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
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:29628263A>G	uc010ztl.1	+	2	207	c.175A>G	c.(175-177)Att>Gtt	p.I59V	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.I11V					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													5	160					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72991392	72991392	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr16:72991392G>A	uc002fck.3	-	1	3326	c.2653C>T	c.(2653-2655)Cag>Tag	p.Q885*	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	885					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATCATGAACTGGGCGTCCGAG	0.597000													27	62					0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15103733	15103733	+	Silent	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr10:15103733A>G	uc001int.2	+	4	587	c.333A>G	c.(331-333)ttA>ttG	p.L111L	ACBD7_uc010qby.1_Intron|OLAH_uc001inu.2_Silent_p.L58L	NM_018324	NP_060794	Q9NV23	SAST_HUMAN	Homo sapiens oleoyl-ACP hydrolase (OLAH), transcript variant 1, mRNA.	58					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TGCACTCCTTAAGGCTTCCTG	0.428000													14	39					0	0	1	0	0
SYVN1	84447	broad.mit.edu	37	11	64900945	64900945	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr11:64900945A>C	uc001odb.3	-	1	222	c.128T>G	c.(127-129)aTg>aGg	p.M43R	SYVN1_uc001odc.3_Missense_Mutation_p.M43R|SYVN1_uc009yqc.3_Missense_Mutation_p.M43R	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	Homo sapiens synovial apoptosis inhibitor 1, synoviolin (SYVN1), transcript variant 2, mRNA.	43					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ACTCACTGCCATGCTGGGGCT	0.632000													7	110					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208763	140208763	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:140208763G>A	uc003lho.2	+	0	1114	c.1087G>A	c.(1087-1089)Gct>Act	p.A363T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.A363T|PCDHAC2_uc011dab.2_Missense_Mutation_p.A363T	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	378	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTGAAGACGCTCAATTTGG	0.493000													33	111					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45645596	45645596	+	Silent	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:45645596C>T	uc003jok.3	-	1	565	c.540G>A	c.(538-540)gtG>gtA	p.V180V		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	180						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TATCTGATGCCACATTGAAAA	0.373000													18	62					0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	22775	22775	+	RNA	SNP	T	T	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chrGL000241.1:22775T>A	uc011mgv.2	-	5		c.645A>T								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		TCCAATTGCATCTGAATGCCC	0.328000													4	115					0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109286790	109286790	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:109286790G>A	uc001tnr.4	+	5	1156	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	DAO_uc001tnq.4_Intron|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	162					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						TTCTTCCAGCGGAAAGTGGAG	0.562000													14	35					0	0	1	0	0
METAP2	10988	broad.mit.edu	37	12	95888909	95888909	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:95888909T>C	uc001tec.3	+	5	901	c.767T>C	c.(766-768)aTa>aCa	p.I256T	METAP2_uc010suv.2_Missense_Mutation_p.I233T|METAP2_uc001tef.3_Missense_Mutation_p.I233T|METAP2_uc001tee.3_Non-coding_Transcript	NM_006838	NP_006829	P50579	AMPM2_HUMAN	Homo sapiens methionyl aminopeptidase 2 (METAP2), mRNA.	256					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	GGAACACATATAAGTGGTAAA	0.373000													17	48					0	0	1	0	0
DNAJC21	134218	broad.mit.edu	37	5	34954743	34954743	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:34954743C>G	uc003jjb.3	+	12	1882	c.1655C>G	c.(1654-1656)gCa>gGa	p.A552G	DNAJC21_uc003jjc.3_Missense_Mutation_p.A507G	NM_194283	NP_919259	Q5F1R6	DJC21_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21 (DNAJC21), transcript variant 1, mRNA.	507					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			ACAGGTCATGCAAGAGCACCT	0.408000													12	75					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145368604	145368604	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr1:145368604T>G	uc021oul.1	+	83	10617	c.10582T>G	c.(10582-10584)Tac>Gac	p.Y3528D	NBPF10_uc010oye.2_Missense_Mutation_p.Y887D|NBPF10_uc010oyi.2_Missense_Mutation_p.Y456D|NBPF10_uc010oyj.2_Missense_Mutation_p.Y244D|NBPF10_uc010oyl.2_Missense_Mutation_p.Y244D	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3528										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTTCGCCCTTTACGTGGACAA	0.443000													5	261					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266124	41266124	+	Missense_Mutation	SNP	A	A	G	rs121913412		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:41266124A>G	uc010hia.1	+	3	277	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	CTNNB1_uc003ckq.2_Missense_Mutation_p.T41A|CTNNB1_uc003ckp.2_Missense_Mutation_p.T41A|CTNNB1_uc003ckr.2_Missense_Mutation_p.T41A|CTNNB1_uc011azf.1_Missense_Mutation_p.T34A|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.	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).		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.T41A(1172)|p.A5_A80del(119)|p.T41I(78)|p.A5_A80>D(14)|p.A5_Q143del(14)|p.T41P(13)|p.T40I(12)|p.Q28_H134del(10)|p.H24_S47del(9)|p.T41S(9)|p.T41N(7)|p.W25_I140del(7)|p.T3_A126del(4)|p.M5_N141>D(4)|p.D32_S47del(4)|p.A5_Y142>D(4)|p.?(4)|p.L10_N141del(4)|p.S37_G48>C(2)|p.Q28_Q61del(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.Y30_A97del(2)|p.T40_L46del(2)|p.Q28_A43del(2)|p.E15_I140>V(2)|p.H24_M131del(2)|p.A13_R151del(2)|p.M1_A87del(2)|p.V22_T102del(2)|p.A21_A80del(2)|p.P16_K133del(2)|p.A39_T42del(2)|p.I35_K170del(2)|p.M14_S45del(2)|p.Q4_A80del(2)|p.V22_L139>V(2)|p.T41T(2)|p.V22_S71>A(2)|p.A20_A80del(2)|p.A5_T59del(2)|p.M1_V173del(2)|p.T40S(2)|p.T40T(2)|p.M8_A80del(2)|p.A5_Q143>E(2)|p.H36_E53>L(2)|p.Y30_A80del(2)|p.A5fs*7(2)|p.T41_N51del(2)|p.A5_T40del(2)|p.A5_E54del(2)|p.I35_T41del(2)|p.V22_Y64del(2)|p.A20_S111del(2)|p.D6_A43del(1)|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.A20_Q143del(1)|p.S23_I140del(1)|p.Q4_D144del(1)|p.V22_A97del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.E9_A80del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.A5_R90del(1)|p.W25_A80del(1)|p.T40A(1)|p.E9_I140del(1)|p.Y30_T40del(1)|p.M1_T42del(1)|p.A5_Q72del(1)|p.D6_K133del(1)|p.A5_T42del(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)	TGGTGCCACTACCACAGCTCC	0.507000	T41A(CCK81_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				4	40					0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33564307	33564307	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr11:33564307G>A	uc021qfs.1	+	0	431	c.307G>A	c.(307-309)Ggg>Agg	p.G103R	C11orf41_uc001mun.1_Missense_Mutation_p.G103R	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	103						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						AGTGCACAATGGGGTGTCTTT	0.522000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	23					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9776015	9776015	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:9776015A>G	uc003bse.3	+	1	590	c.191A>G	c.(190-192)aAg>aGg	p.K64R	BRPF1_uc003bsf.3_Missense_Mutation_p.K64R|BRPF1_uc003bsg.3_Missense_Mutation_p.K64R|BRPF1_uc011ati.2_Missense_Mutation_p.K64R	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	64	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding	p.K64N(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CACAAGAAAAAGGGGCGCCAG	0.572000													3	172					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:207025358A>G	uc002vbg.1	+	2	239	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Missense_Mutation_p.S43G|EEF1B2_uc002vbh.1_Missense_Mutation_p.S43G|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(8)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													4	125					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19414170	19414170	+	RNA	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr13:19414170T>C	uc010tcj.1	-	0		c.31940A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GATTGAACAGTTGGTTCAAGT	0.269000													5	27					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45645595	45645595	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:45645595C>A	uc003jok.3	-	1	566	c.541G>T	c.(541-543)Gca>Tca	p.A181S		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	181						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTATCTGATGCCACATTGAAA	0.373000													19	61					0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38047428	38047428	+	Missense_Mutation	SNP	T	T	C	rs142814627	byFrequency	TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:38047428T>C	uc003chj.3	+	16	2382	c.2096T>C	c.(2095-2097)aTt>aCt	p.I699T	VILL_uc003chl.3_Missense_Mutation_p.I699T	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	699					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCCACCTTCATTGGATGGTTC	0.612000													47	88					0	0	1	0	0
TBX3	6926	broad.mit.edu	37	12	115109860	115109860	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:115109860T>C	uc001tvt.1	-	7	2982	c.2018A>G	c.(2017-2019)aAa>aGa	p.K673R	TBX3_uc001tvu.1_Missense_Mutation_p.K653R	NM_016569	NP_057653	O15119	TBX3_HUMAN	Homo sapiens T-box 3 (TBX3), transcript variant 2, mRNA.	673	Transcription repression.				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GGCGGCGACTTTGCCGTCCAG	0.716000													3	4					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151067883	151067883	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:151067883A>G	uc003eyp.3	+	14	2311	c.2182A>G	c.(2182-2184)Atc>Gtc	p.I728V	MED12L_uc011bnz.2_Missense_Mutation_p.I588V|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	728					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCGCACAATCCTTCTCTA	0.423000													88	205					0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210654289	210654289	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:210654289G>A	uc010zjc.1	+	5	838	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	UNC80_uc021vvx.1_Missense_Mutation_p.R253Q|UNC80_uc002vdj.1_Missense_Mutation_p.R253Q	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN	Homo sapiens unc-80 homolog (C. elegans) (UNC80), transcript variant 1, mRNA.	253						integral to membrane		p.R253Q(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						AGTCAAAGCCGGACCTGTGAA	0.368000													11	117					0	0	1	0	0
CERS4	79603	broad.mit.edu	37	19	8321856	8321856	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr19:8321856C>G	uc002mjg.3	+	8	956	c.636C>G	c.(634-636)caC>caG	p.H212Q	CERS4_uc002mji.3_Missense_Mutation_p.H48Q|CERS4_uc010dvz.3_Missense_Mutation_p.H212Q	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN	Homo sapiens ceramide synthase 4 (CERS4), mRNA.	212	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										AGGTGATACACCACTTCGTGG	0.567000													14	423					0	0	1	0	0
ELOVL6	79071	broad.mit.edu	37	4	110972797	110972797	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr4:110972797C>T	uc003hzz.3	-	4	621	c.495G>A	c.(493-495)tgG>tgA	p.W165*	ELOVL6_uc003iaa.3_Nonsense_Mutation_p.W165*	NM_001130721	NP_076995	Q9H5J4	ELOV6_HUMAN	Homo sapiens ELOVL fatty acid elongase 6 (ELOVL6), transcript variant 2, mRNA.	165					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		TAGTCATGAACCAACCTCCCC	0.522000													18	54					0	0	1	0	0
FAM21C	253725	broad.mit.edu	37	10	46261197	46261197	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr10:46261197C>T	uc001jcu.3	+	18	1926	c.1808C>T	c.(1807-1809)gCa>gTa	p.A603V	FAM21C_uc001jcs.2_Missense_Mutation_p.A548V|FAM21C_uc010qfk.2_Missense_Mutation_p.A603V|FAM21C_uc010qfi.2_Missense_Mutation_p.A579V|FAM21C_uc010qfj.2_5'UTR	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	Homo sapiens family with sequence similarity 21, member C (FAM21C), transcript variant 1, mRNA.	603										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAAGAGAAAGCAAAAGCCTCC	0.443000													15	92					0	0	1	0	0
IL4	3565	broad.mit.edu	37	5	132010172	132010172	+	Missense_Mutation	SNP	G	G	A	rs56279116		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:132010172G>A	uc003kxk.1	+	1	527	c.157G>A	c.(157-159)Gta>Ata	p.V53I	IL4_uc003kxl.1_Intron	NM_000589	NP_000580	P05112	IL4_HUMAN	Homo sapiens interleukin 4 (IL4), transcript variant 1, mRNA.	53					B cell differentiation|T-helper 2 cell cytokine production|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding			NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		CGAGTTGACCGTAACAGACAT	0.498000													3	101					0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147781990	147781990	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:147781990G>A	uc003lpf.1	+	4	626	c.506G>A	c.(505-507)cGt>cAt	p.R169H	FBXO38_uc003lpg.1_Missense_Mutation_p.R169H|FBXO38_uc003lph.2_Missense_Mutation_p.R169H	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	169						cytoplasm|nucleus		p.R169H(2)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAAATTTCGTAATCGTAAT	0.353000													4	78					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129389968	129389968	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:129389968T>C	uc021xdy.1	-	3	1150	c.716A>G	c.(715-717)cAg>cGg	p.Q239R	TMCC1_uc003emy.4_5'UTR|TMCC1_uc011blc.2_Missense_Mutation_p.Q60R|TMCC1_uc010htg.3_Missense_Mutation_p.Q125R	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	239						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CAGGATCTTCTGCTGCAGGTG	0.527000													31	178					0	0	1	0	0
ANGEL2	90806	broad.mit.edu	37	1	213186710	213186710	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr1:213186710G>A	uc001hjz.3	-	1	265	c.110C>T	c.(109-111)aCa>aTa	p.T37I	ANGEL2_uc010pto.2_Intron|ANGEL2_uc010ptp.2_Intron|ANGEL2_uc001hka.3_Intron|ANGEL2_uc010ptq.2_Intron|ANGEL2_uc001hkb.3_Missense_Mutation_p.T15I	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN	Homo sapiens angel homolog 2 (Drosophila) (ANGEL2), mRNA.	37										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CTCCCACGGTGTAGTCCAGTC	0.458000													4	141					0	0	1	0	0
NECAB3	63941	broad.mit.edu	37	20	32248142	32248142	+	Silent	SNP	C	C	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:32248142C>A	uc002wzn.4	-	5	553	c.447G>T	c.(445-447)acG>acT	p.T149T	NECAB3_uc002wzl.3_5'UTR|NECAB3_uc002wzm.4_Silent_p.T149T|NECAB3_uc002wzo.4_Non-coding_Transcript|C20orf144_uc002wzs.2_5'Flank	NM_031232	NP_112509	Q96P71	NECA3_HUMAN	Homo sapiens N-terminal EF-hand calcium binding protein 3 (NECAB3), transcript variant 2, mRNA.	149					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	Golgi cis cisterna|endoplasmic reticulum membrane|nucleus	calcium ion binding|oxidoreductase activity|protein binding			large_intestine(3)|lung(5)|skin(2)	10						GCTGGCTCACCGTCTCCCGCA	0.647000													3	67					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876450	35876450	+	Silent	SNP	G	G	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:35876450G>C	uc003jjs.3	+	7	1331	c.1242G>C	c.(1240-1242)acG>acC	p.T414T	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	414			T -> M (in dbSNP:rs2229232).		immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CAAACAGCACGCTGCCCCCTC	0.522000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						3	69					0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131487419	131487419	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:131487419C>T	uc002trv.2	+	0	777	c.695C>T	c.(694-696)aCa>aTa	p.T232I		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	232						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					TTCCTCTGCACAGCTCTCATT	0.572000													18	142					0	0	1	0	0
AKT2	208	broad.mit.edu	37	19	40744879	40744879	+	Splice_Site	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr19:40744879G>A	uc002onf.3	-	8	939	c.640_splice	c.e8-1	p.A214_splice	AKT2_uc010egs.3_Splice_Site_p.A214_splice|AKT2_uc010xvj.2_Splice_Site_p.A152_splice|AKT2_uc010egt.3_Splice_Site_p.A152_splice|AKT2_uc010egu.2_Splice_Site_p.A152_splice|AKT2_uc002one.3_Splice_Site_p.A110_splice	NM_001626	NP_001229957	P31751	AKT2_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA.	214	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			ATACTTCAGCGCCTGGGGGAT	0.642000			A		"""ovarian, pancreatic """								4	105					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22362943	22362943	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr19:22362943T>G	uc002nqs.1	-	2	1894	c.1576A>C	c.(1576-1578)Att>Ctt	p.I526L		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CCAGTATGAATTATCTTATGT	0.398000													3	120					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415297	57415297	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:57415297G>T	uc021wfl.1	+	0	503	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S	GNAS-AS1_uc002xzs.2_Intron|GNAS_uc002xzt.3_5'UTR|GNAS_uc021wfm.1_Missense_Mutation_p.A46S|GNAS_uc010gjq.3_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 4, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGCGCCCTTGCCACCTCCAA	0.697000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			3	45					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:207025366G>A	uc002vbg.1	+	2	247	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Silent_p.P45P|EEF1B2_uc002vbh.1_Silent_p.P45P|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(10)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													4	129					0	0	1	0	0
CEP85L	387119	broad.mit.edu	37	6	118790285	118790285	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr6:118790285T>C	uc003pya.2	-	12	2280	c.2213A>G	c.(2212-2214)cAg>cGg	p.Q738R	CEP85L_uc003pxz.2_Missense_Mutation_p.Q735R	NM_001178035	NP_001171506	Q5SZL2	CF204_HUMAN	Homo sapiens centrosomal protein 85kDa-like (CEP85L), transcript variant 3, mRNA.	735						centrosome											CTGAGCACGCTGATTAAGAAT	0.383000													13	72					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480145	73480145	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr8:73480145C>T	uc003xzb.3	+	1	764	c.176C>T	c.(175-177)aCg>aTg	p.T59M		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	59					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTGCCCAGGACGCGCCTGGGG	0.537000													27	74					0	0	1	0	0
NGLY1	55768	broad.mit.edu	37	3	25820147	25820147	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:25820147C>T	uc003cdl.3	-	1	272	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	NGLY1_uc010hfg.3_Missense_Mutation_p.R55Q|NGLY1_uc003cdm.3_Missense_Mutation_p.R55Q|NGLY1_uc011awo.2_Missense_Mutation_p.R13Q|NGLY1_uc003cdk.3_Non-coding_Transcript	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	Homo sapiens N-glycanase 1 (NGLY1), transcript variant 1, mRNA.	55	PUB.				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						GTTTCCAATCCGGATGGATCT	0.338000													31	72					0	0	1	0	0
CCDC104	112942	broad.mit.edu	37	2	55746969	55746969	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:55746969G>T	uc002ryx.2	+	0	230	c.32G>T	c.(31-33)tGg>tTg	p.W11L	CCDC104_uc002ryy.2_Missense_Mutation_p.W11L	NM_080667	NP_542398	Q96G28	CC104_HUMAN	Homo sapiens coiled-coil domain containing 104 (CCDC104), mRNA.	11										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGGTGGAGTGGGTAGTGGAG	0.612000													43	94					0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54440053	54440053	+	Silent	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr4:54440053G>A	uc003hag.4	-	1	373	c.117C>T	c.(115-117)ctC>ctT	p.L39L	PDGFRA_uc003haa.3_Intron|LNX1_uc003hah.4_Non-coding_Transcript	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	39						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGTGGCAGATGAGGTCATCAT	0.572000													17	35					0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72736974	72736974	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr17:72736974T>C	uc010wrc.2	+	1	366	c.176T>C	c.(175-177)tTc>tCc	p.F59S	RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron|RAB37_uc010dfu.3_Intron|RAB37_uc010wrb.2_Missense_Mutation_p.F22S|RAB37_uc002jlk.3_Missense_Mutation_p.F54S|RAB37_uc010wre.2_Intron	NM_001163989	NP_001157461	Q96AX2	RAB37_HUMAN	Homo sapiens RAB37, member RAS oncogene family (RAB37), transcript variant 4, mRNA.	54					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	p.G59R(1)|p.I58I(1)|p.I58M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GACGGGGCCTTCCTGTCCGGA	0.577000													23	184					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5220066	5220066	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr19:5220066G>A	uc002mbv.3	-	21	3883	c.3649C>T	c.(3649-3651)Cca>Tca	p.P1217S	PTPRS_uc002mbu.1_Missense_Mutation_p.P786S|PTPRS_uc010xin.2_Missense_Mutation_p.P786S|PTPRS_uc002mbw.3_Missense_Mutation_p.P1195S|PTPRS_uc002mbx.3_Missense_Mutation_p.P790S|PTPRS_uc002mby.3_Missense_Mutation_p.P786S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1217					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		AACGTGGGTGGCAGCACAGAG	0.647000													4	94					0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5493806	5493806	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr10:5493806A>C	uc001iia.3	+	3	407	c.269A>C	c.(268-270)aAa>aCa	p.K90T	NET1_uc010qar.2_5'UTR|NET1_uc001iib.3_Missense_Mutation_p.K36T|NET1_uc010qas.2_5'UTR	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	Homo sapiens neuroepithelial cell transforming 1 (NET1), transcript variant 1, mRNA.	90					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell growth|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCAAGCAATAAAAGAGTTCGA	0.388000													5	125					0	0	1	0	0
AGAP9	642517	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr10:47207813T>C	uc009xnf.2	-	4	508	c.396_splice	c.e4+1	p.H132_splice	AGAP9_uc001jei.3_Splice_Site	NM_001190810	NP_001177739	D3YTF3	D3YTF3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 (AGAP9), mRNA.	132					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.H228R(20)									TTTACTTACATGGTTTGTACA	0.294000													3	16					0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120365112	120365112	+	Splice_Site	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:120365112A>G	uc003edw.3	-	9	1109	c.649_splice	c.e9+1	p.G217_splice	HGD_uc003edv.3_Splice_Site_p.G76_splice	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	217					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		ATGAAGATTTACCAATTGGTC	0.453000													23	48					0	0	1	0	0
ULK3	25989	broad.mit.edu	37	15	75134439	75134439	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr15:75134439G>A	uc010ulq.1	-	2	377	c.374C>T	c.(373-375)gCg>gTg	p.A125V	ULK3_uc010ulp.1_Missense_Mutation_p.A24V|ULK3_uc010ulr.1_5'UTR|ULK3_uc010bkf.1_Missense_Mutation_p.A114V|ULK3_uc002ayv.2_Missense_Mutation_p.A114V|ULK3_uc010uls.1_5'UTR|ULK3_uc010ult.1_Missense_Mutation_p.A24V|ULK3_uc010ulu.1_Missense_Mutation_p.A24V	NM_001099436	NP_001092906	Q6PHR2	ULK3_HUMAN	Homo sapiens unc-51-like kinase 3 (C. elegans) (ULK3), mRNA.	114	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(2)	2						GAAGACACGCGCCACCTTCTC	0.572000													61	174					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144998994	144998994	+	Silent	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr8:144998994C>T	uc003zaf.1	-	30	5684	c.5514G>A	c.(5512-5514)gcG>gcA	p.A1838A	PLEC_uc003zab.1_Silent_p.A1701A|PLEC_uc003zac.1_Silent_p.A1705A|PLEC_uc003zad.2_Silent_p.A1701A|PLEC_uc003zae.1_Silent_p.A1669A|PLEC_uc003zag.1_Silent_p.A1679A|PLEC_uc003zah.2_Silent_p.A1687A|PLEC_uc003zaj.2_Silent_p.A1728A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1838	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGTGCCTTCCGCCAGCTGCC	0.746000													3	8					0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34839640	34839640	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr6:34839640A>C	uc003oju.4	+	19	4369	c.4135A>C	c.(4135-4137)Aag>Cag	p.K1379Q	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	1379										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TAAAAGTGAGAAGAGACAGCC	0.468000													5	40					0	0	1	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86916229	86916229	+	Silent	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr4:86916229G>A	uc003hpk.3	+	8	1871	c.1422G>A	c.(1420-1422)acG>acA	p.T474T	ARHGAP24_uc003hpl.3_Silent_p.T379T|ARHGAP24_uc010ikf.3_Silent_p.T389T|ARHGAP24_uc003hpm.3_Silent_p.T381T	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	474					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	p.T474T(1)|p.T381T(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAATGGGCACGCACAGTGTAC	0.517000													4	105					0	0	1	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148747813	148747813	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:148747813A>G	uc003lqk.2	+	5	1143	c.1081A>G	c.(1081-1083)Acc>Gcc	p.T361A	PCYOX1L_uc003lql.2_Missense_Mutation_p.T344A|PCYOX1L_uc010jgz.2_Missense_Mutation_p.T285A|PCYOX1L_uc003lqm.2_Missense_Mutation_p.T243A|PCYOX1L_uc003lqn.2_Missense_Mutation_p.T271A	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	Homo sapiens prenylcysteine oxidase 1 like (PCYOX1L), mRNA.	361					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACATCCTTACCACAGATTT	0.557000											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	207					0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25259959	25259959	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:25259959C>A	uc001rgh.3	+	19	2325	c.1231C>A	c.(1231-1233)Cca>Aca	p.P411T	LRMP_uc010sja.2_Missense_Mutation_p.P411T|LRMP_uc010sjc.2_Missense_Mutation_p.P411T|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Missense_Mutation_p.P358T|LRMP_uc010sjd.2_Missense_Mutation_p.P358T	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	467					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GAAAAATAATCCATCAAAGTG	0.373000													13	22					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48666102	48666102	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:48666102C>T	uc003cuf.1	-	50	11860	c.11860G>A	c.(11860-11862)Gtg>Atg	p.V3954M	CELSR3_uc003cug.3_Missense_Mutation_p.V528M|CELSR3_uc011bbp.2_Missense_Mutation_p.V513M|CELSR3_uc010hke.3_Missense_Mutation_p.V400M|CELSR3_uc003cuk.3_Missense_Mutation_p.V442M|CELSR3_uc003cuh.3_Missense_Mutation_p.V549M|CELSR3_uc003cui.3_Missense_Mutation_p.V549M|CELSR3_uc003cuj.3_Missense_Mutation_p.V549M	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCAAAGTACACGGTGGCCGAG	0.612000													3	68					0	0	1	0	0
SOBP	55084	broad.mit.edu	37	6	107954878	107954878	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr6:107954878G>A	uc003prx.3	+	5	1334	c.830G>A	c.(829-831)aGc>aAc	p.S277N		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA.	277							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GGGCTGTGCAGCACATTACAC	0.488000													3	85					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19414116	19414116	+	RNA	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr13:19414116C>T	uc010tcj.1	-	0		c.31994G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GATTGATTTACCTGATTTGGA	0.269000													4	17					0	0	1	0	0
DDX11L11	0	broad.mit.edu	37	12	92920	92920	+	Missense_Mutation	SNP	C	C	G	rs145563795	by1000genomes	TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:92920C>G	uc010sdi.1	-	0	99	c.71G>C	c.(70-72)aGt>aCt	p.S24T	DDX11L11_uc010sdj.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 11;																		ACTCACAAGACTGTGATCCAA	0.622000													2	9					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12155153	12155153	+	Silent	SNP	G	G	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr19:12155153G>T	uc021upl.1	-	3	1229	c.1063C>A	c.(1063-1065)Cga>Aga	p.R355R	ZNF878_uc002mta.1_Silent_p.R402R	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TCATGTATTCGAAGATCCTTG	0.383000													3	51					0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82892950	82892950	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr11:82892950T>G	uc001ozx.4	+	12	4567	c.4222T>G	c.(4222-4224)Ttt>Gtt	p.F1408V		NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	1408					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAAGAGCCAGTTTTTTGAAAA	0.388000													9	18					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227896870	227896870	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:227896870G>A	uc021vxr.1	-	37	3801	c.3700C>T	c.(3700-3702)Ccc>Tcc	p.P1234S	COL4A4_uc021vxs.1_Missense_Mutation_p.P1234S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1234	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTACCTGGGGGTCCTGGGGGA	0.507000													4	104					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190030	49190030	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:49190030A>G	uc002rww.3	-	9	2040	c.1930T>C	c.(1930-1932)Tgt>Cgt	p.C644R	FSHR_uc010fbn.3_Missense_Mutation_p.C618R|FSHR_uc002rwx.3_Missense_Mutation_p.C582R	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	644					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TAGCAGCCACACTTGCTCAGC	0.478000									Gonadal Dysgenesis, 46 XX				9	45					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367800	145367800	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr1:145367800G>A	uc021oul.1	+	82	10431	c.10396G>A	c.(10396-10398)Gat>Aat	p.D3466N	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3466								p.D3466N(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		aggggaagaagaTCAAAACCC	0.428000													14	30					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380382	147380382	+	Silent	SNP	C	C	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr1:147380382C>T	uc021ovm.1	+	0	300	c.300C>T	c.(298-300)gtC>gtT	p.V100V	GJA8_uc001epu.2_Silent_p.V100V	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	100					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.V100I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TGCACTACGTCCGCATGGAGG	0.657000													17	66					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr1:74575212_74575213insT	uc001dfy.4	-	4	924_925	c.732_733insA	c.(730-735)aaacagfs	p.K244fs	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	244	IQ.									NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327													8	92	---	---	---	---					
PLA2R1	22925	broad.mit.edu	37	2	160918876	160918878	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:160918876_160918878delCAG	uc002ube.2	-	0	249_251	c.37_39delCTG	c.(37-39)ctgdel	p.L13del	PLA2R1_uc010zcp.2_In_Frame_Del_p.L13del|PLA2R1_uc002ubf.3_In_Frame_Del_p.L13del	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	13					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GCGGCGCCCCcagcagcagcagc	0.729													2	4	---	---	---	---					
ASTE1	28990	broad.mit.edu	37	3	130733047	130733047	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:130733047delT	uc010htm.1	-	6	2176	c.1969delA	c.(1969-1971)aggfs	p.R657fs	ATP2C1_uc011blh.2_Intron|ATP2C1_uc011bli.2_Intron|ATP2C1_uc003enm.3_Intron|ATP2C1_uc003enn.3_Intron|ATP2C1_uc003enp.3_Intron|ATP2C1_uc003ent.3_Intron|ATP2C1_uc003ens.3_Intron|ASTE1_uc003env.1_Frame_Shift_Del_p.R632fs|ASTE1_uc011blj.1_Non-coding_Transcript	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	Homo sapiens asteroid homolog 1 (Drosophila) (ASTE1), mRNA.	632					DNA repair		nuclease activity	p.R632fs*33(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TTCTTCTGCCTTTTTTTTTTT	0.403													10	35	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:151148114_151148116delCAG	uc003eyp.3	+	41	6460_6462	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_uc011bnz.2_In_Frame_Del_p.Q1779del	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	2115	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527													7	116	---	---	---	---					
YEATS2	55689	broad.mit.edu	37	3	183479310	183479310	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:183479310delT	uc003fly.2	+	13	1867	c.1672delT	c.(1672-1674)tttfs	p.F558fs		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	558					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGATTCTTTGTTTGCATCTAT	0.388													8	206	---	---	---	---					
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr4:146077123_146077125delCAG	uc003ika.4	-	7	596_598	c.458_460delCTG	c.(457-462)gctgat>gat	p.A153del		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.340													9	106	---	---	---	---					
MLL2	8085	broad.mit.edu	37	12	49416426	49416440	+	In_Frame_Del	DEL	TGCCAATGTACTCGA	-	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:49416426_49416440delTGCCAATGTACTCGA	uc001rta.4	-	50	16271_16285	c.16271_16285delTCGAGTACATTGGCA	c.(16270-16287)atcgagtacattggcacc>acc	p.IEYIG5424del		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5424	SET.				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.G5428D(1)|p.E5425*(1)|p.G5158D(1)|p.E5155*(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						CGAATGATGGTGCCAATGTACTCGATAACCATTGT	0.553			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)			41	343	---	---	---	---					
FRG1B	284802	broad.mit.edu	37	20	29628226	29628226	+	Splice_Site	DEL	G	-	-	rs78710112	by1000genomes	TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:29628226delG	uc010ztl.1	+	3	171	c.139_splice	c.e3-1	p.G47_splice	FRG1B_uc002wvm.1_Splice_Site|FRG1B_uc010ztj.1_Splice_Site|FRG1B_uc010gdr.1_Splice_Site|FRG1B_uc010ztk.1_Splice_Site					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTTCACTTAGGGGAAAATGG	0.358													10	214	---	---	---	---					
FRG1B	284802	broad.mit.edu	37	20	29628229	29628230	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:29628229_29628230insA	uc010ztl.1	+	2	173_174	c.141_142insA	c.(139-144)gggaaafs	p.G47fs	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_5'UTR					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCACTTAGGGGAAAATGGCTTT	0.351													12	217	---	---	---	---					
IRS4	8471	broad.mit.edu	37	X	107977190	107977191	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chrX:107977190_107977191delAT	uc004eoc.2	-	0	2417_2418	c.2384_2385delAT	c.(2383-2385)aatfs	p.N795fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	795	CRK-binding.					plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CACCCTGAGGATTTCTGGGGTT	0.465													20	101	---	---	---	---					
