207846	62207846	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr15:62207846A>T	uc002agz.3	-	60	8522	c.8431T>A	c.(8431-8433)Ttt>Att	p.F2811I	VPS13C_uc002aha.3_Missense_Mutation_p.F2768I|VPS13C_uc002ahb.2_Missense_Mutation_p.F2811I|VPS13C_uc002ahc.2_Missense_Mutation_p.F2768I|VPS13C_uc002ahd.1_Missense_Mutation_p.F188I	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2811					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTTTAGTAAAAATGTTCTTC	0.338000													3	22					0	0	1	0	0
SERPINB8	5271	broad.mit.edu	37	18	61654493	61654493	+	Missense_Mutation	SNP	G	G	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr18:61654493G>T	uc002ljv.3	+	6	1275	c.1106G>T	c.(1105-1107)gGc>gTc	p.G369V	SERPINB8_uc002lju.3_Missense_Mutation_p.G369V|SERPINB8_uc010xex.2_Missense_Mutation_p.G187V	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	369					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				TTGTTCTGTGGCAGGTTCTCT	0.468000													5	53					0.0293803	0.0301744	1	1	0
DHX57	90957	broad.mit.edu	37	2	39088916	39088916	+	Silent	SNP	T	T	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr2:39088916T>C	uc002rrf.3	-	4	735	c.636A>G	c.(634-636)gcA>gcG	p.A212A	DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Silent_p.A212A	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	212	UBA.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GCTCTAGTGATGCTCCCACAT	0.448000													53	42					0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220473931	220473931	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr2:220473931T>C	uc002vml.3	+	15	1998	c.1955T>C	c.(1954-1956)gTc>gCc	p.V652A	STK11IP_uc010zll.2_Missense_Mutation_p.V609A|STK11IP_uc002vmm.1_Missense_Mutation_p.V641A	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	652					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACGCAGCTGTCCAGGTGATG	0.662000													29	48					0	0	1	0	0
RBM14	10432	broad.mit.edu	37	11	66407706	66407706	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr11:66407706T>C	uc001oiv.3	+	1	672	c.524T>C	c.(523-525)aTg>aCg	p.M175T	RBM14_uc009yrj.3_Intron|RBM14_uc009yrk.3_Intron|RBM14_uc021qmb.1_Intron|RBM14_uc001oiw.2_Intron|RBM14_uc001oix.2_Intron|RBM14_uc010rpj.2_Intron|RBM14_uc001oiz.2_Intron	NM_001198843	NP_001185772	Q96PK6	RBM14_HUMAN	Homo sapiens RNA binding motif protein 4 (RBM4), transcript variant 2, mRNA.	0					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	RNA binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						TGGCTGGTGATGAAGAAATAA	0.453000													4	12					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31685559	31685559	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr20:31685559A>T	uc010zue.2	+	10	1550	c.1535A>T	c.(1534-1536)aAa>aTa	p.K512I		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	512						cytoplasm|extracellular region	lipid binding										TCCCAGCCCAAAGACCTGGAG	0.577000													68	74					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65253201	65253201	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr14:65253201C>T	uc001xht.3	-	14	3533	c.3482G>A	c.(3481-3483)aGc>aAc	p.S1161N	SPTB_uc001xhr.3_Missense_Mutation_p.S1161N|SPTB_uc001xhs.3_Missense_Mutation_p.S1161N|SPTB_uc001xhu.3_Missense_Mutation_p.S1161N	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1161					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GAGGGTGTGGCTGCGGCTCTC	0.612000													23	43					0	0	1	0	0
AATF	26574	broad.mit.edu	37	17	35345926	35345926	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr17:35345926G>A	uc002hni.3	+	5	1307	c.1056G>A	c.(1054-1056)atG>atA	p.M352I		NM_012138	NP_036270	Q9NY61	AATF_HUMAN	Homo sapiens apoptosis antagonizing transcription factor (AATF), mRNA.	352	RB1 binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				CCAGCTTCATGGCAAAGCGCT	0.493000													69	59					0	0	1	0	0
VASN	114990	broad.mit.edu	37	16	4432543	4432543	+	Silent	SNP	A	A	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr16:4432543A>C	uc021tch.1	+	0	1665	c.1665A>C	c.(1663-1665)acA>acC	p.T555T	CORO7-PAM16_uc002cwe.3_Intron|CORO7-PAM16_uc002cwf.3_Intron|CORO7-PAM16_uc002cwg.4_Intron|CORO7-PAM16_uc002cwh.4_Intron|CORO7-PAM16_uc010uxh.2_Intron|CORO7-PAM16_uc010uxi.2_Intron|CORO7-PAM16_uc002cwi.1_Intron|CORO7-PAM16_uc010uxj.1_Intron|CORO7-PAM16_uc010btp.1_Intron|VASN_uc002cwj.1_Silent_p.T555T	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN	Homo sapiens vasorin (VASN), mRNA.	555	Fibronectin type-III.					extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						AGGCCCATACACCCCCAGCCG	0.731000													6	69					0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12541862	12541862	+	Missense_Mutation	SNP	T	T	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr19:12541862T>C	uc002mtu.3	-	3	1322	c.1124A>G	c.(1123-1125)gAt>gGt	p.D375G		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	375					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						ACTAGGACAATCAAAGCCTTT	0.423000													30	73					0	0	1	0	0
PEBP1	5037	broad.mit.edu	37	12	118575948	118575948	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr12:118575948A>C	uc001twu.1	+	1	385	c.240A>C	c.(238-240)aaA>aaC	p.K80N	PEBP1_uc010szc.1_Missense_Mutation_p.K80N	NM_002567	NP_002558	P30086	PEBP1_HUMAN	Homo sapiens phosphatidylethanolamine binding protein 1 (PEBP1), mRNA.	80							ATP binding|phosphatidylethanolamine binding|serine-type endopeptidase inhibitor activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGATCCCAAATACAGGTGAG	0.517000													19	39					0	0	1	0	0
CEP85L	387119	broad.mit.edu	37	6	118790282	118790282	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr6:118790282C>T	uc003pya.2	-	12	2283	c.2216G>A	c.(2215-2217)cGt>cAt	p.R739H	CEP85L_uc003pxz.2_Missense_Mutation_p.R736H	NM_001178035	NP_001171506	Q5SZL2	CF204_HUMAN	Homo sapiens centrosomal protein 85kDa-like (CEP85L), transcript variant 3, mRNA.	736						centrosome											GCCCTGAGCACGCTGATTAAG	0.378000													19	68					0	0	1	0	0
RAB5B	5869	broad.mit.edu	37	12	56384574	56384574	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr12:56384574A>G	uc001siv.3	+	3	604	c.424A>G	c.(424-426)Atg>Gtg	p.M142V	RAB5B_uc001siw.3_Missense_Mutation_p.M142V|RAB5B_uc010spz.2_Intron|RAB5B_uc009zog.3_Missense_Mutation_p.M82V	NM_001252036	NP_001238965	P61020	RAB5B_HUMAN	Homo sapiens RAB5B, member RAS oncogene family (RAB5B), transcript variant 2, mRNA.	142					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			CAACAAACGTATGGTGGAGTA	0.522000													63	45					0	0	1	0	0
SCPEP1	59342	broad.mit.edu	37	17	55058480	55058480	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr17:55058480A>C	uc002iuv.4	+	1	167	c.114A>C	c.(112-114)gaA>gaC	p.E38D	SCPEP1_uc010dcl.3_Non-coding_Transcript|SCPEP1_uc010wnk.2_5'UTR	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	Homo sapiens serine carboxypeptidase 1 (SCPEP1), mRNA.	38					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					AGGGCAAGGAAGTATGGGATT	0.493000													125	149					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119003520	119003520	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr10:119003520G>T	uc001ldd.2	+	2	323	c.160G>T	c.(160-162)Gag>Tag	p.E54*	SLC18A2_uc009xyy.2_5'UTR	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	54					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CATTAAGCATGAGAAGAATGC	0.478000													25	30					7.41945e-09	8.37443e-09	1	1	0
CLDN16	10686	broad.mit.edu	37	3	190126252	190126252	+	Missense_Mutation	SNP	T	T	G	rs143316426	byFrequency	TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr3:190126252T>G	uc003fsi.3	+	3	990	c.742T>G	c.(742-744)Ttg>Gtg	p.L248V	CLDN16_uc010hze.3_Intron	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	Homo sapiens claudin 16 (CLDN16), mRNA.	248					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	p.L248F(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GGGTTGCTTTTTGGCTGGAGC	0.393000													35	33					0	0	1	0	0
RHEBL1	121268	broad.mit.edu	37	12	49460045	49460045	+	Missense_Mutation	SNP	C	C	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr12:49460045C>A	uc001rtc.1	-	5	556	c.349G>T	c.(349-351)Gtg>Ttg	p.V117L	RHEBL1_uc001rtd.1_Missense_Mutation_p.V113L|RHEBL1_uc009zlc.1_Non-coding_Transcript	NM_144593	NP_653194	Q8TAI7	REBL1_HUMAN	Homo sapiens Ras homolog enriched in brain like 1 (RHEBL1), mRNA.	117					TOR signaling cascade|positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding			breast(2)|large_intestine(2)|lung(5)	9						TTGTTCCCCACTAGAACCACT	0.498000													55	37					2.3441e-25	2.78362e-25	1	1	0
MLL2	8085	broad.mit.edu	37	12	49432161	49432161	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr12:49432161A>C	uc001rta.4	-	33	8978	c.8978T>G	c.(8977-8979)cTg>cGg	p.L2993R		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2993					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ATCGTCATCCAGCTCGGGATC	0.597000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			36	103					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183217515	183217515	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr3:183217515A>C	uc003flr.3	-	3	1068	c.1010T>G	c.(1009-1011)gTg>gGg	p.V337G	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Intron	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	337										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CAGGCAGGTCACCTCTGCCAC	0.567000													4	51					0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205308913	205308913	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr1:205308913C>T	uc001hcf.1	-	2	968	c.400G>A	c.(400-402)Ggg>Agg	p.G134R	KLHDC8A_uc010prg.1_Missense_Mutation_p.G21R|KLHDC8A_uc001hcg.1_Missense_Mutation_p.G134R	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA.	134										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGGCCCATCCCGCCTGCCGCA	0.557000													49	18					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234102516	234102516	+	Silent	SNP	G	G	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr2:234102516G>T	uc010zmo.2	+	21	2571	c.2418G>T	c.(2416-2418)acG>acT	p.T806T	INPP5D_uc010zmp.2_Silent_p.T805T	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	835					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCATCTACACGCCTCTCACCC	0.597000													3	58					0.184627	0.184627	1	1	0
ITGB5	3693	broad.mit.edu	37	3	124515325	124515325	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr3:124515325A>T	uc003eho.3	-	9	1900	c.1603T>A	c.(1603-1605)Tgc>Agc	p.C535S	ITGB5_uc010hrx.3_Non-coding_Transcript	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	535	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CTCTCGAAGCAGGAGCACTGG	0.597000													24	42					0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524220	26524220	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr1:26524220T>A	uc010oez.2	+	3	503	c.503T>A	c.(502-504)cTc>cAc	p.L168H	CATSPER4_uc010oey.1_Intron|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	168					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		TTTATCTTGCTCTTGCGGTTC	0.542000													20	40					0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183885769	183885769	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr1:183885769T>G	uc001gqm.3	+	16	2504	c.2043T>G	c.(2041-2043)aaT>aaG	p.N681K	RGL1_uc010pog.2_Missense_Mutation_p.N644K|RGL1_uc010poh.2_Missense_Mutation_p.N644K|RGL1_uc001gqo.3_Missense_Mutation_p.N646K|RGL1_uc010poi.2_Missense_Mutation_p.N617K	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	646	Ras-associating.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						ACCAACAGAATGAAGACACCT	0.527000													34	40					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109702126	109702126	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr12:109702126G>A	uc001tob.3	+	49	6996	c.6877G>A	c.(6877-6879)Gtg>Atg	p.V2293M	ACACB_uc001toc.3_Missense_Mutation_p.V2293M|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.V959M	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	2293	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CTACCACCAGGTGGCGGTGCA	0.622000											OREG0022102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	34					0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176300996	176300996	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr5:176300996T>G	uc003mey.3	+	6	1106	c.914T>G	c.(913-915)cTc>cGc	p.L305R	UNC5A_uc010jkg.1_Missense_Mutation_p.L265R	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	305					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane		p.L305I(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACGTGGCCCTCTATGTGGGC	0.627000													51	38					0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114925620	114925620	+	Silent	SNP	C	C	T	rs73362229	byFrequency	TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr10:114925620C>T	uc021pyi.1	+	14	2256	c.1749C>T	c.(1747-1749)gcC>gcT	p.A583A	TCF7L2_uc001lah.3_3'UTR|TCF7L2_uc010qro.2_3'UTR|TCF7L2_uc001lae.4_Silent_p.A566A|TCF7L2_uc010qrm.2_3'UTR|TCF7L2_uc010qrn.2_3'UTR|TCF7L2_uc021pyg.1_Silent_p.A299A|TCF7L2_uc021pyh.1_3'UTR|TCF7L2_uc021pyj.1_3'UTR|TCF7L2_uc021pyk.1_Silent_p.A548A|TCF7L2_uc021pyl.1_3'UTR|TCF7L2_uc010qrp.2_3'UTR|TCF7L2_uc021pym.1_3'UTR|TCF7L2_uc021pyn.1_Silent_p.A571A|TCF7L2_uc021pyo.1_3'UTR|TCF7L2_uc021pyp.1_3'UTR|TCF7L2_uc010qrq.2_3'UTR|TCF7L2_uc001lac.4_Silent_p.A560A|TCF7L2_uc010qrk.2_3'UTR|TCF7L2_uc001lad.4_3'UTR|TCF7L2_uc001lag.4_3'UTR|TCF7L2_uc001laf.4_Silent_p.A543A|TCF7L2_uc010qrl.2_Silent_p.A543A|TCF7L2_uc010qrr.2_Silent_p.A498A|TCF7L2_uc010qrs.2_Silent_p.A454A|TCF7L2_uc010qrt.2_Silent_p.A454A|TCF7L2_uc010qru.2_3'UTR|TCF7L2_uc010qrv.2_3'UTR|TCF7L2_uc010qrw.2_3'UTR|TCF7L2_uc010qrx.2_3'UTR	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	583					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TGCAGCCTGCCGCCCCCTCCT	0.687000			T	VTI1A	colorectal								4	57					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36446013	36446013	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr7:36446013A>C	uc003tff.3	+	3	915	c.711A>C	c.(709-711)aaA>aaC	p.K237N	ANLN_uc011kaz.2_Missense_Mutation_p.K149N|ANLN_uc003tfg.3_Missense_Mutation_p.K237N|ANLN_uc010kxe.3_Missense_Mutation_p.K237N	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	237	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GTTTATCCAAATTTTCCTCTG	0.428000													39	32					0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146696657	146696657	+	Splice_Site	SNP	T	T	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr1:146696657T>A	uc001epi.2	-	2	353	c.-36_splice	c.e2-1		FMO5_uc001eph.4_Splice_Site|FMO5_uc001epj.2_5'UTR|FMO5_uc001epk.4_5'UTR	NM_001461	NP_001452	P49326	FMO5_HUMAN	Homo sapiens flavin containing monooxygenase 5 (FMO5), transcript variant 1, mRNA.							integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GTGTCGCCTGTCCTAAAGAAA	0.458000													12	18					0	0	1	0	0
CERCAM	51148	broad.mit.edu	37	9	131186698	131186698	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr9:131186698C>T	uc004buz.4	+	4	969	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	CERCAM_uc004buy.1_Missense_Mutation_p.R113C|CERCAM_uc010mxz.3_Missense_Mutation_p.R113C|CERCAM_uc010mya.1_Missense_Mutation_p.R32C	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	Homo sapiens cerebral endothelial cell adhesion molecule (CERCAM), mRNA.	191					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GGGCTACTACCGCCGCACAGC	0.662000													3	37					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118219440	118219440	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chrX:118219440T>G	uc004era.4	-	11	4754	c.4754A>C	c.(4753-4755)aAg>aCg	p.K1585T		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1585										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ACTCTTCTGCTTCTGCTTTGC	0.448000													5	33					0	0	1	0	0
GPR97	222487	broad.mit.edu	37	16	57713092	57713092	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr16:57713092C>T	uc002emh.3	+	4	599	c.496C>T	c.(496-498)Ccc>Tcc	p.P166S	GPR97_uc010vhv.2_Missense_Mutation_p.P46S|GPR97_uc010cdd.3_Non-coding_Transcript|GPR97_uc010cde.3_5'Flank	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN	Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA.	166					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCACAGGGCCCCCGGCTCGG	0.632000													17	45					0	0	1	0	0
CPE	1363	broad.mit.edu	37	4	166300624	166300624	+	Missense_Mutation	SNP	A	A	C			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr4:166300624A>C	uc003irg.4	+	0	528	c.251A>C	c.(250-252)gAg>gCg	p.E84A		NM_001873	NP_001864	P16870	CBPE_HUMAN	Homo sapiens carboxypeptidase E (CPE), mRNA.	84					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGCAGCTTCGAGGGCCGGGAG	0.682000													65	42					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821093	72821093	+	Silent	SNP	G	G	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr16:72821093G>T	uc002fck.3	-	9	11755	c.11082C>A	c.(11080-11082)acC>acA	p.T3694T	AK021563_uc002fcj.1_Non-coding_Transcript|ZFHX3_uc002fcl.3_Silent_p.T2780T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3694					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTCCTACACTGGTCAGACCAC	0.463000													28	72					2.48696e-23	2.92282e-23	1	1	0
HK1	3098	broad.mit.edu	37	10	71128300	71128300	+	Silent	SNP	G	G	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr10:71128300G>A	uc001jpl.4	+	4	605	c.504G>A	c.(502-504)ctG>ctA	p.L168L	HK1_uc001jpg.4_Silent_p.L156L|HK1_uc001jph.4_Silent_p.L172L|HK1_uc001jpi.4_Silent_p.L172L|HK1_uc001jpj.4_Silent_p.L203L|HK1_uc001jpk.4_Silent_p.L167L|HK1_uc009xqd.3_Silent_p.L46L	NM_000188	NP_000179	P19367	HXK1_HUMAN	Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	168	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						AGGCCATCCTGATCACCTGGA	0.547000													49	74					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50985743	50985743	+	Silent	SNP	T	T	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr18:50985743T>A	uc002lfe.2	+	23	4150	c.3534T>A	c.(3532-3534)tcT>tcA	p.S1178S	DCC_uc010dpf.2_Silent_p.S813S	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1178					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAAGGGACTCTCCCATCCAAA	0.478000													18	16					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13928686	13928686	+	Missense_Mutation	SNP	A	A	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr19:13928686A>T	uc002mxh.1	+	7	1658	c.1469A>T	c.(1468-1470)aAg>aTg	p.K490M	ZSWIM4_uc010xng.1_Missense_Mutation_p.K413M	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	490							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GCCCAGGACAAGGTGGTGCGC	0.701000													4	95					0	0	1	0	0
SLC44A3	126969	broad.mit.edu	37	1	95330398	95330398	+	Silent	SNP	T	T	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr1:95330398T>A	uc001dqv.4	+	10	1445	c.1338T>A	c.(1336-1338)tcT>tcA	p.S446S	SLC44A3_uc001dqx.4_Silent_p.S446S|SLC44A3_uc010otq.2_Silent_p.S378S|SLC44A3_uc010otr.2_Silent_p.S410S|SLC44A3_uc001dqw.4_Silent_p.S398S|SLC44A3_uc010ots.2_Silent_p.S366S|SLC44A3_uc009wds.3_Silent_p.S349S|SLC44A3_uc010ott.2_Silent_p.S366S|SLC44A3_uc010otu.1_Non-coding_Transcript	NM_001114106	NP_689582	Q8N4M1	CTL3_HUMAN	Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	446						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TTTTAATCTCTGTGGTGAGGA	0.433000													14	37					0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19822257	19822257	+	Silent	SNP	T	T	G			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr19:19822257T>G	uc002nnk.1	-	3	1987	c.1833A>C	c.(1831-1833)ggA>ggC	p.G611G		NM_021030	NP_066358	P17017	ZNF14_HUMAN	Homo sapiens zinc finger protein 14 (ZNF14), mRNA.	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				AAGGTTTCTCTCCAGTGTGAG	0.408000													31	40					0	0	1	0	0
HIGD2A	192286	broad.mit.edu	37	5	175816407	175816407	+	Missense_Mutation	SNP	T	T	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr5:175816407T>A	uc003meg.3	+	1	267	c.230T>A	c.(229-231)cTc>cAc	p.L77H	NOP16_uc003mee.3_5'Flank|NOP16_uc003med.3_5'Flank|NOP16_uc011dfl.2_5'Flank|NOP16_uc011dfm.1_5'Flank	NM_138820	NP_620175	Q9BW72	HIG2A_HUMAN	Homo sapiens HIG1 hypoxia inducible domain family, member 2A (HIGD2A), mRNA.	77	HIG1.					integral to membrane				large_intestine(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		CGCTCTCAGCTCATGATGCGC	0.647000													32	82					0	0	1	0	0
SDHD	6392	broad.mit.edu	37	11	111958619	111958619	+	Missense_Mutation	SNP	A	A	G			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr11:111958619A>G	uc001pmz.3	+	1	152	c.91A>G	c.(91-93)Atc>Gtc	p.I31V	TIMM8B_uc001pmy.3_5'Flank|TIMM8B_uc001pmx.3_5'Flank	NM_003002	NP_002993	O14521	DHSD_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD), nuclear gene encoding mitochondrial protein, mRNA.	31					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II	electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Succinic acid(DB00139)	ACCTGCTCATATCTCAGCATT	0.473000			"""Mis, N, F, S"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome				22	26					0	0	1	0	0
C11orf46	120534	broad.mit.edu	37	11	30352522	30352522	+	Silent	SNP	C	C	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr11:30352522C>T	uc001mso.1	+	1	191	c.27C>T	c.(25-27)gtC>gtT	p.V9V		NM_152316	NP_689529	Q8N8R7	CK046_HUMAN	Homo sapiens chromosome 11 open reading frame 46 (C11orf46), mRNA.	9										cervix(1)|endometrium(1)|kidney(2)|lung(7)	11						CAGTTGGAGTCCAGCTTCGTA	0.378000													104	136					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40702398	40702398	+	Missense_Mutation	SNP	G	G	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr1:40702398G>A	uc001cfc.4	+	7	2055	c.2024G>A	c.(2023-2025)gGt>gAt	p.G675D	RLF_uc001cfd.4_Missense_Mutation_p.G366D	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	675					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CCATGTCCCGGTACAGACTGT	0.388000													14	22					0	0	1	0	0
MGC39584	441058	broad.mit.edu	37	GL000193.1	88252	88252	+	RNA	SNP	C	C	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chrGL000193.1:88252C>A	uc003izx.3	-	0		c.124G>T			MGC39584_uc003izy.3_5'Flank					Homo sapiens uncharacterized LOC441058 (MGC39584), non-coding RNA.																		tgctgcttcccccgtctccgc	0.622000													4	8					1.23904e-05	1.33255e-05	1	1	0
ASH2L	9070	broad.mit.edu	37	8	37978552	37978552	+	Silent	SNP	G	G	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr8:37978552G>A	uc003xkt.4	+	9	1108	c.1050G>A	c.(1048-1050)ccG>ccA	p.P350P	ASH2L_uc011lbk.2_Silent_p.P211P|ASH2L_uc003xku.4_Silent_p.P256P|ASH2L_uc010lwa.3_Silent_p.P256P	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	Homo sapiens ash2 (absent, small, or homeotic)-like (Drosophila) (ASH2L), transcript variant 1, mRNA.	350					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				AGCCTGATCCGCACGCCCCTG	0.522000											OREG0018719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	153					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178936708	178936708	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr2:178936708G>A	uc002ulq.3	-	0	775	c.457C>T	c.(457-459)Cga>Tga	p.R153*	PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	153					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.R153*(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GCCCTCCGTCGTACACTACTC	0.587000									Primary Pigmented Nodular Adrenocortical Disease, Familial				4	91					0	0	1	0	0
ECI2	10455	broad.mit.edu	37	6	4130664	4130664	+	Missense_Mutation	SNP	T	T	G			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr6:4130664T>G	uc003mwf.3	-	3	480	c.443A>C	c.(442-444)gAt>gCt	p.D148A	C6orf201_uc003mwa.4_Intron|C6orf201_uc003mvz.4_Intron|C6orf201_uc003mwb.4_Intron|ECI2_uc021yku.1_Missense_Mutation_p.D118A|ECI2_uc003mwc.3_5'UTR|ECI2_uc003mwd.3_Missense_Mutation_p.D118A|ECI2_uc003mwe.3_5'UTR|ECI2_uc010jnr.1_Non-coding_Transcript	NM_206836	NP_996667	O75521	ECI2_HUMAN	Homo sapiens enoyl-CoA delta isomerase 2 (ECI2), transcript variant 2, mRNA.	148					fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						TGTGATGCCATCTTCGGAGGT	0.458000													18	43					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155733245	155733245	+	Silent	SNP	C	C	T	rs117045670	by1000genomes	TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr1:155733245C>T	uc001flz.2	-	21	4681	c.4584G>A	c.(4582-4584)gaG>gaA	p.E1528E	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Silent_p.E1528E|GON4L_uc009wrh.1_Silent_p.E1528E|GON4L_uc001fma.1_Silent_p.E1528E|GON4L_uc001fmb.4_Silent_p.E724E	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	1528	Glu-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.E1528E(2)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					cttcttcttcctcctcttctt	0.488000													4	43					0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63983337	63983337	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr3:63983337C>T	uc021wzy.1	+	11	2812	c.2702C>T	c.(2701-2703)aCa>aTa	p.T901I	ATXN7_uc003dlw.4_Intron|ATXN7_uc011bfn.2_Intron	NM_001177387	NP_001170858	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7b, mRNA.	611					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		ATTTCAGCAACATCACCCCAG	0.428000													20	31					0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43571977	43571977	+	Silent	SNP	C	C	A			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr15:43571977C>A	uc001zrf.1	-	9	1529	c.1524G>T	c.(1522-1524)ctG>ctT	p.L508L		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	508					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.L508M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TACGCAGCAGCAGCTGCAGGT	0.657000													5	28					0.000602214	0.000629839	1	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79083052	79083052	+	Missense_Mutation	SNP	C	C	T			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr15:79083052C>T	uc002bej.4	-	5	1199	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	ADAMTS7_uc010und.1_Missense_Mutation_p.A330T|ADAMTS7_uc002bek.1_Missense_Mutation_p.A330T	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	330	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGGGGATGGGCATCCCCCTTC	0.597000													3	55					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945182	16945184	+	RNA	DEL	AAT	AAT	-	rs59197507		TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr1:16945182_16945184delAAT	uc010ocf.2	-	3		c.973_975delATT			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.																		TACTGATGAAAATAATAACAGAT	0.325													3	6	---	---	---	---					
DOCK3	1795	broad.mit.edu	37	3	51393580	51393580	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr3:51393580delG	uc011bds.2	+	41	4333	c.4310delG	c.(4309-4311)aggfs	p.R1437fs		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1437	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGATGGATAGGGTACCAGAT	0.493													65	135	---	---	---	---					
RECQL4	9401	broad.mit.edu	37	8	145738764	145738764	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr8:145738764delA	uc003zdj.3	-	14	2342	c.2300delT	c.(2299-2301)gtgfs	p.V767fs		NM_004260	NP_004251	O94761	RECQ4_HUMAN	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.	767	Helicase C-terminal.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|bubble DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGCCACCACCACCCGGCAACT	0.687			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				7	173	---	---	---	---					
KANSL2	54934	broad.mit.edu	37	12	49073468	49073468	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr12:49073468delT	uc001rrz.2	-	1	993	c.949delA	c.(949-951)agtfs	p.S317fs	KANSL2_uc001rrw.2_5'UTR|KANSL2_uc001rrx.2_Frame_Shift_Del_p.S134fs|KANSL2_uc001rry.2_Non-coding_Transcript	NM_017822	NP_060292	Q9H9L4	CL041_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 2 (KANSL2), mRNA.	134																	CTGCGACTACTTTCTGGAGTC	0.493													64	59	---	---	---	---					
TM9SF1	10548	broad.mit.edu	37	14	24661497	24661519	+	Frame_Shift_Del	DEL	CTGCTGAGTTAATGGCCCCATGA	CTGCTGAGTTAATGGCCCCATGA	-	rs150862560		TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr14:24661497_24661519delCTGCTGAGTTAATGGCCCCATGA	uc010tob.1	-	7	2350_2372	c.1716_1738delTCATGGGGCCATTAACTCAGCAG	c.(1714-1740)cgtcatggggccattaactcagcagccfs	p.R572fs	IPO4_uc001wmv.1_5'Flank|IPO4_uc001wmw.1_5'Flank|IPO4_uc010tnz.1_5'Flank|IPO4_uc001wmx.1_5'Flank|IPO4_uc001wmy.1_5'Flank|IPO4_uc001wmz.2_5'Flank|TM9SF1_uc001wnb.1_Frame_Shift_Del_p.R337fs|TM9SF1_uc010toa.1_Frame_Shift_Del_p.R250fs|TM9SF1_uc001wnc.3_Frame_Shift_Del_p.R337fs	NM_006405	NP_006396	O15321	TM9S1_HUMAN	Homo sapiens transmembrane 9 superfamily member 1 (TM9SF1), transcript variant 1, mRNA.	337					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		p.S343P(1)		NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		AACAAGATGGCTGCTGAGTTAATGGCCCCATGACGGTGCACAT	0.538													48	161	---	---	---	---					
C14orf23	387978	broad.mit.edu	37	14	29261305	29261305	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr14:29261305delA	uc001wqf.3	+	2	446	c.342delA	c.(340-342)ctafs	p.L114fs						Homo sapiens chromosome 14 open reading frame 23 (C14orf23), transcript variant 1, non-coding RNA.											central_nervous_system(1)	1						CTTCAGCACTAAAAAAAACAA	0.378													13	92	---	---	---	---					
ARID3A	1820	broad.mit.edu	37	19	971949	971950	+	In_Frame_Ins	INS	-	-	GCA	rs1051505	byFrequency	TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr19:971949_971950insGCA	uc002lql.3	+	8	1956_1957	c.1666_1667insGCA	c.(1666-1668)ggc>gGCAgc	p.559_560insS		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA.	559	Gly-rich.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		cggcggcggcggcagcagcagc	0.653													12	41	---	---	---	---					
LOC440518	440518	broad.mit.edu	37	19	22779215	22779215	+	RNA	DEL	G	G	-	rs113336402		TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr19:22779215delG	uc002nqu.4	+	0		c.157delG								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		CAGCAGCAAAGAAAAAGGTAC	0.612													4	2	---	---	---	---					
LIN37	55957	broad.mit.edu	37	19	36243734	36243734	+	Splice_Site	DEL	G	G	-			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr19:36243734delG	uc021usw.1	+	4	555	c.191_splice	c.e4+1	p.R64_splice	PSENEN_uc002obk.1_Splice_Site|AL137752_uc002obl.3_Non-coding_Transcript|LIN37_uc021usx.1_5'Flank	NM_019104	NP_061977	Q96GY3	LIN37_HUMAN	Homo sapiens lin-37 homolog (C. elegans) (LIN37), mRNA.	64							protein binding			large_intestine(1)|lung(5)	6	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACTGGCAAAAGGTAAGGTGGC	0.627													28	46	---	---	---	---					
AX747171	0	broad.mit.edu	37	20	23169142	23169144	+	RNA	DEL	TGT	TGT	-	rs11470440		TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr20:23169142_23169144delTGT	uc002wsw.1	+	0		c.545_547delTGT								Homo sapiens cDNA FLJ34446 fis, clone HLUNG2002050.																		gtgtttgtgatgttggtgtgttg	0.443													2	4	---	---	---	---					
COL18A1	80781	broad.mit.edu	37	21	46911183	46911183	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B9-A5W9-01A-11D-A28G-10	TCGA-B9-A5W9-10A-01D-A28G-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad4535df-a616-4440-8204-9a498d22beb5	869fc941-e464-4427-8385-d302bb618ea9	g.chr21:46911183delC	uc002zhi.3	+	20	2673	c.2652delC	c.(2650-2652)ggcfs	p.G884fs	COL18A1_uc002zhg.3_Frame_Shift_Del_p.G704fs	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1119	Nonhelical region 3 (NC3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCCTCCCTGGCCCCCCCGGAC	0.692													7	439	---	---	---	---					
