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
FAT3	120114	broad.mit.edu	37	11	92568131	92568131	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr11:92568131G>A	uc001pdj.4	+	13	9984	c.9967G>A	c.(9967-9969)Gct>Act	p.A3323T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3323	Cadherin 30.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.A3323T(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCTCTCAGCGCTGTGGCCAC	0.498000										TCGA Ovarian(4;0.039)			17	17					0	0	1	0	0
ATP6V1A	523	broad.mit.edu	37	3	113508598	113508598	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:113508598G>T	uc003eao.3	+	7	1007	c.899G>T	c.(898-900)gGt>gTt	p.G300V	ATP6V1A_uc011bik.2_Missense_Mutation_p.G267V	NM_001690	NP_001681	P38606	VATA_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA.	300					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.G300V(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGGTTGATGGTAAGGTAGAG	0.353000													51	103					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53045685	53045685	+	Silent	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr8:53045685G>A	uc003xqz.2	-	15	2532	c.2376C>T	c.(2374-2376)tgC>tgT	p.C792C	ST18_uc011ldq.1_Silent_p.C439C|ST18_uc011ldr.1_Silent_p.C757C|ST18_uc011lds.1_Silent_p.C697C|ST18_uc003xra.2_Silent_p.C792C	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	792						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C792C(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTGCACGAGGGCATCCGGACA	0.468000													4	233					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130159274	130159274	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:130159274A>T	uc010htj.1	+	34	6586	c.6092A>T	c.(6091-6093)gAt>gTt	p.D2031V	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.D70V|COL6A5_uc010htk.1_Missense_Mutation_p.D70V	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2031	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen		p.D2031V(2)|p.D70V(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ACAGAGTTTGATTTCATCACT	0.423000													45	100					0	0	1	0	0
NOMO2	283820	broad.mit.edu	37	16	18555076	18555076	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr16:18555076G>A	uc002dfe.3	-	6	670	c.598C>T	c.(598-600)Cgt>Tgt	p.R200C	NOMO2_uc002dff.3_Missense_Mutation_p.R200C|NOMO2_uc010bvx.3_Missense_Mutation_p.R33C	NM_001004060	NP_001004060	Q5JPE7	NOMO2_HUMAN	Homo sapiens NODAL modulator 2 (NOMO2), transcript variant 1, mRNA.	200						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	p.R200C(2)		endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						ttggttacacgcactgtggtg	0.463000													28	81					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43926838	43926838	+	Silent	SNP	C	C	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr20:43926838C>T	uc002xnn.2	-	6	1585	c.1398G>A	c.(1396-1398)tcG>tcA	p.S466S	MATN4_uc002xnp.2_Silent_p.S384S|MATN4_uc002xno.2_Silent_p.S425S|MATN4_uc010zwr.1_Silent_p.S414S|MATN4_uc002xnr.1_Silent_p.S466S	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	507	VWFA 2.					extracellular region	protein binding	p.S466S(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CTGCCCACACCGAGATGTCAT	0.672000													5	73					0	0	1	0	0
TXNIP	10628	broad.mit.edu	37	1	145440347	145440347	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:145440347G>T	uc001enn.4	+	4	994	c.653G>T	c.(652-654)cGc>cTc	p.R218L	TXNIP_uc010oys.2_Missense_Mutation_p.R163L	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.	218					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.R218L(2)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATTGTGGCCCGCCACACTTAC	0.478000													21	118					0	0	1	0	0
C14orf133	63894	broad.mit.edu	37	14	77896064	77896064	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr14:77896064C>T	uc001xtt.2	-	17	1643	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	C14orf133_uc001xtu.2_Missense_Mutation_p.R409Q|C14orf133_uc001xtv.2_Missense_Mutation_p.R409Q|C14orf133_uc021rwu.1_Missense_Mutation_p.R409Q|C14orf133_uc010tvj.2_Missense_Mutation_p.R360Q	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA.	409					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding	p.R409Q(1)						Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TTCGACAACCCGATGGAAGCC	0.502000													25	414					0	0	1	0	0
LHX5	64211	broad.mit.edu	37	12	113909233	113909233	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:113909233G>A	uc001tvj.1	-	0	645	c.71C>T	c.(70-72)gCg>gTg	p.A24V		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	Homo sapiens LIM homeobox 5 (LHX5), mRNA.	24	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A24V(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GATGTGCCACGCGCGGTCCAG	0.612000													3	16					0	0	1	0	0
CROT	54677	broad.mit.edu	37	7	86990868	86990868	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:86990868T>A	uc003uiu.3	+	5	732	c.487T>A	c.(487-489)Tac>Aac	p.Y163N	CROT_uc003uit.3_Missense_Mutation_p.Y135N	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	135					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	p.L162P(1)|p.Y135N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TAACTTGAACTACTGGCAGCT	0.398000													6	178					0	0	1	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627187	43627187	+	Silent	SNP	C	C	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr9:43627187C>T	uc011lrb.2	-	3	1529	c.1500G>A	c.(1498-1500)caG>caA	p.Q500Q		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	500						integral to membrane		p.Q500Q(2)		breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						GGAAAGAAGACTGAAGATGGG	0.547000													6	526					0	0	1	0	0
SRMS	6725	broad.mit.edu	37	20	62178595	62178595	+	Silent	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr20:62178595G>A	uc002yfi.1	-	0	263	c.222C>T	c.(220-222)cgC>cgT	p.R74R		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	74	SH3.						ATP binding|non-membrane spanning protein tyrosine kinase activity	p.R74R(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GCCTGTCCCCGCGGCGGACAC	0.701000													28	359					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976722	38976722	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr19:38976722C>A	uc002oit.3	+	33	5557	c.5427C>A	c.(5425-5427)gaC>gaA	p.D1809E	RYR1_uc002oiu.3_Missense_Mutation_p.D1809E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1809	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.D1809E(2)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCTGCGGGACAAGGCACTGA	0.711000													43	57					0	0	1	0	0
NBN	4683	broad.mit.edu	37	8	90955524	90955524	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr8:90955524C>A	uc003yej.1	-	13	2251	c.2141G>T	c.(2140-2142)cGa>cTa	p.R714L	NBN_uc011lgb.1_Missense_Mutation_p.R714L|NBN_uc003yei.1_Missense_Mutation_p.R632L	NM_002485	NP_002476	O60934	NBN_HUMAN	Homo sapiens nibrin (NBN), mRNA.	714					DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|cell cycle arrest|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	p.R714L(2)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGTATTCTTTCGAGCATGATG	0.398000								Homologous recombination					4	255					0	0	1	0	0
SRSF7	6432	broad.mit.edu	37	2	38976716	38976716	+	Missense_Mutation	SNP	T	T	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr2:38976716T>A	uc002rqz.3	-	2	579	c.341A>T	c.(340-342)cAt>cTt	p.H114L	SRSF7_uc010ynp.2_Missense_Mutation_p.H114L|SRSF7_uc002rra.3_Non-coding_Transcript|GEMIN6_uc002rrb.3_5'Flank	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN	Homo sapiens serine/arginine-rich splicing factor 7 (SRSF7), transcript variant 1, mRNA.	114					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding|zinc ion binding	p.H114L(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ATAAGCATAATGTCCCTTTTC	0.413000													27	279					0	0	1	0	0
TMED9	54732	broad.mit.edu	37	5	177022271	177022271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr5:177022271C>T	uc003mhx.3	+	4	565	c.562C>T	c.(562-564)Cga>Tga	p.R188*		NM_017510	NP_059980	Q9BVK6	TMED9_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 9 (TMED9), mRNA.	188					transport	ER-Golgi intermediate compartment|endoplasmic reticulum membrane|integral to membrane		p.R188*(2)		endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGCAGTGGCGAGAGGAGCG	0.602000													29	62					0	0	1	0	0
C20orf111	51526	broad.mit.edu	37	20	42826279	42826279	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr20:42826279T>C	uc002xlk.3	-	3	544	c.292A>G	c.(292-294)Ata>Gta	p.I98V		NM_016470	NP_057554	Q9NX31	CT111_HUMAN	Homo sapiens chromosome 20 open reading frame 111 (C20orf111), mRNA.	98								p.I98V(2)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	14		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GAAGACGCTATTGTACTGCAA	0.488000													21	159					0	0	1	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39421246	39421246	+	Silent	SNP	C	C	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr22:39421246C>T	uc003awt.4	+	2	789	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	APOBEC3D_uc021wpq.1_Silent_p.L128L|APOBEC3D_uc010gxu.3_Intron|APOBEC3D_uc003awu.4_Intron	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (APOBEC3D), mRNA.	128					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	p.L128L(3)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CAATGTCACCCTGACCATCTC	0.572000													7	103					0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27755320	27755320	+	Silent	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:27755320G>A	uc001bof.2	-	1	306	c.81C>T	c.(79-81)tgC>tgT	p.C27C	WASF2_uc010ofl.2_Silent_p.C27C	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	Homo sapiens WAS protein family, member 2 (WASF2), transcript variant 1, mRNA.	27					G-protein signaling, coupled to cAMP nucleotide second messenger|actin cytoskeleton organization	actin cytoskeleton|lamellipodium	actin binding	p.C27C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TGTTGGTCACGCATTCCAGCT	0.577000													4	140					0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629679	9629679	+	Silent	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr5:9629679G>A	uc003jem.1	-	0	785	c.466C>T	c.(466-468)Cta>Tta	p.L156L		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	156					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	p.L156L(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AATTTCCTTAGGAAGTATGGG	0.393000													8	151					0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49420423	49420423	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:49420423C>A	uc001rta.4	-	47	15326	c.15326G>T	c.(15325-15327)tGc>tTc	p.C5109F		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5109			C -> F (in KABS).		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	p.C5109F(1)|p.C4839F(1)		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						GACATTGGGGCAACGCATGCG	0.547000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			33	71					0	0	1	0	0
SCARB1	949	broad.mit.edu	37	12	125348169	125348169	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:125348169G>C	uc001ugp.3	-	0	351	c.98C>G	c.(97-99)cCg>cGg	p.P33R	SCARB1_uc001ugm.4_Missense_Mutation_p.P33R|SCARB1_uc001ugn.4_Missense_Mutation_p.P33R|SCARB1_uc010tbd.2_Missense_Mutation_p.P33R|SCARB1_uc001ugo.4_Missense_Mutation_p.P33R	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN	Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	33					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	p.P33R(3)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GATGAGCGACGGCACCATCAC	0.716000													3	15					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	11014952	11014952	+	RNA	SNP	A	A	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr21:11014952A>T	uc002yis.1	-	6		c.1494T>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CACATTGTCTACATTGCAGAA	0.333000													4	91					0	0	1	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176755961	176755961	+	Splice_Site	SNP	C	C	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:176755961C>G	uc003fiw.4	-	12	1308	c.1048_splice	c.e12-1	p.N350_splice	TBL1XR1_uc003fix.4_Splice_Site_p.N350_splice|TBL1XR1_uc011bpz.2_Splice_Site_p.N22_splice	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	Homo sapiens transducin (beta)-like 1 X-linked receptor 1 (TBL1XR1), mRNA.	350					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	p.?(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TTACTTCATTCTAAAAATAAT	0.323000													4	57					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158612201	158612201	+	Splice_Site	SNP	C	C	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:158612201C>T	uc001fst.1	-	33	4936	c.4737_splice	c.e33+1	p.K1579_splice		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1579					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.K1579K(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGCTTTACCTTCATGGCCT	0.393000													9	269					0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184910384	184910384	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:184910384G>A	uc003fpf.3	-	6	1878	c.1802C>T	c.(1801-1803)tCa>tTa	p.S601L	EHHADH_uc011brs.2_Missense_Mutation_p.S505L	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA.	601						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	p.S601L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TCTATACCGTGATAGGAATTT	0.428000													34	227					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133835	57133835	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr19:57133835C>A	uc002qnm.4	+	2	1418	c.1180C>A	c.(1180-1182)Cgc>Agc	p.R394S	ZNF71_uc021vcg.1_Missense_Mutation_p.R394S	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	394						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R394S(2)|p.G393W(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTTCACGGGGCGCTCGTCCCT	0.627000													3	58					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129601260	129601260	+	Silent	SNP	C	C	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr6:129601260C>T	uc021zfb.1	+	17	2610	c.2505C>T	c.(2503-2505)tgC>tgT	p.C835C	LAMA2_uc003qbn.3_Silent_p.C835C|LAMA2_uc003qbo.3_Silent_p.C835C	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	835	Laminin EGF-like 7.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.C835C(2)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTGATGGATGCCCTGTCGGGT	0.453000													4	77					0	0	1	0	0
NRG3	10718	broad.mit.edu	37	10	84745233	84745233	+	Missense_Mutation	SNP	G	G	A	rs143042604	byFrequency	TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr10:84745233G>A	uc021pvc.1	+	9	2062	c.2035G>A	c.(2035-2037)Gta>Ata	p.V679I	NRG3_uc010qlz.1_Missense_Mutation_p.V654I|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.V655I|NRG3_uc001kcp.2_Missense_Mutation_p.V458I|NRG3_uc001kcq.2_Missense_Mutation_p.V305I|NRG3_uc021pvd.1_Missense_Mutation_p.V434I|NRG3_uc021pve.1_Missense_Mutation_p.V459I|NRG3_uc021pvf.1_Missense_Mutation_p.V305I|NRG3_uc021pvg.1_Missense_Mutation_p.V483I|NRG3_uc021pvh.1_Missense_Mutation_p.V267I|NRG3_uc021pvi.1_Missense_Mutation_p.V485I|NRG3_uc021pvk.1_Missense_Mutation_p.V195I|NRG3_uc001kcr.2_Missense_Mutation_p.V329I|NRG3_uc021pvl.1_Missense_Mutation_p.V305I	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	679					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.V655I(1)|p.V458I(1)|p.R678Q(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ACTGGCCAGCGTAGAAACCGA	0.473000													45	52					0	0	1	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84906612	84906612	+	Silent	SNP	C	C	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr16:84906612C>T	uc010voh.1	+	9	1223	c.996C>T	c.(994-996)tgC>tgT	p.C332C	CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fim.2_Silent_p.C332C|CRISPLD2_uc002fin.4_Silent_p.C332C	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN	Homo sapiens cysteine-rich secretory protein LCCL domain containing 2 (CRISPLD2), mRNA.	332	LCCL 1.					extracellular region|transport vesicle		p.C332C(2)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CTAGCATATGCCGCGCCGCCA	0.542000													5	184					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155449745	155449745	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:155449745C>A	uc009wqq.3	-	2	3396	c.2916G>T	c.(2914-2916)aaG>aaT	p.K972N	ASH1L_uc001fkt.3_Missense_Mutation_p.K972N|ASH1L_uc009wqr.1_Missense_Mutation_p.K972N	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	972					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.K972N(2)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CATTGTTTCTCTTGGTAATTT	0.343000													4	240					0	0	1	0	0
USP38	84640	broad.mit.edu	37	4	144133502	144133502	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr4:144133502A>G	uc003ijb.3	+	7	2063	c.1529A>G	c.(1528-1530)gAg>gGg	p.E510G	USP38_uc003ija.4_Missense_Mutation_p.E510G|USP38_uc003ijc.3_Non-coding_Transcript	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	Homo sapiens ubiquitin specific peptidase 38 (USP38), mRNA.	510					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.E510G(3)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					ATATTCTTTGAGGCTTCCAGA	0.383000													3	232					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20024290	20024290	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr13:20024290A>G	uc001umd.3	-	13	1110	c.899T>C	c.(898-900)tTc>tCc	p.F300S	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.F189S|TPTE2_uc001ume.3_Missense_Mutation_p.F223S|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	300	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.F300S(1)|p.G300A(1)|p.F223S(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TTCCTTGGTGAAAACCACCAT	0.323000													11	185					0	0	1	0	0
KRTAP3-3	85293	broad.mit.edu	37	17	39150166	39150166	+	Missense_Mutation	SNP	C	C	T	rs146610892	byFrequency	TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr17:39150166C>T	uc002hvr.1	-	0	220	c.184G>A	c.(184-186)Gtg>Atg	p.V62M		NM_033185	NP_149441	Q9BYR6	KRA33_HUMAN	Homo sapiens keratin associated protein 3-3 (KRTAP3-3), mRNA.	62						keratin filament	structural molecule activity	p.V62M(2)|p.C61C(1)		lung(2)|prostate(2)	4		Breast(137;0.00043)				CAGGTGGGCACGCAGGGCTGA	0.632000													5	149					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97916435	97916435	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr10:97916435T>G	uc001klp.3	+	5	1213	c.356T>G	c.(355-357)tTc>tGc	p.F119C	ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.3_Missense_Mutation_p.F119C|ZNF518A_uc001klr.3_Missense_Mutation_p.F119C	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F119C(3)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ATACTCAATTTCAGCTGTTTA	0.388000													13	277					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235345029	235345029	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:235345029T>C	uc021pks.1	-	19	3582	c.3205A>G	c.(3205-3207)Att>Gtt	p.I1069V	ARID4B_uc001hwq.3_Missense_Mutation_p.I1069V|ARID4B_uc001hwr.3_Missense_Mutation_p.I983V|ARID4B_uc001hws.4_Missense_Mutation_p.I983V|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Missense_Mutation_p.I750V	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	1069					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.I1069V(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCCACCTCAATTGTGCTATCA	0.493000													32	54					0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	79961132	79961132	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr5:79961132G>A	uc003kgz.3	+	2	782	c.529G>A	c.(529-531)Gca>Aca	p.A177T		NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	177	Interaction with EXO1.				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding	p.A168T(1)|p.A177T(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TCTTCTACACGCAAAGAATGC	0.388000								Mismatch excision repair (MMR)					45	67					0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151845758	151845758	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:151845758C>A	uc003wla.3	-	51	13473	c.13254G>T	c.(13252-13254)agG>agT	p.R4418S	MLL3_uc003wkz.3_Missense_Mutation_p.R3536S|MLL3_uc003wkx.3_Missense_Mutation_p.R576S|MLL3_uc003wky.3_Missense_Mutation_p.R1982S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4418					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.R4418S(2)|p.R4475S(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGTTGAGTAGCCTTGCTGGTC	0.488000			N		medulloblastoma								5	172					0	0	1	0	0
DET1	55070	broad.mit.edu	37	15	89074916	89074916	+	Silent	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr15:89074916G>A	uc002bmq.2	-	2	243	c.54C>T	c.(52-54)acC>acT	p.T18T	DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Silent_p.T7T|DET1_uc010bnk.2_Non-coding_Transcript	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.	7						nucleus		p.T18T(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GAGGCTTGATGGTAGAAACAT	0.413000													3	106					0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	881676	881676	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr19:881676G>T	uc002lqd.1	-	6	1175	c.1024C>A	c.(1024-1026)Cta>Ata	p.L342I	MED16_uc010drw.2_Missense_Mutation_p.L167I|MED16_uc002lqe.3_Missense_Mutation_p.L331I|MED16_uc002lqf.3_Missense_Mutation_p.L331I|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.L331I|MED16_uc010xfx.1_Missense_Mutation_p.L187I|MED16_uc010xfy.1_Intron	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	Homo sapiens mediator complex subunit 16 (MED16), mRNA.	342					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	p.L342I(2)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCCGATAGGATCCGCCAT	0.577000													4	136					0	0	1	0	0
C14orf135	64430	broad.mit.edu	37	14	60591549	60591549	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr14:60591549A>G	uc001xer.4	+	7	2480	c.1958A>G	c.(1957-1959)gAc>gGc	p.D653G	C14orf135_uc001xeq.2_Missense_Mutation_p.D653G|C14orf135_uc010apm.3_Non-coding_Transcript	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	887						integral to membrane		p.D653G(2)|p.D887G(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		CCTGCTGTTGACAAAGGAAAA	0.438000													13	384					0	0	1	0	0
TRAM2	9697	broad.mit.edu	37	6	52400646	52400646	+	Splice_Site	SNP	T	T	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr6:52400646T>A	uc003paq.3	-	2	270	c.121_splice	c.e2-1	p.V41_splice		NM_012288	NP_036420	Q15035	TRAM2_HUMAN	Homo sapiens translocation associated membrane protein 2 (TRAM2), mRNA.	41					collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding	p.?(1)		endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					GGCTGTGACCTGTAAAACAAA	0.438000													3	88					0	0	1	0	0
ZNF167	55888	broad.mit.edu	37	3	44612332	44612332	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:44612332A>G	uc003cnj.3	+	5	2146	c.1730A>G	c.(1729-1731)aAg>aGg	p.K577R	ZNF167_uc003cnk.3_Intron|ZNF167_uc010hin.3_Missense_Mutation_p.K577R|ZNF167_uc003cni.3_Intron|ZNF167_uc010hio.3_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA.	577					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K577R(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		ACTGGGGAAAAGCCATACAAA	0.433000													3	254					0	0	1	0	0
GALNT11	63917	broad.mit.edu	37	7	151814291	151814291	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:151814291A>G	uc010lqg.1	+	8	1513	c.1283A>G	c.(1282-1284)aAt>aGt	p.N428S	GALNT11_uc011kvm.1_Missense_Mutation_p.N347S|GALNT11_uc003wku.2_Missense_Mutation_p.N428S|GALNT11_uc003wkw.1_Missense_Mutation_p.N176S	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) (GALNT11), mRNA.	428						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.N428S(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AGCTATGGCAATATCAGTGAG	0.348000													104	238					0	0	1	0	0
CRMP1	1400	broad.mit.edu	37	4	5837779	5837779	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr4:5837779C>T	uc003gis.3	-	10	1575	c.1486G>A	c.(1486-1488)Gct>Act	p.A496T	CRMP1_uc003giq.3_Missense_Mutation_p.A382T|CRMP1_uc003gir.3_Missense_Mutation_p.A377T	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA.	382					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	p.A496T(2)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CTGGTGACAGCGACAAACTGG	0.567000													77	143					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56603059	56603059	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr2:56603059C>A	uc002rzn.3	+	4	2063	c.1561C>A	c.(1561-1563)Cat>Aat	p.H521N	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	521								p.H521N(2)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCTGTGGTACATTCTCTTAA	0.498000													32	60					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142161764	142161764	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr8:142161764C>A	uc003yvy.3	+	6	940	c.662C>A	c.(661-663)tCg>tAg	p.S221*	DENND3_uc010mep.3_Nonsense_Mutation_p.S234*	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	221	DENN.							p.S221*(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TTCTTCTCCTCGGACTGGGCT	0.542000													3	169					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34389529	34389529	+	Splice_Site	SNP	T	T	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr20:34389529T>G	uc002xek.1	+	2	194	c.83_splice	c.e2+2	p.W28_splice	PHF20_uc002xei.1_Splice_Site_p.W28_splice|PHF20_uc010gfo.1_Splice_Site_p.W28_splice|PHF20_uc002xej.1_Splice_Site|PHF20_uc002xeh.3_Splice_Site	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	p.?(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AAAAAACTGGTACTTTTACAT	0.413000													4	74					0	0	1	0	0
EGR2	1959	broad.mit.edu	37	10	64573635	64573635	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr10:64573635T>G	uc010qio.2	-	2	822	c.802A>C	c.(802-804)Acc>Ccc	p.T268P	EGR2_uc010qim.2_Missense_Mutation_p.T255P|EGR2_uc010qin.2_Missense_Mutation_p.T205P|EGR2_uc001jmi.3_Missense_Mutation_p.T255P|EGR2_uc009xph.3_Missense_Mutation_p.T255P	NM_001136179	NP_001129651	P11161	EGR2_HUMAN	Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.	255			I -> N (in CHN).		fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	RNA polymerase II activating transcription factor binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.T255P(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					ACCCGCAGGGTGTCCAGTGGG	0.602000													7	63					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17032435	17032435	+	Silent	SNP	C	C	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr10:17032435C>T	uc001ioo.3	-	28	4300	c.4248G>A	c.(4246-4248)gaG>gaA	p.E1416E		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1416	CUB 9.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.E1416E(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCAGATACACTCCTTGTTTG	0.517000													13	147					0	0	1	0	0
TLK1	9874	broad.mit.edu	37	2	171862701	171862701	+	Silent	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr2:171862701A>G	uc002ugo.2	-	18	2395	c.1923T>C	c.(1921-1923)ggT>ggC	p.G641G	TLK1_uc002ugn.2_Silent_p.G620G|TLK1_uc002ugp.2_Silent_p.G572G|TLK1_uc002ugq.2_Non-coding_Transcript|TLK1_uc010zdn.1_Silent_p.G524G	NM_001136554	NP_036422	Q9UKI8	TLK1_HUMAN	Homo sapiens tousled-like kinase 1 (TLK1), transcript variant 2, mRNA.	620	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.G572G(2)|p.G620G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTCCATCTACACCATAGCTAT	0.398000													15	213					0	0	1	0	0
LINC00518	221718	broad.mit.edu	37	6	10430364	10430364	+	RNA	SNP	T	T	C			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr6:10430364T>C	uc003myz.2	-	2		c.672A>G								Homo sapiens long intergenic non-protein coding RNA 518 (LINC00518), non-coding RNA.									p.S42G(1)									atttggtcactctCATTGAGG	0.443000													3	178					0	0	1	0	0
AFG3L2	10939	broad.mit.edu	37	18	12358924	12358924	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr18:12358924C>A	uc002kqz.2	-	7	965	c.771G>T	c.(769-771)atG>atT	p.M257I		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	Homo sapiens AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (AFG3L2), nuclear gene encoding mitochondrial protein, mRNA.	257					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	p.M257I(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CCGTAGGCAGCATGCTCAGCA	0.552000													3	33					0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49147711	49147711	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:49147711C>A	uc003cwd.2	-	24	3954	c.3635G>T	c.(3634-3636)cGc>cTc	p.R1212L	USP19_uc003cwa.3_Missense_Mutation_p.R1020L|USP19_uc003cwb.3_Silent_p.P670P|USP19_uc003cvz.4_Missense_Mutation_p.R1315L|USP19_uc011bcg.2_Missense_Mutation_p.R1303L|USP19_uc003cwc.2_Missense_Mutation_p.R970L|USP19_uc011bch.2_Missense_Mutation_p.R1313L	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	1212					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.R1300L(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTTCCGCCGGCGGTAGAAGAG	0.617000													3	103					0	0	1	0	0
USP12	219333	broad.mit.edu	37	13	27649444	27649444	+	Silent	SNP	T	T	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr13:27649444T>A	uc001uqy.3	-	6	1073	c.816A>T	c.(814-816)acA>acT	p.T272T		NM_182488	NP_872294	O75317	UBP12_HUMAN	Homo sapiens ubiquitin specific peptidase 12 (USP12), mRNA.	272					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.T272T(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		AAGAGAGTTTTGTATATCGAT	0.358000													42	61					0	0	1	0	0
DHX40	79665	broad.mit.edu	37	17	57679935	57679935	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr17:57679935G>A	uc002ixn.2	+	14	2006	c.1859G>A	c.(1858-1860)cGa>cAa	p.R620Q	DHX40_uc010woe.2_Missense_Mutation_p.R543Q|DHX40_uc010wof.2_Missense_Mutation_p.R135Q	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.	620							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.R620Q(5)		endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAAGTACTACGAAGATGTCTT	0.338000													50	109					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77448983	77448983	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr9:77448983T>G	uc004ajl.1	-	5	838	c.600A>C	c.(598-600)agA>agC	p.R200S	TRPM6_uc004ajk.1_Missense_Mutation_p.R195S|TRPM6_uc022bib.1_Missense_Mutation_p.R195S|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.R200S|TRPM6_uc010mpd.1_Missense_Mutation_p.R200S|TRPM6_uc010mpe.1_Missense_Mutation_p.R200S|TRPM6_uc004ajn.1_Missense_Mutation_p.R200S	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	200					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R200S(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCCAGATTTTTCTCAAGGAAT	0.403000													12	186					0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9870957	9870957	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:9870957C>A	uc003btg.3	+	9	1908	c.1432C>A	c.(1432-1434)Ccc>Acc	p.P478T	TTLL3_uc003btd.4_Missense_Mutation_p.P539T|TTLL3_uc003btc.2_Missense_Mutation_p.P122T|TTLL3_uc003btf.4_Missense_Mutation_p.P210T|TTLL3_uc010hco.1_Missense_Mutation_p.P414T|TTLL3_uc003bth.4_Missense_Mutation_p.P266T|TTLL3_uc011atj.2_Missense_Mutation_p.P414T|TTLL3_uc003btj.4_Missense_Mutation_p.P266T|TTLL3_uc003bti.4_Missense_Mutation_p.P266T	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.	478	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	p.P478T(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CACGATGGCACCCTCCACAGC	0.622000													59	91					0	0	1	0	0
MARK3	4140	broad.mit.edu	37	14	103918266	103918266	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr14:103918266G>A	uc001ymz.4	+	4	1024	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	MARK3_uc001ymx.4_Missense_Mutation_p.E120K|MARK3_uc001ymw.4_Missense_Mutation_p.E120K|MARK3_uc001yna.4_Missense_Mutation_p.E120K|MARK3_uc001ymy.4_Missense_Mutation_p.E120K|MARK3_uc010awp.3_Missense_Mutation_p.E120K	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA.	120	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.E120K(7)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			GAAGTTATTCGAAGTCATTGA	0.353000													26	337					0	0	1	0	0
A1BG	1	broad.mit.edu	37	19	58863782	58863782	+	Silent	SNP	C	C	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr19:58863782C>T	uc002qsd.4	-	3	542	c.480G>A	c.(478-480)gaG>gaA	p.E160E	A1BG-AS1_uc002qse.3_Intron|A1BG_uc002qsf.2_Non-coding_Transcript|A1BG-AS1_uc002qsg.3_Non-coding_Transcript	NM_130786	NP_570602	P04217	A1BG_HUMAN	Homo sapiens alpha-1-B glycoprotein (A1BG), mRNA.	160	Ig-like V-type 2.					extracellular region		p.E160E(2)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CCTCAGGCACCTCCAGAAACT	0.627000													12	207					0	0	1	0	0
C12orf26	84190	broad.mit.edu	37	12	82792603	82792603	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:82792603C>A	uc001szq.3	+	3	630	c.561C>A	c.(559-561)taC>taA	p.Y187*		NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	Homo sapiens chromosome 12 open reading frame 26 (C12orf26), mRNA.	187								p.Y187*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	19						GTAAAGGCTACCTAAGCTCTT	0.318000													6	103					0	0	1	0	0
SACM1L	22908	broad.mit.edu	37	3	45761023	45761023	+	Silent	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:45761023A>G	uc003cos.2	+	7	813	c.609A>G	c.(607-609)ggA>ggG	p.G203G	SACM1L_uc011bag.1_Silent_p.G100G|SACM1L_uc011bah.1_Silent_p.G137G	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN	Homo sapiens SAC1 suppressor of actin mutations 1-like (yeast) (SACM1L), mRNA.	203	SAC.					Golgi apparatus		p.G203G(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		CTATTAATGGAAAATACTTTG	0.338000													6	77					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30025006	30025006	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr15:30025006C>A	uc001zcr.3	-	13	2225	c.1750G>T	c.(1750-1752)Gcc>Tcc	p.A584S	TJP1_uc010azl.3_Missense_Mutation_p.A572S|TJP1_uc001zcq.3_Missense_Mutation_p.A588S|TJP1_uc001zcs.3_Missense_Mutation_p.A584S	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	584	SH3.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction		p.A584S(2)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGTACACTGGCTAGCTGCTCA	0.403000													40	45					0	0	1	0	0
DAK	26007	broad.mit.edu	37	11	61111398	61111398	+	Silent	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr11:61111398G>A	uc001nre.3	+	11	1310	c.1053G>A	c.(1051-1053)cgG>cgA	p.R351R	DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Silent_p.R281R	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	Homo sapiens dihydroxyacetone kinase 2 homolog (S. cerevisiae) (DAK), mRNA.	351					glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	p.R351R(2)		NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						AGCGGAGCCGGGTAGCCCCTG	0.602000													6	85					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77711840	77711840	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr17:77711840G>A	uc002jxa.3	+	4	1392	c.1372G>A	c.(1372-1374)Gca>Aca	p.A458T		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	458					negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	p.A458T(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GTCTGAGGTCGCATAACGCCC	0.642000													4	117					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102891314	102891314	+	Splice_Site	SNP	A	A	T			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr14:102891314A>T	uc001ylw.2	+	6	865	c.639_splice	c.e6-2	p.S213_splice	TECPR2_uc010txw.2_Intron|TECPR2_uc010awl.3_Splice_Site_p.S213_splice|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	213							protein binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TTCTAATTTTAGTACTGGGAA	0.383000													4	137					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201436396	201436396	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr2:201436396A>G	uc002uvw.2	+	6	1440	c.1327A>G	c.(1327-1329)Agg>Ggg	p.R443G	SGOL2_uc010zhd.1_Missense_Mutation_p.R443G|SGOL2_uc010zhe.1_Missense_Mutation_p.R443G	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	443					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.R443G(2)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GGATGGCAAAAGGGGTGCAGA	0.398000													3	263					0	0	1	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30925726	30925726	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr15:30925726A>C	uc001zet.1	+	2	379	c.234A>C	c.(232-234)gaA>gaC	p.E78D	ARHGAP11B_uc010azv.1_Non-coding_Transcript|ARHGAP11B_uc001zeu.3_Non-coding_Transcript	NM_001039841	NP_001034930	Q3KRB8	RHGBB_HUMAN	Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA.	78	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.E78D(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CTTTAGAAGAACATATTCATA	0.373000													4	186					0	0	1	0	0
PITPNC1	26207	broad.mit.edu	37	17	65688807	65688807	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr17:65688807G>A	uc002jgc.3	+	8	1149	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	PITPNC1_uc002jgb.3_3'UTR	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, cytoplasmic 1 (PITPNC1), transcript variant 1, mRNA.	268					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	p.V268I(4)|p.V268V(1)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			GCCTTCTTCCGTCCGCAGTGC	0.557000													34	153					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87082328	87082328	+	Silent	SNP	A	A	G			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:87082328A>G	uc003uiv.1	-	5	544	c.468T>C	c.(466-468)gcT>gcC	p.A156A	ABCB4_uc003uiw.1_Silent_p.A156A|ABCB4_uc003uix.1_Silent_p.A156A|ABCB4_uc003uiy.3_Silent_p.A156A	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	156	ABC transmembrane type-1 1.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.A156A(2)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GTCGTAGAATAGCATGAAAAA	0.413000													3	189					0	0	1	0	0
GBP2	2634	broad.mit.edu	37	1	89587611	89587611	+	Silent	SNP	G	G	C			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:89587611G>C	uc001dmz.1	-	1	310	c.39C>G	c.(37-39)ctC>ctG	p.L13L	GBP2_uc001dmy.1_Non-coding_Transcript	NM_004120	NP_004111	P32456	GBP2_HUMAN	Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.	13					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.L13L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TGTTATCAATGAGGCTCATTG	0.498000													5	252					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266136	41266136	+	Missense_Mutation	SNP	T	T	C	rs121913407		TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:41266136T>C	uc010hia.1	+	3	289	c.133T>C	c.(133-135)Tct>Cct	p.S45P	CTNNB1_uc003ckq.2_Missense_Mutation_p.S45P|CTNNB1_uc003ckp.2_Missense_Mutation_p.S45P|CTNNB1_uc003ckr.2_Missense_Mutation_p.S45P|CTNNB1_uc011azf.1_Missense_Mutation_p.S38P|CTNNB1_uc011azg.1_Intron|AK311005_uc010hib.1_Non-coding_Transcript	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	45			Missing (in colorectal cancer).|S -> F (in hepatocellular carcinoma).|S -> P (in hepatocellular carcinoma).		Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S45F(446)|p.S45P(362)|p.S45del(134)|p.A5_A80del(119)|p.S45Y(26)|p.S45C(23)|p.S45A(23)|p.A5_A80>D(14)|p.A5_Q143del(14)|p.Q28_H134del(10)|p.H24_S47del(9)|p.P44A(9)|p.W25_I140del(7)|p.T3_A126del(4)|p.M5_N141>D(4)|p.D32_S47del(4)|p.P44_S45del(4)|p.A5_Y142>D(4)|p.?(4)|p.L10_N141del(4)|p.P44S(4)|p.P44L(3)|p.S37_G48>C(2)|p.Q28_Q61del(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.Y30_A97del(2)|p.A20_A80del(2)|p.E15_I140>V(2)|p.H24_M131del(2)|p.A13_R151del(2)|p.M1_A87del(2)|p.P44_N51del(2)|p.V22_T102del(2)|p.S45E(2)|p.A21_A80del(2)|p.S45T(2)|p.I35_K170del(2)|p.S45_S47>C(2)|p.M14_S45del(2)|p.Q4_A80del(2)|p.T42_G48del(2)|p.S45_G48del(2)|p.V22_L139>V(2)|p.T42_K49>Q(2)|p.S45_D58del(2)|p.P16_K133del(2)|p.T40_L46del(2)|p.A5_T59del(2)|p.M1_V173del(2)|p.M8_A80del(2)|p.A5_Q143>E(2)|p.H36_E53>L(2)|p.Y30_A80del(2)|p.S45_L46del(2)|p.T41_N51del(2)|p.A5_E54del(2)|p.V22_S71>A(2)|p.V22_Y64del(2)|p.A20_S111del(2)|p.E9_S47del(1)|p.A20_R151del(1)|p.D17_P128del(1)|p.L7_I140del(1)|p.G38_S45del(1)|p.M8_L132del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.P44del(1)|p.A20_Q143del(1)|p.A43_E53del(1)|p.S23_I140del(1)|p.Q4_D144del(1)|p.S45fs*2(1)|p.V22_A97del(1)|p.S45S(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.P44_S45insAP(1)|p.W25_A80del(1)|p.A5_R90del(1)|p.P44_S45>AP(1)|p.P44_S45insGATTTAP(1)|p.E9_I140del(1)|p.S45_E54del(1)|p.A43_E54del(1)|p.A5_Q72del(1)|p.D6_K133del(1)|p.A5_D144>D(1)|p.D17_A126del(1)|p.Q4_Y142del(1)|p.5_142>(1)|p.A20_Q72del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CACAGCTCCTTCTCTGAGTGG	0.502000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				5	105					0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151853293	151853293	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:151853293delC	uc003wla.3	-	44	12028	c.11809delG	c.(11809-11811)gaafs	p.E3937fs	MLL3_uc003wkz.3_Frame_Shift_Del_p.E3055fs|MLL3_uc003wkx.3_Frame_Shift_Del_p.E95fs|MLL3_uc003wky.3_Frame_Shift_Del_p.E1501fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3937					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ATCATACCTTCATGGCTCACT	0.438			N		medulloblastoma								22	271	---	---	---	---					
MLL3	58508	broad.mit.edu	37	7	151859486	151859487	+	Frame_Shift_Ins	INS	-	TT	TT			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:151859486_151859487insTT	uc003wla.3	-	42	11394_11395	c.11175_11176insAA	c.(11173-11178)acagagfs	p.T3725fs	MLL3_uc003wkz.3_Frame_Shift_Ins_p.T2786fs|MLL3_uc003wky.3_Frame_Shift_Ins_p.T1234fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3725					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGGCAGGACTCTGTCTCAGCCT	0.480			N		medulloblastoma								196	455	---	---	---	---					
MLL3	58508	broad.mit.edu	37	7	151873437	151873437	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:151873437delG	uc003wla.3	-	37	9320	c.9101delC	c.(9100-9102)cctfs	p.P3034fs	MLL3_uc003wkz.3_Frame_Shift_Del_p.P2095fs|MLL3_uc003wky.3_Frame_Shift_Del_p.P543fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3034	Gln-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TAATGTTTGAGGAATCATTAG	0.473			N		medulloblastoma								61	145	---	---	---	---					
DSCC1	79075	broad.mit.edu	37	8	120850633	120850638	+	In_Frame_Del	DEL	CACCAG	-	-			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr8:120850633_120850638delCACCAG	uc003yov.3	-	7	1069_1074	c.934_939delCTGGTG	c.(934-939)ctggtgdel	p.LV312del		NM_024094	NP_076999	Q9BVC3	DCC1_HUMAN	Homo sapiens defective in sister chromatid cohesion 1 homolog (S. cerevisiae) (DSCC1), mRNA.	312					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGTGTCTATCCACCAGCGCTAAACCC	0.364													47	170	---	---	---	---					
CYC1	1537	broad.mit.edu	37	8	145151373	145151373	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr8:145151373delA	uc003zaz.4	+	3	630	c.587delA	c.(586-588)gacfs	p.D196fs	CYC1_uc003zay.3_Frame_Shift_Del_p.D137fs	NM_001916	NP_001907	P08574	CY1_HUMAN	Homo sapiens cytochrome c-1 (CYC1), nuclear gene encoding mitochondrial protein, mRNA.	196	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTGCCCCCTGACCTCAGCTAC	0.577											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	145	---	---	---	---					
C9orf84	158401	broad.mit.edu	37	9	114489999	114490000	+	Frame_Shift_Ins	INS	-	CCAAA	CCAAA			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr9:114489999_114490000insCCAAA	uc004bfr.3	-	10	1690_1691	c.1555_1556insTTTGG	c.(1555-1557)gacfs	p.D519fs	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Frame_Shift_Ins_p.D480fs|C9orf84_uc010mug.3_Frame_Shift_Ins_p.D465fs	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	519										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GCTCAAAAGGTCCAAATCATTC	0.332													22	327	---	---	---	---					
CDKN1B	1027	broad.mit.edu	37	12	12870803	12870803	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:12870803delC	uc001rat.2	+	0	502	c.30delC	c.(28-30)agcfs	p.S10fs		NM_004064	NP_004055	P46527	CDN1B_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1B (p27, Kip1) (CDKN1B), mRNA.	10					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|autophagic cell death|cell cycle arrest|cellular response to lithium ion|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CTAACGGGAGCCCTAGCCTGG	0.607													10	77	---	---	---	---					
ARID2	196528	broad.mit.edu	37	12	46246234	46246241	+	Frame_Shift_Del	DEL	GTGGTACT	-	-			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:46246234_46246241delGTGGTACT	uc001ros.1	+	14	4328_4335	c.4328_4335delGTGGTACT	c.(4327-4335)agtggtactfs	p.S1443fs	ARID2_uc001ror.3_Frame_Shift_Del_p.S1443fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.S899fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.S1070fs|ARID2_uc001rou.1_Frame_Shift_Del_p.S777fs	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1443					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CAGCAATTTAGTGGTACTGATTTGCTTA	0.418			"""N, S, F"""		hepatocellular carcinoma								67	315	---	---	---	---					
CCDC144NL	339184	broad.mit.edu	37	17	20768756	20768756	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr17:20768756delT	uc002gyf.3	-	3	758	c.638delA	c.(637-639)aagfs	p.K213fs	AK057473_uc002gyg.1_5'Flank|AK057473_uc002gyh.1_5'Flank	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN	Homo sapiens coiled-coil domain containing 144 family, N-terminal like (CCDC144NL), mRNA.	213										large_intestine(3)|lung(3)|skin(1)	7						CACATGATTCTTCCCCTTTCT	0.368													7	162	---	---	---	---					
